{"Name":"X-linked congenital generalized hypertrichosis","DiseaseID__c":"GARD:0002863","id":2863,"encodedName":"x-linked-congenital-generalized-hypertrichosis","IsDeleted":false,"Disease_Name_Full__c":"X-linked congenital generalized hypertrichosis","Xref_IDs__c":"C538388; C5887323; MEDGEN:1856186; MONDO:0010614; OMIM:307150; ORPHA:79495","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010614","Disease_Description__c":"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.","GARD_Name__c":"X-linked congenital generalized hypertrichosis","GARD_Synonym__c":"chromosome xq27.1 interchromosomal insertion syndrome; congenital generalised hypertrichosis, macias-flores type; congenital generalized hypertrichosis, macias-flores type; hypertrichosis, congenital generalized; hypertrichosis, congenital generalized, 2; hypertrichosis, congenital generalized, x-linked dominant; macias flores-garcia cruz-rivera syndrome","Curated_Disease_Description_Source__c":"GARD:0002863","Curated_Disease_Description__c":"X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome. Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79495","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010614","ORPHANET_ID__c":"ORPHA:79495","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertricosis congénita generalizada ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:79495","Spanish_Description__c":"La hipertricosis generalizada congénita ligada al X es un tipo extremadamente poco frecuente de hipertricosis lanuginosa congénita, una enfermedad congénita de la piel, que se caracteriza por un sobrecrecimiento del pelo de todo el cuerpo en varones, y por un sobrecrecimiento del pelo moderado y asimétrico en mujeres. Está asociada con un dismorfismo facial leve (fosas nasales en anteversión, prognatismo moderado) y, en una familia, también estaba asociado con anomalías dentales y sordera.","Spanish_Disease_Name__c":"hipertricosis congénita generalizada ligada al cromosoma x","Spanish_GARD_Synonym__c":"hipertricosis congénita generalizada tipo macias-flores; síndrome de macias flores-garcia cruz-rivera","Category_Linearization__c":"ORPHA:89826","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":"X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome. Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome.","Curated_Disease_Description_Source__c":"GARD:0002863","GARD_Synonym__c":"chromosome xq27.1 interchromosomal insertion syndrome; congenital generalised hypertrichosis, macias-flores type; congenital generalized hypertrichosis, macias-flores type; hypertrichosis, congenital generalized; hypertrichosis, congenital generalized, 2; hypertrichosis, congenital generalized, x-linked dominant; macias flores-garcia cruz-rivera syndrome","Name":"X-linked congenital generalized hypertrichosis","estimateUsa":""}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002863","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79495","Source__c":"C5887323; MONDO:0010614","Xref__c":"ORPHA:79495"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538388","Source__c":"MONDO:0010614","Xref__c":"C538388"},{"URL__c":"https://www.omim.org/entry/307150","Source__c":"C5887323; MONDO:0010614; ORPHA:79495","Xref__c":"OMIM:307150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1856186","Source__c":"C5887323","Xref__c":"MEDGEN:1856186"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010614","Source__c":"GARD:0002863","Xref__c":"MONDO:0010614"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5887323","Source__c":"C5887323","Xref__c":"C5887323"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:307150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:307150","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:307150","Feature__r":{"HPO_Description__c":"A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004540","HPO_Synonym__c":"Congenital generalized hypertrichosis; Hypertrichosis universalis","HPO_Name__c":"Congenital, generalized hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["chromosome xq27.1 interchromosomal insertion syndrome"," congenital generalised hypertrichosis, macias-flores type"," congenital generalized hypertrichosis, macias-flores type"," hypertrichosis, congenital generalized"," hypertrichosis, congenital generalized, 2"," hypertrichosis, congenital generalized, x-linked dominant"," macias flores-garcia cruz-rivera syndrome"]}