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Waardenburg-Shah syndrome

3 OMIM references -
3 associated genes
22 signs/symptoms

PROTEIN INTERACTIONS: 1

Acute myeloid leukemia with CEBPA somatic mutations

1 associated gene
No signs/symptoms info

Waardenburg-Shah syndrome

Acute myeloid leukemia with CEBPA somatic mutations

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10	(0.52)	CEBPA

Citations in the biomedical literature:

Waardenburg-Shah syndrome		Acute myeloid leukemia with CEBPA somatic mutations
	Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung syndrome		Synonym(s): - AML with CEBPA somatic mutations

	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 (Orphanet): - Rare genetic disease - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Waardenburg-Shah syndrome
	Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Autosomal dominant inheritance - Constipation - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - 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 - Telecanthus / canthal dystopy
Acute myeloid leukemia with CEBPA somatic mutations
(no data available)