MCID: SPN202
MIFTS: 28

Spinocerebellar Ataxia, X-Linked 1

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Ear diseases, Mental diseases

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 1

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 1:

Name: Spinocerebellar Ataxia, X-Linked 1 57 75 29 13 6 73
Scax1 57 75
Opcax 57 75
Ataxia, Spinocerebellar, X-Linked Type 1 40
Olivopontocerebellar Atrophy, X-Linked 57
X-Linked Progressive Cerebellar Ataxia 59
Olivopontocerebellar Atrophy X-Linked 75
Opca, X-Linked; Opcax 57
Opca, X-Linked 57
Opca X-Linked 75

Characteristics:

Orphanet epidemiological data:

59
x-linked progressive cerebellar ataxia
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

57
Miscellaneous:
onset at birth
nonprogressive disorder
one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)

Inheritance:
x-linked recessive


HPO:

32
spinocerebellar ataxia, x-linked 1:
Onset and clinical course congenital onset nonprogressive juvenile onset
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, X-Linked 1

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, X-linked 1: 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. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 1, also known as scax1, is related to olivopontocerebellar atrophy, and has symptoms including cerebellar ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, X-Linked 1 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3), and among its related pathways/superpathways is Myometrial Relaxation and Contraction Pathways. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are progressive cerebellar ataxia and nystagmus

OMIM : 57 SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). (302500)

Related Diseases for Spinocerebellar Ataxia, X-Linked 1

Diseases in the Spinocerebellar Ataxia, X-Linked 1 family:

Spinocerebellar Ataxia, X-Linked 5 Spinocerebellar Ataxia, X-Linked 3
Spinocerebellar Ataxia, X-Linked 4 Spinocerebellar Ataxia, X-Linked 2

Diseases related to Spinocerebellar Ataxia, X-Linked 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 10.0

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
intention tremor
action tremor
cerebellar atrophy
delayed motor development
more
Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Eyes:
strabismus
slow eye movements


Clinical features from OMIM:

302500

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 1:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
4 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
5 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
6 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
7 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
8 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
9 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
10 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
11 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
12 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
13 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
14 spinocerebellar tract degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0002503
15 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
16 axonal loss 59 32 frequent (33%) Frequent (79-30%) HP:0003447
17 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
18 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
19 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
20 distal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008944
21 decreased/absent ankle reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0200101
22 lower limb hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002395
23 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
24 foot dorsiflexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009027
25 hyperreflexia 59 Frequent (79-30%)
26 emg: neuropathic changes 59 Frequent (79-30%)
27 strabismus 32 HP:0000486
28 slow saccadic eye movements 32 HP:0000514
29 ataxia 32 HP:0001251
30 dysarthria 32 HP:0001260
31 cerebellar atrophy 32 HP:0001272
32 neonatal hypotonia 32 HP:0001319
33 emg 32 frequent (33%) HP:0003445

UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 1:


cerebellar ataxia, action tremor

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 1

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 1

Genetic Tests for Spinocerebellar Ataxia, X-Linked 1

Genetic tests related to Spinocerebellar Ataxia, X-Linked 1:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, X-Linked 1 29 ATP2B3

Anatomical Context for Spinocerebellar Ataxia, X-Linked 1

MalaCards organs/tissues related to Spinocerebellar Ataxia, X-Linked 1:

41
Eye, Brain, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, X-Linked 1

Variations for Spinocerebellar Ataxia, X-Linked 1

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, X-Linked 1:

75
# Symbol AA change Variation ID SNP ID
1 ATP2B3 p.Gly1107Asp VAR_069308 rs397514619

ClinVar genetic disease variations for Spinocerebellar Ataxia, X-Linked 1:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2B3 NM_001001344.2(ATP2B3): c.3320G> A (p.Gly1107Asp) single nucleotide variant Likely pathogenic rs397514619 GRCh37 Chromosome X, 152830539: 152830539
2 ATP2B3 NM_001001344.2(ATP2B3): c.3320G> A (p.Gly1107Asp) single nucleotide variant Likely pathogenic rs397514619 GRCh38 Chromosome X, 153565081: 153565081
3 ATP2B3 NM_021949.3(ATP2B3): c.790+17G> C single nucleotide variant Benign rs2980013 GRCh37 Chromosome X, 152807923: 152807923
4 ATP2B3 NM_021949.3(ATP2B3): c.790+17G> C single nucleotide variant Benign rs2980013 GRCh38 Chromosome X, 153542465: 153542465
5 ATP2B3 NM_021949.3(ATP2B3): c.1473A> G (p.Gly491=) single nucleotide variant Benign rs3020949 GRCh37 Chromosome X, 152815089: 152815089
6 ATP2B3 NM_021949.3(ATP2B3): c.1473A> G (p.Gly491=) single nucleotide variant Benign rs3020949 GRCh38 Chromosome X, 153549631: 153549631
7 ATP2B3 NM_021949.3(ATP2B3): c.2326+11C> T single nucleotide variant Benign rs3020957 GRCh37 Chromosome X, 152821887: 152821887
8 ATP2B3 NM_021949.3(ATP2B3): c.2326+11C> T single nucleotide variant Benign rs3020957 GRCh38 Chromosome X, 153556429: 153556429
9 ATP2B3 NM_021949.3(ATP2B3): c.2592G> C (p.Val864=) single nucleotide variant Benign rs2269415 GRCh38 Chromosome X, 153558270: 153558270
10 ATP2B3 NM_021949.3(ATP2B3): c.2592G> C (p.Val864=) single nucleotide variant Benign rs2269415 GRCh37 Chromosome X, 152823728: 152823728
11 ATP2B3 NM_021949.3(ATP2B3): c.2839+14G> T single nucleotide variant Benign rs3020959 GRCh38 Chromosome X, 153559956: 153559956
12 ATP2B3 NM_021949.3(ATP2B3): c.2839+14G> T single nucleotide variant Benign rs3020959 GRCh37 Chromosome X, 152825414: 152825414
13 ATP2B3 NM_021949.3(ATP2B3): c.3052-5C> T single nucleotide variant Benign rs189012896 GRCh37 Chromosome X, 152827588: 152827588
14 ATP2B3 NM_021949.3(ATP2B3): c.3052-5C> T single nucleotide variant Benign rs189012896 GRCh38 Chromosome X, 153562130: 153562130
15 ATP2B3 NM_001001344.2(ATP2B3): c.3518C> T (p.Ala1173Val) single nucleotide variant Likely benign rs149428057 GRCh38 Chromosome X, 153580153: 153580153
16 ATP2B3 NM_001001344.2(ATP2B3): c.3518C> T (p.Ala1173Val) single nucleotide variant Likely benign rs149428057 GRCh37 Chromosome X, 152845611: 152845611

Expression for Spinocerebellar Ataxia, X-Linked 1

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 1.

Pathways for Spinocerebellar Ataxia, X-Linked 1

Pathways related to Spinocerebellar Ataxia, X-Linked 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 ATP2B3 GJB1

GO Terms for Spinocerebellar Ataxia, X-Linked 1

Sources for Spinocerebellar Ataxia, X-Linked 1

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
Content
Loading form....