ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Waardenburg syndrome type 3

Ocular albinism with congenital sensorineural deafness

PAX3	(UniProt - OMIM)		MITF	(UniProt - OMIM)
			TYR	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.52)	MITF

Citations in the biomedical literature:

Waardenburg syndrome type 3		Ocular albinism with congenital sensorineural deafness
	Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies		Synonym(s): - Waardenburg syndrome type 2 with ocular albinism

	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): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Waardenburg syndrome type 3
	Very frequent - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Hearing loss / hypoacusia / deafness - Irregular length / shape of fingers - Microcephaly - Narrow nasal root - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm - Tented upper lip - Thick / bushy eyebrows - Upper limb segmental anomalies Frequent - Albinism (hair) - Atelectasia / pulmonary collapse - Telecanthus / canthal dystopy Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Atrial septal defect / interauricular communication - Camptodactyly of some fingers - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Tracheomalacia / tracheobronchomalacia
Ocular albinism with congenital sensorineural deafness
(no data available)