Cytoscape Web
Click node...


5 OMIM references -
3 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
8 signs/symptoms
Waardenburg syndrome type 2
Morning glory syndrome

MITF PAX6
SNAI2
SOX10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MITF
SOX10
(0.92)
(0.63)
PAX6
PAX6



Citations in the biomedical literature:


Waardenburg syndrome type 2
MITF SNAI2 SOX10
Morning glory syndrome
PAX6



Waardenburg syndrome type 2
Morning glory syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Ectasic coloboma
- Volubilis syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

External references:
5 OMIM references -
1 MeSH reference: C536463
External references:
1 OMIM reference -
No MeSH references

Waardenburg syndrome type 2
Morning glory syndrome

Very frequent
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Premature greying of hair
- Sensorineural deafness / hearing loss

Frequent
- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Renal / kidney anomalies
- Telecanthus / canthal dystopy


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