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Autosomal dominant keratitis

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

PROTEIN INTERACTIONS: 2

Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

Autosomal dominant keratitis

Waardenburg syndrome type 2

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


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

Citations in the biomedical literature:

Autosomal dominant keratitis		Waardenburg syndrome type 2
	Synonym(s): - Hereditary keratitis		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): - Diseases of the eye and adnexa -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal 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 - 1 MeSH reference: C537022		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
Autosomal dominant keratitis
(no data available)