{"Name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","DiseaseID__c":"GARD:0001465","id":1465,"encodedName":"congenital-lipoid-adrenal-hyperplasia-due-to-star-deficency","IsDeleted":false,"Disease_Name_Full__c":"Congenital lipoid adrenal hyperplasia due to STAR deficency","Xref_IDs__c":"44231009; C0342474; C131426; MEDGEN:83341; MONDO:0008725; OMIM:201710; ORPHA:90790","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008725","Disease_Description__c":"A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.","GARD_Name__c":"Congenital lipoid adrenal hyperplasia due to STAR deficency","GARD_Synonym__c":"20,22-desmolase deficiency; adrenal hyperplasia i; cholesterol desmolase deficiency; cholesterol desmolase-deficient congenital adrenal hyperplasia; cholesterol monooxygenase (side-chain cleaving) deficiency; clah; congenital lipoid adrenal hyperplasia; congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism; defective synthesis of cholesterol desmolase; lipoid adrenal hyperplasia","Curated_Disease_Description_Source__c":"MONDO:0008725","Curated_Disease_Description__c":"A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:90790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008725","ORPHANET_ID__c":"ORPHA:90790","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia suprarrenal congénita lipoide por deficiencia de star","Spanish_Description_Source__c":"ORPHA:90790","Spanish_Description__c":"Es una forma grave de hiperplasia suprarrenal congénita (HSC) caracterizada por insuficiencia suprarrenal grave y síndrome del sexo inverso varones.","Spanish_Disease_Name__c":"hiperplasia suprarrenal congénita lipoide por deficiencia de star","Spanish_GARD_Synonym__c":"hsc lipoide","Category_Linearization__c":"ORPHA:93890","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 severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.","Curated_Disease_Description_Source__c":"MONDO:0008725","GARD_Synonym__c":"20,22-desmolase deficiency; adrenal hyperplasia i; cholesterol desmolase deficiency; cholesterol desmolase-deficient congenital adrenal hyperplasia; cholesterol monooxygenase (side-chain cleaving) deficiency; clah; congenital lipoid adrenal hyperplasia; congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism; defective synthesis of cholesterol desmolase; lipoid adrenal hyperplasia","Name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CARES Foundation","Website__c":"https://caresfoundation.org/"},{"Account_Name__c":"Adrenal Insufficiency United","Website__c":"https://aiunited.org/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90790"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90790"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90790"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342474"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/90790","Source__c":"C0342474; MONDO:0008725; ORPHA:90790","Xref__c":"ORPHA:90790"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342474","Source__c":"C0342474","Xref__c":"C0342474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44231009","Source__c":"C0342474; MONDO:0008725","Xref__c":"44231009"},{"URL__c":"https://www.omim.org/entry/201710","Source__c":"C0342474; MONDO:0008725; ORPHA:90790","Xref__c":"OMIM:201710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83341","Source__c":"C0342474","Xref__c":"MEDGEN:83341"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008725","Source__c":"GARD:0001465","Xref__c":"MONDO:0008725"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131426","Source__c":"C0342474","Xref__c":"C131426"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STAR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90790","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000841","HPO_Name__c":"Hyperactive renin-angiotensin system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; 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In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. 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