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 ⁵⁶ ²⁹ ⁶

Scar25 ⁵⁶ ⁷³

Spinocerebellar Ataxia, Autosomal Recessive, 25 ⁷³

Autosomal Recessive Spinocerebellar Ataxia 25 ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

spinocerebellar ataxia, autosomal recessive 25:
Inheritance autosomal recessive inheritance
Onset and clinical course nonprogressive

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080259

OMIM ⁵⁶ 617584

OMIM Phenotypic Series ⁵⁶ PS213200

MeSH ⁴³ D002524 D013132

MedGen ⁴¹ C4539808 CN349871

SNOMED-CT via HPO ⁶⁸ 16026008 224958001 250067008 more

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 25

UniProtKB/Swiss-Prot : ⁷³ 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 brain, cerebellum and spinal cord, and related phenotypes are nystagmus and global developmental delay

More information from OMIM: 617584 PS213200

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 25

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 2
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 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 48	Spinocerebellar Ataxia, Autosomal Recessive 27
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 25:

³¹ (show all 7)

#	Description	HPO Source Accession
1	nystagmus ³¹	HP:0000639
2	global developmental delay ³¹	HP:0001263
3	cognitive impairment ³¹	HP:0100543
4	dysmetria ³¹	HP:0001310
5	cerebellar hypoplasia ³¹	HP:0001321
6	truncal ataxia ³¹	HP:0002078
7	delayed ability to walk ³¹	HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
cognitive impairment
dysmetria
cerebellar hypoplasia
truncal ataxia
delayed psychomotor development
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

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 25:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia, Autosomal Recessive 25 ²⁹	ATG5

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 25

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

⁴⁰

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

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 25

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 25:

#	Title	Authors	PMID	Year
1	Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. ⁵⁶ ⁶	Kim M...Burmeister M	26812546	2016
2	Non-progressive congenital ataxia with cerebellar hypoplasia in three families. ⁵⁶ ⁶	Yapici Z...Eraksoy M	15981765	2005
3	Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. ⁵⁶	Hara T...Mizushima N	16625204	2006
4	The role of autophagy during the early neonatal starvation period. ⁵⁶	Kuma A...Mizushima N	15525940	2004

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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	1367.75	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	15981765 26812546

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 25

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

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATG5	NM_004849.4(ATG5):c.366A>T (p.Glu122Asp)	SNV	Pathogenic	430932	rs1131692265	6:106727648-106727648	6:106279773-106279773

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ATG5	p.Glu122Asp	VAR_079274	rs113169226

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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

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⁴ Cell Signaling Technology

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³⁵ IUPHAR

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

⁴⁴ MESH via Orphanet

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM

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⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 25 (SCAR25)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 25

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 25:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 25

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 25

Diseases in the Spinocerebellar Ataxia 6 family:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 25

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 25:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 25

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 25

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 25:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 25

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 25

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 25:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 25

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

Variations for Spinocerebellar Ataxia, Autosomal Recessive 25

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

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 25

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 25

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 25

Sources for Spinocerebellar Ataxia, Autosomal Recessive 25