MCID: SPN286
MIFTS: 24

Spinocerebellar Ataxia 40

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 40

MalaCards integrated aliases for Spinocerebellar Ataxia 40:

Name: Spinocerebellar Ataxia 40 57 53 75 29 6
Sca40 57 53 59 75
Spinocerebellar Ataxia Type 40 12 59
Ataxia, Spinocerebellar, Type 40 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 40
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
spinocerebellar ataxia 40:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616053
Disease Ontology 12 DOID:0050986
Orphanet 59 ORPHA423275
ICD10 via Orphanet 34 G11.8
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 40

UniProtKB/Swiss-Prot : 75 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 sca40. An important gene associated with Spinocerebellar Ataxia 40 is CCDC88C (Coiled-Coil Domain Containing 88C). Affiliated tissues include spinal cord, cerebellum and brain, and related phenotypes are vertical supranuclear gaze palsy and dysarthria

Description from OMIM: 616053

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, 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

Symptoms & Phenotypes for Spinocerebellar Ataxia 40

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
intention tremor
dysdiadochokinesis
pontocerebellar atrophy
unsteady gait
more
Head And Neck Eyes:
ocular dysmetria
vertical gaze impairment

Neurologic Peripheral Nervous System:
hyperreflexia


Clinical features from OMIM:

616053

Human phenotypes related to Spinocerebellar Ataxia 40:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertical supranuclear gaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0000511
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
6 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
7 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
8 broad-based gait 59 32 frequent (33%) Frequent (79-30%) HP:0002136
9 scanning speech 59 32 frequent (33%) Frequent (79-30%) HP:0002168
10 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
11 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
12 pontocerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006879
13 neurological speech impairment 59 Frequent (79-30%)
14 functional motor problems 59 Frequent (79-30%)
15 functional motor deficit 32 frequent (33%) HP:0004302

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:

41
Spinal Cord, Cerebellum, Brain, Eye

Publications for Spinocerebellar Ataxia 40

Variations for Spinocerebellar Ataxia 40

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

75
# Symbol AA change Variation ID SNP ID
1 CCDC88C p.Arg464His VAR_071981 rs587782989

ClinVar genetic disease variations for Spinocerebellar Ataxia 40:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC88C NM_001080414.3(CCDC88C): c.1391G> A (p.Arg464His) single nucleotide variant Pathogenic rs587782989 GRCh37 Chromosome 14, 91787600: 91787600
2 CCDC88C NM_001080414.3(CCDC88C): c.1391G> A (p.Arg464His) single nucleotide variant Pathogenic rs587782989 GRCh38 Chromosome 14, 91321256: 91321256

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 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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