Cytoscape Web
Click node...


Epidermolytic ichthyosis
2 OMIM references -
2 associated genes
67 connected diseases
10 signs/symptoms
Disease Type of connection
Annular epidermolytic ichthyosis
Keratosis palmoplantaris striata
Epidermolytic palmoplantar keratoderma
Congenital reticular ichthyosiform erythroderma
Ichthyosis hystrix of Curth-Macklin
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Congenital analbuminemia
Fibronectin glomerulopathy
Spinocerebellar ataxia type 12
Richieri Costa-Pereira syndrome
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Estrogen resistance syndrome
Fanconi anemia
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Pseudohypoaldosteronism type 2E
Senior-Loken syndrome
Superficial epidermolytic ichthyosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Cowden syndrome
Proteus syndrome
Familial gastric cancer
Gastric linitis plastica
Congenital high-molecular-weight kininogen deficiency
Exfoliative ichthyosis
Keratoderma hereditarium mutilans with ichthyosis
Progressive symmetric erythrokeratodermia
APC-related attenuated familial adenomatous polyposis
Apolipoprotein A-I deficiency
Common variable immunodeficiency
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial renal amyloidosis due to Apolipoprotein AI variant
Gardner syndrome
Primary systemic amyloidosis
Turcot syndrome with polyposis
Autosomal agammaglobulinemia
Congenital bilateral absence of vas deferens
Cystic fibrosis
Giant cell glioblastoma
Gliosarcoma
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Lethal arthrogryposis - anterior horn cell disease
Lethal congenital contracture syndrome type 1
Male infertility with normal virilization due to meiosis defect
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Congenital factor XII deficiency
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hereditary angioedema type 3
Localized epidermolysis bullosa simplex
Synonym(s):
- BCIE
- Bullous congenital ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma of Brock
- Bullous ichthyosis
- EHK
- EI
- Epidermolytic hyperkeratosis

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
KRT1 P04264139350
KRT10 P13645148080
Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Pigmented naevi / naevus pigmentosus / lentigo

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / conjunctival hamartomas
- Palmoplantar hyperkeratosis / keratoderma