Spinocerebellar Ataxia, X-Linked 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 5

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 5:

Name: Spinocerebellar Ataxia, X-Linked 5 ⁵⁷ ¹³ ⁷⁰

X-Linked Non Progressive Cerebellar Ataxia ¹² ⁵⁸

X-Linked Spinocerebellar Ataxia 5 ¹² ¹⁵

Scax5 ⁵⁷ ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

x-linked non progressive cerebellar ataxia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Miscellaneous:
onset in infancy
nonprogressive disorder
symptoms tend to improve with age
patients achieve ambulation

Inheritance:
x-linked recessive

HPO:

³¹

spinocerebellar ataxia, x-linked 5:
Onset and clinical course infantile onset nonprogressive
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Genetic 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

Congenital nonprogressive ataxia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0111833

OMIM® ⁵⁷ 300703

SNOMED-CT ⁶⁷ 766818009

ICD10 via Orphanet ³³ G11.0

Orphanet ⁵⁸ ORPHA314978

MedGen ⁴¹ C2678048

SNOMED-CT via HPO ⁶⁸ 128602000 16026008 205294008 more

UMLS ⁷⁰ C2678048

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Summaries for Spinocerebellar Ataxia, X-Linked 5

Disease Ontology : ¹² An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has material basis in hemizygous mutation in region of chromosome Xq25-q27.1.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 5, also known as x-linked non progressive cerebellar ataxia, is related to spinocerebellar ataxia, x-linked 2 and spinocerebellar ataxia 27, and has symptoms including ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, X-Linked 5 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3), and among its related pathways/superpathways are CREB Pathway and Cardiac conduction. Related phenotypes are nonprogressive cerebellar ataxia and strabismus

More information from OMIM: 300703

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Related Diseases for Spinocerebellar Ataxia, X-Linked 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia, x-linked 2	10.1	TK2 ATP2B3
2	spinocerebellar ataxia 27	9.9	FGF14 FGF11
3	x-linked cerebellar ataxia	9.9	FGF17 FGF14 ATP2B3
4	cerebellar ataxia type 9	9.8	PLEKHG4 FGF14
5	spastic paraplegia 25, autosomal recessive	9.8	PLEKHG4 FGF14
6	spastic paraplegia 34, x-linked	9.8	PLEKHG4 FGF14
7	spinocerebellar ataxia 31	9.7	TK2 PLEKHG4
8	spinocerebellar ataxia 21	9.7	PLEKHG4 FGF14
9	lacrimoauriculodentodigital syndrome	9.7	FGF17 FGF11
10	spinocerebellar ataxia 30	9.6	TK2 PLEKHG4 FGF14
11	dentatorubral-pallidoluysian atrophy	9.6	TK2 PLEKHG4 FGF14
12	hereditary ataxia	9.6	PLEKHG4 FGF14 ATP2B3
13	autosomal dominant cerebellar ataxia	9.4	TK2 PLEKHG4 FGF14
14	spinocerebellar ataxia, x-linked 4	9.4	TK2 SLC9A3R2 PLEKHG4 ATP2B3
15	spinocerebellar ataxia, x-linked 3	9.4	TK2 SLC9A3R2 PLEKHG4 ATP2B3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 5:

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Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 5

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 5:

⁵⁸ ³¹ (show all 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nonprogressive cerebellar ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002470
2	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
3	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
4	cerebellar hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001321
5	clumsiness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002312
6	cerebellar vermis hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001320
7	generalized neonatal hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008935
8	unsteady gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002317
9	frequent falls ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002359
10	intention tremor ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002080
11	saccadic smooth pursuit ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001152
12	truncal ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002078
13	spastic dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002464
14	action tremor ⁵⁸ ³¹		Frequent (79-30%)	HP:0002345
15	intellectual disability ⁵⁸		Excluded (0%)
16	nystagmus ³¹			HP:0000639
17	ataxia ³¹			HP:0001251
18	dysarthria ³¹			HP:0001260
19	neonatal hypotonia ³¹			HP:0001319
20	babinski sign ⁵⁸		Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
ataxia
dysarthria
action tremor
delayed motor development
normal intelligence
more

Clinical features from OMIM®:

300703 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 5:

ataxia; action tremor

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Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 5

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 5

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Genetic Tests for Spinocerebellar Ataxia, X-Linked 5

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Anatomical Context for Spinocerebellar Ataxia, X-Linked 5

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Publications for Spinocerebellar Ataxia, X-Linked 5

Articles related to Spinocerebellar Ataxia, X-Linked 5:

#	Title	Authors	PMID	Year
1	X-linked congenital ataxia: a new locus maps to Xq25-q27.1. ⁵⁷	Zanni G...Chelly J	18241076	2008
2	X-linked congenital ataxia: a clinical and genetic study. ⁵⁷	Bertini E...Chelly J	10797423	2000
3	X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. ⁵⁷	Illarioshkin SN...Tsuji S	8687195	1996

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Genes for Spinocerebellar Ataxia, X-Linked 5

Genes related to Spinocerebellar Ataxia, X-Linked 5 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	356.2	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
2	SCAX5	Spinocerebellar Ataxia, X-Linked 5	Genetic Locus	58.69	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
3	FGF14	Fibroblast Growth Factor 14	Protein Coding	6.31	DISEASES inferred ¹⁵
4	FGF17	Fibroblast Growth Factor 17	Protein Coding	6.24	DISEASES inferred ¹⁵
5	TK2	Thymidine Kinase 2	Protein Coding	5.82	DISEASES inferred ¹⁵
6	FGF11	Fibroblast Growth Factor 11	Protein Coding	5.34	DISEASES inferred ¹⁵
7	MAPK8IP2	Mitogen-Activated Protein Kinase 8 Interacting Protein 2	Protein Coding	5.34	DISEASES inferred ¹⁵
8	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	5.32	DISEASES inferred ¹⁵
9	SLC9A3R2	SLC9A3 Regulator 2	Protein Coding	5.08	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia, X-Linked 5

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Expression for Spinocerebellar Ataxia, X-Linked 5

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 5.

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Pathways for Spinocerebellar Ataxia, X-Linked 5

Pathways related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	CREB Pathway ⁶³ Show member pathways Activation of PKC through GPCR ⁶³ Intracellular Calcium Signaling ⁶³ IP3 Pathway ⁶³	12.82	FGF17 FGF14 FGF11 ATP2B3
2	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.38	FGF14 FGF11 ATP2B3
3	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.2	FGF17 FGF14 FGF11
4	Regulation of actin cytoskeleton ¹ ³⁶	12.07	FGF17 FGF14 FGF11
5	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.93	FGF17 FGF14 FGF11
6	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	11.64	FGF17 FGF14 FGF11
7	RhoGDI Pathway ⁶³ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶³	11.51	FGF17 FGF14 FGF11
8	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.24	FGF14 FGF11
9	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶³	11.21	FGF17 FGF14 FGF11
10	G-protein signaling_RhoA regulation pathway ²³	11.02	FGF17 FGF14 FGF11

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GO Terms for Spinocerebellar Ataxia, X-Linked 5

Biological processes related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nervous system development	GO:0007399	9.43	FGF17 FGF14 FGF11
2	JNK cascade	GO:0007254	9.16	MAPK8IP2 FGF14
3	cell-cell signaling	GO:0007267	9.13	FGF17 FGF14 FGF11
4	regulation of voltage-gated sodium channel activity	GO:1905150	8.62	FGF14 FGF11

Molecular functions related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sodium channel regulator activity	GO:0017080	8.96	FGF14 FGF11
2	growth factor activity	GO:0008083	8.8	FGF17 FGF14 FGF11

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Sources for Spinocerebellar Ataxia, X-Linked 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spinocerebellar Ataxia, X-Linked 5 (SCAX5)

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 5

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 5:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, X-Linked 5

Related Diseases for Spinocerebellar Ataxia, X-Linked 5

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

Diseases related to Spinocerebellar Ataxia, X-Linked 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 5:

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 5

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 5:

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 5

Genetic Tests for Spinocerebellar Ataxia, X-Linked 5

Anatomical Context for Spinocerebellar Ataxia, X-Linked 5

Publications for Spinocerebellar Ataxia, X-Linked 5

Articles related to Spinocerebellar Ataxia, X-Linked 5:

Genes for Spinocerebellar Ataxia, X-Linked 5

Genes related to Spinocerebellar Ataxia, X-Linked 5 (2 elite genes):

Variations for Spinocerebellar Ataxia, X-Linked 5

Expression for Spinocerebellar Ataxia, X-Linked 5

Pathways for Spinocerebellar Ataxia, X-Linked 5

Pathways related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

GO Terms for Spinocerebellar Ataxia, X-Linked 5

Biological processes related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

Molecular functions related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

Sources for Spinocerebellar Ataxia, X-Linked 5