{"Name":"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive","DiseaseID__c":"GARD:0017691","id":17691,"encodedName":"epidermolysis-bullosa-simplex-4-localized-or-generalized-intermediate-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive","Xref_IDs__c":"C3554367; MEDGEN:767281; MONDO:0014014; OMIM:615028; ORPHA:412189","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:412189","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.","GARD_Name__c":"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive","GARD_Synonym__c":"ebs due to exophilin 5 deficiency; ebs-ar exophilin 5; epidermolysis bullosa simplex due to exophilin 5 deficiency; epidermolysis bullosa, nonspecific, autosomal recessive","Curated_Disease_Description_Source__c":"ORPHA:412189","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:412189","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014014","ORPHANET_ID__c":"ORPHA:412189","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple por deficiencia de exofilina 5","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epidermólisis ampollosa simple por deficiencia de exofilina 5","Spanish_GARD_Synonym__c":"ebs por deficiencia de exofilina 5; epidermólisis bullosa simple por deficiencia de exofilina 5","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 mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.","Curated_Disease_Description_Source__c":"ORPHA:412189","GARD_Synonym__c":"ebs due to exophilin 5 deficiency; ebs-ar exophilin 5; epidermolysis bullosa simplex due to exophilin 5 deficiency; epidermolysis bullosa, nonspecific, autosomal recessive","Name":"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosoma","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":"Childhood","Provided_By__c":"ORPHA:412189"}],"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/615028","Source__c":"C3554367; MONDO:0014014; ORPHA:412189","Xref__c":"OMIM:615028"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554367","Source__c":"C3554367","Xref__c":"C3554367"},{"URL__c":"https://www.orpha.net/en/disease/detail/412189","Source__c":"C3554367; MONDO:0014014","Xref__c":"ORPHA:412189"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767281","Source__c":"C3554367","Xref__c":"MEDGEN:767281"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014014","Source__c":"GARD:0017691","Xref__c":"MONDO:0014014"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EXPH5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615028","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615028","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":"OMIM:615028","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:615028","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ebs due to exophilin 5 deficiency"," ebs-ar exophilin 5"," epidermolysis bullosa simplex due to exophilin 5 deficiency"," epidermolysis bullosa, nonspecific, autosomal recessive"]}