|
MCID: LTN015
MIFTS: 16
|
Late-Onset Junctional Epidermolysis Bullosa
Categories:
Fetal diseases, Oral diseases, Rare diseases, Skin diseases
|
|
|
|
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
|
|
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 nail dystrophy and abnormal blistering of the skin
|
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:
|
Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:59 32
|
|
|
MalaCards organs/tissues related to Late-Onset Junctional Epidermolysis Bullosa:41
Skin
|
Articles related to Late-Onset Junctional Epidermolysis Bullosa:
|
|
|
|
Search
GEO
for disease gene expression data for Late-Onset Junctional Epidermolysis Bullosa.
|
|
|
|