SCA37
MCID: SPN283
MIFTS: 41

Spinocerebellar Ataxia 37 (SCA37)

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

Aliases & Classifications for Spinocerebellar Ataxia 37

MalaCards integrated aliases for Spinocerebellar Ataxia 37:

Name: Spinocerebellar Ataxia 37 58 54 76 30 6 74
Sca37 58 54 60 76
Spinocerebellar Ataxia Type 37 12 60 15
Spinocerebellar Ataxia with Altered Vertical Eye Movements 60

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
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:

33
spinocerebellar ataxia 37:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 37

UniProtKB/Swiss-Prot : 76 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 cone-rod dystrophy and hearing loss 2 and ataxia and polyneuropathy, adult-onset, 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 : 58 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)

Related Diseases for Spinocerebellar Ataxia 37

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 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 7, show less)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 ataxia and polyneuropathy, adult-onset 10.1
3 autosomal dominant cerebellar ataxia 10.1
4 lissencephaly with cerebellar hypoplasia 10.0 DAB1 RELN
5 neuronal migration disorders 9.9 CALB1 RELN
6 disease of mental health 9.8 RELN SNCA
7 temporal lobe epilepsy 9.7 CALB1 RELN

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:

60 33 (showing 23, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 falls 60 33 hallmark (90%) Very frequent (99-80%) HP:0002527
2 cogwheel rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002396
3 abnormal conjugate eye movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0000549
4 tremor 60 33 occasional (7.5%) Frequent (79-30%) HP:0001337
5 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
6 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
7 dysdiadochokinesis 60 33 frequent (33%) Frequent (79-30%) HP:0002075
8 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
9 horizontal nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000666
10 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
11 scanning speech 60 33 frequent (33%) Frequent (79-30%) HP:0002168
12 sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0003474
13 diffuse cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100275
14 limb dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0002406
15 nystagmus 33 occasional (7.5%) HP:0000639
16 dysphagia 33 occasional (7.5%) HP:0002015
17 ataxia 33 HP:0001251
18 dysarthria 33 HP:0001260
19 gait disturbance 60 Frequent (79-30%)
20 neurological speech impairment 60 Frequent (79-30%)
21 cerebellar atrophy 33 HP:0001272
22 frequent falls 33 HP:0002359
23 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 30 DAB1

Anatomical Context for Spinocerebellar Ataxia 37

MalaCards organs/tissues related to Spinocerebellar Ataxia 37:

42
Eye, Brain, Cerebellum, Spinal Cord, Cortex, Skin, Liver

Publications for Spinocerebellar Ataxia 37

Articles related to Spinocerebellar Ataxia 37:

(showing 5, show less)
# Title Authors Year
1
Mutational Mechanism for DAB1 (ATTTC)n Insertion in SCA37: ATTTT Repeat Lengthening and Nucleotide Substitution. ( 30588707 )
2018
2
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. ( 29891931 )
2018
3
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. ( 29939198 )
2018
4
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. ( 28686858 )
2017
5
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. ( 23700170 )
2013

Variations for Spinocerebellar Ataxia 37

ClinVar genetic disease variations for Spinocerebellar Ataxia 37:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 DAB1 NC_000001.10 insertion Pathogenic GRCh37 Chromosome 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 CALB1 DAB1 SNCA
2 11.32 DAB1 RELN
3 10.45 DAB1 RELN
4 10.09 DAB1 RELN

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 presynapse GO:0098793 9.26 C1QBP SNCA
2 postsynapse GO:0098794 9.16 CALB1 SNCA
3 GABA-ergic synapse GO:0098982 8.96 C1QBP CALB1
4 neuronal cell body GO:0043025 8.8 CALB1 DAB1 SNCA

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

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

Sources for Spinocerebellar Ataxia 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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