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Epidermolytic ichthyosis
2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Hereditary angioedema type 3
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolytic ichthyosis
Hereditary angioedema type 3

KRT1
(UniProt - OMIM)
 F12
(UniProt - OMIM)
KRT10
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT1
(0.52)
F12


Citations in the biomedical literature:


Epidermolytic ichthyosis
KRT1 KRT10
Hereditary angioedema type 3
F12



Epidermolytic ichthyosis
Hereditary angioedema type 3

Synonym(s):
- BCIE
- Bullous congenital ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma of Brock
- Bullous ichthyosis
- EHK
- EI
- Epidermolytic hyperkeratosis
Synonym(s):
- HAE 3
- HAE-III
- Hereditary angioneurotic edema type 3
- Inherited estrogen-associated angioedema
- Inherited estrogen-associated angioneurotic edema
- Inherited estrogen-dependent angioedema
- Inherited estrogen-dependent angioneurotic edema
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare allergic disease
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056828
Epidermolytic ichthyosis

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


Hereditary angioedema type 3

(no data available)