Spinocerebellar Ataxia 43 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia 43

MalaCards integrated aliases for Spinocerebellar Ataxia 43:

Name: Spinocerebellar Ataxia 43 ⁵⁷ ⁷² ²⁹ ⁶

Sca43 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (range 42 to 68 years)
one belgian family has been reported (last curated july 2016)

HPO:

³¹

spinocerebellar ataxia 43:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617018

OMIM Phenotypic Series ⁵⁷ PS164400

MeSH ⁴⁴ D020754

MedGen ⁴¹ C4310763 CN238088

SNOMED-CT via HPO ⁶⁸ 16046003 205091006 205101001 more

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Summaries for Spinocerebellar Ataxia 43

OMIM® : ⁵⁷ Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (617018) (Updated 05-Apr-2021)

MalaCards based summary : Spinocerebellar Ataxia 43, also known as sca43, is related to cerebellar ataxia type 43 and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Spinocerebellar Ataxia 43 is MME (Membrane Metalloendopeptidase). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are nystagmus and rigidity

UniProtKB/Swiss-Prot : ⁷² Spinocerebellar ataxia 43: A form of spinocerebellar ataxia, 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. SCA43 is a slowly progressive, autosomal dominant form.

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Related Diseases for Spinocerebellar Ataxia 43

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 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 48	Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28	Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia	Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 43 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	cerebellar ataxia type 43	11.0
2	charcot-marie-tooth disease, axonal, type 2t	11.0
3	ataxia and polyneuropathy, adult-onset	9.9
4	polyneuropathy	9.9
5	autosomal dominant cerebellar ataxia	9.9
6	neuropathy	9.9

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 43:

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Symptoms & Phenotypes for Spinocerebellar Ataxia 43

Human phenotypes related to Spinocerebellar Ataxia 43:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	occasional (7.5%)	HP:0000639
2	rigidity ³¹	occasional (7.5%)	HP:0002063
3	distal sensory impairment ³¹	occasional (7.5%)	HP:0002936
4	hypometric saccades ³¹	occasional (7.5%)	HP:0000571
5	dysarthria ³¹		HP:0001260
6	tremor ³¹		HP:0001337
7	pectus carinatum ³¹		HP:0000768
8	pes cavus ³¹		HP:0001761
9	hyporeflexia ³¹		HP:0001265
10	gait ataxia ³¹		HP:0002066
11	cerebellar atrophy ³¹		HP:0001272
12	distal amyotrophy ³¹		HP:0003693
13	limb ataxia ³¹		HP:0002070
14	limb pain ³¹		HP:0009763

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
dysarthria
tremor
gait ataxia
cerebellar atrophy
limb ataxia
more

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
distal amyotrophy

Chest External Features:
pectus carinatum

Neurologic Peripheral Nervous System:
hyporeflexia
axonal motor neuropathy
distal sensory impairment (in some patients)
distal limb pain

Head And Neck Eyes:
nystagmus (in some patients)
hypometric saccades (in some patients)

Clinical features from OMIM®:

617018 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Spinocerebellar Ataxia 43

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 43

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Genetic Tests for Spinocerebellar Ataxia 43

Genetic tests related to Spinocerebellar Ataxia 43:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 43 ²⁹	MME

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Anatomical Context for Spinocerebellar Ataxia 43

MalaCards organs/tissues related to Spinocerebellar Ataxia 43:

⁴⁰

Eye, Cerebellum, Spinal Cord

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Publications for Spinocerebellar Ataxia 43

Articles related to Spinocerebellar Ataxia 43:

#	Title	Authors	PMID	Year
1	MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). ⁶¹ ⁶ ⁵⁷	Depondt C...Pandolfo M	27583304	2016

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Genes for Spinocerebellar Ataxia 43

Genes related to Spinocerebellar Ataxia 43 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MME	Membrane Metalloendopeptidase	Protein Coding	1367.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	27583304

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Variations for Spinocerebellar Ataxia 43

ClinVar genetic disease variations for Spinocerebellar Ataxia 43:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MME	NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	SNV	Pathogenic	504903	rs149905705	GRCh37: 3:154862172-154862172 GRCh38: 3:155144383-155144383
2	MME	NM_000902.4(MME):c.467del (p.Pro156fs)	Deletion	Pathogenic	426945	rs749320057	GRCh37: 3:154834479-154834479 GRCh38: 3:155116690-155116690
3	MME	NM_000902.4(MME):c.428G>A (p.Cys143Tyr)	SNV	Pathogenic	253194	rs879255651	GRCh37: 3:154834337-154834337 GRCh38: 3:155116548-155116548
4	MME	NM_007289.4(MME):c.594dup (p.Val199fs)	Duplication	Pathogenic	930821		GRCh37: 3:154834709-154834710 GRCh38: 3:155116920-155116921
5	MME	NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	SNV	Uncertain significance	931880		GRCh37: 3:154884765-154884765 GRCh38: 3:155166976-155166976
6	MME	NM_000902.4(MME):c.1946T>G (p.Ile649Ser)	SNV	Uncertain significance	546951	rs184666602	GRCh37: 3:154886552-154886552 GRCh38: 3:155168763-155168763
7	MME	NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	SNV	Uncertain significance	809558	rs138218277	GRCh37: 3:154859862-154859862 GRCh38: 3:155142073-155142073
8	MME	NM_007289.4(MME):c.1706A>C (p.Gln569Pro)	SNV	Uncertain significance	809560	rs1326179984	GRCh37: 3:154884736-154884736 GRCh38: 3:155166947-155166947

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 43:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	MME	p.Cys143Tyr	VAR_077685	rs879255651

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Expression for Spinocerebellar Ataxia 43

Search GEO for disease gene expression data for Spinocerebellar Ataxia 43.

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Pathways for Spinocerebellar Ataxia 43

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GO Terms for Spinocerebellar Ataxia 43

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Sources for Spinocerebellar Ataxia 43

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

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¹⁶ DrugBank

¹⁷ EFO

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

²⁹ GTR

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 43 (SCA43)

Aliases & Classifications for Spinocerebellar Ataxia 43

MalaCards integrated aliases for Spinocerebellar Ataxia 43:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia 43

Related Diseases for Spinocerebellar Ataxia 43

Diseases in the Spinocerebellar Ataxia 2 family:

Diseases related to Spinocerebellar Ataxia 43 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 43:

Symptoms & Phenotypes for Spinocerebellar Ataxia 43

Human phenotypes related to Spinocerebellar Ataxia 43:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spinocerebellar Ataxia 43

Genetic Tests for Spinocerebellar Ataxia 43

Genetic tests related to Spinocerebellar Ataxia 43:

Anatomical Context for Spinocerebellar Ataxia 43

MalaCards organs/tissues related to Spinocerebellar Ataxia 43:

Publications for Spinocerebellar Ataxia 43

Articles related to Spinocerebellar Ataxia 43:

Genes for Spinocerebellar Ataxia 43

Genes related to Spinocerebellar Ataxia 43 (1 elite genes):

Variations for Spinocerebellar Ataxia 43

ClinVar genetic disease variations for Spinocerebellar Ataxia 43:

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 43:

Expression for Spinocerebellar Ataxia 43

Pathways for Spinocerebellar Ataxia 43

GO Terms for Spinocerebellar Ataxia 43

Sources for Spinocerebellar Ataxia 43