{"Name":"Camptodactyly-taurinuria syndrome","DiseaseID__c":"GARD:0001069","id":1069,"encodedName":"camptodactyly-taurinuria-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly-taurinuria syndrome","Xref_IDs__c":"733466005; C4518792; C537972; MEDGEN:1385639; MONDO:0015272; ORPHA:1325","USA_Estimate__c":"1,000","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":"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":1,"Description_Source__c":"MONDO:0015272","Disease_Description__c":"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.","GARD_Name__c":"Camptodactyly-taurinuria syndrome","GARD_Synonym__c":"camptodactyly taurinuria syndrome; familial streblodactyly with amino-aciduria","Curated_Disease_Description_Source__c":"MONDO:0015272","Curated_Disease_Description__c":"A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:1325","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015272","ORPHANET_ID__c":"ORPHA:1325","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de camptodactilia-taurinúria","Spanish_Description_Source__c":"ORPHA:1325","Spanish_Description__c":"El síndrome de camptodactilia-taurinúria es un síndrome malformativo congénito caracterizado por la asociación de campodactilia permanente de los dedos (consulte este término) con la excreción incrementada de taurina por la orina. La campodactilia afecta principalmente al dedo meñique, aunque cualquier dedo puede estar afectado. La enfermedad se ha descrito en 17 pacientes afectados de 4 familias no relacionadas. Se ha sugerido una herencia autosómica dominante. No se han encontrado más descripciones en la literatura desde 1996.","Spanish_Disease_Name__c":"síndrome de camptodactilia-taurinúria","Spanish_GARD_Synonym__c":"estreblodactilia familiar con amino-aciduria","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 congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.","Curated_Disease_Description_Source__c":"MONDO:0015272","GARD_Synonym__c":"camptodactyly taurinuria syndrome; familial streblodactyly with amino-aciduria","Name":"Camptodactyly-taurinuria 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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1325"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733466005","Source__c":"C4518792; MONDO:0015272","Xref__c":"733466005"},{"URL__c":"https://www.orpha.net/en/disease/detail/1325","Source__c":"C4518792; MONDO:0015272; ORPHA:1325","Xref__c":"ORPHA:1325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537972","Source__c":"MONDO:0015272","Xref__c":"C537972"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518792","Source__c":"C4518792","Xref__c":"C4518792"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015272","Source__c":"GARD:0001069","Xref__c":"MONDO:0015272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1385639","Source__c":"C4518792","Xref__c":"MEDGEN:1385639"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001836","HPO_Synonym__c":"Camptodactyly of feet","HPO_Name__c":"Camptodactyly of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of taurine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003166","HPO_Synonym__c":"Increased urinary taurine","HPO_Name__c":"Increased urinary taurine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["camptodactyly taurinuria syndrome"," familial streblodactyly with amino-aciduria"]}