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 ⁵⁶ ²⁹ ⁶ ⁷¹

Scar18 ⁵⁶ ⁵⁸ ⁷³

Autosomal Recessive Congenital Cerebellar Ataxia Due to Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency ⁵⁸

Autosomal Recessive Congenital Cerebellar Ataxia Due to Grid2 Deficiency ⁵⁸

Ataxia, Spinocerebellar, Autosomal Recessive, Type 18 ³⁹

Spinocerebellar Ataxia, Autosomal Recessive, 18 ⁷³

Autosomal Recessive Spinocerebellar Ataxia 18 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0080042

OMIM ⁵⁶ 616204

OMIM Phenotypic Series ⁵⁶ PS213200

MeSH ⁴³ D002524 D013132

ICD10 via Orphanet ³³ G11.1

Orphanet ⁵⁸ ORPHA363432

MedGen ⁴¹ C4015505 CN225382

UMLS ⁷¹ C4015505

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 18

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia, autosomal recessive, 18: 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. 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 gait ataxia, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 18 is GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2). Affiliated tissues include eye, brain and cerebellum, and related phenotypes are limb ataxia and truncal ataxia

OMIM : ⁵⁶ 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 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

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 18

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 18:

⁵⁸ ³¹ (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	limb ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002070
2	truncal ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002078
3	brain atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012444
4	neurological speech impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002167
5	cognitive impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100543
6	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
7	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
8	horizontal nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000666
9	cerebellar vermis atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006855
10	gaze-evoked nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000640
11	hyperreflexia ³¹	occasional (7.5%)		HP:0001347
12	flexion contracture ³¹	occasional (7.5%)		HP:0001371
13	babinski sign ³¹	occasional (7.5%)		HP:0003487
14	optic disc pallor ³¹	occasional (7.5%)		HP:0000543
15	nystagmus ³¹			HP:0000639
16	dysarthria ³¹			HP:0001260
17	global developmental delay ³¹			HP:0001263
18	gait ataxia ³¹			HP:0002066
19	dysmetria ³¹			HP:0001310
20	poor speech ³¹			HP:0002465
21	dysdiadochokinesis ³¹			HP:0002075
22	cerebellar atrophy ³¹			HP:0001272
23	oculomotor apraxia ³¹			HP:0000657
24	incoordination ³¹			HP:0002311
25	functional motor deficit ⁵⁸		Frequent (79-30%)
26	esotropia ³¹			HP:0000565

Symptoms via clinical synopsis from OMIM:

⁵⁶

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
poor speech
dysdiadochokinesis
more

Skeletal:
joint contractures (in some patients)

Clinical features from OMIM:

616204

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 18:

gait ataxia, dysdiadochokinesis, cerebellar ataxia, ataxia, truncal

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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:

⁴⁰

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

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 18

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 18:

#	Title	Authors	PMID	Year
1	Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. ⁵⁶ ⁶	Hills LB...Mochida GH	24078737	2013
2	A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. ⁵⁶ ⁶	Utine GE...Alikasifoglu M	23611888	2013
3	Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher. ⁵⁶	Lalouette A...Vriz S	9628817	1998
4	Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice. ⁵⁶	Kashiwabuchi N...Kang Y	7736576	1995

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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	1668.31	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23611888 24078737

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 18

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GRID2	NC_000004.12:g.93013415_93157863del	deletion	Pathogenic	180131		4:94153589-94298037	4:93013415-93157863
2	GRID2	NM_001510.3(GRID2):c.530-12057_735+24661del36924	deletion	Pathogenic	180132		4:94019842-94056765	4:93098691-93135614
3	GRID2	NC_000004.12:g.92559959_92610106del	deletion	Pathogenic	180133		4:93481112-93531259	4:92559959-92610106
4	GRID2	NC_000004.12:g.92491792_92826931del	deletion	Pathogenic	180134		4:93412943-93748082	4:92491792-92826931
5	GRID2		deletion	Pathogenic	242880		4:93978239-94078203
6	GRID2	NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)	SNV	Pathogenic	427806	rs750331613	4:94436497-94436497	4:93515346-93515346
7	GRID2	NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)	SNV	Likely pathogenic	488523	rs368143665	4:94032040-94032040	4:93110889-93110889
8	GRID2	NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)	SNV	Likely pathogenic	800978		4:94138009-94138009	4:93216858-93216858

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

⁷³

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

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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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⁷¹ UMLS

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⁷⁴ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 18

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 18:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 18

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 18

Diseases in the Spinocerebellar Ataxia 6 family:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 18

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 18:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 18:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 18

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 18

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 18:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 18

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 18

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 18:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 18

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

Variations for Spinocerebellar Ataxia, Autosomal Recessive 18

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

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 18

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 18

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 18

Sources for Spinocerebellar Ataxia, Autosomal Recessive 18