{"Name":"Pituitary carcinoma","DiseaseID__c":"GARD:0009371","id":9371,"encodedName":"pituitary-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Pituitary carcinoma","Xref_IDs__c":"128665000; 254955001; C0346300; C4536; DOID:4916; HP:0011763; MEDGEN:91096; MONDO:0017582; ORPHA:300385","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017582","Disease_Description__c":"A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.","GARD_Name__c":"Pituitary carcinoma","GARD_Synonym__c":"carcinoma of pituitary; carcinoma of pituitary gland; carcinoma of the pituitary; carcinoma of the pituitary gland; pituitary adenocarcinoma; pituitary adenocarcinoma (disease); pituitary gland adenocarcinoma; pituitary gland carcinoma","Curated_Disease_Description_Source__c":"MONDO:0017582","Curated_Disease_Description__c":"A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:300385","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017582","ORPHANET_ID__c":"ORPHA:300385","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma hipofisario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma hipofisario","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":"A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.","Curated_Disease_Description_Source__c":"MONDO:0017582","GARD_Synonym__c":"carcinoma of pituitary; carcinoma of pituitary gland; carcinoma of the pituitary; carcinoma of the pituitary gland; pituitary adenocarcinoma; pituitary adenocarcinoma (disease); pituitary gland adenocarcinoma; pituitary gland carcinoma","Name":"Pituitary carcinoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:300385"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0346300","Source__c":"C0346300","Xref__c":"C0346300"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254955001","Source__c":"C0346300; MONDO:0017582","Xref__c":"254955001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91096","Source__c":"C0346300","Xref__c":"MEDGEN:91096"},{"URL__c":"https://www.orpha.net/en/disease/detail/300385","Source__c":"C0346300; MONDO:0017582; ORPHA:300385","Xref__c":"ORPHA:300385"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4536","Source__c":"C0346300; MONDO:0017582","Xref__c":"C4536"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4916","Source__c":"MONDO:0017582","Xref__c":"DOID:4916"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017582","Source__c":"GARD:0009371","Xref__c":"MONDO:0017582"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128665000","Source__c":"C0346300","Xref__c":"128665000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011763","Source__c":"C0346300","Xref__c":"HP:0011763"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011762","HPO_Synonym__c":"Pituitary thyrotropinoma","HPO_Name__c":"Pituitary thyrotropic cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011763","HPO_Name__c":"Pituitary carcinoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007987","HPO_Name__c":"Progressive visual field defects","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the control or production of movement in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011442","HPO_Synonym__c":"Abnormality of central motor function","HPO_Name__c":"Abnormal central motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100561","HPO_Name__c":"Spinal cord lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased size of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012505","HPO_Name__c":"Enlarged pituitary gland","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003154","HPO_Synonym__c":"High blood corticotropin levels; Increased circulating ACTH level; Increased plasma ACTH","HPO_Name__c":"Increased circulating ACTH level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Very frequent (80-99%)","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:300385","HPO_Frequency__c":"Very frequent (80-99%)","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:300385","HPO_Frequency__c":"Very frequent (80-99%)","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:300385","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces gonadotropins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011759","HPO_Synonym__c":"Pituitary gonadotropinoma","HPO_Name__c":"Pituitary gonadotropic cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100836","HPO_Synonym__c":"Malignant neoplasm of the CNS","HPO_Name__c":"Malignant neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040075","HPO_Name__c":"Hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial or complete loss of vision in one half of the visual field of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012377","HPO_Synonym__c":"Hemianopsia","HPO_Name__c":"Hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","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:300385","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010514","HPO_Name__c":"Hyperpituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300385","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["carcinoma of pituitary"," carcinoma of pituitary gland"," carcinoma of the pituitary"," carcinoma of the pituitary gland"," pituitary adenocarcinoma"," pituitary adenocarcinoma (disease)"," pituitary gland adenocarcinoma"," pituitary gland carcinoma"]}