SCAR22
MCID: SPN375
MIFTS: 23

Spinocerebellar Ataxia, Autosomal Recessive 22 (SCAR22)

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 22

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 22:

Name: Spinocerebellar Ataxia, Autosomal Recessive 22 57 29 6
Scar22 57 12 72
Ataxia, Spinocerebellar, Autosomal Recessive, Type 22 39
Spinocerebellar Ataxia, Autosomal Recessive, 22 72
Autosomal Recessive Spinocerebellar Ataxia 22 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
onset of intellectual disability in childhood
onset of ataxia around age 40 years
one consanguineous japanese family has been reported (last curated may 2016)

Inheritance:
autosomal recessive


HPO:

31
spinocerebellar ataxia, autosomal recessive 22:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 22

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 22: 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. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 22, is also known as scar22. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 22 is VWA3B (Von Willebrand Factor A Domain Containing 3B). Affiliated tissues include cerebellum and spinal cord, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in VWA3B on chromosome 2q11.2.

More information from OMIM: 616948 PS213200

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 22

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 22

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 22:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hyperreflexia 31 HP:0001347
3 abnormal pyramidal sign 31 HP:0007256
4 nystagmus 31 HP:0000639
5 dysarthria 31 HP:0001260
6 dysmetria 31 HP:0001310
7 hypoplasia of the corpus callosum 31 HP:0002079
8 cerebellar atrophy 31 HP:0001272
9 unsteady gait 31 HP:0002317
10 intention tremor 31 HP:0002080
11 lower limb spasticity 31 HP:0002061
12 truncal ataxia 31 HP:0002078

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
dysarthria
dysmetria
more
Head And Neck Eyes:
nystagmus

Clinical features from OMIM®:

616948 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 22

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 22

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 22

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 22:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 22 29 VWA3B

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 22

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 22:

40
Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 22

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 22:

# Title Authors PMID Year
1
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. 57 6
26157035 2016

Variations for Spinocerebellar Ataxia, Autosomal Recessive 22

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VWA3B NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr) SNV Pathogenic 226428 rs876657414 GRCh37: 2:98834337-98834337
GRCh38: 2:98217874-98217874
2 VWA3B NM_144992.5(VWA3B):c.655G>T (p.Glu219Ter) SNV Pathogenic 756020 rs139296152 GRCh37: 2:98737874-98737874
GRCh38: 2:98121411-98121411
3 VWA3B NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) SNV Likely pathogenic 1030231 GRCh37: 2:98797555-98797555
GRCh38: 2:98181092-98181092
4 VWA3B NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) SNV Uncertain significance 1034286 GRCh37: 2:98906996-98906996
GRCh38: 2:98290533-98290533

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 22:

72
# Symbol AA change Variation ID SNP ID
1 VWA3B p.Lys622Thr VAR_075091 rs876657414

Expression for Spinocerebellar Ataxia, Autosomal Recessive 22

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 22.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 22

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 22

Sources for Spinocerebellar Ataxia, Autosomal Recessive 22

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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