SCAR26
MCID: SPN384
MIFTS: 23

Spinocerebellar Ataxia, Autosomal Recessive 26 (SCAR26)

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 26

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 26:

Name: Spinocerebellar Ataxia, Autosomal Recessive 26 57 29 6
Scar26 57 72
Spinocerebellar Ataxia, Autosomal Recessive, 26 72
Autosomal Recessive Spinocerebellar Ataxia 26 12

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
loss of independent ambulation
onset in young adulthood
one patient of indian descent has been reported (last curated august 2017)


HPO:

31
spinocerebellar ataxia, autosomal recessive 26:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 26

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 26: 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. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 26, is also known as scar26. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 26 is XRCC1 (X-Ray Repair Cross Complementing 1). 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 compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.

More information from OMIM: 617633 PS213200

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 26

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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 26

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 26:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 areflexia 31 HP:0001284
5 dysmetria 31 HP:0001310
6 dysdiadochokinesis 31 HP:0002075
7 positive romberg sign 31 HP:0002403
8 cerebellar atrophy 31 HP:0001272
9 oculomotor apraxia 31 HP:0000657
10 unsteady gait 31 HP:0002317
11 distal muscle weakness 31 HP:0002460
12 distal sensory impairment 31 HP:0002936
13 limb ataxia 31 HP:0002070
14 sensorimotor neuropathy 31 HP:0007141
15 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
oculomotor apraxia
hypermetric saccades

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
distal muscle weakness

Neurologic Central Nervous System:
dysarthria
dysmetria
dysdiadochokinesis
positive romberg sign
cerebellar atrophy
more
Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
axonal sensorimotor neuropathy

Clinical features from OMIM®:

617633 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 26

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 26

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 26

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 26:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 26 29 XRCC1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 26

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 26:

40
Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 26

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 26:

# Title Authors PMID Year
1
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. 57 6
28002403 2017
2
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 26

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XRCC1 NM_006297.2(XRCC1):c.1393C>T (p.Gln465Ter) SNV Pathogenic 433532 rs1555768154 GRCh37: 19:44050780-44050780
GRCh38: 19:43546628-43546628
2 XRCC1 NM_006297.2(XRCC1):c.1293G>C (p.Lys431Asn) SNV Pathogenic 433531 rs761564262 GRCh37: 19:44051036-44051036
GRCh38: 19:43546884-43546884
3 XRCC1 NM_006297.2(XRCC1):c.764_766AGA[1] (p.Lys256del) Microsatellite Uncertain significance 548581 rs777476390 GRCh37: 19:44057003-44057005
GRCh38: 19:43552851-43552853
4 XRCC1 NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) SNV Uncertain significance 1032426 GRCh37: 19:44047814-44047814
GRCh38: 19:43543662-43543662

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 26:

72
# Symbol AA change Variation ID SNP ID
1 XRCC1 p.Lys431Asn VAR_079140 rs761564262

Expression for Spinocerebellar Ataxia, Autosomal Recessive 26

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 26.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 26

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 26

Sources for Spinocerebellar Ataxia, Autosomal Recessive 26

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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