{"Name":"Steroid dehydrogenase deficiency-dental anomalies syndrome","DiseaseID__c":"GARD:0005015","id":5015,"encodedName":"steroid-dehydrogenase-deficiency-dental-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Steroid dehydrogenase deficiency-dental anomalies syndrome","Xref_IDs__c":"723583009; C2931508; C537490; MEDGEN:419431; MONDO:0017904; ORPHA:3196","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017904","Disease_Description__c":"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.","GARD_Name__c":"Steroid dehydrogenase deficiency-dental anomalies syndrome","GARD_Synonym__c":"lyngstadaas syndrome; steroid dehydrogenase deficiency and dental anomaly syndrome","Curated_Disease_Description_Source__c":"MONDO:0017904","Curated_Disease_Description__c":"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3196","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017904","ORPHANET_ID__c":"ORPHA:3196","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deficiencia de esteroide deshidrogenasa-anomalías dentales","Spanish_Description_Source__c":"ORPHA:3196","Spanish_Description__c":"Es una enfermedad metabólica del hígado poco frecuente caracterizada por enfermedad hepática progresiva y cirrosis precoz debido al acúmulo de metabolitos tóxicos del colesterol detectables en la bilis, el plasma y la orina, en asociación con anomalías dentales como hipomineralización generalizada e hipoplasia del esmalte, así como la presencia de dientes supernumerarios. No ha habido más descripciones en la literatura desde 1996.","Spanish_Disease_Name__c":"síndrome de deficiencia de esteroide deshidrogenasa-anomalías dentales","Spanish_GARD_Synonym__c":"síndrome de lyngtadaas","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 rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.","Curated_Disease_Description_Source__c":"MONDO:0017904","GARD_Synonym__c":"lyngstadaas syndrome; steroid dehydrogenase deficiency and dental anomaly syndrome","Name":"Steroid dehydrogenase deficiency-dental anomalies syndrome","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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3196"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723583009","Source__c":"C2931508; MONDO:0017904","Xref__c":"723583009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537490","Source__c":"MONDO:0017904","Xref__c":"C537490"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419431","Source__c":"C2931508","Xref__c":"MEDGEN:419431"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931508","Source__c":"C2931508","Xref__c":"C2931508"},{"URL__c":"https://www.orpha.net/en/disease/detail/3196","Source__c":"C2931508; MONDO:0017904; ORPHA:3196","Xref__c":"ORPHA:3196"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017904","Source__c":"GARD:0005015","Xref__c":"MONDO:0017904"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Odontology","Pediatrics"]},"synonyms":["lyngstadaas syndrome"," steroid dehydrogenase deficiency and dental anomaly syndrome"]}