ODCs

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Waardenburg syndrome type 3

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Waardenburg-Shah syndrome

3 OMIM references -
3 associated genes
22 signs/symptoms

Waardenburg syndrome type 3

Waardenburg-Shah syndrome

PAX3	(UniProt - OMIM)	EDN3	(UniProt - OMIM)
		EDNRB	(UniProt - OMIM)
		SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.9)	SOX10

Citations in the biomedical literature:

Waardenburg syndrome type 3		Waardenburg-Shah syndrome
	Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies		Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung syndrome

	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin 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: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Telecanthus / canthal dystopy

Waardenburg syndrome type 3		Waardenburg-Shah syndrome
	Very frequent - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - 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 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		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Constipation - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - Intestinal obstruction / ileus - Intestinal / colonic anomaly - Macular pigmentary anomaly / cherry-red spot - Premature greying of hair - White forelock / piebaldism Frequent - Acute abdominal pain / colic - Anomalies of nose and olfaction - Broad nose / nasal bridge - High nasal bridge - Synophris / synophrys - Thin / hypoplastic ala nasi Occasional - Autosomal recessive inheritance - Retinitis pigmentosa / retinal pigmentary changes