ODCs

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Neurologic Waardenburg-Shah syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Aniridia - cerebellar ataxia - intellectual deficit

1 OMIM reference -
1 associated gene
10 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Aniridia - cerebellar ataxia - intellectual deficit

SOX10

(UniProt - OMIM)

PAX6

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10	(0.63)	PAX6

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): - Gillespie syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

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

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

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


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability

Neurologic Waardenburg-Shah syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	Very frequent - Acute abdominal pain / colic - Constipation - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Heterochromia / mixed colouring of iris - Hypertonia / spasticity / rigidity / stiffness - Intestinal obstruction / ileus - Irregular / patchy skin hypopigmentation - Nystagmus - Peripheral neuropathy - Pyramidal syndrome - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Broad nose / nasal bridge - Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon - Decreased hair pigmentation / hypopigmentation of hair - Eyebrows anomalies - High nasal bridge - Late puberty / hypogonadism / hypogenitalism - Premature greying of hair - Thin / hypoplastic ala nasi Occasional - Arthrogryposis - Cardiac rhythm disorder / arrhythmia - Hepatomegaly / liver enlargement (excluding storage disease) - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Salivary gland neoplasm / tumor / carcinoma / cancer - Splenomegaly - Telecanthus / canthal dystopy		Very frequent - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Expressionless face / amimia Frequent - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches