SCAX1
MCID: SPN202
MIFTS: 41

Spinocerebellar Ataxia, X-Linked 1 (SCAX1)

Categories: Ear diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 72 29 13 6 70
Scax1 57 12 72
X-Linked Progressive Cerebellar Ataxia 12 58
X-Linked Spinocerebellar Ataxia 1 12 15
Opcax 57 72
Ataxia, Spinocerebellar, X-Linked Type 1 39
Olivopontocerebellar Atrophy, X-Linked 57
Olivopontocerebellar Atrophy X-Linked 72
Opca, X-Linked; Opcax 57
Opca, X-Linked 57
Opca X-Linked 72

Characteristics:

Orphanet epidemiological data:

58
x-linked progressive cerebellar ataxia
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
spinocerebellar ataxia, x-linked 1:
Inheritance x-linked inheritance x-linked recessive inheritance
Onset and clinical course juvenile onset congenital onset nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, X-Linked 1

UniProtKB/Swiss-Prot : 72 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 spinocerebellar ataxia, x-linked 2 and spinocerebellar ataxia, x-linked 4, and has symptoms including action tremor and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, X-Linked 1 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and cGMP-PKG signaling pathway. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and scoliosis

Disease Ontology : 12 An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has material basis in hemizygous mutation in ATP2B3 on chromosome Xq28.

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) (Updated 05-Apr-2021)

Related Diseases for Spinocerebellar Ataxia, X-Linked 1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 1:



Diseases related to Spinocerebellar Ataxia, X-Linked 1

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 1

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

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
6 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
7 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
8 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
9 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
10 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
11 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
12 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
13 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
14 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
15 spinocerebellar tract degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0002503
16 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
17 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
18 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
19 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
20 emg: neuropathic changes 58 31 frequent (33%) Frequent (79-30%) HP:0003445
21 axonal loss 58 31 frequent (33%) Frequent (79-30%) HP:0003447
22 decreased/absent ankle reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0200101
23 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
24 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
25 lower limb hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002395
26 hyperreflexia 58 Frequent (79-30%)
27 ataxia 31 HP:0001251
28 dysarthria 31 HP:0001260
29 neonatal hypotonia 31 HP:0001319
30 strabismus 31 HP:0000486
31 cerebellar atrophy 31 HP:0001272
32 slow saccadic eye movements 31 HP:0000514
33 difficulty standing 31 HP:0003698

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
intention tremor
action tremor
cerebellar ataxia
more
Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Eyes:
strabismus
slow eye movements

Clinical features from OMIM®:

302500 (Updated 05-Apr-2021)

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


action tremor; cerebellar ataxia

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:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, X-Linked 1

Articles related to Spinocerebellar Ataxia, X-Linked 1:

(show all 19)
# Title Authors PMID Year
1
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. 57 6
22912398 2012
2
X-linked congenital ataxia: a clinical and genetic study. 6 57
10797423 2000
3
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. 57
8687195 1996
4
Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. 57
2816991 1989
5
X-linked olivopontocerebellar atrophy. 57
2661059 1989
6
Sex-linked recessive congenital ataxia. 57
3668574 1987
7
Unusual form of cerebellar ataxia with sex-linked inheritance. 57
13541590 1958
8
Fractionating of Calcium in Tuber and Leaf Tissues Explains the Calcium Deficiency Symptoms in Potato Plant Overexpressing CAX1. 61
32076426 2019
9
Ectopic expression of a maize calreticulin mitigates calcium deficiency-like disorders in sCAX1-expressing tobacco and tomato. 61
23007728 2012
10
The role of CAX1 and CAX3 in elemental distribution and abundance in Arabidopsis seed. 61
22086421 2012
11
Characterization of Arabidopsis Ca2+/H+ exchanger CAX3. 61
21657244 2011
12
Dynamic alternations in cellular and molecular components during blossom-end rot development in tomatoes expressing sCAX1, a constitutively active Ca2+/H+ antiporter from Arabidopsis. 61
21464475 2011
13
Functional studies of split Arabidopsis Ca2+/H+ exchangers. 61
19819871 2009
14
Sensory analysis of calcium-biofortified lettuce. 61
19021875 2009
15
Raising the bar for biofortification: enhanced levels of bioavailable calcium in carrots. 61
18579243 2008
16
Nutritional impact of elevated calcium transport activity in carrots. 61
18202180 2008
17
In planta regulation of the Arabidopsis Ca(2+)/H(+) antiporter CAX1. 61
17898422 2007
18
Increased calcium levels and prolonged shelf life in tomatoes expressing Arabidopsis H+/Ca2+ transporters. 61
16244156 2005
19
Genetic manipulation for enhancing calcium content in potato tuber. 61
15998121 2005

Variations for Spinocerebellar Ataxia, X-Linked 1

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP2B3 NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) SNV Pathogenic 39839 rs397514619 GRCh37: X:152830539-152830539
GRCh38: X:153565081-153565081
2 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Likely pathogenic 242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
3 ATP2B3 NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) SNV Uncertain significance 1033156 GRCh37: X:152821606-152821606
GRCh38: X:153556148-153556148
4 ATP2B3 NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) SNV Uncertain significance 1048094 GRCh37: X:152821534-152821534
GRCh38: X:153556076-153556076
5 ATP2B3 NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln) SNV Uncertain significance 638365 rs782067205 GRCh37: X:152830503-152830503
GRCh38: X:153565045-153565045
6 ATP2B3 NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) SNV Uncertain significance 560961 rs1569535623 GRCh37: X:152830532-152830532
GRCh38: X:153565074-153565074
7 ATP2B3 NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) SNV Uncertain significance 1028404 GRCh37: X:152818645-152818645
GRCh38: X:153553187-153553187
8 ATP2B3 NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) SNV Uncertain significance 1028405 GRCh37: X:152830535-152830535
GRCh38: X:153565077-153565077
9 ATP2B3 NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) SNV Likely benign 518414 rs149428057 GRCh37: X:152845611-152845611
GRCh38: X:153580153-153580153
10 ATP2B3 NM_021949.3(ATP2B3):c.790+17G>C SNV Benign 518408 rs2980013 GRCh37: X:152807923-152807923
GRCh38: X:153542465-153542465
11 ATP2B3 NM_021949.3(ATP2B3):c.2592G>C (p.Val864=) SNV Benign 518411 rs2269415 GRCh37: X:152823728-152823728
GRCh38: X:153558270-153558270
12 ATP2B3 NM_021949.3(ATP2B3):c.1473A>G (p.Gly491=) SNV Benign 518409 rs3020949 GRCh37: X:152815089-152815089
GRCh38: X:153549631-153549631
13 ATP2B3 NM_021949.3(ATP2B3):c.2839+14G>T SNV Benign 518412 rs3020959 GRCh37: X:152825414-152825414
GRCh38: X:153559956-153559956
14 ATP2B3 NM_021949.3(ATP2B3):c.2326+11C>T SNV Benign 518410 rs3020957 GRCh37: X:152821887-152821887
GRCh38: X:153556429-153556429
15 ATP2B3 NM_021949.3(ATP2B3):c.3052-5C>T SNV Benign 518413 rs189012896 GRCh37: X:152827588-152827588
GRCh38: X:153562130-153562130

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

72
# Symbol AA change Variation ID SNP ID
1 ATP2B3 p.Gly1107Asp VAR_069308 rs397514619

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
12.78 ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A1
2
Show member pathways
12.11 PPP3R1 ATP2B3 ATP2B1
3
Show member pathways
12.08 ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A1
4
Show member pathways
12.03 GJB1 ATP2B3 ATP2B1
5 11.71 PPP3R1 ATP2B3 ATP2B1
6
Show member pathways
11.52 ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A1
7 11.17 ATP2B3 ATP2B1
8 11.05 ATP2B3 ATP2B1

GO Terms for Spinocerebellar Ataxia, X-Linked 1

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.65 SCAI PPP3R1 PAICS GJB1 ATP2B3 ATP2B1
2 GABA-ergic synapse GO:0098982 9.16 ATP2B3 ATP2B1
3 lateral plasma membrane GO:0016328 8.62 GJB1 ATP2B1

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.55 ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A1
2 regulation of cardiac conduction GO:1903779 9.4 ATP2B3 ATP2B1
3 regulation of cytosolic calcium ion concentration GO:0051480 9.37 ATP2B3 ATP2B1
4 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.32 ATP2B3 ATP2B1
5 calcium ion export across plasma membrane GO:1990034 9.26 ATP2B3 ATP2B1
6 cation transport GO:0006812 9.26 ATP13A5 ATP13A4 ATP13A3 ATP13A1
7 cellular calcium ion homeostasis GO:0006874 9.1 ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A3 ATP13A1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 PAICS ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A3
2 ATP binding GO:0005524 9.7 PAICS ATP2B3 ATP2B1 ATP13A5 ATP13A4 ATP13A3
3 calmodulin binding GO:0005516 9.61 PPP3R1 ATP2B3 ATP2B1
4 cation-transporting ATPase activity GO:0019829 9.4 ATP2B3 ATP2B1
5 calcium-transporting ATPase activity GO:0005388 9.37 ATP2B3 ATP2B1
6 calcium ion transmembrane transporter activity GO:0015085 9.32 ATP2B3 ATP2B1
7 ATPase activity GO:0016887 9.02 ATP2B1 ATP13A5 ATP13A4 ATP13A3 ATP13A1
8 calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration GO:1905056 8.96 ATP2B3 ATP2B1

Sources for Spinocerebellar Ataxia, X-Linked 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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