{"Name":"Epidermolysis bullosa simplex 1C, localized","DiseaseID__c":"GARD:0002146","id":2146,"encodedName":"epidermolysis-bullosa-simplex-1c-localized","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 1C, localized","Xref_IDs__c":"294705005; C0080333; DOID:0080510; MEDGEN:87016; MONDO:0007551; OMIM:131800; ORPHA:79400","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":1,"Description_Source__c":"MONDO:0007551","Disease_Description__c":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.","GARD_Name__c":"Epidermolysis bullosa simplex 1C, localized","GARD_Synonym__c":"debs-wc; dominant epidermolysis bullosa simplex, weber-cockayne type; ebs-loc; ebs, acral form; epidermolysis bullosa of hands and feet; epidermolysis bullosa simplex of palms and soles; epidermolysis bullosa simplex of the hands and/or feet; epidermolysis bullosa simplex, weber-cockayne type; localised epidermolysis bullosa simplex; localized ebs; localized epidermolysis bullosa simplex; weber-cockayne syndrome","Curated_Disease_Description_Source__c":"MONDO:0007551","Curated_Disease_Description__c":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007551","ORPHANET_ID__c":"ORPHA:79400","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple localizada","Spanish_Description_Source__c":"ORPHA:79400","Spanish_Description__c":"La epidermólisis ampollosa simple localizada, previamente conocida como EBS, de Weber-Cockayne, es un subtipo basal de epidermólisis ampollosa simple (EBS, consulte este término). La enfermedad se caracteriza por la formación de ampollas preferentemente en las palmas de las manos y plantas de los pies, que suelen empeorar con climas cálidos.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple localizada","Spanish_GARD_Synonym__c":"ebs localizada; epidermólisis ampollosa simple palmar y plantar; epidermólisis ampollosa simple tipo weber-cockayne; epidermólisis bullosa simple localizada","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":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.","Curated_Disease_Description_Source__c":"MONDO:0007551","GARD_Synonym__c":"debs-wc; dominant epidermolysis bullosa simplex, weber-cockayne type; ebs-loc; ebs, acral form; epidermolysis bullosa of hands and feet; epidermolysis bullosa simplex of palms and soles; epidermolysis bullosa simplex of the hands and/or feet; epidermolysis bullosa simplex, weber-cockayne type; localised epidermolysis bullosa simplex; localized ebs; localized epidermolysis bullosa simplex; weber-cockayne syndrome","Name":"Epidermolysis bullosa simplex 1C, localized","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Childhood","Provided_By__c":"ORPHA:79400"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002146","Source__c":"RareSource"},{"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=87016","Source__c":"C0080333","Xref__c":"MEDGEN:87016"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080510","Source__c":"MONDO:0007551","Xref__c":"DOID:0080510"},{"URL__c":"https://www.orpha.net/en/disease/detail/79400","Source__c":"C0080333; MONDO:0007551; ORPHA:79400","Xref__c":"ORPHA:79400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0080333","Source__c":"C0080333","Xref__c":"C0080333"},{"URL__c":"https://www.omim.org/entry/131800","Source__c":"C0080333; MONDO:0007551; ORPHA:79400","Xref__c":"OMIM:131800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=294705005","Source__c":"C0080333; MONDO:0007551","Xref__c":"294705005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007551","Source__c":"GARD:0002146","Xref__c":"MONDO:0007551"}],"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:79400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025238","HPO_Synonym__c":"Foot pain","HPO_Name__c":"Foot pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","HPO_Frequency__c":"Uncommon (<1-4%)","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:79400","HPO_Frequency__c":"Uncommon (<1-4%)","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:79400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","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:79400","HPO_Frequency__c":"Uncommon (<1-4%)","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:79400","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:79400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012513","HPO_Synonym__c":"Upper limb pain","HPO_Name__c":"Upper limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","HPO_Frequency__c":"Uncommon (<1-4%)","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:79400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003489","HPO_Name__c":"Acute episodes of neuropathic symptoms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","HPO_Frequency__c":"Excluded (0%)","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:79400","HPO_Frequency__c":"Occasional (5-29%)","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:79400","HPO_Frequency__c":"Very frequent (80-99%)","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:79400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007497","HPO_Synonym__c":"Hyperkeratosis, palmoplantar, focal friction-related","HPO_Name__c":"Focal friction-related palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","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:79400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","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:79400","HPO_Frequency__c":"Occasional (5-29%)","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:79400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","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:79400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007446","HPO_Name__c":"Palmoplantar blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["debs-wc"," dominant epidermolysis bullosa simplex, weber-cockayne type"," ebs-loc"," ebs, acral form"," epidermolysis bullosa of hands and feet"," epidermolysis bullosa simplex of palms and soles"," epidermolysis bullosa simplex of the hands and/or feet"," epidermolysis bullosa simplex, weber-cockayne type"," localised epidermolysis bullosa simplex"," localized ebs"," localized epidermolysis bullosa simplex"," weber-cockayne syndrome"]}