Epidermolytic Hyperkeratosis (EI)

Alias:
Bullous Congenital Ichthyosiform Erythroderma
Hyperkeratosis, Epidermolytic
Bcie
Ehk
Bullous Congenital Ichthyosiform Erythroderma of Brock
Autosomal Dominant Epidermolytic Ichthyosis
Bullous Ichthyosiform Erythroderma
Ichthyosis Hystrix Brocq Type
Epidermolytic Ichthyosis
Bullous Ichthyosis
Ei
Bullous Erythroderma Ichthyosiformis Congenita of Brocq
Epidermolytic Palmoplantar Hyperkeratosis
Bullous Erythroderma Ichthyosiforme
Bie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis, annular epidermolytic, 1 and ichthyosis bullosa of siemens, and has symptoms including scaly skin An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), 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 hyperkeratosis
Related ID:
MESH:D017488

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
30
162
11

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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