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

SCAR13 MCID: SPN258 MIFTS: 31	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

Sources

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:

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: 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:

OMIM ⁵⁷ 614831

Disease Ontology ¹² DOID:0080062

Orphanet ⁵⁹ ORPHA324262

ICD10 via Orphanet ³⁴ G11.1

MedGen ⁴² C3553816 CN143954

MeSH ⁴⁴ D002524 D013132

UMLS ⁷³ C3553816

Sources

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, 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 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)

Sources

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 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

Sources

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	global developmental delay ³²			HP:0001263
20	pes planus ³²			HP:0001763
21	short stature ³²			HP:0004322
22	ventriculomegaly ³²			HP:0002119
23	horizontal nystagmus ³²	frequent (33%)		HP:0000666
24	cerebellar atrophy ³²			HP:0001272
25	generalized hypotonia ³²			HP:0001290
26	functional motor problems ⁵⁹		Frequent (79-30%)
27	retrocerebellar cyst ³²			HP:0006951
28	inferior vermis hypoplasia ³²			HP:0007068
29	abnormal pyramidal sign ³²			HP:0007256

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:

dysdiadochokinesis

Sources

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 13

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

Sources

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

Sources

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 13

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

⁴¹

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

Sources

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

Sources

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	978.46	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

Sources

Variations for Spinocerebellar Ataxia, Autosomal Recessive 13

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

⁶ (show all 14)

#	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

Sources

Expression for Spinocerebellar Ataxia, Autosomal Recessive 13

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

Sources

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 13

Sources

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 13

Sources

Sources for Spinocerebellar Ataxia, Autosomal Recessive 13

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:

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