{"Name":"Hereditary sclerosing poikiloderma","DiseaseID__c":"GARD:0017136","id":17136,"encodedName":"hereditary-sclerosing-poikiloderma","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sclerosing poikiloderma","Xref_IDs__c":"238834002; C0343094; C562824; MEDGEN:91006; MONDO:0008261; OMIM:173700; ORPHA:221039","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:221039","Disease_Description__c":"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.","GARD_Name__c":"Hereditary sclerosing poikiloderma","GARD_Synonym__c":"hereditary sclerosing poikiloderma, weary type; weary-kindler syndrome","Curated_Disease_Description_Source__c":"ORPHA:221039","Curated_Disease_Description__c":"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:221039","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008261","ORPHANET_ID__c":"ORPHA:221039","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poiquilodermia esclerosante hereditaria tipo weary","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"poiquilodermia esclerosante hereditaria tipo weary","Spanish_GARD_Synonym__c":null,"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":"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:221039","GARD_Synonym__c":"hereditary sclerosing poikiloderma, weary type; weary-kindler syndrome","Name":"Hereditary sclerosing poikiloderma","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:221039"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562824","Source__c":"MONDO:0008261","Xref__c":"C562824"},{"URL__c":"https://www.orpha.net/en/disease/detail/221039","Source__c":"C0343094; MONDO:0008261","Xref__c":"ORPHA:221039"},{"URL__c":"https://www.omim.org/entry/173700","Source__c":"C0343094; MONDO:0008261; ORPHA:221039","Xref__c":"OMIM:173700"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343094","Source__c":"C0343094","Xref__c":"C0343094"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91006","Source__c":"C0343094","Xref__c":"MEDGEN:91006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238834002","Source__c":"C0343094","Xref__c":"238834002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008261","Source__c":"GARD:0017136","Xref__c":"MONDO:0008261"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:173700","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173700","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007618","HPO_Synonym__c":"Skin calcification","HPO_Name__c":"Subcutaneous calcification","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173700","Feature__r":{"HPO_Description__c":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001029","HPO_Name__c":"Poikiloderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:173700","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary sclerosing poikiloderma, weary type"," weary-kindler syndrome"]}