ODCs

Cytoscape Web

Click node...

Waardenburg syndrome type 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1

X-linked dystonia-parkinsonism

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

Waardenburg syndrome type 1

X-linked dystonia-parkinsonism

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.68)	TAF1

Citations in the biomedical literature:

Waardenburg syndrome type 1		X-linked dystonia-parkinsonism
	Synonym(s): (no synonyms)		Synonym(s): - DYT3 - Lubag - Lubag syndrome - XDP

	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 genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 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: adulthood Average age of death: adult Type of inheritance: x-linked recessive

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

Waardenburg syndrome type 1
	Very frequent - Albinism (hair) - Anomalies of ear and hearing - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Defect / anomaly of lacrimal system - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Short / small nose - Telecanthus / canthal dystopy - White forelock / piebaldism Frequent - Broad nasal root - Hair and scalp anomalies - Premature greying of hair - Synophris / synophrys - Tented upper lip - Thin / hypoplastic ala nasi Occasional - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Meningocele - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida - Strabismus / squint
X-linked dystonia-parkinsonism
(no data available)