SCAR24
MCID: SPN376
MIFTS: 33

Spinocerebellar Ataxia, Autosomal Recessive 24 (SCAR24)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin 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 12 73
Autosomal Recessive Spinocerebellar Ataxia 24 12 15
Ataxia, Spinocerebellar, Autosomal Recessive, Type 24 39
Spinocerebellar Ataxia, Autosomal Recessive, 24 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spinocerebellar ataxia, autosomal recessive 24:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111615
OMIM® 57 617133
OMIM Phenotypic Series 57 PS213200

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 73 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 developmental and epileptic encephalopathy 44 and cerebellar ataxia type 47. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 24 is UBA5 (Ubiquitin Like Modifier Activating Enzyme 5). Affiliated tissues include cerebellum and spinal cord, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in UBA5 on chromosome 3q22.1.

More information from OMIM: 617133 PS213200

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 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, Autosomal Recessive 28 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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 44 10.3 UBA5 NPHP3-ACAD11
2 cerebellar ataxia type 47 10.3 PLD3 FAT2
3 hereditary spastic paraplegia 23 10.2 KIF1C CYP7B1
4 spastic paraplegia 5a 10.2 GBA2 CYP7B1
5 spastic paraplegia 18, autosomal recessive 10.1 SPG7 FA2H
6 spastic paraplegia 48, autosomal recessive 10.1 SPG7 FA2H
7 spastic paraplegia 7, autosomal recessive 10.1 SPG7 PNPLA6
8 spastic paraplegia 63, autosomal recessive 10.1 SPG7 CYP7B1
9 spastic paraplegia 5a, autosomal recessive 10.1 SPG7 CYP7B1
10 spastic paraplegia 43, autosomal recessive 10.1 PNPLA6 GBA2 FA2H
11 acrocephalopolysyndactyly type iii 10.0 FA2H ATP13A2
12 oromandibular dystonia 10.0 FA2H ATP13A2
13 hereditary spastic paraplegia 30 10.0 SPG7 KIF1C FA2H
14 neurodegeneration with brain iron accumulation 2b 10.0 FA2H ATP13A2
15 spastic paraplegia 42, autosomal dominant 10.0 SPG7 PNPLA6
16 spastic paraplegia 56, autosomal recessive 10.0 SPG7 GBA2 FA2H
17 spastic paraplegia 26, autosomal recessive 10.0 SPG7 GBA2 FA2H
18 spastic paraplegia 20, autosomal recessive 10.0 SPG7 PNPLA6
19 spastic paraparesis 10.0 SPG7 GBA2 FA2H
20 neurodegeneration with brain iron accumulation 5 10.0 FA2H ATP13A2
21 spastic paraplegia 28, autosomal recessive 10.0 SPG7 PNPLA6 FA2H
22 neurodegeneration with brain iron accumulation 6 10.0 FA2H ATP13A2
23 neurodegeneration with brain iron accumulation 3 10.0 FA2H ATP13A2
24 parkinson disease 15, autosomal recessive early-onset 9.9 FA2H ATP13A2
25 spastic paraplegia 2, x-linked 9.9 SPG7 FA2H CYP7B1
26 neurodegeneration with brain iron accumulation 1 9.9 FA2H ATP13A2
27 spinocerebellar ataxia, autosomal recessive 21 9.9 UBA5 PLD3 KIF1C GBA2 FAT2
28 aceruloplasminemia 9.9 PNPLA6 FA2H ATP13A2
29 kufor-rakeb syndrome 9.8 FA2H ATP13A2
30 mitochondrial complex iii deficiency, nuclear type 2 9.8 SPG7 GRM1
31 spastic paraplegia 54, autosomal recessive 9.8 SPG7 PNPLA6 GBA2 FA2H
32 neurodegeneration with brain iron accumulation 2a 9.8 FA2H ATP13A2
33 spastic paraplegia 15, autosomal recessive 9.8 SPG7 GBA2 FA2H CYP7B1
34 complex hereditary spastic paraplegia 9.8 SPG7 CYP7B1 ATP13A2
35 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.8 GRM1 CAPN1
36 neuroaxonal dystrophy 9.7 FA2H ATP13A2
37 spastic paraplegia 73, autosomal dominant 9.6 UBA5 PNPLA6 KIF1C GBA2 FA2H CPT1C
38 autosomal recessive cerebellar ataxia 9.6 UBA5 SPG7 GRM1 GBA2
39 spastic paraplegia 39, autosomal recessive 9.6 SPG7 PNPLA6 GBA2 FA2H CYP7B1
40 spastic ataxia 9.6 SPG7 PNPLA6 KIF1C GBA2 CAPN1
41 spastic paraplegia 46, autosomal recessive 9.5 SPG7 PNPLA6 KIF1C GBA2 FA2H CYP7B1
42 spastic paraplegia 4, autosomal dominant 9.5 SPG7 PNPLA6 KIF1C GBA2 FA2H CYP7B1
43 spastic paraplegia 35, autosomal recessive 9.4 SPG7 PNPLA6 FA2H CYP7B1 ATP13A2
44 hereditary ataxia 9.4 SPG7 PNPLA6 GRM1 CAPN1
45 spastic paraplegia 76, autosomal recessive 9.3 UBA5 PLD3 KIF1C GBA2 FAT2 CAPN1
46 paraplegia 8.8 SPG7 PNPLA6 GBA2 FA2H CYP7B1 CPT1C
47 hereditary spastic paraplegia 8.6 SPG7 PNPLA6 KIF1C GBA2 FA2H CYP7B1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 24:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 24

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 24

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 24:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 dysarthria 31 HP:0001260
3 cataract 31 HP:0000518
4 gait ataxia 31 HP:0002066
5 cerebellar atrophy 31 HP:0001272
6 spastic gait 31 HP:0002064
7 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
cataracts

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

Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
normal cognition
more
Neurologic Peripheral Nervous System:
demyelinating sensorimotor neuropathy (in 1 of 2 sibs)

Clinical features from OMIM®:

617133 (Updated 05-Mar-2021)

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:

40
Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 24

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 24:

# Title Authors PMID Year
1
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. 57 6
26872069 2016
2
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 24

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3-ACAD11 NM_024818.4(UBA5):c.928A>G (p.Lys310Glu) SNV Pathogenic 265757 rs886039762 3:132394207-132394207 3:132675363-132675363
2 NPHP3-ACAD11 NM_024818.4(UBA5):c.736C>T (p.Arg246Ter) SNV Pathogenic 265756 rs540839115 3:132390945-132390945 3:132672101-132672101
3 NPHP3-ACAD11 NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) SNV Pathogenic 265745 rs114925667 3:132394747-132394747 3:132675903-132675903
4 NPHP3-ACAD11 NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) SNV Likely pathogenic 265749 rs374052333 3:132389876-132389876 3:132671032-132671032

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

73
# Symbol AA change Variation ID SNP ID
1 UBA5 p.Lys310Glu VAR_077157 rs886039762

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

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.03 UBA5 SPG7 PNPLA6 PLD3 GRM1 GBA2
2 integral component of membrane GO:0016021 9.85 SPG7 PNPLA6 PLD3 GRM1 GBA2 FAT2
3 endoplasmic reticulum GO:0005783 9.56 UBA5 PNPLA6 PLD3 KIF1C GBA2 FA2H
4 endoplasmic reticulum membrane GO:0005789 9.17 UBA5 PNPLA6 PLD3 GBA2 FA2H CYP7B1

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.02 PNPLA6 GBA2 FA2H CYP7B1 CPT1C

Sources for Spinocerebellar Ataxia, Autosomal Recessive 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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