Epidermolytic Hyperkeratosis 1 (EHK1)

Alias:
Bullous Congenital Ichthyosiform Erythroderma
Superficial Epidermolytic Ichthyosis
Bullous Ichthyosiform Erythroderma
Ichthyosis Bullosa of Siemens
Bullous Erythroderma Ichthyosiformis Congenita of Brocq
Epidermolytic Hyperkeratosis
Bcie
Bie
Sei
Epidermolytic Hyperkeratosis Late-Onset
Epidermolytic Ichthyosis
Bullous Type Ichthyosis
Ehk1
Ehk
Ei
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolytic Hyperkeratosis 1, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis bullosa of siemens and ichthyosis, congenital, autosomal recessive 4a, and has symptoms including scaly skin An important gene associated with Epidermolytic Hyperkeratosis 1 is KRT1 (Keratin 1), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin and small intestine, and related phenotypes are ichthyosis and palmoplantar keratoderma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
26
124
42

Medical Symptom

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Gene & Mutation

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References Literature

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