SCAR25
MCID: SPN378
MIFTS: 24

Spinocerebellar Ataxia, Autosomal Recessive 25 (SCAR25)

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, Autosomal Recessive 25

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 25:

Name: Spinocerebellar Ataxia, Autosomal Recessive 25 58 6
Scar25 58 76
Spinocerebellar Ataxia, Autosomal Recessive, 25 76
Autosomal Recessive Spinocerebellar Ataxia 25 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spinocerebellar ataxia, autosomal recessive 25:
Onset and clinical course nonprogressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080259
OMIM 58 617584

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 25

UniProtKB/Swiss-Prot : 76 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, spinal cord and cerebellum, and related phenotypes are global developmental delay and cognitive impairment

Description from OMIM: 617584

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 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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 25

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 25:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 cognitive impairment 33 HP:0100543
3 dysmetria 33 HP:0001310
4 cerebellar hypoplasia 33 HP:0001321
5 truncal ataxia 33 HP:0002078
6 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 25

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

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 25

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 25

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

42
Brain, Spinal Cord, Cerebellum, Skin, Liver, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 25

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 25:

# Title Authors Year
1
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. ( 26812546 )
2016
2
Non-progressive congenital ataxia with cerebellar hypoplasia in three families. ( 15981765 )
2005

Variations for Spinocerebellar Ataxia, Autosomal Recessive 25

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

76
# Symbol AA change Variation ID SNP ID
1 ATG5 p.Glu122Asp VAR_079274 rs113169226

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 25

Search GEO for disease gene expression data 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

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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