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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Familial adenomatous polyposis due to 5q22.2 microdeletion
Naegeli-Franceschetti-Jadassohn syndrome

APC KRT14


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial adenomatous polyposis due to 5q22.2 microdeletion
APC
Naegeli-Franceschetti-Jadassohn syndrome
KRT14



Familial adenomatous polyposis due to 5q22.2 microdeletion
Naegeli-Franceschetti-Jadassohn syndrome

Synonym(s):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2

Synonym(s):
- NFJ syndrome
- Naegeli syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

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

Naegeli-Franceschetti-Jadassohn syndrome

Very frequent
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Irregular / in bands / reticular skin hyperpigmentation
- Palmoplantar hyperkeratosis / keratoderma



Familial adenomatous polyposis due to 5q22.2 microdeletion

(no data available)