ODCs

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Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 2

Agnathia - holoprosencephaly - situs inversus

1 OMIM reference -
2 associated genes
20 signs/symptoms

Waardenburg syndrome type 2

Agnathia - holoprosencephaly - situs inversus

MITF	(UniProt - OMIM)	OTX2	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)	PRRX1	(UniProt - OMIM)
SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10 MITF	(0.63) (0.52)	PRRX1 OTX2

Citations in the biomedical literature:

Waardenburg syndrome type 2		Agnathia - holoprosencephaly - situs inversus

	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 genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Waardenburg syndrome type 2		Agnathia - holoprosencephaly - situs inversus
	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 - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cranial nerve anomalies - Cyclopia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic mandibula / partial absence of the mandibula - Low set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Polyhydramnios - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Synotia