{"Name":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","DiseaseID__c":"GARD:0021990","id":21990,"encodedName":"x-linked-keloid-scarring-reduced-joint-mobility-increased-optic-cup-to-disc-ratio-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","Xref_IDs__c":"C5567520; MEDGEN:1798943; MONDO:0044617; ORPHA:482606","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"ORPHA:482606","Disease_Description__c":"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.","GARD_Name__c":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","GARD_Synonym__c":"x-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome","Curated_Disease_Description_Source__c":"ORPHA:482606","Curated_Disease_Description__c":"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:482606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044617","ORPHANET_ID__c":"ORPHA:482606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome ligado al cromosoma x de cicatrización queloide-movilidad articular reducida-aumento de la relación copa/disco óptico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome ligado al cromosoma x de cicatrización queloide-movilidad articular reducida-aumento de la relación copa/disco óptico","Spanish_GARD_Synonym__c":null,"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 genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.","Curated_Disease_Description_Source__c":"ORPHA:482606","GARD_Synonym__c":"x-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome","Name":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc rati","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:482606"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:482606"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:482606"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:482606"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567520","Source__c":"C5567520","Xref__c":"C5567520"},{"URL__c":"https://www.orpha.net/en/disease/detail/482606","Source__c":"C5567520; MONDO:0044617; ORPHA:482606","Xref__c":"ORPHA:482606"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798943","Source__c":"C5567520","Xref__c":"MEDGEN:1798943"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044617","Source__c":"GARD:0021990","Xref__c":"MONDO:0044617"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172692006","Source__c":"C5567520","Xref__c":"1172692006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Ophthalmology","Dermatology","Neuro-Ophthalmology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["x-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome"]}