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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
7 signs/symptoms
Pilomatrixoma
Isolated trigonocephaly

CTNNB1 FGFR1
FREM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
FGFR1



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Isolated trigonocephaly
FGFR1 FREM1



Pilomatrixoma
Isolated trigonocephaly

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Synonym(s):
- Non-syndromic metopic craniosynostosis

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018296
External references:
2 OMIM references -
No MeSH references

Isolated trigonocephaly

Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

Frequent
- Broad nasal root
- Hypotelorism
- Prominent supraorbital ridge
- Synophris / synophrys

Occasional
- Omphalocele / exomphalos


Pilomatrixoma

(no data available)