SCA40
MCID: SPN286
MIFTS: 27

Spinocerebellar Ataxia 40 (SCA40)

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 40

MalaCards integrated aliases for Spinocerebellar Ataxia 40:

Name: Spinocerebellar Ataxia 40 57 20 72 29 6
Spinocerebellar Ataxia Type 40 12 20 58 15 17
Sca40 57 20 58 72
Ataxia, Spinocerebellar, Type 40 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 40
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (mid-forties)
wheelchair-bound after 2 decades of disease onset
one family from hong kong has been reported (last curated october 2014)


HPO:

31
spinocerebellar ataxia 40:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050986
OMIM® 57 616053
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA423275

Summaries for Spinocerebellar Ataxia 40

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 40: 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. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume.

MalaCards based summary : Spinocerebellar Ataxia 40, is also known as spinocerebellar ataxia type 40. An important gene associated with Spinocerebellar Ataxia 40 is CCDC88C (Coiled-Coil Domain Containing 88C). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are hyperreflexia and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has material basis in muation in the CCDC88C gene.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 423275 Definition Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

More information from OMIM: 616053 PS164400

Related Diseases for Spinocerebellar Ataxia 40

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

Symptoms & Phenotypes for Spinocerebellar Ataxia 40

Human phenotypes related to Spinocerebellar Ataxia 40:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
4 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
5 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
6 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
7 scanning speech 58 31 frequent (33%) Frequent (79-30%) HP:0002168
8 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
9 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
10 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
11 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
12 functional motor deficit 58 31 frequent (33%) Frequent (79-30%) HP:0004302
13 pontocerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006879
14 neurological speech impairment 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
hyperreflexia

Head And Neck Eyes:
ocular dysmetria
vertical gaze impairment

Neurologic Central Nervous System:
dysarthria
dysdiadochokinesis
spastic paraparesis
unsteady gait
intention tremor
more

Clinical features from OMIM®:

616053 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 40

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 40

Genetic Tests for Spinocerebellar Ataxia 40

Genetic tests related to Spinocerebellar Ataxia 40:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 40 29 CCDC88C

Anatomical Context for Spinocerebellar Ataxia 40

MalaCards organs/tissues related to Spinocerebellar Ataxia 40:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 40

Articles related to Spinocerebellar Ataxia 40:

# Title Authors PMID Year
1
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. 6 57
25062847 2014
2
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. 61
33602173 2021

Variations for Spinocerebellar Ataxia 40

ClinVar genetic disease variations for Spinocerebellar Ataxia 40:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC88C NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) SNV Pathogenic 155879 rs587782989 GRCh37: 14:91787600-91787600
GRCh38: 14:91321256-91321256
2 CCDC88C NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys) SNV Likely pathogenic 978819 rs956104232 GRCh37: 14:91780167-91780167
GRCh38: 14:91313823-91313823
3 CCDC88C NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) SNV Uncertain significance 587642 rs142295786 GRCh37: 14:91739805-91739805
GRCh38: 14:91273461-91273461
4 CCDC88C NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) SNV Uncertain significance 444336 rs201940261 GRCh37: 14:91739030-91739030
GRCh38: 14:91272686-91272686
5 CCDC88C NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) SNV Uncertain significance 1030083 GRCh37: 14:91773407-91773407
GRCh38: 14:91307063-91307063
6 CCDC88C NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) SNV Uncertain significance 1030085 GRCh37: 14:91805645-91805645
GRCh38: 14:91339301-91339301
7 CCDC88C NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) SNV Uncertain significance 1030086 GRCh37: 14:91804467-91804467
GRCh38: 14:91338123-91338123
8 CCDC88C NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) SNV Uncertain significance 1033652 GRCh37: 14:91773557-91773557
GRCh38: 14:91307213-91307213
9 CCDC88C NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) SNV Uncertain significance 447019 rs201414940 GRCh37: 14:91749724-91749724
GRCh38: 14:91283380-91283380
10 CCDC88C NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) SNV Uncertain significance 447015 rs200650758 GRCh37: 14:91779767-91779767
GRCh38: 14:91313423-91313423
11 CCDC88C NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) SNV Uncertain significance 376980 rs200769097 GRCh37: 14:91806262-91806262
GRCh38: 14:91339918-91339918
12 CCDC88C NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg) SNV Uncertain significance 982986 GRCh37: 14:91779473-91779473
GRCh38: 14:91313129-91313129

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 40:

72
# Symbol AA change Variation ID SNP ID
1 CCDC88C p.Arg464His VAR_071981 rs587782989

Expression for Spinocerebellar Ataxia 40

Search GEO for disease gene expression data for Spinocerebellar Ataxia 40.

Pathways for Spinocerebellar Ataxia 40

GO Terms for Spinocerebellar Ataxia 40

Sources for Spinocerebellar Ataxia 40

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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