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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Ocular albinism with congenital sensorineural deafness
Morning glory syndrome

MITF PAX6
TYR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MITF
(0.92)
PAX6



Citations in the biomedical literature:


Ocular albinism with congenital sensorineural deafness
MITF TYR
Morning glory syndrome
PAX6



Ocular albinism with congenital sensorineural deafness
Morning glory syndrome

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism

Synonym(s):
- Ectasic coloboma
- Volubilis syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Morning glory syndrome

Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Strabismus / squint
- Visual loss / blindness / amblyopia

Occasional
- Cataract / lens opacification
- Coloboma of the optic nerve
- Nystagmus
- Retinal detachment


Ocular albinism with congenital sensorineural deafness

(no data available)