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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
4 signs/symptoms
Congenital factor XII deficiency
Keratosis palmoplantaris striata

F12 DSG1
DSP
KRT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
F12
(0.52)
KRT1



Citations in the biomedical literature:


Congenital factor XII deficiency
F12
Keratosis palmoplantaris striata
DSG1 DSP KRT1



Congenital factor XII deficiency
Keratosis palmoplantaris striata

Synonym(s):
- Congenital Hageman factor deficiency

Synonym(s):
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris varians of Wachters
- Striate palmoplantar keratoderma

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Keratosis palmoplantaris striata

Very frequent
- Autosomal dominant inheritance
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Hair and scalp anomalies
- Nails anomalies



Congenital factor XII deficiency

(no data available)