{"Name":"Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss","DiseaseID__c":"GARD:0017951","id":17951,"encodedName":"epidermolysis-bullosa-simplex-6-generalized-with-scarring-and-hair-loss","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss","Xref_IDs__c":"C4310631; MEDGEN:934598; MONDO:0015006; OMIM:617294; ORPHA:508529","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:508529","Disease_Description__c":"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.","GARD_Name__c":"Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss","GARD_Synonym__c":"ebs6; ebssh; epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy; epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy; epidermolysis bullosa simplex, generalized, with scarring and hair loss; epidermolysis bullosa simplex, generalized, with scarring and hair loss; ebssh; generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; intermediate ebs with cardiomyopathy; intermediate epidermolysis bullosa simplex with cardiomyopathy","Curated_Disease_Description_Source__c":"ORPHA:508529","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:508529","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015006","ORPHANET_ID__c":"ORPHA:508529","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple intermedia con miocardiopatía","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epidermólisis ampollosa simple intermedia con miocardiopatía","Spanish_GARD_Synonym__c":"ebs intermedia con miocardiopatía; epidermólisis bullosa simple intermedia con miocardiopatía","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, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.","Curated_Disease_Description_Source__c":"ORPHA:508529","GARD_Synonym__c":"ebs6; ebssh; epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy; epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy; epidermolysis bullosa simplex, generalized, with scarring and hair loss; epidermolysis bullosa simplex, generalized, with scarring and hair loss; ebssh; generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; intermediate ebs with cardiomyopathy; intermediate epidermolysis bullosa simplex with cardiomyopathy","Name":"Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"}],"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":"Neonatal","Provided_By__c":"ORPHA:508529"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1369","Source__c":"Gene Review","Xref__c":"NBK1369"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934598","Source__c":"C4310631","Xref__c":"MEDGEN:934598"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310631","Source__c":"C4310631","Xref__c":"C4310631"},{"URL__c":"https://www.orpha.net/en/disease/detail/508529","Source__c":"C4310631; MONDO:0015006","Xref__c":"ORPHA:508529"},{"URL__c":"https://www.omim.org/entry/617294","Source__c":"C4310631; MONDO:0015006; ORPHA:508529","Xref__c":"OMIM:617294"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015006","Source__c":"GARD:0017951","Xref__c":"MONDO:0015006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLHL24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (atrophy) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004334","HPO_Synonym__c":"Atrophic skin; Skin atrophy; Skin degeneration","HPO_Name__c":"Dermal atrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickened toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008401","HPO_Synonym__c":"Overgrowth and curving of toenails","HPO_Name__c":"Onychogryphosis of toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","Feature__r":{"HPO_Description__c":"Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001810","HPO_Synonym__c":"Dystrophic toenail changes; Poor toenail formation","HPO_Name__c":"Dystrophic toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse abnormal thickening of the skin on the palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007447","HPO_Synonym__c":"Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar","HPO_Name__c":"Diffuse palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ebs6"," ebssh"," epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"," epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy"," epidermolysis bullosa simplex, generalized, with scarring and hair loss"," epidermolysis bullosa simplex, generalized, with scarring and hair loss"," ebssh"," generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss"," generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss"," intermediate ebs with cardiomyopathy"," intermediate epidermolysis bullosa simplex with cardiomyopathy"]}