EBSB2
MCID: EPD068
MIFTS: 26
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Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (EBSB2)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:
Characteristics:Orphanet epidemiological data:58
epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood two unrelated families have been reported (last curated september 2013) blistering may worsen during the summer HPO:31Classifications:
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Epidermolysis bullosa simplex, autosomal recessive 2: A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.
MalaCards based summary : Epidermolysis Bullosa Simplex, Autosomal Recessive 2, is also known as ebsb2. An important gene associated with Epidermolysis Bullosa Simplex, Autosomal Recessive 2 is DST (Dystonin). Related phenotypes are nail dystrophy and atrophic scars OMIM® : 57 EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). (615425) (Updated 05-Mar-2021) |
Diseases in the Epidermolysis Bullosa Simplex family:
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Human phenotypes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615425 (Updated 05-Mar-2021) |
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Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:
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ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:6 (show top 50) (show all 886)
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