Spinocerebellar Ataxia, X-Linked 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 1

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

Name: Spinocerebellar Ataxia, X-Linked 1 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Scax1 ⁵⁶ ¹² ⁷³

X-Linked Progressive Cerebellar Ataxia ¹² ⁵⁸

Opcax ⁵⁶ ⁷³

Ataxia, Spinocerebellar, X-Linked Type 1 ³⁹

Olivopontocerebellar Atrophy, X-Linked ⁵⁶

Olivopontocerebellar Atrophy X-Linked ⁷³

X-Linked Spinocerebellar Ataxia 1 ¹²

Opca, X-Linked; Opcax ⁵⁶

Opca, X-Linked ⁵⁶

Opca X-Linked ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0111829

OMIM ⁵⁶ 302500

MeSH ⁴³ D009849

ICD10 via Orphanet ³³ G11.1

Orphanet ⁵⁸ ORPHA1175

MedGen ⁴¹ C0796205

UMLS ⁷¹ C0796205

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Summaries for Spinocerebellar Ataxia, X-Linked 1

UniProtKB/Swiss-Prot : ⁷³ 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 ataxia and polyneuropathy, adult-onset, 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 is Myometrial Relaxation and Contraction Pathways. Affiliated tissues include eye, brain and cerebellum, 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 : ⁵⁶ 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)

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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:

(showing 1, show less)

#	Related Disease	Score	Top Affiliating Genes
1	ataxia and polyneuropathy, adult-onset	10.2

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Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 1

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

⁵⁸ ³¹ (showing 33, show less)

#	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	sensorimotor neuropathy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007141
18	spastic dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002464
19	emg: neuropathic changes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003445
20	distal lower limb amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008944
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	neonatal hypotonia ³¹			HP:0001319
27	ataxia ³¹			HP:0001251
28	strabismus ³¹			HP:0000486
29	hyperreflexia ⁵⁸		Frequent (79-30%)
30	dysarthria ³¹			HP:0001260
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:

⁵⁶

Head And Neck Eyes:
strabismus
slow eye movements

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
intention tremor
action tremor
cerebellar ataxia
more

Clinical features from OMIM:

302500

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

action tremor, cerebellar ataxia

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Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 1

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

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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

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Anatomical Context for Spinocerebellar Ataxia, X-Linked 1

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

⁴⁰

Eye, Brain, Cerebellum, Spinal Cord

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Publications for Spinocerebellar Ataxia, X-Linked 1

Articles related to Spinocerebellar Ataxia, X-Linked 1:

(showing 19, show less)

#	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. ⁵⁶ ⁶	Zanni G...Carafoli E	22912398	2012
2	X-linked congenital ataxia: a clinical and genetic study. ⁵⁶ ⁶	Bertini E...Chelly J	10797423	2000
3	X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. ⁵⁶	Illarioshkin SN...Tsuji S	8687195	1996
4	Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. ⁵⁶	Apak S...Neuhauser G	2816991	1989
5	X-linked olivopontocerebellar atrophy. ⁵⁶	Lutz R...Gay C	2661059	1989
6	Sex-linked recessive congenital ataxia. ⁵⁶	Young ID...Tripp JH	3668574	1987
7	Unusual form of cerebellar ataxia with sex-linked inheritance. ⁵⁶	MALAMUD N...COHEN P	13541590	1958
8	Fractionating of Calcium in Tuber and Leaf Tissues Explains the Calcium Deficiency Symptoms in Potato Plant Overexpressing CAX1. ⁶¹	Gao H...Palta JP	32076426	2019
9	Ectopic expression of a maize calreticulin mitigates calcium deficiency-like disorders in sCAX1-expressing tobacco and tomato. ⁶¹	Wu Q...Park S	23007728	2012
10	The role of CAX1 and CAX3 in elemental distribution and abundance in Arabidopsis seed. ⁶¹	Punshon T...Guerinot ML	22086421	2012
11	Characterization of Arabidopsis Ca2+/H+ exchanger CAX3. ⁶¹	Manohar M...Hirschi KD	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	Tonetto de Freitas S...Mitcham EJ	21464475	2011
13	Functional studies of split Arabidopsis Ca2+/H+ exchangers. ⁶¹	Zhao J...Pittman JK	19819871	2009
14	Sensory analysis of calcium-biofortified lettuce. ⁶¹	Park S...Hirschi KD	19021875	2009
15	Raising the bar for biofortification: enhanced levels of bioavailable calcium in carrots. ⁶¹	Connolly EL	18579243	2008
16	Nutritional impact of elevated calcium transport activity in carrots. ⁶¹	Morris J...Hirschi KD	18202180	2008
17	In planta regulation of the Arabidopsis Ca(2+)/H(+) antiporter CAX1. ⁶¹	Mei H...Hirschi KD	17898422	2007
18	Increased calcium levels and prolonged shelf life in tomatoes expressing Arabidopsis H+/Ca2+ transporters. ⁶¹	Park S...Hirschi KD	16244156	2005
19	Genetic manipulation for enhancing calcium content in potato tuber. ⁶¹	Park S...Hirschi KD	15998121	2005

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Genes for Spinocerebellar Ataxia, X-Linked 1

Genes related to Spinocerebellar Ataxia, X-Linked 1 (2 elite genes):

(showing 2, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	978.4	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Gene name Variants (show sections)
2	GJB1	Gap Junction Protein Beta 1	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Spinocerebellar Ataxia, X-Linked 1

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

⁶ (showing 10, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP2B3	NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp)	SNV	Likely pathogenic	39839	rs397514619	X:152830539-152830539	X:153565081-153565081
2	ATP2B3	NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile)	SNV	Uncertain significance	560961	rs1569535623	X:152830532-152830532	X:153565074-153565074
3	ATP2B3	NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln)	SNV	Uncertain significance	638365		X:152830503-152830503	X:153565045-153565045
4	ATP2B3	NM_001001344.2(ATP2B3):c.790+17G>C	SNV	Benign	518408	rs2980013	X:152807923-152807923	X:153542465-153542465
5	ATP2B3	NM_001001344.2(ATP2B3):c.1473A>G (p.Gly491=)	SNV	Benign	518409	rs3020949	X:152815089-152815089	X:153549631-153549631
6	ATP2B3	NM_001001344.2(ATP2B3):c.2326+11C>T	SNV	Benign	518410	rs3020957	X:152821887-152821887	X:153556429-153556429
7	ATP2B3	NM_001001344.2(ATP2B3):c.2592G>C (p.Val864=)	SNV	Benign	518411	rs2269415	X:152823728-152823728	X:153558270-153558270
8	ATP2B3	NM_001001344.2(ATP2B3):c.2839+14G>T	SNV	Benign	518412	rs3020959	X:152825414-152825414	X:153559956-153559956
9	ATP2B3	NM_001001344.2(ATP2B3):c.3052-5C>T	SNV	Benign	518413	rs189012896	X:152827588-152827588	X:153562130-153562130
10	ATP2B3	NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val)	SNV	Benign	518414	rs149428057	X:152845611-152845611	X:153580153-153580153

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

⁷³ (showing 1, show less)

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

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Expression for Spinocerebellar Ataxia, X-Linked 1

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

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Pathways for Spinocerebellar Ataxia, X-Linked 1

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

(showing 1, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.11	GJB1 ATP2B3

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GO Terms for Spinocerebellar Ataxia, X-Linked 1

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Sources for Spinocerebellar Ataxia, X-Linked 1

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinocerebellar Ataxia, X-Linked 1 (SCAX1)

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 1

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, X-Linked 1

Related Diseases for Spinocerebellar Ataxia, X-Linked 1

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

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

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 1

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 1

Genetic Tests for Spinocerebellar Ataxia, X-Linked 1

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

Anatomical Context for Spinocerebellar Ataxia, X-Linked 1

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

Publications for Spinocerebellar Ataxia, X-Linked 1

Articles related to Spinocerebellar Ataxia, X-Linked 1:

Genes for Spinocerebellar Ataxia, X-Linked 1

Genes related to Spinocerebellar Ataxia, X-Linked 1 (2 elite genes):

Variations for Spinocerebellar Ataxia, X-Linked 1

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

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

Expression 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:

GO Terms for Spinocerebellar Ataxia, X-Linked 1

Sources for Spinocerebellar Ataxia, X-Linked 1