SCA44
MCID: SPN418
MIFTS: 27

Spinocerebellar Ataxia 44 (SCA44)

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 44

MalaCards integrated aliases for Spinocerebellar Ataxia 44:

Name: Spinocerebellar Ataxia 44 57 12 72 29 6 15
Sca44 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
spinocerebellar ataxia 44:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Spinocerebellar Ataxia 44

UniProtKB/Swiss-Prot : 72 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, cerebellum and spinal cord, and related phenotypes are spasticity and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in heterozygous mutation in the GRM1 gene on chromosome 6q24.

More information from OMIM: 617691 PS164400

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 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 44

Human phenotypes related to Spinocerebellar Ataxia 44:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 delayed speech and language development 31 HP:0000750
5 motor delay 31 HP:0001270
6 dysmetria 31 HP:0001310
7 dysdiadochokinesis 31 HP:0002075
8 gait ataxia 31 HP:0002066
9 cerebellar atrophy 31 HP:0001272
10 frequent falls 31 HP:0002359
11 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
dysmetria
dysdiadochokinesis
gait ataxia
cerebellar atrophy
more
Head And Neck Eyes:
hypermetric saccades
jerky eye movements
roving eye movements (family 3)

Abdomen Gastrointestinal:
dysphagia

Clinical features from OMIM®:

617691 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 44:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 GRM1 NIPBL

Drugs & Therapeutics for Spinocerebellar Ataxia 44

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 44

Genetic Tests for Spinocerebellar Ataxia 44

Genetic tests related to Spinocerebellar Ataxia 44:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 44 29 GRM1

Anatomical Context for Spinocerebellar Ataxia 44

MalaCards organs/tissues related to Spinocerebellar Ataxia 44:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 44

Articles related to Spinocerebellar Ataxia 44:

# Title Authors PMID Year
1
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. 6 57
28886343 2017
2
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes. 61
30367527 2019
3
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018
4
Antiproliferative, differentiating and apoptotic effects elicited by imidazo[1,2-a]pyrazine derivatives. 61
9888266 1999
5
Antiproliferative effects of imidazo[1,2-a]pyrazine derivatives on the Dami cell line. 61
9278095 1997
6
Modulation of the megakaryoblastic Dami cell line differentiation by phosphodiesterase inhibitors and imidazo[1,2-a]pyrazine derivatives. 61
9225365 1997

Variations for Spinocerebellar Ataxia 44

ClinVar genetic disease variations for Spinocerebellar Ataxia 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRM1 NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys) SNV Pathogenic 438856 rs1554274719 GRCh37: 6:146480568-146480568
GRCh38: 6:146159432-146159432
2 GRM1 NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs) Duplication Pathogenic 438857 rs1554317158 GRCh37: 6:146755508-146755509
GRCh38: 6:146434372-146434373
3 GRM1 NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) SNV Pathogenic 438855 rs1554308513 GRCh37: 6:146720550-146720550
GRCh38: 6:146399414-146399414
4 GRM1 NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) SNV Uncertain significance 447469 rs1022097029 GRCh37: 6:146480612-146480612
GRCh38: 6:146159476-146159476
5 GRM1 NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile) SNV Uncertain significance 1031288 GRCh37: 6:146755214-146755214
GRCh38: 6:146434078-146434078
6 GRM1 NM_001278064.2(GRM1):c.1165A>C (p.Asn389His) SNV Uncertain significance 1033818 GRCh37: 6:146625961-146625961
GRCh38: 6:146304825-146304825

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

72
# Symbol AA change Variation ID SNP ID
1 GRM1 p.Tyr262Cys VAR_080186 rs155427471
2 GRM1 p.Tyr792Cys VAR_080187 rs155430851

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
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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