{"Name":"Familial hyperprolactinemia","DiseaseID__c":"GARD:0017634","id":17634,"encodedName":"familial-hyperprolactinemia","IsDeleted":false,"Disease_Name_Full__c":"Familial hyperprolactinemia","Xref_IDs__c":"763715007; C4706551; MEDGEN:1645317; MONDO:0014250; OMIM:615555; ORPHA:397685","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014250","Disease_Description__c":"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.","GARD_Name__c":"Familial hyperprolactinemia","GARD_Synonym__c":"familial isolated prolactin receptor deficiency; hereditary hyperprolactinemia (disease); hprl","Curated_Disease_Description_Source__c":"MONDO:0014250","Curated_Disease_Description__c":"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:397685","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014250","ORPHANET_ID__c":"ORPHA:397685","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperprolactinemia familiar","Spanish_Description_Source__c":"ORPHA:397685","Spanish_Description__c":"La hiperprolactinemia familiar es un trastorno endocrino, genético y poco frecuente, caracterizado por niveles séricos de prolactina persistentemente elevados (no asociados con la gestación, el puerperio, el consumo de medicamentos o un tumor pituitario) en varios miembros de una familia. Clínicamente se manifiesta con los signos generalmente observados en la hiperprolactinemia, tales como: amenorrea y galactorrea secundaria no-respondedora a acetato de medroxiprogesterona (AMP) en mujeres, e hipogonadismo y disfunción sexual inducida por disminución de los niveles de testosterona en pacientes varones. También se ha descrito la presencia de oligomenorrea e infertilidad primaria en algunas mujeres.","Spanish_Disease_Name__c":"hiperprolactinemia familiar","Spanish_GARD_Synonym__c":"deficiencia aislada del receptor de prolactina familiar","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":"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.","Curated_Disease_Description_Source__c":"MONDO:0014250","GARD_Synonym__c":"familial isolated prolactin receptor deficiency; hereditary hyperprolactinemia (disease); hprl","Name":"Familial hyperprolactinemia","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:397685"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706551","Source__c":"C4706551","Xref__c":"C4706551"},{"URL__c":"https://www.orpha.net/en/disease/detail/397685","Source__c":"C4706551; MONDO:0014250; ORPHA:397685","Xref__c":"ORPHA:397685"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1645317","Source__c":"C4706551","Xref__c":"MEDGEN:1645317"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763715007","Source__c":"C4706551; MONDO:0014250","Xref__c":"763715007"},{"URL__c":"https://www.omim.org/entry/615555","Source__c":"MONDO:0014250; ORPHA:397685","Xref__c":"OMIM:615555"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014250","Source__c":"GARD:0017634","Xref__c":"MONDO:0014250"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRLR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:397685","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397685","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397685","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012886","HPO_Name__c":"Hemorrhagic ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397685","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397685","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:397685","HPO_Frequency__c":"Occasional (5-29%)","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:397685","HPO_Frequency__c":"Occasional (5-29%)","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:397685","HPO_Frequency__c":"Occasional (5-29%)","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:397685","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Urologist"],"Account":["Infertility"]},"synonyms":["familial isolated prolactin receptor deficiency"," hereditary hyperprolactinemia (disease)"," hprl"]}