{"Name":"Multiple endocrine neoplasia type 4","DiseaseID__c":"GARD:0017275","id":17275,"encodedName":"multiple-endocrine-neoplasia-type-4","IsDeleted":false,"Disease_Name_Full__c":"Multiple endocrine neoplasia type 4","Xref_IDs__c":"715907003; C157449; C1970712; C567059; DOID:0080137; MEDGEN:373469; MONDO:0012552; NBK594826; OMIM:610755; ORPHA:276152","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012552","Disease_Description__c":"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.","GARD_Name__c":"Multiple endocrine neoplasia type 4","GARD_Synonym__c":"cdkn1b multiple endocrine neoplasia; men (multiple endocrine neoplasia) 4 syndrome; men4; multiple endocrine neoplasia caused by mutation in cdkn1b; multiple endocrine neoplasia, type iv","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Multiple endocrine neoplasia type 4 (MEN4) is an extremely rare inherited cancer syndrome. It is characterized by the development of tumors in the parathyroid and anterior pituitary glands. The parathyroid glands are located near the thyroid gland in the neck. Anterior pituitary tumors occur in the pituitary gland, which is located at the base of the brain. Other tumors that may be associated with MEN4 include adrenal gland tumors. Adrenal gland tumors which are located on top of the kidneys, and renal tumors occurring in the kidneys. This condition can also cause tumors that occur in the reproductive organs (ovaries or testes).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:276152","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012552","ORPHANET_ID__c":"ORPHA:276152","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neoplasia endocrina múltiple tipo 4","Spanish_Description_Source__c":"ORPHA:276152","Spanish_Description__c":"Es una forma muy poco frecuente de NEM, un síndrome de cáncer hereditario caracterizado por tumores en la glándula paratirodes y en la hipófisis anterior, posiblemente asociado a tumores suprarrenales, renales y de los órganos reproductores.","Spanish_Disease_Name__c":"neoplasia endocrina múltiple tipo 4","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Multiple endocrine neoplasia type 4 (MEN4) is an extremely rare inherited cancer syndrome. It is characterized by the development of tumors in the parathyroid and anterior pituitary glands. The parathyroid glands are located near the thyroid gland in the neck. Anterior pituitary tumors occur in the pituitary gland, which is located at the base of the brain. Other tumors that may be associated with MEN4 include adrenal gland tumors. Adrenal gland tumors which are located on top of the kidneys, and renal tumors occurring in the kidneys. This condition can also cause tumors that occur in the reproductive organs (ovaries or testes).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"cdkn1b multiple endocrine neoplasia; men (multiple endocrine neoplasia) 4 syndrome; men4; multiple endocrine neoplasia caused by mutation in cdkn1b; multiple endocrine neoplasia, type iv","Name":"Multiple endocrine neoplasia type 4","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders UK","Website__c":"https://www.amend.org.uk/"},{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders","Website__c":"https://amendusa.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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:276152"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK594826","Source__c":"Gene Review","Xref__c":"NBK594826"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C157449","Source__c":"C1970712; MONDO:0012552","Xref__c":"C157449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373469","Source__c":"C1970712","Xref__c":"MEDGEN:373469"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567059","Source__c":"MONDO:0012552","Xref__c":"C567059"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080137","Source__c":"MONDO:0012552","Xref__c":"DOID:0080137"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715907003","Source__c":"C1970712; MONDO:0012552","Xref__c":"715907003"},{"URL__c":"https://www.omim.org/entry/610755","Source__c":"C1970712; MONDO:0012552; ORPHA:276152","Xref__c":"OMIM:610755"},{"URL__c":"https://www.orpha.net/en/disease/detail/276152","Source__c":"C1970712; MONDO:0012552; ORPHA:276152","Xref__c":"ORPHA:276152"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970712","Source__c":"C1970712","Xref__c":"C1970712"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012552","Source__c":"GARD:0017275","Xref__c":"MONDO:0012552"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDKN1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkn1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:276152","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:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006780","HPO_Synonym__c":"Parathyroid Cancer","HPO_Name__c":"Parathyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in large bile ducts outside the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012334","HPO_Name__c":"Extrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002893","HPO_Synonym__c":"Noncancerous tumor in pituitary gland; Pituitary gland adenoma","HPO_Name__c":"Pituitary adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased concentration of cortisol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012030","HPO_Synonym__c":"High urine cortisol level","HPO_Name__c":"Increased urinary cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign tumor of the parathyroid gland that can cause hyperparathyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002897","HPO_Synonym__c":"Parathyroid adenomas","HPO_Name__c":"Parathyroid adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","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:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006767","HPO_Synonym__c":"Pituitary prolactinoma; Prolactin-secreting pituitary adenoma; Prolactinoma","HPO_Name__c":"Pituitary prolactin cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","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:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008291","HPO_Synonym__c":"ACTH-producing pituitary adenoma; Corticotropin-secreting pituitary adenoma","HPO_Name__c":"Pituitary corticotropic cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006772","HPO_Synonym__c":"Angiomyolipoma; Kidney angiomyolipoma","HPO_Name__c":"Renal angiomyolipoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor that originates from a neuroendocrine cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100634","HPO_Synonym__c":"Neuroendocrine neoplasia","HPO_Name__c":"Neuroendocrine neoplasm","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adrenocortical adenomas are benign tumors of the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008256","HPO_Synonym__c":"Adrenocortical adenomas","HPO_Name__c":"Adrenocortical adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor of the uterine cervix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030079","HPO_Name__c":"Cervix cancer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007449","HPO_Name__c":"Confetti-like hypopigmented macules","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004398","HPO_Synonym__c":"Sore in the lining of gastrointestinal tract","HPO_Name__c":"Peptic ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor originating from the epithelial cells of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100522","HPO_Name__c":"Thymoma","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the function of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012091","HPO_Name__c":"Abnormality of pancreas physiology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002044","HPO_Name__c":"Zollinger-Ellison syndrome","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008283","HPO_Synonym__c":"High blood insulin levels while fasting","HPO_Name__c":"Fasting hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Angiofibroma consist of many often dilated vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010615","HPO_Name__c":"Angiofibromas","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a adenoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000854","HPO_Name__c":"Thyroid adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","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:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011761","HPO_Synonym__c":"Clinically silent pituitary adenoma; Hormonally silent pituitary adenoma; Non-functional pituitary adenoma; Silent pituitary adenoma","HPO_Name__c":"Pituitary null cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100570","HPO_Synonym__c":"Carcinoid","HPO_Name__c":"Carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030445","HPO_Synonym__c":"Lung carcinoid tumor","HPO_Name__c":"Pulmonary carcinoid tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012197","HPO_Synonym__c":"Pancreatic insulinoma","HPO_Name__c":"Insulinoma","Feature_System__c":"Nervous System; Endocrine System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of subcutaneous lipoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001031","HPO_Name__c":"Subcutaneous lipoma","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated concentration of glucagon in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030688","HPO_Name__c":"Increased glucagon level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the parathyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008208","HPO_Synonym__c":"Enlarged parathyroid glands","HPO_Name__c":"Parathyroid hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100633","HPO_Synonym__c":"Inflammation of the esophagus; Oesophagitis","HPO_Name__c":"Esophagitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"]},"synonyms":["cdkn1b multiple endocrine neoplasia"," men (multiple endocrine neoplasia) 4 syndrome"," men4"," multiple endocrine neoplasia caused by mutation in cdkn1b"," multiple endocrine neoplasia, type iv"]}