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2 OMIM references -
2 associated genes
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Isolated trigonocephaly
Hypercalcemic tumoral calcinosis

FGFR1 FGF23
FREM1 GALNT3
KL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR1
(0.63)
FGF23



Citations in the biomedical literature:


Isolated trigonocephaly
FGFR1 FREM1
Hypercalcemic tumoral calcinosis
FGF23 GALNT3 KL



Isolated trigonocephaly
Hypercalcemic tumoral calcinosis

Synonym(s):
- Non-syndromic metopic craniosynostosis

Synonym(s):
- GALNT3-CDG

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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

Isolated trigonocephaly

Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

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

Occasional
- Omphalocele / exomphalos


Hypercalcemic tumoral calcinosis

(no data available)