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

SCAR17 MCID: SPN298 MIFTS: 27	Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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 ⁷²

Scar17 ⁵⁷ ⁵⁹ ⁷⁴

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 ⁷⁴

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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression nonprogressive

Classifications:

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

Disease Ontology ¹² DOID:0080064

OMIM ⁵⁷ 616127 PS213200

MeSH ⁴⁴ D002524 D013132

ICD10 via Orphanet ³⁴ G11.1

Orphanet ⁵⁹ ORPHA453521

MedGen ⁴² C4015301 CN225909

UMLS ⁷² C4015301

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 17

UniProtKB/Swiss-Prot : ⁷⁴ Spinocerebellar ataxia, autosomal recessive, 17: 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. 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 Cell Cycle Control Factor 1). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and global developmental delay

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 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	Spinocerebellar Ataxia Autosomal Recessive 5

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 17

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:

⁵⁹ ³² (show all 28)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
2	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
3	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000750
4	slurred speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001350
5	gait ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002066
6	babinski sign ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003487
7	dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001310
8	intention tremor ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002080
9	dystonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001332
10	intellectual disability, moderate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002342
11	clumsiness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002312
12	truncal ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002078
13	horizontal nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000666
14	synophrys ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000664
15	oculomotor apraxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000657
16	frequent falls ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002359
17	cerebellar vermis hypoplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001320
18	monotonic speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0031435
19	unsteady gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002317
20	infantile muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008947
21	mild microcephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0040196
22	nonprogressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002470
23	abnormality of the distal phalanx of the thumb ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009617
24	agenesis of corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001274
25	intellectual disability ³²			HP:0001249
26	tremor ³²			HP:0001337
27	generalized hypotonia ³²			HP:0001290
28	cerebellar hypoplasia ³²			HP:0001321

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

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

Eye, Spinal Cord, Cerebellum

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 17

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 17:

#	Title	Authors	PMID	Year
1	Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. ⁸ ⁷¹	Evers C...Moog U	27016154	2016
2	Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. ⁸ ⁷¹	Nguyen M...Smeets HJ	26197978	2016
3	Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. ⁸ ⁷¹	Burns R...Burmeister M	25361784	2014
4	Non-progressive congenital ataxia with cerebellar hypoplasia in three families. ⁸ ⁷¹	Yapici Z...Eraksoy M	15981765	2005

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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 Cell Cycle Control Factor 1	Protein Coding	1378.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25361784 15981765 27016154 (more) 26197978
2	SNORA12	Small Nucleolar RNA, H/ACA Box 12	RNA Gene	7.76	GeneCards inferred via : Variants (show sections)

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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	GRCh37 Pos	GRCh38 Pos
1	CWF19L1	NM_018294.6(CWF19L1): c.964+1G> A	single nucleotide variant	Pathogenic	rs587780326	10:102005555-102005555	10:100245798-100245798
2	CWF19L1	NM_018294.6(CWF19L1): c.946A> T (p.Lys316Ter)	single nucleotide variant	Pathogenic	rs879255653	10:102005574-102005574	10:100245817-100245817
3	CWF19L1	NM_018294.6(CWF19L1): c.467del (p.Pro156fs)	deletion	Pathogenic	rs879255654	10:102016056-102016056	10:100256299-100256299
4	CWF19L1	NM_018294.6(CWF19L1): c.1150G> T (p.Glu384Ter)	single nucleotide variant	Likely pathogenic	rs1554902760	10:101997883-101997883	10:100238126-100238126
5	CWF19L1	NM_018294.6(CWF19L1): c.1552_1554GAG[1] (p.Glu519del)	short repeat	Uncertain significance	rs746710766	10:101993044-101993046	10:100233287-100233289

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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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⁶⁸ SNOMED-CT

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 17

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 17:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 17

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 17

Diseases in the Spinocerebellar Ataxia 2 family:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 17

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 17:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 17

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 17

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 17:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 17

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 17

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 17:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 17

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

Variations for Spinocerebellar Ataxia, Autosomal Recessive 17

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 17

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 17

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 17

Sources for Spinocerebellar Ataxia, Autosomal Recessive 17