{"Name":"Junctional epidermolysis bullosa","DiseaseID__c":"GARD:0002152","id":2152,"encodedName":"junctional-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Junctional epidermolysis bullosa","Xref_IDs__c":"399971009; 79855003; C0079301; C90598; D016109; DOID:3209; MEDGEN:86898; MONDO:0017612; NBK1125; OMIMPS:226650; ORPHA:305","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0017612","Disease_Description__c":"A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.","GARD_Name__c":"Junctional epidermolysis bullosa","GARD_Synonym__c":"congenital junctional epidermolysis bullosa; ebj; epidermolysis bullosa atrophicans; jeb","Curated_Disease_Description_Source__c":"GARD:0002152","Curated_Disease_Description__c":"Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing. Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life. The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:305","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017612","ORPHANET_ID__c":"ORPHA:305","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa juntural","Spanish_Description_Source__c":"ORPHA:305","Spanish_Description__c":"Es un grupo de epidermólisis ampollosa hereditaria caracterizado por la afectación de la piel y las mucosas, y se define por la formación de lesiones ampollosas entre la epidermis y la dermis a nivel de la lámina lúcida de la zona de la membrana basal cutánea y por la cicatrización de lesiones con atrofia y/o formación de tejido de granulación exuberante.","Spanish_Disease_Name__c":"epidermólisis ampollosa juntural","Spanish_GARD_Synonym__c":"epidermólisis ampollosa atrófica; epidermólisis bullosa juntural","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":"Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing. Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life. The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.","Curated_Disease_Description_Source__c":"GARD:0002152","GARD_Synonym__c":"congenital junctional epidermolysis bullosa; ebj; epidermolysis bullosa atrophicans; jeb","Name":"Junctional epidermolysis bullosa","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/"},{"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/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.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":"Antenatal","Provided_By__c":"ORPHA:305"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:305"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:305"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:305"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0079301"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS226650","Source__c":"MONDO:0017612","Xref__c":"OMIMPS:226650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79855003","Source__c":"C0079301; MONDO:0017612","Xref__c":"79855003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016109","Source__c":"C0079301; MONDO:0017612","Xref__c":"D016109"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0079301","Source__c":"C0079301","Xref__c":"C0079301"},{"URL__c":"https://www.orpha.net/en/disease/detail/305","Source__c":"C0079301; MONDO:0017612; ORPHA:305","Xref__c":"ORPHA:305"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3209","Source__c":"MONDO:0017612","Xref__c":"DOID:3209"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C90598","Source__c":"C0079301; MONDO:0017612","Xref__c":"C90598"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=86898","Source__c":"C0079301","Xref__c":"MEDGEN:86898"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017612","Source__c":"GARD:0002152","Xref__c":"MONDO:0017612"},{"URL__c":"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa","Source__c":"GARD:0002152","Xref__c":"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399971009","Source__c":"C0079301","Xref__c":"399971009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1125","Source__c":"Gene Review","Xref__c":"NBK1125"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital junctional epidermolysis bullosa"," ebj"," epidermolysis bullosa atrophicans"," jeb"]}