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 ⁵⁷ ²⁹ ¹³ ⁶ ⁷²

Scar13 ⁵⁷ ⁵⁹ ⁷⁴

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 ⁷⁴

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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0080062

OMIM ⁵⁷ 614831 PS213200

MeSH ⁴⁴ D002524 D013132

ICD10 via Orphanet ³⁴ G11.1

Orphanet ⁵⁹ ORPHA324262

MedGen ⁴² C3553816 CN143954

UMLS ⁷² C3553816

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 13

UniProtKB/Swiss-Prot : ⁷⁴ 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 aceruloplasminemia, 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 : 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)

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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	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	10.2
2	aceruloplasminemia	10.2

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 13

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

⁵⁹ ³² (show all 29)

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

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

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 ²⁹	GRM1

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

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

⁴¹

Eye, Brain, Spinal Cord, Cerebellum

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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. ⁸ ⁷¹	Guergueltcheva V...Kalaydjieva L	22901947	2012
2	The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. ⁸	Sachs AJ...Nystuen AM	17934773	2007
3	Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. ⁸	Conquet F...Conde F	7969468	1994
4	Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. ⁸	Aiba A...Tonegawa S	7954803	1994
5	Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia. ³⁸	Bossi S...Puliti A	28982591	2018
6	The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. ³⁸	Davarniya B...Najmabadi H	26308914	2015

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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	1678.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ 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

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	GRM1	NM_001278064.2(GRM1): c.889C> T (p.Arg297Ter)	single nucleotide variant	Pathogenic		6:146480672-146480672	6:146159536-146159536
2	GRM1	NM_001278064.2(GRM1): c.829C> A (p.Leu277Ile)	single nucleotide variant	Uncertain significance	rs1022097029	6:146480612-146480612	6:146159476-146159476
3	GRM1	NM_001278064.2(GRM1): c.2793G> A (p.Lys931=)	single nucleotide variant	Benign/Likely benign	rs2942	6:146755140-146755140	6:146434004-146434004
4	GRM1	NM_001278064.2(GRM1): c.2977T> C (p.Ser993Pro)	single nucleotide variant	Benign/Likely benign	rs6923492	6:146755324-146755324	6:146434188-146434188
5	GRM1	NM_001278064.2(GRM1): c.3168T> G (p.Gly1056=)	single nucleotide variant	Benign/Likely benign	rs6923864	6:146755515-146755515	6:146434379-146434379
6	GRM1	NM_001278064.2(GRM1): c.3213T> G (p.Pro1071=)	single nucleotide variant	Benign/Likely benign	rs1047006	6:146755560-146755560	6:146434424-146434424
7	GRM1	NM_001278064.2(GRM1): c.3495C> A (p.Pro1165=)	single nucleotide variant	Benign/Likely benign	rs9373491	6:146755842-146755842	6:146434706-146434706
8	GRM1	NM_001278064.2(GRM1): c.2652_2654del (p.Asn885del)	deletion	no interpretation for the single variant	rs211694392	6:146720827-146720829	6:146399691-146399693
9	GRM1	NM_001278064.2(GRM1): c.2660+2T> C	single nucleotide variant	no interpretation for the single variant	rs211694393	6:146720837-146720837	6:146399701-146399701

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

⁷⁴

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

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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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²³ GeneHancer via GeneCards

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

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⁴¹ MalaCards

⁴² MedGen

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

UniProtKB/Swiss-Prot 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