{"Name":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","DiseaseID__c":"GARD:0016839","id":16839,"encodedName":"familial-adrenal-hypoplasia-with-absent-pituitary-luteinizing-hormone","IsDeleted":false,"Disease_Name_Full__c":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","Xref_IDs__c":"C1859978; C565976; MEDGEN:348510; MONDO:0008731; OMIM:202150; ORPHA:95700","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:95700","Disease_Description__c":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","GARD_Synonym__c":"adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone; familial adrenal hypoplasia with absent pituitary lh; familial adrenal hypoplasia, miniature type","Curated_Disease_Description_Source__c":"ORPHA:95700","Curated_Disease_Description__c":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:95700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008731","ORPHANET_ID__c":"ORPHA:95700","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia suprarrenal familiar con ausencia de la hormona luteinizante hipofisaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipoplasia suprarrenal familiar con ausencia de la hormona luteinizante hipofisaria","Spanish_GARD_Synonym__c":"hipoplasia suprarrenal familiar por ausencia de la lh hipofisaria; hipoplasia suprarrenal familiar tipo miniatura","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 adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus.","Curated_Disease_Description_Source__c":"ORPHA:95700","GARD_Synonym__c":"adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone; familial adrenal hypoplasia with absent pituitary lh; familial adrenal hypoplasia, miniature type","Name":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:95700"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/95700","Source__c":"C1859978; MONDO:0008731","Xref__c":"ORPHA:95700"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859978","Source__c":"C1859978","Xref__c":"C1859978"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348510","Source__c":"C1859978","Xref__c":"MEDGEN:348510"},{"URL__c":"https://www.omim.org/entry/202150","Source__c":"C1859978; MONDO:0008731; ORPHA:95700","Xref__c":"OMIM:202150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565976","Source__c":"MONDO:0008731","Xref__c":"C565976"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008731","Source__c":"GARD:0016839","Xref__c":"MONDO:0008731"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:202150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:202150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:202150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of adrenal hypoplasia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008244","HPO_Synonym__c":"Congenital adrenal gland hypoplasia","HPO_Name__c":"Congenital adrenal hypoplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:202150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating level of luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030344","HPO_Synonym__c":"Decreased circulating luteinising hormone level","HPO_Name__c":"Decreased circulating luteinizing hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone"," familial adrenal hypoplasia with absent pituitary lh"," familial adrenal hypoplasia, miniature type"]}