Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
No signs/symptoms info
Goldmann-Favre syndrome
Pure hair and nail ectodermal dysplasia

NR2E3 HOXC13
KRT85


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR2E3
(0.63)
HOXC13



Citations in the biomedical literature:


Goldmann-Favre syndrome
NR2E3
Pure hair and nail ectodermal dysplasia
HOXC13 KRT85



Goldmann-Favre syndrome
Pure hair and nail ectodermal dysplasia

Synonym(s):
- Enhanced S-cone syndrome
- Retinoschisis with early nyctalopia

Synonym(s):
- HNED
- Hair-nail ectodermal dysplasia
- PHNED

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.