MCID: SPN418
MIFTS: 20

Spinocerebellar Ataxia 44

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 44

MalaCards integrated aliases for Spinocerebellar Ataxia 44:

Name: Spinocerebellar Ataxia 44 57 12 75 6
Sca44 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
three unrelated families have been reported (last curated september 2017)
families 1 and 2 showed adult-onset of cerebellar ataxia (range twenties to fifties)
slowly progressive
patient 3 had sporadic disease with earlier onset in childhood


Classifications:



External Ids:

OMIM 57 617691
Disease Ontology 12 DOID:0080286
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 44

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 44: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA44 is a slowly progressive, autosomal dominant form.

MalaCards based summary : Spinocerebellar Ataxia 44, is also known as sca44. An important gene associated with Spinocerebellar Ataxia 44 is GRM1 (Glutamate Metabotropic Receptor 1). Affiliated tissues include eye, spinal cord and cerebellum.

Description from OMIM: 617691

Related Diseases for Spinocerebellar Ataxia 44

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 44

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypermetric saccades
jerky eye movements
roving eye movements (family 3)

Neurologic Central Nervous System:
cerebellar ataxia
gait ataxia
frequent falls
delayed motor development (family 3)
learning disability (family 3)
more
Abdomen Gastrointestinal:
dysphagia


Clinical features from OMIM:

617691

Drugs & Therapeutics for Spinocerebellar Ataxia 44

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 44

Genetic Tests for Spinocerebellar Ataxia 44

Anatomical Context for Spinocerebellar Ataxia 44

MalaCards organs/tissues related to Spinocerebellar Ataxia 44:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 44

Variations for Spinocerebellar Ataxia 44

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 44:

75
# Symbol AA change Variation ID SNP ID
1 GRM1 p.Tyr262Cys VAR_080186
2 GRM1 p.Tyr792Cys VAR_080187

ClinVar genetic disease variations for Spinocerebellar Ataxia 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRM1 NM_001278064.1(GRM1): c.2375A> G (p.Tyr792Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 146399414: 146399414
2 GRM1 NM_001278064.1(GRM1): c.2375A> G (p.Tyr792Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 146720550: 146720550
3 GRM1 NG_012839.1: g.136787A> G single nucleotide variant Pathogenic GRCh38 Chromosome 6, 146159432: 146159432
4 GRM1 NG_012839.1: g.136787A> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 146480568: 146480568
5 GRM1 NM_001278064.1(GRM1): c.3165dup (p.Gly1056Argfs) duplication Pathogenic GRCh37 Chromosome 6, 146755512: 146755512
6 GRM1 NM_001278064.1(GRM1): c.3165dup (p.Gly1056Argfs) duplication Pathogenic GRCh38 Chromosome 6, 146434376: 146434376

Expression for Spinocerebellar Ataxia 44

Search GEO for disease gene expression data for Spinocerebellar Ataxia 44.

Pathways for Spinocerebellar Ataxia 44

GO Terms for Spinocerebellar Ataxia 44

Sources for Spinocerebellar Ataxia 44

3 CDC
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11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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