MCID: SPN258
MIFTS: 28

Spinocerebellar Ataxia, Autosomal Recessive 13

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:

Name: Spinocerebellar Ataxia, Autosomal Recessive 13 57 29 13 6 73
Scar13 57 59 75
Autosomal Recessive Congenital Cerebellar Ataxia Due to Metabotropic Glutamate Receptor 1 Deficiency 59
Autosomal Recessive Congenital Cerebellar Ataxia Due to Mglur1 Deficiency 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 13 40
Autosomal Recessive Spinocerebellar Ataxia Type 13 59
Spinocerebellar Ataxia, Autosomal Recessive, 13 75
Autosomal Recessive Spinocerebellar Ataxia 13 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive
observed in individuals of bulgarian roma bowlmaker ethnic group


HPO:

32
spinocerebellar ataxia, autosomal recessive 13:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 13: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is 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.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 13, is also known as scar13, and has symptoms including dysdiadochokinesis An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 13 is GRM1 (Glutamate Metabotropic Receptor 1). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are ptosis and intellectual disability

OMIM : 57 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). (614831)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 13

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
dysdiadochokinesis
cerebellar atrophy
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
horizontal nystagmus (about half of patients)
hypometric saccades (about half of patients)
abduction deficits (about half of patients)
esotropia (about half of patients)
ptosis (about half of patients)

Skeletal Feet:
pes planus

Growth Height:
short stature (adults)


Clinical features from OMIM:

614831

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Occasional (29-5%) HP:0000508
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 absent speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001344
6 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
7 dysmetria 59 32 Frequent (79-30%) HP:0001310
8 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
9 polyneuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001271
10 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
11 gaze-evoked horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0007979
12 hypometric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000571
13 difficulty standing 59 32 hallmark (90%) Very frequent (99-80%) HP:0003698
14 limb dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0002406
15 abnormality of ocular abduction 59 32 frequent (33%) Frequent (79-30%) HP:0011347
16 dysarthria 32 HP:0001260
17 tremor 32 HP:0001337
18 neurological speech impairment 59 Frequent (79-30%)
19 abnormal pyramidal signs 32 HP:0007256
20 global developmental delay 32 HP:0001263
21 pes planus 32 HP:0001763
22 short stature 32 HP:0004322
23 ventriculomegaly 32 HP:0002119
24 horizontal nystagmus 32 frequent (33%) HP:0000666
25 cerebellar atrophy 32 HP:0001272
26 generalized hypotonia 32 HP:0001290
27 functional motor problems 59 Frequent (79-30%)
28 retrocerebellar cyst 32 HP:0006951
29 inferior vermis hypoplasia 32 HP:0007068

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:


dysdiadochokinesis

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 13:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 13 29 GRM1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 13:

41
Eye, Brain, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRM1 NM_001278064.1(GRM1): c.2660+2T> C single nucleotide variant no interpretation for the single variant rs211694393 GRCh38 Chromosome 6, 146399701: 146399701
2 GRM1 NM_001278064.1(GRM1): c.2660+2T> C single nucleotide variant no interpretation for the single variant rs211694393 GRCh37 Chromosome 6, 146720837: 146720837

Expression for Spinocerebellar Ataxia, Autosomal Recessive 13

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 13.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 13

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 13

Sources for Spinocerebellar Ataxia, Autosomal Recessive 13

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17 ExPASy
19 FMA
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31 HMDB
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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