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1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
10 signs/symptoms
Neurologic Waardenburg-Shah syndrome
Aniridia - cerebellar ataxia - intellectual deficit

SOX10 PAX6


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Neurologic Waardenburg-Shah syndrome
SOX10
Aniridia - cerebellar ataxia - intellectual deficit
PAX6



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