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Spinocerebellar ataxia type 36

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial visceral myopathy

1 OMIM reference -
1 associated gene
26 signs/symptoms

Spinocerebellar ataxia type 36

Familial visceral myopathy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NOP56	(0.63)	ACTG2

Citations in the biomedical literature:

Spinocerebellar ataxia type 36		Familial visceral myopathy
	Synonym(s): - SCA36		Synonym(s): - Familial hollow visceral myopathy - Hereditary hollow visceral myopathy - Megaduodenum and/or megacystis

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the digestive system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: no data available Type of inheritance: autosomal dominant

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

Familial visceral myopathy
	Very frequent - Autosomal recessive inheritance - Bladder and ureter anomalies - Duodenal atresia / stenosis / megaduodenum - Megaureter / hydronephrosis / pyeloureteral junction syndrome Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Stillbirth / neonatal death Occasional - Absent / small fingernails / anonychia of hands - Anteverted nares / nostrils - Broad forehead - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrow rib cage / thorax - Restricted joint mobility / joint stiffness / ankylosis - Round face - Short bowel - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Umbilical hernia
Spinocerebellar ataxia type 36
(no data available)