MCID: SPN284
MIFTS: 27

Spinocerebellar Ataxia 38

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



External Ids:

OMIM 57 615957
Disease Ontology 12 DOID:0050985
Orphanet 59 ORPHA423296
ICD10 via Orphanet 34 G11.8
MeSH 44 D020754
UMLS 73 C4014812

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 has symptoms including cerebellar ataxia and gait 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 slow saccadic eye movements and nystagmus

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 16
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 10.0

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 slow saccadic eye movements 32 HP:0000514
2 nystagmus 32 HP:0000639
3 dysarthria 32 HP:0001260
4 cerebellar atrophy 32 HP:0001272
5 gait ataxia 32 HP:0002066
6 limb ataxia 32 HP:0002070
7 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477

UMLS symptoms related to Spinocerebellar Ataxia 38:


cerebellar ataxia, gait 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 Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Docosahexaenoic Acid (DHA) Replacement for Treatment in Spinocerebellar Ataxia 38 Active, not recruiting 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

Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

# Title Authors Year
1
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
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