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MCID: LTN015
MIFTS: 20
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Late-Onset Junctional Epidermolysis Bullosa
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:
Name: Late-Onset Junctional Epidermolysis Bullosa
58
Characteristics:Inheritance:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Skin diseases Oral diseases Eye diseases
ICD10:
32
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases |
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Orphanet: 58 A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. MalaCards based summary: Late-Onset Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa progressiva, is related to epidermolysis bullosa dystrophica neurotrophica and epidermolysis bullosa. An important gene associated with Late-Onset Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain). Affiliated tissues include skin and eye, and related phenotypes are nail dystrophy and anonychia |
Diseases in the Junctional Epidermolysis Bullosa family:Diseases related to Late-Onset Junctional Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:58 30 (show all 28)
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Organs/tissues related to Late-Onset Junctional Epidermolysis Bullosa:
MalaCards :
Skin,
Eye
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Articles related to Late-Onset Junctional Epidermolysis Bullosa:
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Search
GEO
for disease gene expression data for Late-Onset Junctional Epidermolysis Bullosa.
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