{"Name":"Generalized dominant dystrophic epidermolysis bullosa","DiseaseID__c":"GARD:0002139","id":2139,"encodedName":"generalized-dominant-dystrophic-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Generalized dominant dystrophic epidermolysis bullosa","Xref_IDs__c":"75875004; C0432322; C205633; DOID:0080224; MEDGEN:140935; MONDO:0007549; OMIM:131750; ORPHA:231568","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007549","Disease_Description__c":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.","GARD_Name__c":"Generalized dominant dystrophic epidermolysis bullosa","GARD_Synonym__c":"albopapuloid dystrophic epidermolysis bullosa of pasini; autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types; autosomal dominant generalized dystrophic epidermolysis bullosa; ddeb; ddeb (dominant dystrophic epidermolysis bullosa) intermediate; ddeb-gen; ddeb, generalised; ddeb, generalized; ddeb, pasini and cockayne-touraine types; dominant dystrophic epidermolysis bullosa of pasini; dominant dystrophic epidermolysis bullosa, albopapular type; dystrophic epidermolysis bullosa, autosomal dominant; epidermolysis bullosa dystrophica, ad; epidermolysis bullosa dystrophica, autosomal dominant; epidermolysis bullosa dystrophica, pasini type; generalized ddeb; generalized ddeb (generalized dystrophic epidermolysis bullosa)","Curated_Disease_Description_Source__c":"GARD:0002139","Curated_Disease_Description__c":"Autosomal dominant generalized dystrophic epidermolysis bullosa (generalized DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. Generalized DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of generalized DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by genetic changes in the COL7A1 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231568","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007549","ORPHANET_ID__c":"ORPHA:231568","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa distrófica generalizada autosómica dominante","Spanish_Description_Source__c":"ORPHA:231568","Spanish_Description__c":"Es una epidermólisis ampollosa distrófica (EAD) poco frecuente caracterizada por ampollas generalizadas, formación de milia, cicatrización atrófica y distrofia ungueal.","Spanish_Disease_Name__c":"epidermólisis ampollosa distrófica generalizada autosómica dominante","Spanish_GARD_Synonym__c":"ddeb generalizada; epidermólisis bullosa distrófica generalizada autosómica dominante","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":"Autosomal dominant generalized dystrophic epidermolysis bullosa (generalized DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. Generalized DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of generalized DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by genetic changes in the COL7A1 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0002139","GARD_Synonym__c":"albopapuloid dystrophic epidermolysis bullosa of pasini; autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types; autosomal dominant generalized dystrophic epidermolysis bullosa; ddeb; ddeb (dominant dystrophic epidermolysis bullosa) intermediate; ddeb-gen; ddeb, generalised; ddeb, generalized; ddeb, pasini and cockayne-touraine types; dominant dystrophic epidermolysis bullosa of pasini; dominant dystrophic epidermolysis bullosa, albopapular type; dystrophic epidermolysis bullosa, autosomal dominant; epidermolysis bullosa dystrophica, ad; epidermolysis bullosa dystrophica, autosomal dominant; epidermolysis bullosa dystrophica, pasini type; generalized ddeb; generalized ddeb (generalized dystrophic epidermolysis bullosa)","Name":"Generalized dominant dystrophic epidermolysis bullosa","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231568"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231568"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002139","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1304","Source__c":"Gene Review","Xref__c":"NBK1304"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140935","Source__c":"C0432322","Xref__c":"MEDGEN:140935"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=75875004","Source__c":"C0432322; MONDO:0007549","Xref__c":"75875004"},{"URL__c":"https://www.omim.org/entry/131750","Source__c":"C0432322; MONDO:0007549; ORPHA:231568","Xref__c":"OMIM:131750"},{"URL__c":"https://www.orpha.net/en/disease/detail/231568","Source__c":"C0432322; MONDO:0007549","Xref__c":"ORPHA:231568"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432322","Source__c":"C0432322","Xref__c":"C0432322"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080224","Source__c":"MONDO:0007549","Xref__c":"DOID:0080224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1231284001","Source__c":"C0432322","Xref__c":"1231284001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007549","Source__c":"GARD:0002139","Xref__c":"MONDO:0007549"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C205633","Source__c":"C0432322","Xref__c":"C205633"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL7A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col7a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:231568","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":"ORPHA:231568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated loss, or shedding, of the nails of the fingers and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008390","HPO_Synonym__c":"Recurrent loss of toenails and fingernails; Recurrent shedding of toenails and fingernails","HPO_Name__c":"Recurrent loss of toenails and fingernails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001802","HPO_Synonym__c":"Absent toenail","HPO_Name__c":"Absent toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008391","HPO_Synonym__c":"Poor fingernail formation","HPO_Name__c":"Dystrophic fingernails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031446","HPO_Name__c":"Erosion of oral mucosa","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031045","HPO_Name__c":"Acral blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001817","HPO_Synonym__c":"Absent fingernail; Aplasia of the fingernail","HPO_Name__c":"Absent fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albopapuloid dystrophic epidermolysis bullosa of pasini"," autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types"," autosomal dominant generalized dystrophic epidermolysis bullosa"," ddeb"," ddeb (dominant dystrophic epidermolysis bullosa) intermediate"," ddeb-gen"," ddeb, generalised"," ddeb, generalized"," ddeb, pasini and cockayne-touraine types"," dominant dystrophic epidermolysis bullosa of pasini"," dominant dystrophic epidermolysis bullosa, albopapular type"," dystrophic epidermolysis bullosa, autosomal dominant"," epidermolysis bullosa dystrophica, ad"," epidermolysis bullosa dystrophica, autosomal dominant"," epidermolysis bullosa dystrophica, pasini type"," generalized ddeb"," generalized ddeb (generalized dystrophic epidermolysis bullosa)"]}