Spinocerebellar Ataxia 38 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 615957

Disease Ontology ¹² DOID:0050985

Orphanet ⁵⁹ ORPHA423296

ICD10 via Orphanet ³⁴ G11.8

MedGen ⁴² C4014812 CN218416

MeSH ⁴⁴ D020754

SNOMED-CT via HPO ⁶⁹ 263681008 404686001 563001 more

UMLS ⁷³ C4014812

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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)

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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

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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

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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

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Genetic Tests for Spinocerebellar Ataxia 38

Genetic tests related to Spinocerebellar Ataxia 38:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 38 ²⁹	ELOVL5

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Anatomical Context for Spinocerebellar Ataxia 38

MalaCards organs/tissues related to Spinocerebellar Ataxia 38:

⁴¹

Brain, Eye, Spinal Cord, Cerebellum

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Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

#	Title	Authors	Year
1	ELOVL5 mutations cause spinocerebellar ataxia 38. ( 25065913 )	Di Gregorio E....Brusco A.	2014

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Genes for Spinocerebellar Ataxia 38

Genes related to Spinocerebellar Ataxia 38 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELOVL5	ELOVL Fatty Acid Elongase 5	Protein Coding	1715.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	25065913

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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

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Expression for Spinocerebellar Ataxia 38

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

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Pathways for Spinocerebellar Ataxia 38

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GO Terms for Spinocerebellar Ataxia 38

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Sources for Spinocerebellar Ataxia 38

¹ BioSystems

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³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia