SCA37
MCID: SPN283
MIFTS: 39

Spinocerebellar Ataxia 37 (SCA37)

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 37

MalaCards integrated aliases for Spinocerebellar Ataxia 37:

Name: Spinocerebellar Ataxia 37 56 52 73 29 6 71
Sca37 56 24 52 58 73
Spinocerebellar Ataxia Type 37 12 24 58 15
Spinocerebellar Ataxia with Altered Vertical Eye Movements 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
de novo mutation (in some patients)
some patients become wheelchair-bound
mean age at onset 48 years (range late teens to early 60s)
vertical eye movement abnormalities appear before horizontal eye movement abnormalities
increased frequency among families from southern portugal and spain


HPO:

31
spinocerebellar ataxia 37:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

24
Penetrance Lifelong penetrance in sca37 was 100% in all described families, but penetrance is age dependent [seixas et al 2017, corral-juan et al 2018].

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 37

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 37: 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. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia 37, also known as sca37, is related to ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 37 is DAB1 (DAB Adaptor Protein 1), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are falls and cogwheel rigidity

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has material basis in mutation to the DAB1 gene.

OMIM : 56 Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615945)

GeneReviews: NBK541729

Related Diseases for Spinocerebellar Ataxia 37

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 37 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 16, show less)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.3
2 autosomal dominant cerebellar ataxia 10.3
3 hereditary ataxia 10.3
4 early myoclonic encephalopathy 10.2
5 cerebellar degeneration 10.2
6 kearns-sayre syndrome 10.1
7 aceruloplasminemia 10.1
8 movement disease 10.1
9 peripheral nervous system disease 10.1
10 neuropathy 10.1
11 pathologic nystagmus 10.1
12 dysphagia 10.1
13 lissencephaly with cerebellar hypoplasia 9.8 RELN DAB1
14 tremor 9.7 SNCA SAMD12
15 temporal lobe epilepsy 9.2 RELN CALB1
16 pervasive developmental disorder 9.0 SNCA RELN CALB1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 37:



Diseases related to Spinocerebellar Ataxia 37

Symptoms & Phenotypes for Spinocerebellar Ataxia 37

Human phenotypes related to Spinocerebellar Ataxia 37:

58 31 (showing 23, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002527
2 cogwheel rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002396
3 abnormal conjugate eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000549
4 tremor 58 31 occasional (7.5%) Frequent (79-30%) HP:0001337
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
7 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
8 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
9 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
10 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
11 scanning speech 58 31 frequent (33%) Frequent (79-30%) HP:0002168
12 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
13 diffuse cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100275
14 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
15 nystagmus 31 occasional (7.5%) HP:0000639
16 dysphagia 31 occasional (7.5%) HP:0002015
17 neurological speech impairment 58 Frequent (79-30%)
18 ataxia 31 HP:0001251
19 dysarthria 31 HP:0001260
20 gait disturbance 58 Frequent (79-30%)
21 cerebellar atrophy 31 HP:0001272
22 frequent falls 31 HP:0002359
23 unsteady gait 31 HP:0002317

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
altered vertical eye movements
inaccurate saccades
irregular pursuit
altered horizontal eye movements

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
dysarthria
tremor
cerebellar atrophy
frequent falls
cerebellar ataxia
more

Clinical features from OMIM:

615945

UMLS symptoms related to Spinocerebellar Ataxia 37:


cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 37

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 37

Genetic Tests for Spinocerebellar Ataxia 37

Genetic tests related to Spinocerebellar Ataxia 37:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 37 29 DAB1

Anatomical Context for Spinocerebellar Ataxia 37

MalaCards organs/tissues related to Spinocerebellar Ataxia 37:

40
Eye, Brain, Cerebellum, Spinal Cord, Cortex, Liver, Skin

Publications for Spinocerebellar Ataxia 37

Articles related to Spinocerebellar Ataxia 37:

(showing 18, show less)
# Title Authors PMID Year
1
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. 61 24 56 6
29939198 2018
2
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. 61 24 56 6
28686858 2017
3
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. 61 24 56 6
23700170 2013
4
Spinocerebellar Ataxia Type 37 61 6
31145571 2019
5
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution. 61 24
30588707 2019
6
Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). 24
27466200 2016
7
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies. 24
26061568 2015
8
Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice. 24
24462098 2014
9
Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population. 24
23333377 2013
10
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. 24
23609960 2013
11
Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. 24
21964941 2012
12
Nova2 regulates neuronal migration through an RNA switch in disabled-1 signaling. 24
20620871 2010
13
Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? 24
18680192 2008
14
Scale for the assessment and rating of ataxia: development of a new clinical scale. 24
16769946 2006
15
Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. 24
9338784 1997
16
Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population. 61
31737797 2019
17
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. 61
29891931 2018
18
Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinson's disease or cerebellar ataxia. 61
16175360 2006

Variations for Spinocerebellar Ataxia 37

ClinVar genetic disease variations for Spinocerebellar Ataxia 37:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DAB1 NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]insertion Pathogenic 430691 1:57832716-57832797

Expression for Spinocerebellar Ataxia 37

Search GEO for disease gene expression data for Spinocerebellar Ataxia 37.

Pathways for Spinocerebellar Ataxia 37

Pathways related to Spinocerebellar Ataxia 37 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1 11.87 SNCA DAB1 CALB1
2 11.32 RELN DAB1
3 10.45 RELN DAB1
4 10.09 RELN DAB1

GO Terms for Spinocerebellar Ataxia 37

Cellular components related to Spinocerebellar Ataxia 37 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 postsynapse GO:0098794 9.26 SNCA CALB1
2 GABA-ergic synapse GO:0098982 9.16 CALB1 C1QBP
3 neuron projection GO:0043005 9.13 RELN DAB1 CALB1
4 neuronal cell body GO:0043025 8.8 SNCA DAB1 CALB1

Biological processes related to Spinocerebellar Ataxia 37 according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.46 RELN DAB1
2 hippocampus development GO:0021766 9.43 RELN DAB1
3 positive regulation of protein kinase activity GO:0045860 9.4 RELN DAB1
4 long-term synaptic potentiation GO:0060291 9.37 SNCA RELN
5 dendrite development GO:0016358 9.32 RELN DAB1
6 long-term memory GO:0007616 9.26 RELN CALB1
7 calcium ion homeostasis GO:0055074 9.16 SNCA CALB1
8 ventral spinal cord development GO:0021517 8.96 RELN DAB1
9 lateral motor column neuron migration GO:0097477 8.62 RELN DAB1

Sources for Spinocerebellar Ataxia 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....