ODCs

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Neurologic Waardenburg-Shah syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Frontonasal dysplasia with alopecia and genital anomaly

1 OMIM reference -
1 associated gene
29 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Frontonasal dysplasia with alopecia and genital anomaly

SOX10

(UniProt - OMIM)

ALX4

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10	(0.63)	ALX4

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Frontonasal dysplasia with alopecia and genital anomaly
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality

	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Nystagmus - Telecanthus / canthal dystopy

Neurologic Waardenburg-Shah syndrome		Frontonasal dysplasia with alopecia and genital anomaly
	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 - Intestinal obstruction / ileus - Irregular / patchy skin hypopigmentation - 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 - 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		Very frequent - Alopecia - Anteverted nares / nostrils - Autosomal recessive inheritance - Bifid skull - Bifid tip / cleft nose / supernumerary nose - Blepharophimosis / short palpebral fissures - Brachycephaly / flat occiput - Depressed nasal bridge - Hypertelorism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Philtrum flat / large / featureless / absent cupidon bows - Scalp / skull defect - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Fine hair - Frontal bossing / prominent forehead - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly