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1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Neurologic Waardenburg-Shah syndrome
Sporadic secreting paraganglioma

SOX10 EPAS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOX10
(0.63)
EPAS1



Citations in the biomedical literature:


Neurologic Waardenburg-Shah syndrome
SOX10
Sporadic secreting paraganglioma
EPAS1



Neurologic Waardenburg-Shah syndrome
Sporadic secreting paraganglioma

Synonym(s):
- PCWH
- Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease
- WS4 plus

Synonym(s):
(no synonyms)

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 endocrine disease
- Rare oncologic 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: unknown
Average age onset: -
Average age of death: -
Type of inheritance: sporadic

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

Neurologic Waardenburg-Shah syndrome

Very frequent
- Acute abdominal pain / colic
- Ataxia / incoordination / trouble of the equilibrium
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Heterochromia / mixed colouring of iris
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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


Sporadic secreting paraganglioma

(no data available)