{"Name":"Carney complex","DiseaseID__c":"GARD:0001119","id":1119,"encodedName":"carney-complex","IsDeleted":false,"Disease_Name_Full__c":"Carney complex","Xref_IDs__c":"733491005; C0406810; C4705; D056733; DOID:0050471; MEDGEN:140810; MONDO:0015285; NBK1286; ORPHA:1359","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015285","Disease_Description__c":"A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.","GARD_Name__c":"Carney complex","GARD_Synonym__c":"atrial myxoma with lentigines; carney syndrome; carney's syndrome; cnc; lamb; lamb (lentigines, atrial myxoma, blue nevi) syndrome; lamb syndrome; lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome; myxoma-spotty pigmentation-endocrine overactivity syndrome; myxoma, spotty pigmentation, and endocrine overactivity; myxoma, spotty pigmentation, endocrine overactivity syndrome; name syndrome; nevi, atrial myxoma, skin myxoma, ephelides syndrome","Curated_Disease_Description_Source__c":"GARD:0001119","Curated_Disease_Description__c":"Carney complex is a disorder that is characterized by changes in skin coloring (pigmentation) and an increased risk of tumors. Many of the signs and symptoms of Carney complex become apparent during adolescence or early adulthood. Almost all people with Carney complex have areas of unusual skin pigmentation. Brown or black skin spots called lentigines may appear anywhere on the body, but they tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus. People with Carney complex have an increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma), skin, breast, and other parts of the body. Cardiac myxomas may be found in one or more chambers of the heart. These tumors can block the flow of blood through the heart, which can cause serious complications, including sudden death. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In people with Carney complex, myxomas tend to recur after they are removed. Individuals with Carney complex may also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. Approximately 25 percent of people with Carney complex develop a specific type of adrenal tumor called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce too much of the hormone cortisol. High levels of cortisol can lead to the development of Cushing syndrome, which is characterized by weight gain in the face and upper body, slow growth in children, bone loss, fragile skin, fatigue, and other health problems. Tumors of other endocrine tissues, such as the thyroid, testes, and ovaries, are also seen in people with Carney complex. Many affected individuals have tumors on the thyroid gland called adenomas. Occasionally, people with thyroid adenomas develop thyroid cancer. In people with Carney complex, adenomas may also form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually causes the production of too much growth hormone. Excess growth hormone can lead to a condition called acromegaly, which is characterized by large hands and feet, arthritis, and distinctive facial features that are often described as 'coarse.' Approximately 10 percent of people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma (PMS). This tumor occurs in specialized cells called Schwann cells that wrap around and insulate nerve cells. These tumors are usually benign, but they can become cancerous (malignant). Although most tumors that develop in people with Carney complex are benign, some affected individuals develop cancer over time. Complications associated with cardiac myxomas, PMS, or cancer can shorten the life expectancy for some affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1359","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015285","ORPHANET_ID__c":"ORPHA:1359","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo de carney","Spanish_Description_Source__c":"ORPHA:1359","Spanish_Description__c":"Es una enfermedad endocrina poco frecuente caracterizada por lentigos de distribución periorificial característica, nevus azul, mixomas, diversos tumores endocrinos, incluyendo la enfermedad corticosuprarrenal nodular pigmentada primaria (PPNAD), acromegalia, tumores tiroideos y una amplia gama de otros tumores.","Spanish_Disease_Name__c":"complejo de carney","Spanish_GARD_Synonym__c":"síndrome de carney; síndrome de mixoma-pigmentación irregular-hiperactividad endocrina","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Carney complex is a disorder that is characterized by changes in skin coloring (pigmentation) and an increased risk of tumors. Many of the signs and symptoms of Carney complex become apparent during adolescence or early adulthood. Almost all people with Carney complex have areas of unusual skin pigmentation. Brown or black skin spots called lentigines may appear anywhere on the body, but they tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus. People with Carney complex have an increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma), skin, breast, and other parts of the body. Cardiac myxomas may be found in one or more chambers of the heart. These tumors can block the flow of blood through the heart, which can cause serious complications, including sudden death. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In people with Carney complex, myxomas tend to recur after they are removed. Individuals with Carney complex may also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. Approximately 25 percent of people with Carney complex develop a specific type of adrenal tumor called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce too much of the hormone cortisol. High levels of cortisol can lead to the development of Cushing syndrome, which is characterized by weight gain in the face and upper body, slow growth in children, bone loss, fragile skin, fatigue, and other health problems. Tumors of other endocrine tissues, such as the thyroid, testes, and ovaries, are also seen in people with Carney complex. Many affected individuals have tumors on the thyroid gland called adenomas. Occasionally, people with thyroid adenomas develop thyroid cancer. In people with Carney complex, adenomas may also form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually causes the production of too much growth hormone. Excess growth hormone can lead to a condition called acromegaly, which is characterized by large hands and feet, arthritis, and distinctive facial features that are often described as 'coarse.' Approximately 10 percent of people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma (PMS). This tumor occurs in specialized cells called Schwann cells that wrap around and insulate nerve cells. These tumors are usually benign, but they can become cancerous (malignant). Although most tumors that develop in people with Carney complex are benign, some affected individuals develop cancer over time. Complications associated with cardiac myxomas, PMS, or cancer can shorten the life expectancy for some affected individuals.","Curated_Disease_Description_Source__c":"GARD:0001119","GARD_Synonym__c":"atrial myxoma with lentigines; carney syndrome; carney's syndrome; cnc; lamb; lamb (lentigines, atrial myxoma, blue nevi) syndrome; lamb syndrome; lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome; myxoma-spotty pigmentation-endocrine overactivity syndrome; myxoma, spotty pigmentation, and endocrine overactivity; myxoma, spotty pigmentation, endocrine overactivity syndrome; name syndrome; nevi, atrial myxoma, skin myxoma, ephelides syndrome","Name":"Carney complex","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Cancer Hope Network","Website__c":"https://www.cancerhopenetwork.org/"},{"Account_Name__c":"Rare Cancer Alliance","Website__c":"https://www.rare-cancer.org/"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1359"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1359"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406810"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2607929"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001119","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1286","Source__c":"Gene Review","Xref__c":"NBK1286"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733491005","Source__c":"C0406810; MONDO:0015285","Xref__c":"733491005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140810","Source__c":"C0406810","Xref__c":"MEDGEN:140810"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4705","Source__c":"C0406810; MONDO:0015285","Xref__c":"C4705"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056733","Source__c":"C0406810; MONDO:0015285","Xref__c":"D056733"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406810","Source__c":"C0406810","Xref__c":"C0406810"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050471","Source__c":"MONDO:0015285","Xref__c":"DOID:0050471"},{"URL__c":"https://www.orpha.net/en/disease/detail/1359","Source__c":"C0406810; MONDO:0015285; ORPHA:1359","Xref__c":"ORPHA:1359"},{"URL__c":"https://medlineplus.gov/genetics/condition/carney-complex","Source__c":"GARD:0001119","Xref__c":"https://medlineplus.gov/genetics/condition/carney-complex"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015285","Source__c":"GARD:0001119","Xref__c":"MONDO:0015285"},{"URL__c":"https://www.nichd.nih.gov/health/topics/carneycomplex"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRKAR1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prkar1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign biphasic tumor of the breast with epithelial and stromal components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010619","HPO_Synonym__c":"Breast fibroadenoma; Breast fibroadenomas; Breast fibroadenosis; Fibroadenosis - breast; Fibroadenosis of breast","HPO_Name__c":"Fibroadenoma of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000845","HPO_Synonym__c":"Elevated circulating somatotropin concentration; Growth hormone excess; Somatotropin excess","HPO_Name__c":"Elevated circulating growth hormone concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100743","HPO_Synonym__c":"Rectal tumor","HPO_Name__c":"Neoplasm of the rectum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000866","HPO_Name__c":"Euthyroid multinodular goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the mobility of ejaculated sperm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012206","HPO_Synonym__c":"Abnormal sperm motility","HPO_Name__c":"Abnormal sperm motility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500011","HPO_Synonym__c":"Moon face; Puffy face; Puffy facies","HPO_Name__c":"Moon facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012887","HPO_Name__c":"Ovarian serous cystadenoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis with origin in a Leydig cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100618","HPO_Name__c":"Leydig cell neoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011672","HPO_Name__c":"Cardiac myxoma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005585","HPO_Synonym__c":"Patchy hyperpigmentation; Spotty increased pigmentation","HPO_Name__c":"Spotty hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100013","HPO_Synonym__c":"Breast tumor; Tumours of the breast","HPO_Name__c":"Neoplasm of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis with origin in a Sertoli cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100619","HPO_Name__c":"Sertoli cell neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myxoma originating in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030428","HPO_Name__c":"Cutaneous myxoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025451","HPO_Name__c":"Testicular adrenal rest tumor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant neoplasm originating from the surface ovarian epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025318","HPO_Synonym__c":"Ovarian epithelial cancer","HPO_Name__c":"Ovarian carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004324","HPO_Synonym__c":"Increased body weight","HPO_Name__c":"Increased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of a gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010785","HPO_Synonym__c":"Gonadal neoplasia","HPO_Name__c":"Gonadal neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100751","HPO_Synonym__c":"Esophageal tumor","HPO_Name__c":"Esophageal neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more cysts of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000138","HPO_Synonym__c":"Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality","HPO_Name__c":"Ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive fat around the stomach and abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012743","HPO_Synonym__c":"Abdominal obesity; Central obesity","HPO_Name__c":"Abdominal obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006753","HPO_Synonym__c":"Stomach tumor","HPO_Name__c":"Neoplasm of the stomach","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030038","HPO_Name__c":"Enchondroma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100814","HPO_Name__c":"Blue nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010732","HPO_Synonym__c":"Eyelid nodules","HPO_Name__c":"Nodular changes affecting the eyelids","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012041","HPO_Synonym__c":"Decreased fertility in males","HPO_Name__c":"Decreased fertility in males","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign nerve sheath tumor composed of Schwann cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100008","HPO_Synonym__c":"Neurilemmoma; Neurinoma; Neurolemmoma; Schwann cell tumor","HPO_Name__c":"Schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002890","HPO_Name__c":"Thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An area of fat accumulation at the back of the neck in the form of a hump.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025383","HPO_Synonym__c":"Buffalo hump","HPO_Name__c":"Dorsocervical fat pad","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces growth hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011760","HPO_Synonym__c":"Pituitary somatotropinoma","HPO_Name__c":"Pituitary growth hormone cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an follicular adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006731","HPO_Name__c":"Follicular thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030075","HPO_Name__c":"Ductal carcinoma in situ","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a papillary adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002895","HPO_Synonym__c":"Papillary carcinoma of thyroid; Thyroid papillary carcinoma","HPO_Name__c":"Papillary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001580","HPO_Name__c":"Pigmented micronodular adrenocortical disease","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100737","HPO_Synonym__c":"Abnormality of the hard palate","HPO_Name__c":"Abnormal hard palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000199","HPO_Synonym__c":"Lingual nodules","HPO_Name__c":"Tongue nodules","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000870","HPO_Synonym__c":"Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess","HPO_Name__c":"Increased circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001074","HPO_Name__c":"Atypical nevi in non-sun exposed areas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001003","HPO_Name__c":"Multiple lentigines","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025274","HPO_Synonym__c":"Mature cystic ovarian teratoma","HPO_Name__c":"Ovarian dermoid cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030269","HPO_Synonym__c":"Elevated serum IGF1; Increased serum IGF1; Increased serum insulin-like growth factor 1","HPO_Name__c":"Increased circulating insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001065","HPO_Synonym__c":"Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae","HPO_Name__c":"Striae distensae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor that originates in the paranasal sinus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030072","HPO_Synonym__c":"Neoplasm of the paranasal sinuses","HPO_Name__c":"Paranasal sinus neoplasm","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm originating in the pharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100638","HPO_Synonym__c":"Neoplasia of the pharynx; Pharyngeal neoplasm","HPO_Name__c":"Neoplasm of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Cardiology","Endocrine","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["atrial myxoma with lentigines"," carney syndrome"," carney's syndrome"," cnc"," lamb"," lamb (lentigines, atrial myxoma, blue nevi) syndrome"," lamb syndrome"," lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome"," myxoma-spotty pigmentation-endocrine overactivity syndrome"," myxoma, spotty pigmentation, and endocrine overactivity"," myxoma, spotty pigmentation, endocrine overactivity syndrome"," name syndrome"," nevi, atrial myxoma, skin myxoma, ephelides syndrome"]}