SCAR18
MCID: SPN292
MIFTS: 29

Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18)

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

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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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)

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

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

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:

40
Eye, Brain, Cerebellum, Spinal Cord, Liver, Skin

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
24078737 2013
2
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. 56 6
23611888 2013
3
Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher. 56
9628817 1998
4
Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice. 56
7736576 1995

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_93157863deldeletion Pathogenic 180131 4:94153589-94298037 4:93013415-93157863
2 GRID2 NM_001510.3(GRID2):c.530-12057_735+24661del36924deletion Pathogenic 180132 4:94019842-94056765 4:93098691-93135614
3 GRID2 NC_000004.12:g.92559959_92610106deldeletion Pathogenic 180133 4:93481112-93531259 4:92559959-92610106
4 GRID2 NC_000004.12:g.92491792_92826931deldeletion 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 SNP ID
1 GRID2 p.Ala654Asp VAR_074166
2 GRID2 p.Ala654Thr VAR_074167
3 GRID2 p.Leu656Val VAR_074168

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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