Spinocerebellar ataxia 36

Preferred Label : Spinocerebellar ataxia 36;

Symbol : SCA36;

CISMeF acronym : SCA36;

Type : Phenotype, molecular basis known;

Description : SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al,. 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by hexanucleotide repeat expansion (GGCCTG)n in the homolog of the S. cerevisiae NOP56 gene (NOP56, 614154.0001);

Prefixed ID : #614153;

Details

Origin ID

614153;

UMLS CUI

C3472711;

Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 36 [NCIt concept]
- Spinocerebellar ataxia type 36 [ICD-11 More detail]
- Spinocerebellar ataxia type 36 [ORDO Disease]
- Spinocerebellar ataxia type 36 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 36 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 36 [DO Concept]
Genes related to phenotype
- Nop56 ribonuclear protein [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG: neuropathic changes [HPO term]
- Fasciculations [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Impaired smooth pursuit [HPO term]
- Incoordination [HPO term]
- Limb ataxia [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Ptosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slow saccadic eye movements [HPO term]
- Tongue atrophy [HPO term]
- Tongue fasciculations [HPO term]
- Truncal ataxia [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
Not associated HPO term(s)
- Impaired vibratory sensation [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 36 [ORDO Disease]
See also inter- (CISMeF)
- NOP56 ribonucleoprotein [ORDO Gene]
- NOP56 ribonucleoprotein [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 36 [NCIt concept]
- Spinocerebellar ataxia type 36 [ORDO Disease]
- Spinocerebellar ataxia type 36 [ICD-11 More detail]
- Spinocerebellar ataxia type 36 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 36 [DO Concept]

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