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1 OMIM reference -
1 associated gene
31 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 12
3 OMIM references -
3 associated genes
22 signs/symptoms
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome

SOX10 EDN3
EDNRB
SOX10


COMMON
GENES
SOX10



Citations in the biomedical literature:


Neurologic Waardenburg-Shah syndrome
SOX10
Waardenburg-Shah syndrome
EDN3 EDNRB



Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome

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

Synonym(s):
- Shah-Waardenburg syndrome
- WS4
- Waardenburg syndrome type 4
- Waardenburg-Hirschsprung 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 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: <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: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Acute abdominal pain / colic
- Anomalies of eyelids, eyelashes and lacrimal system
- Broad nose / nasal bridge
- Constipation
- Decreased hair pigmentation / hypopigmentation of hair
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Eyebrows anomalies
- High nasal bridge
- Intestinal obstruction / ileus
- Premature greying of hair
- Telecanthus / canthal dystopy
- Thin / hypoplastic ala nasi


Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome

Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Heterochromia / mixed colouring of iris
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Nystagmus
- Peripheral neuropathy
- Pyramidal syndrome
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss

Frequent
- Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon
- Late puberty / hypogonadism / hypogenitalism

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


Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intestinal / colonic anomaly
- Macular pigmentary anomaly / cherry-red spot
- White forelock / piebaldism

Frequent
- Anomalies of nose and olfaction
- Synophris / synophrys

Occasional
- Autosomal recessive inheritance
- Retinitis pigmentosa / retinal pigmentary changes