Epidermolysis Bullosa Simplex 1a, Generalized Severe (EBS1A)

Alias:

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

Epidermolysis Bullosa Simplex Dowling-Meara Type

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Ebs1a

Ebsdm

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis Dowling-Meara

Generalized Severe Epidermolysis Bullosa Simplex

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Gen Sev

Dm-Ebs

Ebs-Dm

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epidermolysis Bullosa Simplex 1a, Generalized Severe, also known as epidermolysis bullosa simplex, dowling-meara type, is related to epidermolysis bullosa simplex 5a, ogna type and epidermolysis bullosa simplex 2c, localized, and has symptoms including nail shedding An important gene associated with Epidermolysis Bullosa Simplex 1a, Generalized Severe is KRT14 (Keratin 14), and among its related pathways/superpathways are RAC1 GTPase cycle and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin and tongue, and related phenotypes are generalized abnormality of skin and palmoplantar keratoderma

Related ID：

MALACARDS：EPD094

OMIM：131760

MESH：D016110