MCID: SPN372
MIFTS: 26

Spinocerebellar Ataxia 43

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

Aliases & Classifications for Spinocerebellar Ataxia 43

MalaCards integrated aliases for Spinocerebellar Ataxia 43:

Name: Spinocerebellar Ataxia 43 57 75 29 6
Sca43 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 43:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


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)

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

UniProtKB/Swiss-Prot : 75 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, Autosomal Recessive 1
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 Type 16
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 charcot-marie-tooth disease, axonal, type 2t 10.9
2 autosomal dominant cerebellar ataxia 9.9
3 neuropathy 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia 43

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
gait ataxia
limb ataxia
cerebellar atrophy
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

Human phenotypes related to Spinocerebellar Ataxia 43:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypometric saccades 32 occasional (7.5%) HP:0000571
2 nystagmus 32 occasional (7.5%) HP:0000639
3 dysarthria 32 HP:0001260
4 hyporeflexia 32 HP:0001265
5 cerebellar atrophy 32 HP:0001272
6 tremor 32 HP:0001337
7 pes cavus 32 HP:0001761
8 rigidity 32 occasional (7.5%) HP:0002063
9 gait ataxia 32 HP:0002066
10 limb ataxia 32 HP:0002070
11 distal sensory impairment 32 occasional (7.5%) HP:0002936
12 distal amyotrophy 32 HP:0003693

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:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 43

Variations for Spinocerebellar Ataxia 43

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

75
# Symbol AA change Variation ID SNP ID
1 MME p.Cys143Tyr VAR_077685 rs879255651

ClinVar genetic disease variations for Spinocerebellar Ataxia 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MME NM_000902.3(MME): c.428G> A (p.Cys143Tyr) single nucleotide variant Pathogenic rs879255651 GRCh37 Chromosome 3, 154834337: 154834337
2 MME NM_000902.3(MME): c.428G> A (p.Cys143Tyr) single nucleotide variant Pathogenic rs879255651 GRCh38 Chromosome 3, 155116548: 155116548

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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