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Congenital analbuminemia
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Epidermolytic ichthyosis
2 OMIM references -
2 associated genes
10 signs/symptoms
Congenital analbuminemia
Epidermolytic ichthyosis

ALB
(UniProt - OMIM)
 KRT1
(UniProt - OMIM)
KRT10
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ALB
ALB
(0.72)
(0.72)
KRT1
KRT10


Citations in the biomedical literature:


Congenital analbuminemia
ALB
Epidermolytic ichthyosis
KRT1 KRT10



Congenital analbuminemia
Epidermolytic ichthyosis

Synonym(s):
(no synonyms)

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 hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
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:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
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


Congenital analbuminemia

(no data available)