SCA38
MCID: SPN284
MIFTS: 31

Spinocerebellar Ataxia 38 (SCA38)

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

Aliases & Classifications for Spinocerebellar Ataxia 38

MalaCards integrated aliases for Spinocerebellar Ataxia 38:

Name: Spinocerebellar Ataxia 38 57 53 75 29 6 73
Sca38 57 53 59 75
Spinocerebellar Ataxia Type 38 12 59 15
Ataxia, Spinocerebellar, Type 38 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset between 34 and 51 years of age


HPO:

32
spinocerebellar ataxia 38:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spinocerebellar Ataxia 38

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 38: 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. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.

MalaCards based summary : Spinocerebellar Ataxia 38, also known as sca38, is related to autosomal dominant cerebellar ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 38 is ELOVL5 (ELOVL Fatty Acid Elongase 5). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are nystagmus and dysarthria

OMIM : 57 Spinocerebellar ataxia-38 is an autosomal dominant neurologic disorder characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy (summary by Di Gregorio et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615957)

Related Diseases for Spinocerebellar Ataxia 38

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 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 38 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 10.4
2 ataxia and polyneuropathy, adult-onset 10.2
3 movement disease 10.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 38

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
slow saccades

Neurologic Peripheral Nervous System:
axonal neuropathy (in some patients)

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


Clinical features from OMIM:

615957

Human phenotypes related to Spinocerebellar Ataxia 38:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0001337
4 behavioral abnormality 59 32 very rare (1%) Very rare (<4-1%) HP:0000708
5 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
6 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
7 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
8 distal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002460
9 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
10 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
11 peripheral neuropathy 59 Frequent (79-30%)
12 limb ataxia 32 HP:0002070
13 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477

UMLS symptoms related to Spinocerebellar Ataxia 38:


gait ataxia, cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 38

Drugs for Spinocerebellar Ataxia 38 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Docosahexaenoic Acid (DHA) Replacement for Treatment in Spinocerebellar Ataxia 38 Completed NCT03109626 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia 38

Genetic Tests for Spinocerebellar Ataxia 38

Genetic tests related to Spinocerebellar Ataxia 38:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 38 29 ELOVL5

Anatomical Context for Spinocerebellar Ataxia 38

MalaCards organs/tissues related to Spinocerebellar Ataxia 38:

41
Brain, Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

# Title Authors Year
1
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. ( 28976605 )
2017
2
Movement disorders: Patients with spinocerebellar ataxia 38 benefit from DHA supplementation. ( 29064469 )
2017
3
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). ( 27143115 )
2016
4
SCA38 is rare in Mainland China. ( 26433464 )
2015
5
ELOVL5 mutations cause spinocerebellar ataxia 38. ( 25065913 )
2014

Variations for Spinocerebellar Ataxia 38

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 38:

75
# Symbol AA change Variation ID SNP ID
1 ELOVL5 p.Leu72Val VAR_072361 rs587777671
2 ELOVL5 p.Gly230Val VAR_072362 rs587777670

ClinVar genetic disease variations for Spinocerebellar Ataxia 38:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELOVL5 NM_021814.4(ELOVL5): c.689G> T (p.Gly230Val) single nucleotide variant Pathogenic rs587777670 GRCh37 Chromosome 6, 53135458: 53135458
2 ELOVL5 NM_021814.4(ELOVL5): c.689G> T (p.Gly230Val) single nucleotide variant Pathogenic rs587777670 GRCh38 Chromosome 6, 53270660: 53270660
3 ELOVL5 NM_001242828.1(ELOVL5): c.214C> G (p.Leu72Val) single nucleotide variant Pathogenic rs587777671 GRCh37 Chromosome 6, 53156606: 53156606
4 ELOVL5 NM_001242828.1(ELOVL5): c.214C> G (p.Leu72Val) single nucleotide variant Pathogenic rs587777671 GRCh38 Chromosome 6, 53291808: 53291808

Expression for Spinocerebellar Ataxia 38

Search GEO for disease gene expression data for Spinocerebellar Ataxia 38.

Pathways for Spinocerebellar Ataxia 38

GO Terms for Spinocerebellar Ataxia 38

Sources for Spinocerebellar Ataxia 38

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
Content
Loading form....