Spinocerebellar Ataxia, Autosomal Recessive 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 18

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 18:

Name: Spinocerebellar Ataxia, Autosomal Recessive 18 ⁵⁷ ²⁹ ⁶ ⁷³

Scar18 ⁵⁷ ⁵⁹ ⁷⁵

Autosomal Recessive Congenital Cerebellar Ataxia Due to Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency ⁵⁹

Autosomal Recessive Congenital Cerebellar Ataxia Due to Grid2 Deficiency ⁵⁹

Ataxia, Spinocerebellar, Autosomal Recessive, Type 18 ⁴⁰

Spinocerebellar Ataxia, Autosomal Recessive, 18 ⁷⁵

Autosomal Recessive Spinocerebellar Ataxia 18 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal recessive congenital cerebellar ataxia due to grid2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
patients need support with walking or are wheelchair-bound
two consanguineous turkish families have been reported (last curated january 2015)

HPO:

³²

spinocerebellar ataxia, autosomal recessive 18:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver 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 616204

Disease Ontology ¹² DOID:0080042

Orphanet ⁵⁹ ORPHA363432

ICD10 via Orphanet ³⁴ G11.1

MedGen ⁴² C4015505 CN225382

MeSH ⁴⁴ D002524 D013132

UMLS ⁷³ C4015505

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 18

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia, autosomal recessive, 18: Spinocerebellar ataxia defines 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. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 18, is also known as scar18, and has symptoms including cerebellar ataxia, dysdiadochokinesis and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 18 is GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2). Affiliated tissues include brain, eye and spinal cord, and related phenotypes are brain atrophy and neurological speech impairment

OMIM : ⁵⁷ Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by Hills et al., 2013). (616204)

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 18

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 16
Spinocerebellar Ataxia Type 19/22	Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 18

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
oculomotor apraxia
esotropia
pale optic discs (in some patients)
tonic upgaze

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth (in some patients)

Neurologic Central Nervous System:
dysarthria
gait ataxia
dysmetria
dysdiadochokinesis
truncal ataxia
more

Skeletal:
joint contractures (in some patients)

Clinical features from OMIM:

616204

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 18:

⁵⁹ ³² (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	brain atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012444
2	neurological speech impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002167
3	cognitive impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100543
4	limb ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002070
5	difficulty walking ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002355
6	truncal ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002078
7	horizontal nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000666
8	cerebellar vermis atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006855
9	generalized hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001290
10	gaze-evoked nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000640
11	nystagmus ³²			HP:0000639
12	dysarthria ³²			HP:0001260
13	hyperreflexia ³²	occasional (7.5%)		HP:0001347
14	global developmental delay ³²			HP:0001263
15	flexion contracture ³²	occasional (7.5%)		HP:0001371
16	gait ataxia ³²			HP:0002066
17	babinski sign ³²	occasional (7.5%)		HP:0003487
18	dysmetria ³²			HP:0001310
19	dysdiadochokinesis ³²			HP:0002075
20	cerebellar atrophy ³²			HP:0001272
21	oculomotor apraxia ³²			HP:0000657
22	optic disc pallor ³²	occasional (7.5%)		HP:0000543
23	incoordination ³²			HP:0002311
24	functional motor problems ⁵⁹		Frequent (79-30%)
25	esotropia ³²			HP:0000565
26	poor speech ³²			HP:0002465

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 18:

cerebellar ataxia, dysdiadochokinesis, ataxia, truncal, gait ataxia

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 18

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 18

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Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 18

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 18:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia, Autosomal Recessive 18 ²⁹	GRID2

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 18

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 18:

⁴¹

Brain, Eye, Spinal Cord, Cerebellum

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 18

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 18

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GRID2	Glutamate Ionotropic Receptor Delta Type Subunit 2	Protein Coding	1678.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24078737 23611888

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 18

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 18:

⁷⁵

#	Symbol	AA change	Variation ID
1	GRID2	p.Ala654Asp	VAR_074166
2	GRID2	p.Ala654Thr	VAR_074167
3	GRID2	p.Leu656Val	VAR_074168

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 18:

⁶

(show all 11)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GRID2	NC_000004.12: g.93013415_93157863del144449	deletion	Pathogenic		GRCh38	Chromosome 4, 93013415: 93157863
2	GRID2	NC_000004.12: g.93013415_93157863del144449	deletion	Pathogenic		GRCh37	Chromosome 4, 94153589: 94298037
3	GRID2	NM_001510.3(GRID2): c.530-12057_735+24661del36924	deletion	Pathogenic		GRCh38	Chromosome 4, 93098691: 93135614
4	GRID2	NM_001510.3(GRID2): c.530-12057_735+24661del36924	deletion	Pathogenic		GRCh37	Chromosome 4, 94019842: 94056765
5	GRID2	NC_000004.12: g.92559959_92610106del50148	deletion	Pathogenic		GRCh38	Chromosome 4, 92559959: 92610106
6	GRID2	NC_000004.12: g.92491792_92826931del335140	deletion	Pathogenic		GRCh38	Chromosome 4, 92491792: 92826931
7	GRID2	NC_000004.11: g.(?_93978239)_(94078203_?)del	deletion	Pathogenic		GRCh37	Chromosome 4, 93978239: 94078203
8	GRID2	NM_001510.3(GRID2): c.2128C> T (p.Arg710Trp)	single nucleotide variant	Pathogenic	rs750331613	GRCh38	Chromosome 4, 93515346: 93515346
9	GRID2	NM_001510.3(GRID2): c.2128C> T (p.Arg710Trp)	single nucleotide variant	Pathogenic	rs750331613	GRCh37	Chromosome 4, 94436497: 94436497
10	GRID2	NM_001510.3(GRID2): c.671G> A (p.Arg224Gln)	single nucleotide variant	Likely pathogenic	rs368143665	GRCh37	Chromosome 4, 94032040: 94032040
11	GRID2	NM_001510.3(GRID2): c.671G> A (p.Arg224Gln)	single nucleotide variant	Likely pathogenic	rs368143665	GRCh38	Chromosome 4, 93110889: 93110889

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 18

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 18.

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 18

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 18

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Sources for Spinocerebellar Ataxia, Autosomal Recessive 18

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