Spinocerebellar Ataxia 37 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia 37

MalaCards integrated aliases for Spinocerebellar Ataxia 37:

Name: Spinocerebellar Ataxia 37 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ⁶ ⁷³

Sca37 ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Spinocerebellar Ataxia Type 37 ¹² ⁵⁹ ¹⁵

Spinocerebellar Ataxia with Altered Vertical Eye Movements ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615945

Disease Ontology ¹² DOID:0050984

Orphanet ⁵⁹ ORPHA363710

ICD10 via Orphanet ³⁴ G11.8

MedGen ⁴² C3889636

MeSH ⁴⁴ D020754

UMLS ⁷³ C3889636

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Summaries for Spinocerebellar Ataxia 37

UniProtKB/Swiss-Prot : ⁷⁵ 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 perrault syndrome 1 and ataxia and polyneuropathy, adult-onset, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 37 is DAB1 (DAB1, Reelin Adaptor Protein), 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 tremor and sensorineural hearing impairment

OMIM : ⁵⁷ 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)

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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, 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 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:

#	Related Disease	Score	Top Affiliating Genes
1	perrault syndrome 1	11.1
2	ataxia and polyneuropathy, adult-onset	10.3
3	autosomal dominant cerebellar ataxia	10.1
4	lissencephaly with cerebellar hypoplasia	10.0	DAB1 RELN
5	neuronal migration disorders	10.0	CALB1 RELN
6	temporal lobe epilepsy	9.9	CALB1 RELN
7	synucleinopathy	9.9	CALB1 SNCA
8	disease of mental health	9.8	RELN SNCA

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

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Symptoms & Phenotypes for Spinocerebellar Ataxia 37

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Spinocerebellar Ataxia 37:

⁵⁹ ³² (show all 22)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	tremor ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001337
2	sensorineural hearing impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000407
3	myoclonus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001336
4	falls ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002527
5	dysdiadochokinesis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002075
6	truncal ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002078
7	horizontal nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000666
8	cerebellar vermis atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006855
9	scanning speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002168
10	sensory impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003474
11	diffuse cerebellar atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100275
12	cogwheel rigidity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002396
13	limb dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002406
14	abnormal conjugate eye movement ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000549
15	nystagmus ³²	occasional (7.5%)		HP:0000639
16	ataxia ³²			HP:0001251
17	dysarthria ³²			HP:0001260
18	gait disturbance ⁵⁹		Frequent (79-30%)
19	dysphagia ³²	occasional (7.5%)		HP:0002015
20	neurological speech impairment ⁵⁹		Frequent (79-30%)
21	frequent falls ³²			HP:0002359
22	unsteady gait ³²			HP:0002317

UMLS symptoms related to Spinocerebellar Ataxia 37:

cerebellar ataxia

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Drugs & Therapeutics for Spinocerebellar Ataxia 37

Interventional clinical trials:

#	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

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Genetic Tests for Spinocerebellar Ataxia 37

Genetic tests related to Spinocerebellar Ataxia 37:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 37 ²⁹	DAB1

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Anatomical Context for Spinocerebellar Ataxia 37

MalaCards organs/tissues related to Spinocerebellar Ataxia 37:

⁴¹

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

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Publications for Spinocerebellar Ataxia 37

Articles related to Spinocerebellar Ataxia 37:

#	Title	Authors	Year
1	A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. ( 29891931 )	Loureiro JR...Silveira I	2018
2	Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. ( 29939198 )	Corral-Juan M...Matilla-Due?as A	2018

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Genes for Spinocerebellar Ataxia 37

Genes related to Spinocerebellar Ataxia 37 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DAB1	DAB1, Reelin Adaptor Protein	Protein Coding	1368.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	28686858 23700170 29939198
2	SCA37	Spinocerebellar Ataxia 37	Genetic Locus	358.33	Causative germline mutation ⁵⁹ GeneCards inferred via : Gene name (show sections)
3	RELN	Reelin	Protein Coding	15.61	DISEASES inferred ¹⁵
4	C1QBP	Complement C1q Binding Protein	Protein Coding	15.54	DISEASES inferred ¹⁵
5	SNCA	Synuclein Alpha	Protein Coding	14.15	DISEASES inferred ¹⁵
6	SAMD12	Sterile Alpha Motif Domain Containing 12	Protein Coding	7.99	DISEASES inferred ¹⁵
7	CALB1	Calbindin 1	Protein Coding	5.2	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 37

ClinVar genetic disease variations for Spinocerebellar Ataxia 37:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DAB1	DAB1, 5-BP INS, ATTTC(n)	insertion	Pathogenic

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Expression for Spinocerebellar Ataxia 37

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

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Pathways for Spinocerebellar Ataxia 37

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

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.87	CALB1 DAB1 SNCA
2	Guidance Cues and Growth Cone Motility ⁶⁴	11.32	DAB1 RELN
3	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.45	DAB1 RELN
4	Reelin signaling pathway ¹	10.09	DAB1 RELN

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GO Terms for Spinocerebellar Ataxia 37

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

#	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:

#	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

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Sources for Spinocerebellar Ataxia 37

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³³ ICD10

³⁴ ICD10 via Orphanet

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⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Spinocerebellar Ataxia 37 (SCA37)

Aliases & Classifications for Spinocerebellar Ataxia 37

MalaCards integrated aliases for Spinocerebellar Ataxia 37:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia 37

Related Diseases for Spinocerebellar Ataxia 37

Diseases in the Spinocerebellar Ataxia 2 family:

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

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

Symptoms & Phenotypes for Spinocerebellar Ataxia 37

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spinocerebellar Ataxia 37:

UMLS symptoms related to Spinocerebellar Ataxia 37:

Drugs & Therapeutics for Spinocerebellar Ataxia 37

Interventional clinical trials:

Genetic Tests for Spinocerebellar Ataxia 37

Genetic tests related to Spinocerebellar Ataxia 37:

Anatomical Context for Spinocerebellar Ataxia 37

MalaCards organs/tissues related to Spinocerebellar Ataxia 37:

Publications for Spinocerebellar Ataxia 37

Articles related to Spinocerebellar Ataxia 37:

Genes for Spinocerebellar Ataxia 37

Genes related to Spinocerebellar Ataxia 37 (2 elite genes):

Variations for Spinocerebellar Ataxia 37

ClinVar genetic disease variations for Spinocerebellar Ataxia 37:

Expression for Spinocerebellar Ataxia 37

Pathways for Spinocerebellar Ataxia 37

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

GO Terms for Spinocerebellar Ataxia 37

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

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

Sources for Spinocerebellar Ataxia 37