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Waardenburg-Shah syndrome
3 OMIM references -
3 associated genes
45 connected diseases
22 signs/symptoms
Disease Type of connection
Hirschsprung disease
Ondine syndrome
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg syndrome type 2
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Auriculocondylar syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Autosomal dominant hypocalcemia
Familial hypocalciuric hypercalcemia type 2
Autosomal recessive primary microcephaly
Split hand - split foot - deafness
Agnathia - holoprosencephaly - situs inversus
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Autosomal dominant secondary polycythemia
Foveal hypoplasia - presenile cataract
Frontonasal dysplasia with alopecia and genital anomaly
Isolated Klippel-Feil syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Isolated scaphocephaly
Morning glory syndrome
Multiple paragangliomas associated with polycythemia
Parietal foramina
Peters anomaly
Potocki-Shaffer syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
WAGR syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Dejerine-Sottas syndrome
Extraskeletal myxoid chondrosarcoma
Inherited acute myeloid leukemia
Isolated brachycephaly
Isolated plagiocephaly
- 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 otorhinolaryngologic disease
- Rare skin disease

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: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
EDN3 P14138131242
EDNRB P24530131244
SOX10 P56693602229
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

- Acute abdominal pain / colic
- Anomalies of nose and olfaction
- Broad nose / nasal bridge
- High nasal bridge
- Synophris / synophrys
- Thin / hypoplastic ala nasi

- Autosomal recessive inheritance
- Retinitis pigmentosa / retinal pigmentary changes
- Telecanthus / canthal dystopy