{"Name":"Epidermolysis bullosa simplex with migratory circinate erythema","DiseaseID__c":"GARD:0016990","id":16990,"encodedName":"epidermolysis-bullosa-simplex-with-migratory-circinate-erythema","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex with migratory circinate erythema","Xref_IDs__c":"716700003; C1836284; C563730; MEDGEN:324475; MONDO:0012258; OMIM:609352; ORPHA:158681","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012258","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.","GARD_Name__c":"Epidermolysis bullosa simplex with migratory circinate erythema","GARD_Synonym__c":"ebs with circinate migratory erythema; ebs-migr; epidermolysis bullosa simplex 2e, with migratory circinate erythema; epidermolysis bullosa simplex with circinate migratory erythema","Curated_Disease_Description_Source__c":"MONDO:0012258","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.","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:158681","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012258","ORPHANET_ID__c":"ORPHA:158681","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple con eritema migratorio circinado","Spanish_Description_Source__c":"ORPHA:158681","Spanish_Description__c":"Es una epidermólisis ampollosa simple poco frecuente y hereditaria caracterizada por zonas de eritema en banda con múltiples vesículas y pequeñas ampollas en el borde de avance del eritema. Las lesiones se producen en las extremidades y el tronco y curan con una pigmentación marrón pero sin cicatrización. La afectación extracutánea está ausente. La enfermedad suele presentarse al nacimiento.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple con eritema migratorio circinado","Spanish_GARD_Synonym__c":"ebs con eritema migratorio circinado; epidermólisis bullosa simple con eritema migratorio circinado","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 simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.","Curated_Disease_Description_Source__c":"MONDO:0012258","GARD_Synonym__c":"ebs with circinate migratory erythema; ebs-migr; epidermolysis bullosa simplex 2e, with migratory circinate erythema; epidermolysis bullosa simplex with circinate migratory erythema","Name":"Epidermolysis bullosa simplex with migratory circinate erythema","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:158681"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:158681"}],"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.omim.org/entry/609352","Source__c":"C1836284; MONDO:0012258; ORPHA:158681","Xref__c":"OMIM:609352"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836284","Source__c":"C1836284","Xref__c":"C1836284"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563730","Source__c":"MONDO:0012258","Xref__c":"C563730"},{"URL__c":"https://www.orpha.net/en/disease/detail/158681","Source__c":"C1836284; MONDO:0012258; ORPHA:158681","Xref__c":"ORPHA:158681"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324475","Source__c":"C1836284","Xref__c":"MEDGEN:324475"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716700003","Source__c":"C1836284; MONDO:0012258","Xref__c":"716700003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012258","Source__c":"GARD:0016990","Xref__c":"MONDO:0012258"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007513","HPO_Synonym__c":"Fair skin; Pale pigmentation","HPO_Name__c":"Generalized hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Excluded (0%)","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:158681","HPO_Frequency__c":"Excluded (0%)","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:158681","HPO_Frequency__c":"Frequent (30-79%)","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:158681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031180","HPO_Synonym__c":"Erythema chronicum migrans","HPO_Name__c":"Erythema migrans","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Frequent (30-79%)","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:158681","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","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:158681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Frequent (30-79%)","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:158681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects the skin of the tibial region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012221","HPO_Synonym__c":"Pretibial epidermolysis bullosa","HPO_Name__c":"Pretibial blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","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:158681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007599","HPO_Name__c":"Generalized reticulate brown pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158681","HPO_Frequency__c":"Frequent (30-79%)","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:158681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation 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":["ebs with circinate migratory erythema"," ebs-migr"," epidermolysis bullosa simplex 2e, with migratory circinate erythema"," epidermolysis bullosa simplex with circinate migratory erythema"]}