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MCID: LTN015
MIFTS: 16
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Late-Onset Junctional Epidermolysis Bullosa
Categories:
Rare diseases, Skin diseases, Fetal diseases, Oral diseases
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MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:
Name: Late-Onset Junctional Epidermolysis Bullosa
53
59
Characteristics:Orphanet epidemiological data:59
late-onset junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Classifications:
ICD10:
34
Orphanet: 59
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
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MalaCards based summary
:
Late-Onset Junctional Epidermolysis Bullosa, also known as eb progressive, is related to epidermolysis bullosa and junctional 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 related phenotypes are atrophic scars and palmoplantar hyperhidrosis
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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:59 32
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MalaCards organs/tissues related to Late-Onset Junctional Epidermolysis Bullosa:41
Skin
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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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