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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
APC-related attenuated familial adenomatous polyposis
Ichthyosis hystrix of Curth-Macklin

APC KRT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


APC-related attenuated familial adenomatous polyposis
APC
Ichthyosis hystrix of Curth-Macklin
KRT1



APC-related attenuated familial adenomatous polyposis
Ichthyosis hystrix of Curth-Macklin

Synonym(s):
- APC-related AFAP
- APC-related attenuated FAP
- APC-related attenuated familial polyposis coli

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

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
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


APC-related attenuated familial adenomatous polyposis

(no data available)