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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
9 signs/symptoms
APC-related attenuated familial adenomatous polyposis
Autosomal recessive epidermolysis bullosa simplex

APC DST
KRT14


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
APC
(0.63)
(0.49)
KRT14
DST



Citations in the biomedical literature:


APC-related attenuated familial adenomatous polyposis
APC
Autosomal recessive epidermolysis bullosa simplex
DST KRT14



APC-related attenuated familial adenomatous polyposis
Autosomal recessive epidermolysis bullosa simplex

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

Synonym(s):
- EBS-AR

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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

Autosomal recessive epidermolysis bullosa simplex

Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal erosion / resorption of teeth / odontolysis
- Anaemia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Multiple caries
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Ichthyosis / ichthyosiform dermatitis


APC-related attenuated familial adenomatous polyposis

(no data available)