MCID: SPN376
MIFTS: 26

Spinocerebellar Ataxia, Autosomal Recessive 24

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 24

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 24:

Name: Spinocerebellar Ataxia, Autosomal Recessive 24 57 29 6
Scar24 57 75
Ataxia, Spinocerebellar, Autosomal Recessive, Type 24 40
Spinocerebellar Ataxia, Autosomal Recessive, 24 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
progressive disorder
two chinese sibs have been reported (last curated september 2016)


HPO:

32
spinocerebellar ataxia, autosomal recessive 24:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 24: 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. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 24, also known as scar24, is related to epileptic encephalopathy, early infantile, 44. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 24 is UBA5 (Ubiquitin Like Modifier Activating Enzyme 5). Affiliated tissues include spinal cord, cerebellum and brain, and related phenotypes are cataract and nystagmus

Description from OMIM: 617133

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 24

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, Autosomal Recessive 24 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 44 9.0 NPHP3-ACAD11 UBA5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 24

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor overall growth in childhood
normal size as adult

Neurologic Central Nervous System:
gait ataxia
limb ataxia
mild spastic gait (in 1 of 2 sibs)
dysarthria
normal cognition
more
Head And Neck Eyes:
cataracts
nystagmus

Neurologic Peripheral Nervous System:
demyelinating sensorimotor neuropathy (in 1 of 2 sibs)


Clinical features from OMIM:

617133

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 24:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
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

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 24

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 24

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 24

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 24:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 24 29 UBA5

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 24

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 24:

41
Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia, Autosomal Recessive 24

Variations for Spinocerebellar Ataxia, Autosomal Recessive 24

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 24:

75
# Symbol AA change Variation ID SNP ID
1 UBA5 p.Lys310Glu VAR_077157 rs886039762

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UBA5 NM_024818.4(UBA5): c.1111G> A (p.Ala371Thr) single nucleotide variant Pathogenic rs114925667 GRCh38 Chromosome 3, 132675903: 132675903
2 UBA5 NM_024818.4(UBA5): c.1111G> A (p.Ala371Thr) single nucleotide variant Pathogenic rs114925667 GRCh37 Chromosome 3, 132394747: 132394747
3 UBA5 NM_024818.4(UBA5): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs374052333 GRCh37 Chromosome 3, 132389876: 132389876
4 UBA5 NM_024818.4(UBA5): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs374052333 GRCh38 Chromosome 3, 132671032: 132671032
5 UBA5 NM_024818.4(UBA5): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs540839115 GRCh38 Chromosome 3, 132672101: 132672101
6 UBA5 NM_024818.4(UBA5): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs540839115 GRCh37 Chromosome 3, 132390945: 132390945
7 UBA5 NM_198329.3(UBA5): c.760A> G (p.Lys254Glu) single nucleotide variant Pathogenic rs886039762 GRCh38 Chromosome 3, 132675363: 132675363
8 UBA5 NM_198329.3(UBA5): c.760A> G (p.Lys254Glu) single nucleotide variant Pathogenic rs886039762 GRCh37 Chromosome 3, 132394207: 132394207

Expression for Spinocerebellar Ataxia, Autosomal Recessive 24

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 24.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 24

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 24

Sources for Spinocerebellar Ataxia, Autosomal Recessive 24

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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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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