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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Congenital analbuminemia
Ichthyosis hystrix of Curth-Macklin

ALB KRT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Congenital analbuminemia
ALB
Ichthyosis hystrix of Curth-Macklin
KRT1



Congenital analbuminemia
Ichthyosis hystrix of Curth-Macklin

Synonym(s):
(no synonyms)

Synonym(s):
- Ichthyosis hystrix, Curth-Macklin type

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 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536088

Ichthyosis hystrix of Curth-Macklin

Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis

Frequent
- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional
- Gangrena / necrosis


Congenital analbuminemia

(no data available)