MCID: SPN264
MIFTS: 31

Spinocerebellar Ataxia, Autosomal Recessive 12

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Skin diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver 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 73
Scar12 57 59 75
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 75
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


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 12: Spinocerebellar ataxia is 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 cerebellar ataxia, seizures and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 12 is WWOX (WW Domain Containing Oxidoreductase). Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are nystagmus and delayed speech and language development

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, 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

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 9.0 MAF WWOX

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 12

Symptoms via clinical synopsis from OMIM:

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

Neurologic Peripheral Nervous System:
hyporeflexia


Clinical features from OMIM:

614322

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

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 12:


cerebellar ataxia, seizures, gait 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
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 12

Variations for Spinocerebellar Ataxia, Autosomal Recessive 12

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

75
# Symbol AA change Variation ID SNP ID
1 WWOX p.Pro47Thr VAR_070992 rs587777128
2 WWOX p.Gly372Arg VAR_070993 rs587777127

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

6
(show top 50) (show all 229)
# Gene Variation Type Significance SNP ID Assembly Location
1 WWOX NM_016373.3(WWOX): c.1114G> C (p.Gly372Arg) single nucleotide variant Pathogenic rs587777127 GRCh37 Chromosome 16, 79245562: 79245562
2 WWOX NM_016373.3(WWOX): c.1114G> C (p.Gly372Arg) single nucleotide variant Pathogenic rs587777127 GRCh38 Chromosome 16, 79211665: 79211665
3 WWOX NM_016373.3(WWOX): c.139C> A (p.Pro47Thr) single nucleotide variant Pathogenic rs587777128 GRCh37 Chromosome 16, 78142351: 78142351
4 WWOX NM_016373.3(WWOX): c.139C> A (p.Pro47Thr) single nucleotide variant Pathogenic rs587777128 GRCh38 Chromosome 16, 78108454: 78108454
5 WWOX NM_016373.3(WWOX): c.885G> A (p.Arg295=) single nucleotide variant Conflicting interpretations of pathogenicity rs79771882 GRCh37 Chromosome 16, 78466478: 78466478
6 WWOX NM_016373.3(WWOX): c.885G> A (p.Arg295=) single nucleotide variant Conflicting interpretations of pathogenicity rs79771882 GRCh38 Chromosome 16, 78432581: 78432581
7 WWOX NM_016373.3(WWOX): c.358C> T (p.Arg120Trp) single nucleotide variant Benign/Likely benign rs141361080 GRCh37 Chromosome 16, 78149000: 78149000
8 WWOX NM_016373.3(WWOX): c.358C> T (p.Arg120Trp) single nucleotide variant Benign/Likely benign rs141361080 GRCh38 Chromosome 16, 78115103: 78115103
9 WWOX NM_001291997.1(WWOX): c.172G> T (p.Glu58Ter) single nucleotide variant Likely pathogenic rs751181600 GRCh37 Chromosome 16, 78198181: 78198181
10 WWOX NM_001291997.1(WWOX): c.172G> T (p.Glu58Ter) single nucleotide variant Likely pathogenic rs751181600 GRCh38 Chromosome 16, 78164284: 78164284
11 WWOX NM_016373.3(WWOX): c.1141C> T (p.Arg381Cys) single nucleotide variant Benign/Likely benign rs200461412 GRCh37 Chromosome 16, 79245589: 79245589
12 WWOX NM_016373.3(WWOX): c.1141C> T (p.Arg381Cys) single nucleotide variant Benign/Likely benign rs200461412 GRCh38 Chromosome 16, 79211692: 79211692
13 WWOX NM_016373.3(WWOX): c.835C> T (p.Arg279Cys) single nucleotide variant Benign/Likely benign rs77314072 GRCh37 Chromosome 16, 78466428: 78466428
14 WWOX NM_016373.3(WWOX): c.835C> T (p.Arg279Cys) single nucleotide variant Benign/Likely benign rs77314072 GRCh38 Chromosome 16, 78432531: 78432531
15 WWOX NM_016373.3(WWOX): c.101A> G (p.Tyr34Cys) single nucleotide variant Uncertain significance rs766309882 GRCh37 Chromosome 16, 78133776: 78133776
16 WWOX NM_016373.3(WWOX): c.101A> G (p.Tyr34Cys) single nucleotide variant Uncertain significance rs766309882 GRCh38 Chromosome 16, 78099879: 78099879
17 WWOX NM_016373.3(WWOX): c.293C> T (p.Pro98Leu) single nucleotide variant Benign/Likely benign rs144601717 GRCh37 Chromosome 16, 78148935: 78148935
18 WWOX NM_016373.3(WWOX): c.293C> T (p.Pro98Leu) single nucleotide variant Benign/Likely benign rs144601717 GRCh38 Chromosome 16, 78115038: 78115038
19 WWOX NM_016373.3(WWOX): c.351C> G (p.Leu117=) single nucleotide variant Benign rs34944716 GRCh38 Chromosome 16, 78115096: 78115096
20 WWOX NM_016373.3(WWOX): c.351C> G (p.Leu117=) single nucleotide variant Benign rs34944716 GRCh37 Chromosome 16, 78148993: 78148993
21 WWOX NM_016373.3(WWOX): c.605+9T> A single nucleotide variant Likely benign rs368853054 GRCh37 Chromosome 16, 78420854: 78420854
22 WWOX NM_016373.3(WWOX): c.605+9T> A single nucleotide variant Likely benign rs368853054 GRCh38 Chromosome 16, 78386957: 78386957
23 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh37 Chromosome 16, 78458940: 78458940
24 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh38 Chromosome 16, 78425043: 78425043
25 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh38 Chromosome 16, 78425054: 78425054
26 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh37 Chromosome 16, 78458951: 78458951
27 WWOX NM_016373.3(WWOX): c.816G> T (p.Leu272Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs186745328 GRCh37 Chromosome 16, 78466409: 78466409
28 WWOX NM_016373.3(WWOX): c.816G> T (p.Leu272Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs186745328 GRCh38 Chromosome 16, 78432512: 78432512
29 WWOX NM_016373.3(WWOX): c.898A> G (p.Asn300Asp) single nucleotide variant Uncertain significance rs374541202 GRCh37 Chromosome 16, 78466491: 78466491
30 WWOX NM_016373.3(WWOX): c.898A> G (p.Asn300Asp) single nucleotide variant Uncertain significance rs374541202 GRCh38 Chromosome 16, 78432594: 78432594
31 WWOX NM_016373.3(WWOX): c.965A> G (p.His322Arg) single nucleotide variant Uncertain significance rs878855022 GRCh37 Chromosome 16, 78466558: 78466558
32 WWOX NM_016373.3(WWOX): c.965A> G (p.His322Arg) single nucleotide variant Uncertain significance rs878855022 GRCh38 Chromosome 16, 78432661: 78432661
33 WWOX NM_016373.3(WWOX): c.1238C> A (p.Ser413Tyr) single nucleotide variant Benign rs117065412 GRCh37 Chromosome 16, 79245686: 79245686
34 WWOX NM_016373.3(WWOX): c.1238C> A (p.Ser413Tyr) single nucleotide variant Benign rs117065412 GRCh38 Chromosome 16, 79211789: 79211789
35 WWOX NM_016373.3(WWOX): c.1239C> T (p.Ser413=) single nucleotide variant Benign rs199576434 GRCh38 Chromosome 16, 79211790: 79211790
36 WWOX NM_016373.3(WWOX): c.1239C> T (p.Ser413=) single nucleotide variant Benign rs199576434 GRCh37 Chromosome 16, 79245687: 79245687
37 WWOX NM_016373.3(WWOX): c.547G> A (p.Asp183Asn) single nucleotide variant Benign rs74944733 GRCh38 Chromosome 16, 78386890: 78386890
38 WWOX NM_016373.3(WWOX): c.547G> A (p.Asp183Asn) single nucleotide variant Benign rs74944733 GRCh37 Chromosome 16, 78420787: 78420787
39 WWOX NM_016373.3(WWOX): c.613C> A (p.His205Asn) single nucleotide variant Benign/Likely benign rs74860463 GRCh37 Chromosome 16, 78458774: 78458774
40 WWOX NM_016373.3(WWOX): c.613C> A (p.His205Asn) single nucleotide variant Benign/Likely benign rs74860463 GRCh38 Chromosome 16, 78424877: 78424877
41 WWOX NM_016373.3(WWOX): c.646C> G (p.Leu216Val) single nucleotide variant Benign rs7201683 GRCh38 Chromosome 16, 78424910: 78424910
42 WWOX NM_016373.3(WWOX): c.646C> G (p.Leu216Val) single nucleotide variant Benign rs7201683 GRCh37 Chromosome 16, 78458807: 78458807
43 WWOX NM_016373.3(WWOX): c.941G> A (p.Arg314His) single nucleotide variant Benign rs73572838 GRCh37 Chromosome 16, 78466534: 78466534
44 WWOX NM_016373.3(WWOX): c.941G> A (p.Arg314His) single nucleotide variant Benign rs73572838 GRCh38 Chromosome 16, 78432637: 78432637
45 WWOX NM_016373.3(WWOX): c.851A> G (p.Lys284Arg) single nucleotide variant Uncertain significance rs897453553 GRCh37 Chromosome 16, 78466444: 78466444
46 WWOX NM_016373.3(WWOX): c.851A> G (p.Lys284Arg) single nucleotide variant Uncertain significance rs897453553 GRCh38 Chromosome 16, 78432547: 78432547
47 WWOX NM_016373.3(WWOX): c.1231_1233delAGC (p.Ser411del) deletion Uncertain significance rs1057518675 GRCh38 Chromosome 16, 79211782: 79211784
48 WWOX NM_016373.3(WWOX): c.1231_1233delAGC (p.Ser411del) deletion Uncertain significance rs1057518675 GRCh37 Chromosome 16, 79245679: 79245681
49 WWOX NM_130791.3(WWOX): c.548G> T (p.Cys183Phe) single nucleotide variant Uncertain significance rs1057518676 GRCh37 Chromosome 16, 78312531: 78312531
50 WWOX NM_130791.3(WWOX): c.548G> T (p.Cys183Phe) single nucleotide variant Uncertain significance rs1057518676 GRCh38 Chromosome 16, 78278634: 78278634

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 9.16 MAF WWOX
2 negative regulation of transcription by RNA polymerase II GO:0000122 8.96 MAF WWOX
3 transcription by RNA polymerase II GO:0006366 8.62 MAF WWOX

Sources for Spinocerebellar Ataxia, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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