ODCs

Cytoscape Web

Click node...

Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Waardenburg syndrome type 2

Isolated aniridia

MITF	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)
SOX10	(UniProt - OMIM)


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		Isolated aniridia

	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 developmental defect during embryogenesis - 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: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Waardenburg syndrome type 2		Isolated aniridia
	Very frequent - 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 - Aniridia / iris hypoplasia - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma