SCAR26
MCID: SPN384
MIFTS: 25

Spinocerebellar Ataxia, Autosomal Recessive 26 (SCAR26)

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 26

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 26:

Name: Spinocerebellar Ataxia, Autosomal Recessive 26 57 6
Scar26 57 75
Spinocerebellar Ataxia, Autosomal Recessive, 26 75
Autosomal Recessive Spinocerebellar Ataxia 26 12

Characteristics:

OMIM:

57
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:

32
spinocerebellar ataxia, autosomal recessive 26:
Onset and clinical course progressive


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 26

UniProtKB/Swiss-Prot : 75 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 spinal cord, cerebellum and skin, and related phenotypes are nystagmus and dysarthria

Description from OMIM: 617633

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, 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 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 26

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculomotor apraxia
hypermetric saccades

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
distal muscle weakness

Neurologic Central Nervous System:
dysarthria
limb ataxia
dysmetria
dysdiadochokinesis
cerebellar atrophy
more
Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
axonal sensorimotor neuropathy


Clinical features from OMIM:

617633

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 26:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 limb ataxia 32 HP:0002070
4 dysmetria 32 HP:0001310
5 areflexia 32 HP:0001284
6 dysdiadochokinesis 32 HP:0002075
7 cerebellar atrophy 32 HP:0001272
8 sensorimotor neuropathy 32 HP:0007141
9 oculomotor apraxia 32 HP:0000657
10 unsteady gait 32 HP:0002317
11 distal sensory impairment 32 HP:0002936
12 positive romberg sign 32 HP:0002403
13 hypermetric saccades 32 HP:0007338

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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 26

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

41
Spinal Cord, Cerebellum, Skin, Liver, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 26

Variations for Spinocerebellar Ataxia, Autosomal Recessive 26

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

75
# Symbol AA change Variation ID SNP ID
1 XRCC1 p.Lys431Asn VAR_079140 rs761564262

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XRCC1 NM_006297.2(XRCC1): c.1293G> C (p.Lys431Asn) single nucleotide variant Pathogenic rs761564262 GRCh38 Chromosome 19, 43546884: 43546884
2 XRCC1 NM_006297.2(XRCC1): c.1293G> C (p.Lys431Asn) single nucleotide variant Pathogenic rs761564262 GRCh37 Chromosome 19, 44051036: 44051036
3 XRCC1 NM_006297.2(XRCC1): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 43546628: 43546628
4 XRCC1 NM_006297.2(XRCC1): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 44050780: 44050780
5 XRCC1 NM_006297.2(XRCC1): c.767_769delAGA (p.Lys256del) deletion Uncertain significance GRCh37 Chromosome 19, 44057003: 44057005
6 XRCC1 NM_006297.2(XRCC1): c.767_769delAGA (p.Lys256del) deletion Uncertain significance GRCh38 Chromosome 19, 43552851: 43552853

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 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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55 Novoseek
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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