{"Name":"Cortisone reductase deficiency","DiseaseID__c":"GARD:0009882","id":9882,"encodedName":"cortisone-reductase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Cortisone reductase deficiency","Xref_IDs__c":"124138004; C1291245; C536447; DOID:0090139; MEDGEN:266223; MONDO:0000193; OMIMPS:604931; ORPHA:168588","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0000193","Disease_Description__c":"A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.","GARD_Name__c":"Cortisone reductase deficiency","GARD_Synonym__c":"11-beta-hydroxysteroid dehydrogenase deficiency type 1; cortrd; crd; deficiency of (r)-20-hydroxysteroid dehydrogenase; deficiency of cortisone reductase; hyperandrogenism due to cortisone reductase deficiency","Curated_Disease_Description_Source__c":"MONDO:0000193","Curated_Disease_Description__c":"A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:168588","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000193","ORPHANET_ID__c":"ORPHA:168588","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperandrogenismo por deficiencia de cortisona reductasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperandrogenismo por deficiencia de cortisona reductasa","Spanish_GARD_Synonym__c":"deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo 1; deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo i","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":"A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.","Curated_Disease_Description_Source__c":"MONDO:0000193","GARD_Synonym__c":"11-beta-hydroxysteroid dehydrogenase deficiency type 1; cortrd; crd; deficiency of (r)-20-hydroxysteroid dehydrogenase; deficiency of cortisone reductase; hyperandrogenism due to cortisone reductase deficiency","Name":"Cortisone reductase deficiency","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168588"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:168588"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:168588"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009882","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124138004","Source__c":"C1291245; MONDO:0000193","Xref__c":"124138004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536447","Source__c":"MONDO:0000193","Xref__c":"C536447"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090139","Source__c":"MONDO:0000193","Xref__c":"DOID:0090139"},{"URL__c":"https://www.orpha.net/en/disease/detail/168588","Source__c":"C1291245; MONDO:0000193","Xref__c":"ORPHA:168588"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291245","Source__c":"C1291245","Xref__c":"C1291245"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266223","Source__c":"C1291245","Xref__c":"MEDGEN:266223"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604931","Source__c":"MONDO:0000193","Xref__c":"OMIMPS:604931"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000193","Source__c":"GARD:0009882","Xref__c":"MONDO:0000193"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSD11B1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"H6PD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onset of adrenarche at an earlier age than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012412","HPO_Name__c":"Premature adrenarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025436","HPO_Synonym__c":"Elevated serum 21-hydroxyprogesterone; Elevated serum deoxycorticosterone","HPO_Name__c":"Elevated serum 11-deoxycortisol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of adrenal hyperplasia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008258","HPO_Name__c":"Congenital adrenal hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An decreased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003351","HPO_Synonym__c":"Decreased circulating renin level; Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity","HPO_Name__c":"Decreased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","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:168588","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030348","HPO_Synonym__c":"Hyperandrogenemia; Increased circulating androgen level","HPO_Name__c":"Increased circulating androgen concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031186","HPO_Name__c":"Abnormal circulating deoxycorticosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Pediatrics"]},"synonyms":["11-beta-hydroxysteroid dehydrogenase deficiency type 1"," cortrd"," crd"," deficiency of (r)-20-hydroxysteroid dehydrogenase"," deficiency of cortisone reductase"," hyperandrogenism due to cortisone reductase deficiency"]}