SCA43
MCID: SPN372
MIFTS: 26

Spinocerebellar Ataxia 43 (SCA43)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

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:



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.

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 Top Affiliating Genes
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:



Diseases related to Spinocerebellar Ataxia 43

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)

Drugs & Therapeutics for Spinocerebellar Ataxia 43

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 43

Genetic Tests for Spinocerebellar Ataxia 43

Genetic tests related to Spinocerebellar Ataxia 43:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 43 29 MME

Anatomical Context for Spinocerebellar Ataxia 43

MalaCards organs/tissues related to Spinocerebellar Ataxia 43:

40
Eye, Cerebellum, Spinal Cord

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
27583304 2016

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

Expression for Spinocerebellar Ataxia 43

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

Pathways for Spinocerebellar Ataxia 43

GO Terms for Spinocerebellar Ataxia 43

Sources for Spinocerebellar Ataxia 43

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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