MCID: SPN375
MIFTS: 25

Spinocerebellar Ataxia, Autosomal Recessive 22

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 22

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 22:

Name: Spinocerebellar Ataxia, Autosomal Recessive 22 57 29 6
Scar22 57 75
Spinocerebellar Ataxia, Autosomal Recessive, 22 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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)


HPO:

32
spinocerebellar ataxia, autosomal recessive 22:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 22

UniProtKB/Swiss-Prot : 75 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, spinal cord and t cells, and related phenotypes are nystagmus and intellectual disability

Description from OMIM: 616948

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, 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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 22

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
intellectual disability
spasticity
dysarthria
hyperreflexia
dysmetria
more

Clinical features from OMIM:

616948

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 22:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 dysarthria 32 HP:0001260
4 cerebellar atrophy 32 HP:0001272
5 dysmetria 32 HP:0001310
6 hyperreflexia 32 HP:0001347
7 lower limb spasticity 32 HP:0002061
8 truncal ataxia 32 HP:0002078
9 hypoplasia of the corpus callosum 32 HP:0002079
10 intention tremor 32 HP:0002080
11 unsteady gait 32 HP:0002317
12 abnormal pyramidal signs 32 HP:0007256

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 22

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination CAR-T Cell Therapy Targeting Hematological Malignancies Recruiting NCT03125577 Phase 1, Phase 2

Search 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:

41
Cerebellum, Spinal Cord, T Cells

Publications for Spinocerebellar Ataxia, Autosomal Recessive 22

Variations for Spinocerebellar Ataxia, Autosomal Recessive 22

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

75
# Symbol AA change Variation ID SNP ID
1 VWA3B p.Lys622Thr VAR_075091 rs876657414

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VWA3B NM_144992.4(VWA3B): c.1865A> C (p.Lys622Thr) single nucleotide variant Pathogenic rs876657414 GRCh37 Chromosome 2, 98834337: 98834337
2 VWA3B NM_144992.4(VWA3B): c.1865A> C (p.Lys622Thr) single nucleotide variant Pathogenic rs876657414 GRCh38 Chromosome 2, 98217874: 98217874

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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