{"Name":"Epidermolysis bullosa simplex, Koebner type","DiseaseID__c":"GARD:0002147","id":2147,"encodedName":"epidermolysis-bullosa-simplex-koebner-type","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex, Koebner type","Xref_IDs__c":"90496008; C5561924; DOID:0080511; MEDGEN:1794134; MONDO:0007554; OMIM:131900; ORPHA:79399","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:0007554","Disease_Description__c":"Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.","GARD_Name__c":"Epidermolysis bullosa simplex, Koebner type","GARD_Synonym__c":"autosomal dominant generalized ebs, intermediate form; autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; ebs, generalised intermediate; ebs, generalized intermediate; epidermolysis bullosa simplex 1b, generalized intermediate; epidermolysis bullosa simplex, kobner type; epidermolysis bullosa simplex, köbner type; epidermolysis bullosa simplex, other generalized; generalised ebs, non-dowling-meara type; generalised epidermolysis bullosa simplex, non-dowling-meara type; generalized ebs, non-dowling-meara type; generalized epidermolysis bullosa simplex, non-dowling-meara type","Curated_Disease_Description_Source__c":"GARD:0002147","Curated_Disease_Description__c":"Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. The four most common types of epidermolysis bullosa simplex are EBS localized, EBS generalized intermediate, EBS with mottled pigmentation and EBS generalized severe. These four common types are caused by genetic changes in the EXPH5, KRT5, KRT14, and TGM5 genes. This condition is usually inherited in an autosomal dominant or autosomal recessive fashion.. These conditions are diagnosed based on the symptoms and by genetic testing.","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:79399","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007554","ORPHANET_ID__c":"ORPHA:79399","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple generalizada intermedia autosómica dominante","Spanish_Description_Source__c":"ORPHA:79399","Spanish_Description__c":"La epidermólisis ampollosa simple generalizada no-Dowling-Meara, conocida anteriormente como epidermólisis ampollosa simple tipo Kobner (EAS-K) es un subtipo basal generalizado de la epidermólisis ampollosa simple (EAS, consulte este término) caracterizado por ampollas no herpetiformes y erosiones que aparecen en las zonas de fricción.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple generalizada intermedia autosómica dominante","Spanish_GARD_Synonym__c":"ebs generalizada intermedia autosómica dominante; epidermólisis ampollosa simple tipo koebner; epidermólisis ampollosa simple tipo köbner; epidermólisis bullosa simple generalizada intermedia 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":"Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. The four most common types of epidermolysis bullosa simplex are EBS localized, EBS generalized intermediate, EBS with mottled pigmentation and EBS generalized severe. These four common types are caused by genetic changes in the EXPH5, KRT5, KRT14, and TGM5 genes. This condition is usually inherited in an autosomal dominant or autosomal recessive fashion.. These conditions are diagnosed based on the symptoms and by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0002147","GARD_Synonym__c":"autosomal dominant generalized ebs, intermediate form; autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; ebs, generalised intermediate; ebs, generalized intermediate; epidermolysis bullosa simplex 1b, generalized intermediate; epidermolysis bullosa simplex, kobner type; epidermolysis bullosa simplex, köbner type; epidermolysis bullosa simplex, other generalized; generalised ebs, non-dowling-meara type; generalised epidermolysis bullosa simplex, non-dowling-meara type; generalized ebs, non-dowling-meara type; generalized epidermolysis bullosa simplex, non-dowling-meara type","Name":"Epidermolysis bullosa simplex, Koebner type","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79399"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79399"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0079299"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002147","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1369","Source__c":"Gene Review","Xref__c":"NBK1369"},{"URL__c":"https://www.orpha.net/en/disease/detail/79399","Source__c":"C5561924; MONDO:0007554","Xref__c":"ORPHA:79399"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5561924","Source__c":"C5561924","Xref__c":"C5561924"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080511","Source__c":"MONDO:0007554","Xref__c":"DOID:0080511"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=90496008","Source__c":"MONDO:0007554","Xref__c":"90496008"},{"URL__c":"https://www.omim.org/entry/131900","Source__c":"C5561924; MONDO:0007554; ORPHA:79399","Xref__c":"OMIM:131900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1794134","Source__c":"C5561924","Xref__c":"MEDGEN:1794134"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007554","Source__c":"GARD:0002147","Xref__c":"MONDO:0007554"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","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:79399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010765","HPO_Name__c":"Palmar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypomelanotic macules (\\\"ash leaf spots\\\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009719","HPO_Synonym__c":"Hypomelanotic macules","HPO_Name__c":"Hypomelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005585","HPO_Synonym__c":"Patchy hyperpigmentation; Spotty increased pigmentation","HPO_Name__c":"Spotty hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","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:79399","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003341","HPO_Synonym__c":"Blistering with junctional split; Junctional split; Subepidermal blistering with cleavage in the lamina lucida","HPO_Name__c":"Lamina lucida cleavage","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009123","HPO_Name__c":"Mixed hypo- and hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Occasional (5-29%)","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:79399","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:79399","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007585","HPO_Name__c":"Skin fragility with non-scarring blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005590","HPO_Synonym__c":"Patchy depigmentation; Patchy hypopigmentation; Spotty decreased pigmentation","HPO_Name__c":"Spotty hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["autosomal dominant generalized ebs, intermediate form"," autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"," ebs, generalised intermediate"," ebs, generalized intermediate"," epidermolysis bullosa simplex 1b, generalized intermediate"," epidermolysis bullosa simplex, kobner type"," epidermolysis bullosa simplex, köbner type"," epidermolysis bullosa simplex, other generalized"," generalised ebs, non-dowling-meara type"," generalised epidermolysis bullosa simplex, non-dowling-meara type"," generalized ebs, non-dowling-meara type"," generalized epidermolysis bullosa simplex, non-dowling-meara type"]}