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

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:

Orphanet: 59  
Rare neurological diseases


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)

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

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

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
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 17

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

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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74 UMLS via Orphanet
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