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Syndromic microphthalmia type 5

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

Syndromic microphthalmia type 5

Waardenburg syndrome type 2

OTX2	(UniProt - OMIM)		MITF	(UniProt - OMIM)
			SNAI2	(UniProt - OMIM)
			SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OTX2	(0.52)	MITF

Citations in the biomedical literature:

Syndromic microphthalmia type 5		Waardenburg syndrome type 2
	Synonym(s): - MCOPS5 - Syndromic microphthalmia/anophthalmia due to OTX2 mutation		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		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 (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown 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: 5 OMIM references - 1 MeSH reference: C536463

Waardenburg syndrome type 2
	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
Syndromic microphthalmia type 5
(no data available)