SCAR13
MCID: SPN258
MIFTS: 39

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 56 29 13 6 71
Scar13 56 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:

56
Inheritance:
autosomal recessive

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


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 aceruloplasminemia and ataxia and polyneuropathy, adult-onset, 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 FoxO signaling pathway. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are intellectual disability and hyperreflexia

OMIM : 56 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 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 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 aceruloplasminemia 29.2 KCNC3 HOMER3 GRM1 GRID2
2 ataxia and polyneuropathy, adult-onset 10.2
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.9 KCNC3 GRM1
4 episodic ataxia, type 6 9.8 KCNC3 GRID2
5 cerebral palsy, ataxic, autosomal recessive 9.8 KCNC3 AHCYL1
6 cerebellar disease 9.8 KCNC3 GRM1
7 hereditary ataxia 9.6 KCNC3 GRM1 GRID2
8 depression 9.6 GRM1 GRID2

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 29)
# 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 hypometric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000571
9 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
10 abnormality of ocular abduction 58 31 frequent (33%) Frequent (79-30%) HP:0011347
11 horizontal nystagmus 31 frequent (33%) HP:0000666
12 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
13 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
14 polyneuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001271
15 gaze-evoked horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0007979
16 dysmetria 58 31 Frequent (79-30%) HP:0001310
17 neurological speech impairment 58 Frequent (79-30%)
18 abnormal pyramidal sign 31 HP:0007256
19 dysarthria 31 HP:0001260
20 tremor 31 HP:0001337
21 global developmental delay 31 HP:0001263
22 pes planus 31 HP:0001763
23 short stature 31 HP:0004322
24 generalized hypotonia 31 HP:0001290
25 ventriculomegaly 31 HP:0002119
26 cerebellar atrophy 31 HP:0001272
27 functional motor deficit 58 Frequent (79-30%)
28 retrocerebellar cyst 31 HP:0006951
29 inferior vermis hypoplasia 31 HP:0007068

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
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

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:


dysdiadochokinesis

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ARHGAP26 GRID2 GRM1 KCNC3

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, Brain, Cerebellum, Spinal Cord, Liver, Skin

Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

# Title Authors PMID Year
1
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. 56 6
22901947 2012
2
The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. 56
17934773 2007
3
Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. 56
7969468 1994
4
Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. 56
7954803 1994
5
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia. 61
28982591 2018
6
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. 61
26308914 2015

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.889C>T (p.Arg297Ter)SNV Pathogenic 626248 rs774214806 6:146480672-146480672 6:146159536-146159536
2 GRM1 NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)SNV Uncertain significance 447469 rs1022097029 6:146480612-146480612 6:146159476-146159476
3 GRM1 NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)SNV Benign/Likely benign 129212 rs1047006 6:146755560-146755560 6:146434424-146434424
4 GRM1 NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)SNV Benign 129213 rs9373491 6:146755842-146755842 6:146434706-146434706
5 GRM1 NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)SNV Benign 129209 rs2942 6:146755140-146755140 6:146434004-146434004
6 GRM1 NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)SNV Benign 129210 rs6923492 6:146755324-146755324 6:146434188-146434188
7 GRM1 NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)SNV Benign 129211 rs6923864 6:146755515-146755515 6:146434379-146434379
8 GRM1 NM_001278064.2(GRM1):c.2660+2T>CSNV no interpretation for the single variant 478919 rs211694393 6:146720837-146720837 6:146399701-146399701
9 GRM1 NM_001278064.2(GRM1):c.2652_2654del (p.Asn885del)deletion no interpretation for the single variant 478918 rs211694392 6:146720827-146720829 6:146399691-146399693

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 KCNC3 HOMER3 GRM1
2
Show member pathways
11.29 HOMER3 GRM1
3
Show member pathways
11.07 HOMER3 GRM1
4 10.4 GRM1 GRID2

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 synapse GO:0045202 9.43 KCNC3 HOMER3 GRID2
2 dendrite GO:0030425 9.33 KCNC3 HOMER3 GRM1
3 cell junction GO:0030054 9.26 KCNC3 HOMER3 GRID2 ARHGAP26
4 postsynaptic density membrane GO:0098839 8.62 GRM1 GRID2

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 glutamate receptor activity GO:0008066 8.62 GRM1 GRID2

Sources for Spinocerebellar Ataxia, Autosomal Recessive 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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32 ICD10
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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