MCID: SPN200
MIFTS: 31

Spinocerebellar Ataxia, Autosomal Recessive 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Skin diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver 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 53 29 13 6 73
Scar2 57 53 59 75
Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital 57 53 75
Cpd3 57 53 75
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 53 59
Cerebellar Hypoplasia, Nonprogressive Norman Type 57 53
Cerebelloparenchymal Disorder Iii 57 75
Cpd Iii 57 75
Cerebellar Hypoplasia, Non-Progressive Norman Type 75
Autosomal Recessive Spinocerebellar Ataxia Type 2 59
Spinocerebellar Ataxia, Autosomal Recessive, 2 75
Autosomal Recessive Spinocerebellar Ataxia 2 12
Cerebelloparenchymal Disorder Iii; Cpd3 57
Cerebelloparenchymal Disorder 3 53
Cpdiii 53

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebelloparenchymal disorder type 3
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
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:

32
spinocerebellar ataxia, autosomal recessive 2:
Onset and clinical course infantile onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 2

NIH Rare Diseases : 53 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 muscle spasticity, tremor and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 2 is PMPCA (Peptidase, Mitochondrial Processing Alpha Subunit). Affiliated tissues include cerebellum, spinal cord and brain, and related phenotypes are cataract and nystagmus

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)

UniProtKB/Swiss-Prot : 75 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, 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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 2:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
2 nystagmus 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000639
3 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
9 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
10 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
11 generalized hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007513
12 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
13 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
14 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
15 saccadic smooth pursuit 32 HP:0001152
16 spasticity 32 HP:0001257
17 dysarthria 32 HP:0001260
18 global developmental delay 32 HP:0001263
19 hyporeflexia 32 occasional (7.5%) HP:0001265
20 generalized hypotonia 32 HP:0001290
21 dysmetria 32 HP:0001310
22 cerebellar hypoplasia 32 HP:0001321
23 tremor 32 HP:0001337
24 hyperreflexia 32 HP:0001347
25 pes cavus 32 occasional (7.5%) HP:0001761
26 gait ataxia 32 HP:0002066
27 limb ataxia 32 HP:0002070
28 incoordination 32 HP:0002311
29 unsteady gait 32 HP:0002317
30 short stature 32 occasional (7.5%) HP:0004322

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 2:


muscle spasticity, tremor, gait ataxia

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 29 PMPCA

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 2

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

41
Cerebellum, Spinal Cord, Brain, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 2

Variations for Spinocerebellar Ataxia, Autosomal Recessive 2

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

75
# 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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74 UMLS via Orphanet
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