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

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:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080064
ICD10 via Orphanet 34 G11.1
Orphanet 59 ORPHA453521
UMLS 72 C4015301

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)

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

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

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 17

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

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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 17

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

41
Eye, Spinal Cord, Cerebellum

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
27016154 2016
2
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. 8 71
26197978 2016
3
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. 8 71
25361784 2014
4
Non-progressive congenital ataxia with cerebellar hypoplasia in three families. 8 71
15981765 2005

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 17

Search GEO for disease gene expression data 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

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