SCAR12
MCID: SPN264
MIFTS: 35

Spinocerebellar Ataxia, Autosomal Recessive 12 (SCAR12)

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 12

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 12:

Name: Spinocerebellar Ataxia, Autosomal Recessive 12 56 29 13 6 71
Scar12 56 58 73
Autosomal Recessive Spinocerebellar Ataxia 12 12 15
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Wwox Deficiency 58
Spinocerebellar Ataxia with Mental Retardation and Epilepsy 56
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12 39
Autosomal Recessive Spinocerebellar Ataxia Type 12 58
Spinocerebellar Ataxia, Autosomal Recessive, 12 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
spinocerebellar ataxia, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 73 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 epithelial predominant wilms' tumor, 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, cerebellum and spinal cord, and related phenotypes are nystagmus and dysarthria

OMIM : 56 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 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

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 9.6 WWOX MAF
2 epithelial predominant wilms' tumor 9.4 MAF IGFBP7

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 12

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 12:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
5 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
6 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
7 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
8 urinary bladder sphincter dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002839
9 spasticity 31 occasional (7.5%) HP:0001257
10 retinal degeneration 31 occasional (7.5%) HP:0000546
11 optic atrophy 31 occasional (7.5%) HP:0000648
12 growth delay 31 occasional (7.5%) HP:0001510
13 babinski sign 31 occasional (7.5%) HP:0003487
14 intellectual disability 31 HP:0001249
15 seizures 31 HP:0001250
16 global developmental delay 31 HP:0001263
17 microcephaly 31 HP:0000252
18 cerebellar atrophy 31 HP:0001272
19 gaze-evoked nystagmus 31 HP:0000640

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Cerebellum, Spinal Cord, Liver, Skin

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. 56 6
24369382 2014
2
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. 56 6
17470496 2007
3
Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy. 61
31669195 2019
4
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus. 61
30290271 2019
5
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation. 61
30094525 2018
6
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. 61
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 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WWOX NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)SNV Pathogenic 100648 rs587777127 16:79245562-79245562 16:79211665-79211665
2 WWOX NM_016373.4(WWOX):c.139C>A (p.Pro47Thr)SNV Pathogenic 100649 rs587777128 16:78142351-78142351 16:78108454-78108454
3 WWOX NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)SNV Pathogenic 120325 rs587777248 16:78142372-78142372 16:78108475-78108475
4 WWOX NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)SNV Pathogenic 241104 rs878855021 16:78458940-78458940 16:78425043-78425043
5 WWOX NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)SNV Pathogenic 241105 rs756762196 16:78458951-78458951 16:78425054-78425054
6 WWOX duplication Pathogenic 473015 16:78318746-78386940
7 WWOX NC_000016.9:g.(?_78466365)_(78466669_?)deldeletion Pathogenic 540247 16:78466365-78466669 16:78432468-78432772
8 WWOX NC_000016.9:g.(?_78420737)_(78420865_?)deldeletion Pathogenic 583631 16:78420737-78420865 16:78386840-78386968
9 WWOX NC_000016.9:g.(?_78198060)_(78198206_?)deldeletion Pathogenic 584160 16:78198060-78198206 16:78164163-78164309
10 WWOX NC_000016.9:g.(?_79245485)_(79245713_?)deldeletion Pathogenic 657908 16:79245485-79245713 16:79211588-79211816
11 WWOX NM_016373.4(WWOX):c.107+1G>ASNV Pathogenic 689796 16:78133783-78133783 16:78099886-78099886
12 WWOX NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)SNV Pathogenic/Likely pathogenic 568364 rs1567542020 16:78420823-78420823 16:78386926-78386926
13 WWOX NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)SNV Pathogenic/Likely pathogenic 449920 rs201008667 16:78143716-78143716 16:78109819-78109819
14 WWOX NM_016373.4(WWOX):c.409+1G>CSNV Likely pathogenic 410092 rs1060502727 16:78149052-78149052 16:78115155-78115155
15 WWOX NM_016373.4(WWOX):c.511G>T (p.Glu171Ter)SNV Likely pathogenic 225517 rs751181600 16:78198181-78198181 16:78164284-78164284
16 WWOX deletion Likely pathogenic 473016 16:78424850-78425075
17 WWOX NM_016373.4(WWOX):c.108-2A>TSNV Likely pathogenic 804478 16:78142318-78142318 16:78108421-78108421
18 WWOX NC_000016.9:g.(?_78458747)_(78466669_?)dupduplication Likely pathogenic 583590 16:78458747-78466669 16:78424850-78432772
19 WWOX NC_000016.9:g.(?_78420737)_(78466669_?)deldeletion Likely pathogenic 584296 16:78420737-78466669 16:78386840-78432772
20 WWOX NM_016373.4(WWOX):c.1146C>T (p.Cys382=)SNV Conflicting interpretations of pathogenicity 384388 rs780939546 16:79245594-79245594 16:79211697-79211697
21 WWOX NM_016373.4(WWOX):c.605+5G>ASNV Conflicting interpretations of pathogenicity 450592 rs1039151413 16:78420850-78420850 16:78386953-78386953
22 WWOX NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)SNV Conflicting interpretations of pathogenicity 419331 rs1064793798 16:79245563-79245563 16:79211666-79211666
23 WWOX NM_016373.4(WWOX):c.517-10C>GSNV Conflicting interpretations of pathogenicity 385828 rs199820033 16:78420747-78420747 16:78386850-78386850
24 WWOX NM_016373.4(WWOX):c.410-3T>CSNV Conflicting interpretations of pathogenicity 388457 rs201178351 16:78198077-78198077 16:78164180-78164180
25 WWOX NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)SNV Uncertain significance 391689 rs767667847 16:79245514-79245514 16:79211617-79211617
26 WWOX NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)SNV Uncertain significance 373531 rs897453553 16:78466444-78466444 16:78432547-78432547
27 WWOX NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)deletion Uncertain significance 374383 rs770788315 16:79245677-79245679 16:79211780-79211782
28 WWOX NM_016373.4(WWOX):c.517-108226G>TSNV Uncertain significance 374382 rs1057518676 16:78312531-78312531 16:78278634-78278634
29 WWOX NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)SNV Uncertain significance 377189 rs142806268 16:78458874-78458874 16:78424977-78424977
30 WWOX NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)SNV Uncertain significance 241107 rs374541202 16:78466491-78466491 16:78432594-78432594
31 WWOX NM_016373.4(WWOX):c.965A>G (p.His322Arg)SNV Uncertain significance 241108 rs878855022 16:78466558-78466558 16:78432661-78432661
32 WWOX NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys)SNV Uncertain significance 241098 rs766309882 16:78133776-78133776 16:78099879-78099879
33 WWOX NM_016373.4(WWOX):c.251C>G (p.Thr84Ser)SNV Uncertain significance 426908 rs757145186 16:78148893-78148893 16:78114996-78114996
34 WWOX NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)SNV Uncertain significance 432543 rs201228765 16:78198169-78198169 16:78164272-78164272
35 WWOX NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)SNV Uncertain significance 433131 rs117209694 16:78466583-78466583 16:78432686-78432686
36 WWOX NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)SNV Uncertain significance 433132 rs144234059 16:79245670-79245670 16:79211773-79211773
37 WWOX NM_016373.4(WWOX):c.635C>T (p.Ala212Val)SNV Uncertain significance 437304 rs202006159 16:78458796-78458796 16:78424899-78424899
38 WWOX NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)SNV Uncertain significance 444378 rs761879076 16:78198080-78198080 16:78164183-78164183
39 WWOX NM_016373.4(WWOX):c.673C>G (p.Leu225Val)SNV Uncertain significance 451480 rs376040091 16:78458834-78458834 16:78424937-78424937
40 WWOX NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)SNV Uncertain significance 450593 rs587777127 16:79245562-79245562 16:79211665-79211665
41 WWOX NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)SNV Uncertain significance 449787 rs200839945 16:79245652-79245652 16:79211755-79211755
42 WWOX NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)SNV Uncertain significance 449677 rs201606637 16:79245688-79245688 16:79211791-79211791
43 WWOX NM_016373.4(WWOX):c.440A>G (p.His147Arg)SNV Uncertain significance 410082 rs188859796 16:78198110-78198110 16:78164213-78164213
44 WWOX NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)SNV Uncertain significance 410086 rs199511589 16:78420802-78420802 16:78386905-78386905
45 WWOX NM_016373.4(WWOX):c.995A>C (p.His332Pro)SNV Uncertain significance 410095 rs775584864 16:78466588-78466588 16:78432691-78432691
46 WWOX NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro)SNV Uncertain significance 410094 rs1060502729 16:79245610-79245610 16:79211713-79211713
47 WWOX NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs)deletion Uncertain significance 410090 rs1064792969 16:79245626-79245657 16:79211729-79211760
48 WWOX NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg)SNV Uncertain significance 410096 rs372635911 16:79245618-79245618 16:79211721-79211721
49 WWOX NM_016373.4(WWOX):c.937C>G (p.Pro313Ala)SNV Uncertain significance 410083 rs370345936 16:78466530-78466530 16:78432633-78432633
50 WWOX NM_016373.4(WWOX):c.943G>A (p.Gly315Arg)SNV Uncertain significance 410091 rs768172617 16:78466536-78466536 16:78432639-78432639

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

73
# 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

Sources for Spinocerebellar Ataxia, Autosomal Recessive 12

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