Spinocerebellar Ataxia, Autosomal Recessive 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCAR13 MCID: SPN258 MIFTS: 30	Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:

Name: Spinocerebellar Ataxia, Autosomal Recessive 13 ⁵⁸ ³⁰ ¹³ ⁶ ⁷⁴

Scar13 ⁵⁸ ⁶⁰ ⁷⁶

Autosomal Recessive Congenital Cerebellar Ataxia Due to Metabotropic Glutamate Receptor 1 Deficiency ⁶⁰

Autosomal Recessive Congenital Cerebellar Ataxia Due to Mglur1 Deficiency ⁶⁰

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13 ⁴¹

Autosomal Recessive Spinocerebellar Ataxia Type 13 ⁶⁰

Spinocerebellar Ataxia, Autosomal Recessive, 13 ⁷⁶

Autosomal Recessive Spinocerebellar Ataxia 13 ¹²

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0080062

OMIM ⁵⁸ 614831

MeSH ⁴⁵ D002524 D013132

ICD10 via Orphanet ³⁵ G11.1

Orphanet ⁶⁰ ORPHA324262

MedGen ⁴³ C3553816 CN143954

UMLS ⁷⁴ C3553816

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

UniProtKB/Swiss-Prot : ⁷⁶ 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, also known as scar13, is related to 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). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are intellectual disability and hyperreflexia

OMIM : ⁵⁸ 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)

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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 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	10.1

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

⁶⁰ ³³ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	hyperreflexia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001347
3	gait ataxia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002066
4	difficulty standing ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003698
5	ptosis ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0000508
6	dysdiadochokinesis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002075
7	esotropia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000565
8	hypometric saccades ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000571
9	limb dysmetria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002406
10	abnormality of ocular abduction ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011347
11	horizontal nystagmus ³³	frequent (33%)		HP:0000666
12	seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001250
13	absent speech ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001344
14	polyneuropathy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001271
15	gaze-evoked horizontal nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007979
16	dysmetria ⁶⁰ ³³		Frequent (79-30%)	HP:0001310
17	dysarthria ³³			HP:0001260
18	tremor ³³			HP:0001337
19	neurological speech impairment ⁶⁰		Frequent (79-30%)
20	abnormal pyramidal sign ³³			HP:0007256
21	global developmental delay ³³			HP:0001263
22	pes planus ³³			HP:0001763
23	short stature ³³			HP:0004322
24	ventriculomegaly ³³			HP:0002119
25	cerebellar atrophy ³³			HP:0001272
26	generalized hypotonia ³³			HP:0001290
27	functional motor deficit ⁶⁰		Frequent (79-30%)
28	retrocerebellar cyst ³³			HP:0006951
29	inferior vermis hypoplasia ³³			HP:0007068

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:

dysdiadochokinesis

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

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

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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 ³⁰	GRM1

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

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

⁴²

Eye, Brain, Spinal Cord, Cerebellum, Skin, Liver

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

#	Title	Authors	Year
1	Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia. ( 28982591 )	Bossi S...Puliti A	2018
2	Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. ( 22901947 )	Guergueltcheva V...Kalaydjieva L	2012

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 13

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1378.44	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	22901947

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

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

⁶ (show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GRM1	NM_001278064.1(GRM1): c.2652_2654delGAA (p.Asn885del)	deletion	no interpretation for the single variant	rs211694392	GRCh37	Chromosome 6, 146720827: 146720829
2	GRM1	NM_001278064.1(GRM1): c.2652_2654delGAA (p.Asn885del)	deletion	no interpretation for the single variant	rs211694392	GRCh38	Chromosome 6, 146399691: 146399693
3	GRM1	NM_001278064.1(GRM1): c.2793G> A (p.Lys931=)	single nucleotide variant	Benign/Likely benign	rs2942	GRCh37	Chromosome 6, 146755140: 146755140
4	GRM1	NM_001278064.1(GRM1): c.2793G> A (p.Lys931=)	single nucleotide variant	Benign/Likely benign	rs2942	GRCh38	Chromosome 6, 146434004: 146434004
5	GRM1	NM_001278064.1(GRM1): c.2977T> C (p.Ser993Pro)	single nucleotide variant	Benign/Likely benign	rs6923492	GRCh37	Chromosome 6, 146755324: 146755324
6	GRM1	NM_001278064.1(GRM1): c.2977T> C (p.Ser993Pro)	single nucleotide variant	Benign/Likely benign	rs6923492	GRCh38	Chromosome 6, 146434188: 146434188
7	GRM1	NM_001278064.1(GRM1): c.3168T> G (p.Gly1056=)	single nucleotide variant	Benign/Likely benign	rs6923864	GRCh37	Chromosome 6, 146755515: 146755515
8	GRM1	NM_001278064.1(GRM1): c.3168T> G (p.Gly1056=)	single nucleotide variant	Benign/Likely benign	rs6923864	GRCh38	Chromosome 6, 146434379: 146434379
9	GRM1	NM_001278064.1(GRM1): c.3213T> G (p.Pro1071=)	single nucleotide variant	Benign/Likely benign	rs1047006	GRCh37	Chromosome 6, 146755560: 146755560
10	GRM1	NM_001278064.1(GRM1): c.3213T> G (p.Pro1071=)	single nucleotide variant	Benign/Likely benign	rs1047006	GRCh38	Chromosome 6, 146434424: 146434424
11	GRM1	NM_001278064.1(GRM1): c.3495C> A (p.Pro1165=)	single nucleotide variant	Benign/Likely benign	rs9373491	GRCh37	Chromosome 6, 146755842: 146755842
12	GRM1	NM_001278064.1(GRM1): c.3495C> A (p.Pro1165=)	single nucleotide variant	Benign/Likely benign	rs9373491	GRCh38	Chromosome 6, 146434706: 146434706
13	GRM1	NM_001278064.1(GRM1): c.2660+2T> C	single nucleotide variant	no interpretation for the single variant	rs211694393	GRCh38	Chromosome 6, 146399701: 146399701
14	GRM1	NM_001278064.1(GRM1): c.2660+2T> C	single nucleotide variant	no interpretation for the single variant	rs211694393	GRCh37	Chromosome 6, 146720837: 146720837
15	GRM1	NM_001278064.1(GRM1): c.829C> A (p.Leu277Ile)	single nucleotide variant	Uncertain significance	rs1022097029	GRCh37	Chromosome 6, 146480612: 146480612
16	GRM1	NM_001278064.1(GRM1): c.829C> A (p.Leu277Ile)	single nucleotide variant	Uncertain significance	rs1022097029	GRCh38	Chromosome 6, 146159476: 146159476
17	GRM1	NM_001278064.2(GRM1): c.889C> T (p.Arg297Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 6, 146159536: 146159536
18	GRM1	NM_001278064.2(GRM1): c.889C> T (p.Arg297Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 6, 146480672: 146480672

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 13

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

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 13

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 13

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Sources for Spinocerebellar Ataxia, Autosomal Recessive 13

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 13

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 13

Diseases in the Spinocerebellar Ataxia 2 family:

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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 13

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 13

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 13

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 13 (1 elite genes):

Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

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

Expression 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