{"Name":"Prolactin-producing pituitary gland adenoma","DiseaseID__c":"GARD:0004508","id":4508,"encodedName":"prolactin-producing-pituitary-gland-adenoma","IsDeleted":false,"Disease_Name_Full__c":"Prolactin-producing pituitary gland adenoma","Xref_IDs__c":"134209002; C0033375; C3342; D015175; DOID:5394; MEDGEN:10936; MONDO:0010911; ORPHA:2965","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010911","Disease_Description__c":"A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.","GARD_Name__c":"Prolactin-producing pituitary gland adenoma","GARD_Synonym__c":"familial prolactinoma; lactotrope adenoma; lactotroph adenoma; lactotroph cell adenoma; pituitary adenoma, prolactin-secreting; pituitary gland prolactinoma; pituitary lactotrophic adenoma; pituitary prolactin cell adenoma; pituitary prolactinoma; prl producing pituitary gland adenoma; prl-secreting pituitary adenoma; prloma; prolactin producing adenoma of pituitary; prolactin producing adenoma of pituitary gland; prolactin producing adenoma of the pituitary; prolactin producing adenoma of the pituitary gland; prolactin producing pituitary adenoma; prolactin producing pituitary gland adenoma; prolactin secreting adenoma; prolactin secreting adenoma of pituitary; prolactin secreting adenoma of pituitary gland; prolactin secreting adenoma of the pituitary; prolactin secreting adenoma of the pituitary gland; prolactin secreting pituitary adenoma; prolactin secreting pituitary gland adenoma; prolactin-secreting pituitary adenoma; prolactinoma; prolactinoma of pituitary; prolactinoma of pituitary gland; prolactinoma of the pituitary; prolactinoma of the pituitary gland","Curated_Disease_Description_Source__c":"GARD:0004508","Curated_Disease_Description__c":"Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In men, the most common symptoms are decreased sex drive and infertility. Most Prolactinomas occur by chance (sporadically) in people with no family history. In a small number of cases, Prolactinoma may be caused by a genetic condition such as multiple endocrine neoplasia type 1 (MEN1) or familial isolated pituitary adenoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2965","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010911","ORPHANET_ID__c":"ORPHA:2965","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Prolactinoma","Spanish_Description_Source__c":"ORPHA:2965","Spanish_Description__c":"Es una neoplasia de la glándula pituitaria anterior poco frecuente, generalmente benigna, que ocasiona hiperprolactinemia. Las manifestaciones clínicas más comunes son amenorrea e infertilidad en mujeres; e impotencia, disminución de la libido e infertilidad en varones.","Spanish_Disease_Name__c":"prolactinoma","Spanish_GARD_Synonym__c":"adenoma hipofisario secretor de prl; adenoma hipofisario secretor de prolactina; adenoma lactotrofo; adenoma lactotrófico hipofisario; prloma","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":"Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In men, the most common symptoms are decreased sex drive and infertility. Most Prolactinomas occur by chance (sporadically) in people with no family history. In a small number of cases, Prolactinoma may be caused by a genetic condition such as multiple endocrine neoplasia type 1 (MEN1) or familial isolated pituitary adenoma.","Curated_Disease_Description_Source__c":"GARD:0004508","GARD_Synonym__c":"familial prolactinoma; lactotrope adenoma; lactotroph adenoma; lactotroph cell adenoma; pituitary adenoma, prolactin-secreting; pituitary gland prolactinoma; pituitary lactotrophic adenoma; pituitary prolactin cell adenoma; pituitary prolactinoma; prl producing pituitary gland adenoma; prl-secreting pituitary adenoma; prloma; prolactin producing adenoma of pituitary; prolactin producing adenoma of pituitary gland; prolactin producing adenoma of the pituitary; prolactin producing adenoma of the pituitary gland; prolactin producing pituitary adenoma; prolactin producing pituitary gland adenoma; prolactin secreting adenoma; prolactin secreting adenoma of pituitary; prolactin secreting adenoma of pituitary gland; prolactin secreting adenoma of the pituitary; prolactin secreting adenoma of the pituitary gland; prolactin secreting pituitary adenoma; prolactin secreting pituitary gland adenoma; prolactin-secreting pituitary adenoma; prolactinoma; prolactinoma of pituitary; prolactinoma of pituitary gland; prolactinoma of the pituitary; prolactinoma of the pituitary gland","Name":"Prolactin-producing pituitary gland adenoma","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.org/"},{"Account_Name__c":"The Pituitary Society","Website__c":"http://www.pituitarysociety.org"},{"Account_Name__c":"The Pituitary Foundation","Website__c":"https://www.pituitary.org.uk/"},{"Account_Name__c":"Pituitary Network Association","Website__c":"https://pituitary.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"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2965"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2965"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2965"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2965"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0033375"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004508","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2965","Source__c":"C0033375; MONDO:0010911; ORPHA:2965","Xref__c":"ORPHA:2965"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015175","Source__c":"C0033375; MONDO:0010911","Xref__c":"D015175"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5394","Source__c":"MONDO:0010911","Xref__c":"DOID:5394"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=134209002","Source__c":"C0033375; MONDO:0010911","Xref__c":"134209002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10936","Source__c":"C0033375","Xref__c":"MEDGEN:10936"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3342","Source__c":"C0033375; MONDO:0010911","Xref__c":"C3342"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033375","Source__c":"C0033375","Xref__c":"C0033375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=34337008","Source__c":"C0033375","Xref__c":"34337008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006767","Source__c":"C0033375","Xref__c":"HP:0006767"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010911","Source__c":"GARD:0004508","Xref__c":"MONDO:0010911"},{"URL__c":"https://www.niddk.nih.gov/health-information/endocrine-diseases/prolactinoma"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AIP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aip","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012246","HPO_Name__c":"Oculomotor nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001117","HPO_Name__c":"Sudden loss of visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal amount of hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011362","HPO_Synonym__c":"Abnormal hair quantity; Abnormality of hair density","HPO_Name__c":"Abnormal hair quantity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011748","HPO_Synonym__c":"ACTH deficiency; Corticotropin deficiency","HPO_Name__c":"Adrenocorticotropic hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","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:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","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:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030517","HPO_Synonym__c":"Heteronymous hemianopsia","HPO_Name__c":"Heteronymous hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002920","HPO_Name__c":"Decreased circulating ACTH concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. 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Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006897","HPO_Synonym__c":"Abducens nerve palsy; Abducens nerve paralysis; Abducens nerve paresis; Cranial nerve VI palsy; Lateral rectus muscle denervation paresis; Sixth nerve palsy","HPO_Name__c":"Abducens palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","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:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of the iris and ciliary apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007942","HPO_Name__c":"Internal ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. 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There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030521","HPO_Name__c":"Bitemporal hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished sexual desire in female.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030018","HPO_Synonym__c":"Decreased female sex drive","HPO_Name__c":"Decreased female libido","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000868","HPO_Synonym__c":"Decreased fertility in females; Reduced fertility in females","HPO_Name__c":"Decreased fertility in females","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008245","HPO_Synonym__c":"Low thyroid gland function due to abnormal pituitary gland; Secondary hypothyroidism; Thyroid stimulating hormone deficiency; Thyrotropin deficiency; TSH deficient hypothyroidism","HPO_Name__c":"Pituitary hypothyroidism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","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:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100829","HPO_Synonym__c":"Galactorrhoea; Spontaneous milk flow from breast","HPO_Name__c":"Galactorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007011","HPO_Synonym__c":"Trochlear nerve palsy","HPO_Name__c":"Fourth cranial nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012503","HPO_Synonym__c":"Abnormality of the pituitary gland; disorder of pituitary gland","HPO_Name__c":"Abnormal pituitary gland morphology","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the female gonads, i.e., of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000134","HPO_Synonym__c":"Hypogonadism, female","HPO_Name__c":"Female hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adrenal insufficiency secondary to a defect in ACTH production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011735","HPO_Synonym__c":"ACTH deficient adrenal insufficiency","HPO_Name__c":"Adrenocorticotropin deficient adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovulation cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000140","HPO_Synonym__c":"Abnormality of the menstrual cycle","HPO_Name__c":"Abnormality of the menstrual cycle","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000141","HPO_Synonym__c":"Abnormal absence of menstruation","HPO_Name__c":"Amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008240","HPO_Name__c":"Secondary growth hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2965","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","Genetics","Endocrine","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["familial prolactinoma"," lactotrope adenoma"," lactotroph adenoma"," lactotroph cell adenoma"," pituitary adenoma, prolactin-secreting"," pituitary gland prolactinoma"," pituitary lactotrophic adenoma"," pituitary prolactin cell adenoma"," pituitary prolactinoma"," prl producing pituitary gland adenoma"," prl-secreting pituitary adenoma"," prloma"," prolactin producing adenoma of pituitary"," prolactin producing adenoma of pituitary gland"," prolactin producing adenoma of the pituitary"," prolactin producing adenoma of the pituitary gland"," prolactin producing pituitary adenoma"," prolactin producing pituitary gland adenoma"," prolactin secreting adenoma"," prolactin secreting adenoma of pituitary"," prolactin secreting adenoma of pituitary gland"," prolactin secreting adenoma of the pituitary"," prolactin secreting adenoma of the pituitary gland"," prolactin secreting pituitary adenoma"," prolactin secreting pituitary gland adenoma"," prolactin-secreting pituitary adenoma"," prolactinoma"," prolactinoma of pituitary"," prolactinoma of pituitary gland"," prolactinoma of the pituitary"," prolactinoma of the pituitary gland"]}