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, 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 58 54 30 13 6 74
Scar2 58 54 60 76
Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital 58 54 76
Cpd3 58 54 76
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 54 60
Cerebellar Hypoplasia, Nonprogressive Norman Type 58 54
Cerebelloparenchymal Disorder Iii 58 76
Cpd Iii 58 76
Cerebellar Hypoplasia, Non-Progressive Norman Type 76
Autosomal Recessive Spinocerebellar Ataxia Type 2 60
Spinocerebellar Ataxia, Autosomal Recessive, 2 76
Autosomal Recessive Spinocerebellar Ataxia 2 12
Cerebelloparenchymal Disorder Iii; Cpd3 58
Cerebelloparenchymal Disorder 3 54
Cpdiii 54

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive cerebelloparenchymal disorder type 3
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

58
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:

33
spinocerebellar ataxia, autosomal recessive 2:
Onset and clinical course infantile onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 2

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1170Disease definitionThe 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 2, is also known as scar2, 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 Alpha Subunit). Affiliated tissues include eye, cerebellum and brain, and related phenotypes are nystagmus and ataxia

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 2

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 2:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000639
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
5 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
6 generalized hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007513
7 white hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0011364
8 ocular albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001107
9 abnormal retinal vascular morphology 33 hallmark (90%) HP:0008046
10 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
11 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
12 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
13 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
14 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
15 short stature 33 occasional (7.5%) HP:0004322
16 pes cavus 33 occasional (7.5%) HP:0001761
17 hyporeflexia 33 occasional (7.5%) HP:0001265
18 spasticity 33 HP:0001257
19 dysarthria 33 HP:0001260
20 tremor 33 HP:0001337
21 hyperreflexia 33 HP:0001347
22 global developmental delay 33 HP:0001263
23 gait ataxia 33 HP:0002066
24 limb ataxia 33 HP:0002070
25 dysmetria 33 HP:0001310
26 abnormality of the retinal vasculature 60 Very frequent (99-80%)
27 cerebellar hypoplasia 33 HP:0001321
28 saccadic smooth pursuit 33 HP:0001152
29 generalized hypotonia 33 HP:0001290
30 gliosis 33 HP:0002171
31 incoordination 33 HP:0002311
32 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
saccadic smooth pursuit

Neurologic Peripheral Nervous System:
hyperreflexia
hyporeflexia (less common)

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
intellectual disability
spasticity
dysarthria
tremor
gait ataxia
more
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

213200

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 2:


tremor, gait ataxia, muscle spasticity

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Karydakis Procedure Versus Excision With Healing by Secondary Intention (EHSI) in Sacrococcygeal Pilonidal Sinus Completed NCT00716937 Phase 4
2 Treatment of Keloid Scar by Autologous Platelet Rich Plasma Obtained With RgenKit-BCT Completed NCT02922972 Not Applicable
3 Safety and Efficacy of Different Onset Times of Treatment With Pulsed Dye Laser on Improvement of Surgical Scars Terminated NCT00506363 Not Applicable
4 Safety and Efficacy of Different Intervals of Pulsed Dye Laser Sessions on Improvement of Surgical Scars Withdrawn NCT00506090 Not Applicable

Search 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 30 PMPCA

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 2

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

42
Eye, Cerebellum, Brain, Spinal Cord, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 2

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 2:

# Title Authors Year
1
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657514 )
2016
2
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. ( 25808372 )
2015
3
Arabidopsis BRICK1/HSPC300 is an essential WAVE-complex subunit that selectively stabilizes the Arp2/3 activator SCAR2. ( 16584883 )
2006
4
DISTORTED3/SCAR2 is a putative arabidopsis WAVE complex subunit that activates the Arp2/3 complex and is required for epidermal morphogenesis. ( 15659634 )
2005
5
Involvement of the Arp2/3 complex and Scar2 in Golgi polarity in scratch wound models. ( 12589062 )
2003
6
Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. ( 10528257 )
1999

Variations for Spinocerebellar Ataxia, Autosomal Recessive 2

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

76
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
2 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh37 Chromosome 9, 139313299: 139313299
3 PMPCA NM_015160.2(PMPCA): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs869025292 GRCh37 Chromosome 9, 139306954: 139306954
4 PMPCA NM_015160.2(PMPCA): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs869025292 GRCh38 Chromosome 9, 136412502: 136412502
5 PMPCA NM_015160.2(PMPCA): c.1543G> A (p.Gly515Arg) single nucleotide variant Pathogenic rs869025293 GRCh37 Chromosome 9, 139317681: 139317681
6 PMPCA NM_015160.2(PMPCA): c.1543G> A (p.Gly515Arg) single nucleotide variant Pathogenic rs869025293 GRCh38 Chromosome 9, 136423229: 136423229
7 PMPCA NM_015160.2(PMPCA): c.766G> A (p.Val256Met) single nucleotide variant Pathogenic rs746549806 GRCh38 Chromosome 9, 136417083: 136417083
8 PMPCA NM_015160.2(PMPCA): c.766G> A (p.Val256Met) single nucleotide variant Pathogenic rs746549806 GRCh37 Chromosome 9, 139311535: 139311535
9 PMPCA NM_015160.2(PMPCA): c.64C> T (p.Arg22Trp) single nucleotide variant Pathogenic rs1057519454 GRCh38 Chromosome 9, 136410732: 136410732
10 PMPCA NM_015160.2(PMPCA): c.64C> T (p.Arg22Trp) single nucleotide variant Pathogenic rs1057519454 GRCh37 Chromosome 9, 139305184: 139305184
11 PMPCA NM_015160.2(PMPCA): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs573267388 GRCh38 Chromosome 9, 136416312: 136416312
12 PMPCA NM_015160.2(PMPCA): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs573267388 GRCh37 Chromosome 9, 139310764: 139310764

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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