SCAR2
MCID: SPN200
MIFTS: 34

Spinocerebellar Ataxia, Autosomal Recessive 2 (SCAR2)

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 2

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 2:

Name: Spinocerebellar Ataxia, Autosomal Recessive 2 57 20 29 13 6 70
Scar2 57 20 58 72
Cpd3 57 20 72
Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital 57 72
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 20 58
Cerebellar Hypoplasia, Nonprogressive Norman Type 57 20
Cerebelloparenchymal Disorder Iii 57 72
Cpd Iii 57 72
Cerebellar Hypoplasia, Non-Progressive Norman Type 72
Autosomal Recessive Spinocerebellar Ataxia Type 2 58
Spinocerebellar Ataxia, Autosomal Recessive, 2 72
Autosomal Recessive Spinocerebellar Ataxia 2 12
Cerebelloparenchymal Disorder Iii; Cpd3 57
Cerebelloparenchymal Disorder 3 20
Cpdiii 20

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebelloparenchymal disorder type 3
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or in the first year of life
later onset in adolescence has rarely been reported
non- or slowly progressive
some patients do not achieve independent ambulation


HPO:

31
spinocerebellar ataxia, autosomal recessive 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 2

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1170 Definition The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 2, also known as scar2, is related to spinocerebellar ataxia, autosomal recessive 3 and wiskott-aldrich syndrome, and has symptoms including tremor, gait ataxia and muscle spasticity. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 2 is PMPCA (Peptidase, Mitochondrial Processing Subunit Alpha). Affiliated tissues include eye, liver and cerebellum, and related phenotypes are intellectual disability and dysarthria

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has material basis in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by Jobling et al., 2015). (213200) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 2: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 2

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 3 9.9
2 wiskott-aldrich syndrome 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 2

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 2:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 dysmetria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001310
6 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
7 gaze-evoked nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000640
8 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
9 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
10 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
11 progressive psychomotor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007272
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
14 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
15 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
16 diffuse cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002506
17 poor motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002275
18 hypotonia 31 frequent (33%) HP:0001252
19 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
22 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
23 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
24 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
25 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280
26 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
27 dilated fourth ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0002198
28 nystagmus 31 occasional (7.5%) HP:0000639
29 pes cavus 31 occasional (7.5%) HP:0001761
30 hyporeflexia 31 occasional (7.5%) HP:0001265
31 hyperreflexia 31 HP:0001347
32 ataxia 58 Very frequent (99-80%)
33 muscular hypotonia 58 Frequent (79-30%)
34 cognitive impairment 58 Frequent (79-30%)
35 cerebellar hypoplasia 31 HP:0001321
36 generalized hypotonia 31 HP:0001290
37 unsteady gait 31 HP:0002317
38 saccadic smooth pursuit 31 HP:0001152
39 limb ataxia 31 HP:0002070
40 incoordination 31 HP:0002311
41 gliosis 31 HP:0002171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
dysarthria
tremor
dysmetria
more
Head And Neck Eyes:
nystagmus
saccadic smooth pursuit

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyperreflexia
hyporeflexia (less common)

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

213200 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 2:


tremor; gait ataxia; muscle spasticity

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 2

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 2

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 2 29 PMPCA

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 2

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 2:

40
Eye, Liver, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 2

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 2:

(show all 24)
# Title Authors PMID Year
1
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 6 57
26657514 2016
2
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 57 6
25808372 2015
3
Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. 57 6
10528257 1999
4
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. 57
11506409 2001
5
Virus-induced cerebellar hypoplasia. 57
5753523 1968
6
Viral etiology of spontaneous ataxia of cats. 57
5949797 1966
7
Concordant primary atrophy of the cerebellar granules in monozygotic twins. 57
13180188 1954
8
Early familial cerebellar degeneration; report of 3 cases in one family. 57
15412354 1950
9
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. 61
33272776 2021
10
ARP2/3-independent WAVE/SCAR pathway and class XI myosin control sperm nuclear migration in flowering plants. 61
33288691 2020
11
Developmental Modulation of Root Cell Wall Architecture Confers Resistance to an Oomycete Pathogen. 61
32888486 2020
12
Molecular phylogenetic species in Alternaria pathogens infecting pistachio and wild relatives. 61
29755919 2018
13
A Nanostructured Lipid System to Improve the Oral Bioavailability of Ruthenium(II) Complexes for the Treatment of Infections Caused by Mycobacterium tuberculosis. 61
30574128 2018
14
SCARN a Novel Class of SCAR Protein That Is Required for Root-Hair Infection during Legume Nodulation. 61
26517270 2015
15
The conservation and application of three hypothetical protein coding gene for direct detection of Mycobacterium tuberculosis in sputum specimens. 61
24058507 2013
16
N-WASP involvement in dorsal ruffle formation in mouse embryonic fibroblasts. 61
17182853 2007
17
Arabidopsis BRICK1/HSPC300 is an essential WAVE-complex subunit that selectively stabilizes the Arp2/3 activator SCAR2. 61
16584883 2006
18
IRREGULAR TRICHOME BRANCH1 in Arabidopsis encodes a plant homolog of the actin-related protein2/3 complex activator Scar/WAVE that regulates actin and microtubule organization. 61
16006582 2005
19
DISTORTED3/SCAR2 is a putative arabidopsis WAVE complex subunit that activates the Arp2/3 complex and is required for epidermal morphogenesis. 61
15659634 2005
20
Patterns of trichothecene production, genetic variability, and virulence to wheat of Fusarium graminearum from smallholder farms in Nepal. 61
15453711 2004
21
The development of ISSR-derived SCAR markers around the SEASONAL FLOWERING LOCUS (SFL) in Fragaria vesca. 61
15292991 2004
22
Development of SCAR markers for the DNA-based detection of the Asian long-horned beetle, Anoplophora glabripennis (Motschulsky). 61
12655607 2003
23
Involvement of the Arp2/3 complex and Scar2 in Golgi polarity in scratch wound models. 61
12589062 2003
24
Selection of ligands by panning of domain libraries displayed on phage lambda reveals new potential partners of synaptojanin 1. 61
11292345 2001

Variations for Spinocerebellar Ataxia, Autosomal Recessive 2

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 2:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMPCA NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) SNV Pathogenic 221565 rs869025293 GRCh37: 9:139317681-139317681
GRCh38: 9:136423229-136423229
2 PMPCA NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) SNV Pathogenic 221564 rs869025292 GRCh37: 9:139306954-139306954
GRCh38: 9:136412502-136412502
3 PMPCA NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp) SNV Pathogenic 375400 rs1057519454 GRCh37: 9:139305184-139305184
GRCh38: 9:136410732-136410732
4 PMPCA NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) SNV Pathogenic 375401 rs573267388 GRCh37: 9:139310764-139310764
GRCh38: 9:136416312-136416312
5 PMPCA NM_015160.3(PMPCA):c.766G>A (p.Val256Met) SNV Pathogenic 221566 rs746549806 GRCh37: 9:139311535-139311535
GRCh38: 9:136417083-136417083
6 PMPCA NM_015160.3(PMPCA):c.300_302del (p.Tyr100_Glu101delinsTer) Deletion Pathogenic 1027946 GRCh37: 9:139306966-139306968
GRCh38: 9:136412514-136412516
7 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
8 PMPCA NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) SNV Uncertain significance 1027947 GRCh37: 9:139309052-139309052
GRCh38: 9:136414600-136414600
9 PMPCA NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) SNV Uncertain significance 1027948 GRCh37: 9:139311572-139311572
GRCh38: 9:136417120-136417120
10 PMPCA NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) SNV Uncertain significance 1033740 GRCh37: 9:139313500-139313500
GRCh38: 9:136419048-136419048
11 PMPCA NM_015160.3(PMPCA):c.258G>C (p.Gln86His) SNV Uncertain significance 1033741 GRCh37: 9:139306635-139306635
GRCh38: 9:136412183-136412183
12 PMPCA NM_015160.3(PMPCA):c.897+6G>A SNV Uncertain significance 1033742 GRCh37: 9:139311672-139311672
GRCh38: 9:136417220-136417220

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 2:

72
# Symbol AA change Variation ID SNP ID
1 PMPCA p.Ser96Leu VAR_076237 rs869025292
2 PMPCA p.Val256Met VAR_076238 rs746549806
3 PMPCA p.Ala377Thr VAR_076239 rs753611141
4 PMPCA p.Gly515Arg VAR_076240 rs869025293

Expression for Spinocerebellar Ataxia, Autosomal Recessive 2

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 2.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 2

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 2

Sources for Spinocerebellar Ataxia, Autosomal Recessive 2

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57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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