ODCs

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Neurologic Waardenburg-Shah syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Isolated Klippel-Feil syndrome

SOX10	(UniProt - OMIM)	GDF3	(UniProt - OMIM)
		GDF6	(UniProt - OMIM)
		MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10	(0.63)	MEOX1

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Isolated Klippel-Feil syndrome
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence

	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

	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: 1-9 / 100 000 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	- Intellectual deficit / mental / psychomotor retardation / learning disability

Neurologic Waardenburg-Shah syndrome		Isolated Klippel-Feil 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 - 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 - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Autosomal recessive inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Low hair line (back) - Short neck - Vertebral segmentation anomaly / hemivertebrae - Webbed neck / pterygium colli Frequent - Anomalies of the ribs - Congenital torticolli - Hearing loss / hypoacusia / deafness - Narrow / sloping shoulders - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cranial nerve anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication