Cytoscape Web
Click node...

Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
COMMON GENES: 1
Dyschromatosis universalis
3 OMIM references -
1 associated gene
9 signs/symptoms
Colobomatous microphthalmia
Dyschromatosis universalis

ABCB6
(UniProt - OMIM)
 ABCB6
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

COMMON
GENES 		ABCB6


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Dyschromatosis universalis



Colobomatous microphthalmia
Dyschromatosis universalis

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
9 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references
Dyschromatosis universalis

Very frequent
- Excessive freckling
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

Frequent
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hearing loss / hypoacusia / deafness
- Skin photosensitivity

Occasional
- Short stature / dwarfism / nanism


Colobomatous microphthalmia

(no data available)