Spinocerebellar Ataxia, Autosomal Recessive 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN298 MIFTS: 27	Spinocerebellar Ataxia, Autosomal Recessive 17 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases
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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 17

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 17:

Name: Spinocerebellar Ataxia, Autosomal Recessive 17 ⁵⁷ ²⁹ ⁶ ⁷³

Scar17 ⁵⁷ ⁵⁹ ⁷⁵

Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency ⁵⁹

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17 ⁴⁰

Spinocerebellar Ataxia Autosomal Recessive Type 17 ⁵⁹

Spinocerebellar Ataxia, Autosomal Recessive, 17 ⁷⁵

Autosomal Recessive Spinocerebellar Ataxia 17 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal recessive cerebellar ataxia due to cwf19l1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive disorder

HPO:

³²

spinocerebellar ataxia, autosomal recessive 17:
Onset and clinical course infantile onset slow progression nonprogressive
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 616127

Disease Ontology ¹² DOID:0080064

Orphanet ⁵⁹ ORPHA453521

ICD10 via Orphanet ³⁴ G11.1

MedGen ⁴² C4015301 CN225909

MeSH ⁴⁴ D002524 D013132

UMLS ⁷³ C4015301

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 17

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia, autosomal recessive, 17: Spinocerebellar ataxia defines 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. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 17, is also known as scar17, and has symptoms including tremor and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 17 is CWF19L1 (CWF19 Like 1, Cell Cycle Control (S. Pombe)). Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are oculomotor apraxia and synophrys

OMIM : ⁵⁷ Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016). (616127)

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 17

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

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 17

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
intellectual disability
dysarthria
tremor
dysmetria
truncal ataxia
more

Neurologic Peripheral Nervous System:
hyperreflexia in the lower extremities

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616127

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:

⁵⁹ ³² (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	oculomotor apraxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000657
2	synophrys ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000664
3	horizontal nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000666
4	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000750
5	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
6	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
7	dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001310
8	cerebellar vermis hypoplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001320
9	dystonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001332
10	slurred speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001350
11	gait ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002066
12	truncal ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002078
13	intention tremor ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002080
14	clumsiness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002312
15	unsteady gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002317
16	intellectual disability, moderate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002342
17	frequent falls ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002359
18	nonprogressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002470
19	babinski sign ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003487
20	infantile muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008947
21	abnormality of the distal phalanx of the thumb ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009617
22	monotonic speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0031435
23	mild microcephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0040196
24	agenesis of corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001274
25	intellectual disability ³²			HP:0001249
26	generalized hypotonia ³²			HP:0001290
27	tremor ³²			HP:0001337

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 17:

tremor, ataxia, truncal

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 17

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 17

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Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 17

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 17:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia, Autosomal Recessive 17 ²⁹	CWF19L1

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 17

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 17:

⁴¹

Spinal Cord, Cerebellum, Eye

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 17

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 17

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CWF19L1	CWF19 Like 1, Cell Cycle Control (S. Pombe)	Protein Coding	1378.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15981765 25361784 27016154 (more) 26197978

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 17

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 17:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CWF19L1	NM_018294.5(CWF19L1): c.964+1G> A	single nucleotide variant	Pathogenic	rs587780326	GRCh37	Chromosome 10, 102005555: 102005555
2	CWF19L1	NM_018294.5(CWF19L1): c.964+1G> A	single nucleotide variant	Pathogenic	rs587780326	GRCh38	Chromosome 10, 100245798: 100245798
3	CWF19L1	NM_018294.5(CWF19L1): c.946A> T (p.Lys316Ter)	single nucleotide variant	Pathogenic	rs879255653	GRCh37	Chromosome 10, 102005574: 102005574
4	CWF19L1	NM_018294.5(CWF19L1): c.946A> T (p.Lys316Ter)	single nucleotide variant	Pathogenic	rs879255653	GRCh38	Chromosome 10, 100245817: 100245817
5	CWF19L1	NM_018294.5(CWF19L1): c.467delC (p.Pro156Hisfs)	deletion	Pathogenic	rs879255654	GRCh37	Chromosome 10, 102016056: 102016056
6	CWF19L1	NM_018294.5(CWF19L1): c.467delC (p.Pro156Hisfs)	deletion	Pathogenic	rs879255654	GRCh38	Chromosome 10, 100256299: 100256299
7	CWF19L1	NM_018294.5(CWF19L1): c.1555_1557delGAG (p.Glu519del)	deletion	Uncertain significance	rs746710766	GRCh38	Chromosome 10, 100233287: 100233289
8	CWF19L1	NM_018294.5(CWF19L1): c.1555_1557delGAG (p.Glu519del)	deletion	Uncertain significance	rs746710766	GRCh37	Chromosome 10, 101993044: 101993046
9	CWF19L1	NM_018294.5(CWF19L1): c.1150G> T (p.Glu384Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 10, 101997883: 101997883
10	CWF19L1	NM_018294.5(CWF19L1): c.1150G> T (p.Glu384Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 10, 100238126: 100238126

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 17

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 17.

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 17

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 17

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Sources for Spinocerebellar Ataxia, Autosomal Recessive 17

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⁷⁶ Wikipedia