MCID: SPN292
MIFTS: 27

Spinocerebellar Ataxia, Autosomal Recessive 18

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Fetal diseases, Liver diseases

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:



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)

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

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

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 18

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

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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 18

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

41
Brain, Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 18

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 SNP 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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 18

Search GEO for disease gene expression data 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

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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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