SCAR13
MCID: SPN258
MIFTS: 38

Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin 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 71
Scar13 57 58 73
Autosomal Recessive Spinocerebellar Ataxia 13 12 15
Autosomal Recessive Congenital Cerebellar Ataxia Due to Metabotropic Glutamate Receptor 1 Deficiency 58
Autosomal Recessive Congenital Cerebellar Ataxia Due to Mglur1 Deficiency 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 13 39
Autosomal Recessive Spinocerebellar Ataxia Type 13 58
Spinocerebellar Ataxia, Autosomal Recessive, 13 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive
many patients of bulgarian roma bowlmaker ethnicity


HPO:

31
spinocerebellar ataxia, autosomal recessive 13:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia, autosomal recessive, 13: A form of spinocerebellar ataxia, 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, also known as scar13, is related to ataxia and polyneuropathy, adult-onset and cerebellar ataxia type 41, and has symptoms including dysdiadochokinesis An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 13 is GRM1 (Glutamate Metabotropic Receptor 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has material basis in homozygous mutation in the GRM1 gene on chromosome 6q24.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development 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 (Guergueltcheva et al., 2012). (614831) (Updated 05-Mar-2021)

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 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 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.0
2 cerebellar ataxia type 41 9.9 KCNC3 GRM1
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.9 KCNC3 GRM1
4 cerebral palsy, ataxic, autosomal recessive 9.9 KCNC3 AHCYL1
5 cerebellar disease 9.8 KCNC3 GRM1
6 hereditary ataxia 9.7 KCNC3 GRM1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 13

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
4 difficulty standing 58 31 hallmark (90%) Very frequent (99-80%) HP:0003698
5 ptosis 58 31 frequent (33%) Occasional (29-5%) HP:0000508
6 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
7 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
8 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
9 hypometric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000571
10 abnormality of ocular abduction 58 31 frequent (33%) Frequent (79-30%) HP:0011347
11 horizontal nystagmus 31 frequent (33%) HP:0000666
12 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
13 polyneuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001271
14 gaze-evoked horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0007979
15 seizure 31 occasional (7.5%) HP:0001250
16 dysmetria 58 31 Frequent (79-30%) HP:0001310
17 seizures 58 Occasional (29-5%)
18 neurological speech impairment 58 Frequent (79-30%)
19 abnormal pyramidal sign 31 HP:0007256
20 dysarthria 31 HP:0001260
21 tremor 31 HP:0001337
22 global developmental delay 31 HP:0001263
23 pes planus 31 HP:0001763
24 short stature 31 HP:0004322
25 ventriculomegaly 31 HP:0002119
26 cerebellar atrophy 31 HP:0001272
27 generalized hypotonia 31 HP:0001290
28 functional motor deficit 58 Frequent (79-30%)
29 retrocerebellar cyst 31 HP:0006951
30 inferior vermis hypoplasia 31 HP:0007068

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dysdiadochokinesis
cerebellar atrophy
more
Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (adults)

Skeletal Feet:
pes planus

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in 1 family)

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)

Clinical features from OMIM®:

614831 (Updated 05-Mar-2021)

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:

40
Eye, Cerebellum, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

# Title Authors PMID Year
1
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. 61 6 57
26308914 2015
2
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. 57 6
31319223 2019
3
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. 6 57
22901947 2012
4
The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. 57
17934773 2007
5
Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. 57
7969468 1994
6
Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. 57
7954803 1994
7
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia. 61
28982591 2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRM1 NM_001278064.2(GRM1):c.2652_2654del (p.Asn885del) Deletion Pathogenic 453266 rs211694392 6:146720827-146720829 6:146399691-146399693
2 GRM1 NM_001278064.2(GRM1):c.26dup (p.Ala11fs) Duplication Pathogenic 818224 rs758809498 6:146350671-146350672 6:146029535-146029536
3 GRM1 NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe) SNV Pathogenic 984959 6:146673559-146673559 6:146352423-146352423
4 GRM1 NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter) SNV Pathogenic 626248 rs774214806 6:146480672-146480672 6:146159536-146159536
5 GRM1 NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) SNV Uncertain significance 447469 rs1022097029 6:146480612-146480612 6:146159476-146159476
6 GRM1 NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) SNV Benign 129212 rs1047006 6:146755560-146755560 6:146434424-146434424
7 GRM1 NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) SNV Benign 129209 rs2942 6:146755140-146755140 6:146434004-146434004
8 GRM1 NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) SNV Benign 129210 rs6923492 6:146755324-146755324 6:146434188-146434188
9 GRM1 NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) SNV Benign 129213 rs9373491 6:146755842-146755842 6:146434706-146434706
10 GRM1 NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) SNV Benign 129211 rs6923864 6:146755515-146755515 6:146434379-146434379

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:

73
# Symbol AA change Variation ID SNP ID
1 GRM1 p.Leu454Phe VAR_081782

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

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.8 KCNC3 HOMER3 GRM1

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled glutamate receptor signaling pathway GO:0007216 8.62 HOMER3 GRM1

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 HOMER3 GRM1 CDR2L AHCYL1

Sources for Spinocerebellar Ataxia, Autosomal Recessive 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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