SCAR12
MCID: SPN264
MIFTS: 33

Spinocerebellar Ataxia, Autosomal Recessive 12 (SCAR12)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 12

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 12:

Name: Spinocerebellar Ataxia, Autosomal Recessive 12 57 29 13 6 72
Scar12 57 59 74
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Wwox Deficiency 59
Spinocerebellar Ataxia with Mental Retardation and Epilepsy 57
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12 40
Autosomal Recessive Spinocerebellar Ataxia Type 12 59
Spinocerebellar Ataxia, Autosomal Recessive, 12 74
Autosomal Recessive Spinocerebellar Ataxia 12 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures between 9 and 12 months of age
two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)


HPO:

32
spinocerebellar ataxia, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080060
ICD10 via Orphanet 34 G11.1
Orphanet 59 ORPHA284282
MedGen 42 C3280452
UMLS 72 C3280452

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 74 Spinocerebellar ataxia, autosomal recessive, 12: 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. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with mental retardation. Some patients may also show spasticity.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 12, also known as scar12, is related to epileptic encephalopathy, early infantile, 1, and has symptoms including seizures, gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 12 is WWOX (WW Domain Containing Oxidoreductase). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria

OMIM : 57 Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. Some patients may also show spasticity (summary by Mallaret et al., 2014). (614322)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 12

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 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 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 9.2 WWOX MAF

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 12

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 12:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
4 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
5 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
6 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
7 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
8 urinary bladder sphincter dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002839
9 spasticity 32 occasional (7.5%) HP:0001257
10 optic atrophy 32 occasional (7.5%) HP:0000648
11 growth delay 32 occasional (7.5%) HP:0001510
12 babinski sign 32 occasional (7.5%) HP:0003487
13 retinal degeneration 32 occasional (7.5%) HP:0000546
14 intellectual disability 32 HP:0001249
15 seizures 32 HP:0001250
16 global developmental delay 32 HP:0001263
17 microcephaly 32 HP:0000252
18 cerebellar atrophy 32 HP:0001272
19 gaze-evoked nystagmus 32 HP:0000640

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysarthria
gait ataxia
limb ataxia
cerebellar ataxia
more
Head And Neck Eyes:
gaze-evoked nystagmus

Neurologic Peripheral Nervous System:
hyporeflexia

Clinical features from OMIM:

614322

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 12:


seizures, gait ataxia, cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 12

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 12

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 12 29 WWOX

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 12

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 12:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 12

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 12:

# Title Authors PMID Year
1
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 8 71
24369382 2014
2
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. 8 71
17470496 2007
3
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus. 38
30290271 2019
4
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation. 38
30094525 2018
5
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. 38
25716914 2015

Variations for Spinocerebellar Ataxia, Autosomal Recessive 12

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 12:

6 (show top 50) (show all 191)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WWOX NC_000016.9: g.(?_78466365)_(78466669_?)del deletion Pathogenic 16:78466365-78466669 16:78432468-78432772
2 WWOX NM_016373.4(WWOX): c.1114G> C (p.Gly372Arg) single nucleotide variant Pathogenic rs587777127 16:79245562-79245562 16:79211665-79211665
3 WWOX NM_016373.4(WWOX): c.139C> A (p.Pro47Thr) single nucleotide variant Pathogenic rs587777128 16:78142351-78142351 16:78108454-78108454
4 WWOX NM_016373.4(WWOX): c.160C> T (p.Arg54Ter) single nucleotide variant Pathogenic rs587777248 16:78142372-78142372 16:78108475-78108475
5 WWOX NM_016373.4(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 16:78458940-78458940 16:78425043-78425043
6 WWOX NM_016373.4(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 16:78458951-78458951 16:78425054-78425054
7 WWOX NC_000016.9: g.(?_79245485)_(79245713_?)del deletion Pathogenic 16:79245485-79245713 16:79211588-79211816
8 WWOX NC_000016.9: g.(?_78198060)_(78198206_?)del deletion Pathogenic 16:78198060-78198206 16:78164163-78164309
9 WWOX NC_000016.9: g.(?_78420737)_(78420865_?)del deletion Pathogenic 16:78420737-78420865 16:78386840-78386968
10 WWOX duplication Pathogenic
11 WWOX NM_016373.4(WWOX): c.583G> T (p.Glu195Ter) single nucleotide variant Pathogenic/Likely pathogenic 16:78420823-78420823 16:78386926-78386926
12 WWOX NM_016373.4(WWOX): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201008667 16:78143716-78143716 16:78109819-78109819
13 WWOX NM_016373.4(WWOX): c.409+1G> C single nucleotide variant Likely pathogenic rs1060502727 16:78149052-78149052 16:78115155-78115155
14 WWOX NM_016373.4(WWOX): c.511G> T (p.Glu171Ter) single nucleotide variant Likely pathogenic rs751181600 16:78198181-78198181 16:78164284-78164284
15 WWOX NC_000016.9: g.(?_78458747)_(78466669_?)dup duplication Likely pathogenic 16:78458747-78466669 16:78424850-78432772
16 WWOX deletion Likely pathogenic
17 WWOX NC_000016.9: g.(?_78420737)_(78466669_?)del deletion Likely pathogenic 16:78420737-78466669 16:78386840-78432772
18 WWOX NM_016373.4(WWOX): c.1146C> T (p.Cys382=) single nucleotide variant Conflicting interpretations of pathogenicity rs780939546 16:79245594-79245594 16:79211697-79211697
19 WWOX NM_016373.4(WWOX): c.1178C> T (p.Thr393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139253468 16:79245626-79245626 16:79211729-79211729
20 WWOX NM_016373.4(WWOX): c.421G> A (p.Ala141Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs369907002 16:78198091-78198091 16:78164194-78164194
21 WWOX NM_016373.4(WWOX): c.816G> T (p.Leu272Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs186745328 16:78466409-78466409 16:78432512-78432512
22 WWOX NM_016373.4(WWOX): c.885G> A (p.Arg295=) single nucleotide variant Conflicting interpretations of pathogenicity rs79771882 16:78466478-78466478 16:78432581-78432581
23 WWOX NM_016373.4(WWOX): c.1115G> A (p.Gly372Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064793798 16:79245563-79245563 16:79211666-79211666
24 WWOX NM_016373.4(WWOX): c.332C> G (p.Thr111Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs114755364 16:78148974-78148974 16:78115077-78115077
25 WWOX NM_016373.4(WWOX): c.410-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201178351 16:78198077-78198077 16:78164180-78164180
26 WWOX NM_016373.4(WWOX): c.517-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199820033 16:78420747-78420747 16:78386850-78386850
27 WWOX NM_016373.4(WWOX): c.605+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs1039151413 16:78420850-78420850 16:78386953-78386953
28 WWOX NM_016373.4(WWOX): c.468G> T (p.Arg156Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140817689 16:78198138-78198138 16:78164241-78164241
29 WWOX NM_016373.4(WWOX): c.410G> A (p.Gly137Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs761879076 16:78198080-78198080 16:78164183-78164183
30 WWOX NC_000016.9: g.(?_78133656)_(78198206_?)dup duplication Uncertain significance 16:78133656-78198206 16:78099759-78164309
31 WWOX NM_016373.4(WWOX): c.869T> C (p.Met290Thr) single nucleotide variant Uncertain significance rs1035627222 16:78466462-78466462 16:78432565-78432565
32 WWOX NM_016373.4(WWOX): c.90C> T (p.Gly30=) single nucleotide variant Uncertain significance rs772839022 16:78133765-78133765 16:78099868-78099868
33 WWOX NM_016373.4(WWOX): c.562C> T (p.Arg188Cys) single nucleotide variant Uncertain significance rs199511589 16:78420802-78420802 16:78386905-78386905
34 WWOX NM_016373.4(WWOX): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs370367979 16:78420826-78420826 16:78386929-78386929
35 WWOX NM_016373.4(WWOX): c.715C> G (p.Leu239Val) single nucleotide variant Uncertain significance rs575080327 16:78458876-78458876 16:78424979-78424979
36 WWOX NM_016373.4(WWOX): c.791+5G> C single nucleotide variant Uncertain significance rs756074406 16:78458957-78458957 16:78425060-78425060
37 WWOX NM_016373.4(WWOX): c.310C> T (p.Arg104Trp) single nucleotide variant Uncertain significance rs750226191 16:78148952-78148952 16:78115055-78115055
38 WWOX NM_016373.4(WWOX): c.946G> C (p.Val316Leu) single nucleotide variant Uncertain significance rs201941494 16:78466539-78466539 16:78432642-78432642
39 WWOX NM_016373.4(WWOX): c.994C> T (p.His332Tyr) single nucleotide variant Uncertain significance rs923399366 16:78466587-78466587 16:78432690-78432690
40 WWOX NM_016373.4(WWOX): c.513A> G (p.Glu171=) single nucleotide variant Uncertain significance rs1060502728 16:78198183-78198183 16:78164286-78164286
41 WWOX NM_016373.4(WWOX): c.1238C> G (p.Ser413Cys) single nucleotide variant Uncertain significance rs117065412 16:79245686-79245686 16:79211789-79211789
42 WWOX NM_016373.4(WWOX): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs1336300148 16:78133682-78133682 16:78099785-78099785
43 WWOX NM_016373.4(WWOX): c.385G> C (p.Val129Leu) single nucleotide variant Uncertain significance rs781732002 16:78149027-78149027 16:78115130-78115130
44 WWOX NM_016373.4(WWOX): c.406A> G (p.Ile136Val) single nucleotide variant Uncertain significance rs193027041 16:78149048-78149048 16:78115151-78115151
45 WWOX NM_016373.4(WWOX): c.535G> T (p.Ala179Ser) single nucleotide variant Uncertain significance rs11545029 16:78420775-78420775 16:78386878-78386878
46 WWOX NM_016373.4(WWOX): c.568G> A (p.Val190Met) single nucleotide variant Uncertain significance rs769400934 16:78420808-78420808 16:78386911-78386911
47 WWOX NM_016373.4(WWOX): c.673C> G (p.Leu225Val) single nucleotide variant Uncertain significance rs376040091 16:78458834-78458834 16:78424937-78424937
48 WWOX NM_016373.4(WWOX): c.1114G> T (p.Gly372Ter) single nucleotide variant Uncertain significance rs587777127 16:79245562-79245562 16:79211665-79211665
49 WWOX NM_016373.4(WWOX): c.1204G> A (p.Glu402Lys) single nucleotide variant Uncertain significance rs200839945 16:79245652-79245652 16:79211755-79211755
50 WWOX NM_016373.4(WWOX): c.1240G> A (p.Gly414Ser) single nucleotide variant Uncertain significance rs201606637 16:79245688-79245688 16:79211791-79211791

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 12:

74
# Symbol AA change Variation ID SNP ID
1 WWOX p.Pro47Thr VAR_070992 rs587777128
2 WWOX p.Gly372Arg VAR_070993 rs587777127

Expression for Spinocerebellar Ataxia, Autosomal Recessive 12

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 12.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 12

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 12

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.96 WWOX MAF
2 negative regulation of transcription by RNA polymerase II GO:0000122 8.62 WWOX MAF

Sources for Spinocerebellar Ataxia, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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