Spinocerebellar ataxia, autosomal recessive 13

Preferred Label : Spinocerebellar ataxia, autosomal recessive 13;

Symbol : SCAR13;

CISMeF acronym : SCAR13;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive spinocerebellar ataxia-13 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (summary by Guergueltcheva et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the metabotropic glutamate receptor 1 gene (GRM1, 604473.0001);

Prefixed ID : #614831;

Details

Origin ID

614831;

UMLS CUI

C3553816;

Automatic exact mappings (from CISMeF team)
- GRM1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 13 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 13 [DO Concept]
Genes related to phenotype
- Glutamate receptor, metabotropic, 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Dilated fourth ventricle [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Esotropia [HPO term]
- Fatigue [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypometric saccades [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Polyneuropathy [HPO term]
- Ptosis [HPO term]
- Retrocerebellar cyst [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome [ORDO Disease]
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive spinocerebellar ataxia 13 [DO Concept]

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