Spinocerebellar Ataxia, Autosomal Recessive 25 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 25

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 25:

Name: Spinocerebellar Ataxia, Autosomal Recessive 25 ⁵⁷ ⁶

Scar25 ⁵⁷ ⁷⁵

Spinocerebellar Ataxia, Autosomal Recessive, 25 ⁷⁵

Autosomal Recessive Spinocerebellar Ataxia 25 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
nonprogressive disorder
one consanguineous turkish family has been reported (last curated july 2017)

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)

External Ids:

OMIM ⁵⁷ 617584

Disease Ontology ¹² DOID:0080259

MedGen ⁴² C4539808 CN349871

MeSH ⁴⁴ D002524 D013132

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 25

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia, autosomal recessive, 25: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 25, is also known as scar25. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 25 is ATG5 (Autophagy Related 5). Affiliated tissues include spinal cord, cerebellum and brain.

Description from OMIM: 617584

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 25

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

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 25

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
delayed psychomotor development
delayed walking
cognitive impairment
spinocerebellar ataxia
truncal ataxia
more

Clinical features from OMIM:

617584

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 25

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 25

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Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 25

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 25

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 25:

⁴¹

Spinal Cord, Cerebellum, Brain

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 25

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 25

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 25 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATG5	Autophagy Related 5	Protein Coding	1277.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	15981765 26812546

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 25

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 25:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ATG5	p.Glu122Asp	VAR_079274

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 25:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATG5	NM_004849.3(ATG5): c.366A> T (p.Glu122Asp)	single nucleotide variant	Pathogenic	rs1131692265	GRCh37	Chromosome 6, 106727648: 106727648
2	ATG5	NM_004849.3(ATG5): c.366A> T (p.Glu122Asp)	single nucleotide variant	Pathogenic	rs1131692265	GRCh38	Chromosome 6, 106279773: 106279773

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 25

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 25.

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 25

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 25

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Sources for Spinocerebellar Ataxia, Autosomal Recessive 25

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia