SCA46
MCID: SPN420
MIFTS: 26

Spinocerebellar Ataxia 46 (SCA46)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 46

MalaCards integrated aliases for Spinocerebellar Ataxia 46:

Name: Spinocerebellar Ataxia 46 57 12 72 29 6
Sca46 57 58 72
Spinocerebellar Ataxia, 46, Autosomal Dominant, with Sensory Axonal Neuropathy 57 72
Spinocerebellar Ataxia Type 46 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
adult onset (range 35 to 69 years)
one large dutch family has been reported (last curated november 2017)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 46:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080288
OMIM® 57 617770
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
Orphanet 58 ORPHA589522

Summaries for Spinocerebellar Ataxia 46

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 46: 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. SCA46 is a slowly progressive, autosomal dominant form with onset in adulthood.

MalaCards based summary : Spinocerebellar Ataxia 46, also known as sca46, is related to charcot-marie-tooth disease type 5 and charcot-marie-tooth disease. An important gene associated with Spinocerebellar Ataxia 46 is PLD3 (Phospholipase D Family Member 3). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in heterozygous mutation in the PLD3 gene on chromosome 19q13.

More information from OMIM: 617770 PS164400

Related Diseases for Spinocerebellar Ataxia 46

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 46 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 5 9.6 PRX PLD3
2 charcot-marie-tooth disease 9.6 PRX PLD3
3 charcot-marie-tooth disease, demyelinating, type 4f 9.5 PRX PLD3

Symptoms & Phenotypes for Spinocerebellar Ataxia 46

Human phenotypes related to Spinocerebellar Ataxia 46:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 dysarthria 31 HP:0001260
3 dysmetria 31 HP:0001310
4 gait ataxia 31 HP:0002066
5 positive romberg sign 31 HP:0002403
6 cerebellar atrophy 31 HP:0001272
7 limb ataxia 31 HP:0002070
8 slow saccadic eye movements 31 HP:0000514
9 sensory axonal neuropathy 31 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
slow saccades
saccadic dysmetria
square-wave jerk

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
impaired distal sensation
decreased or unobtainable amplitudes of sensory potentials
decreased density of myelinated fibers seen on sural nerve biopsy

Neurologic Central Nervous System:
dysarthria
gait ataxia
positive romberg sign
limb ataxia
cerebellar atrophy, mild

Clinical features from OMIM®:

617770 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 46

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 46

Genetic Tests for Spinocerebellar Ataxia 46

Genetic tests related to Spinocerebellar Ataxia 46:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 46 29 PLD3

Anatomical Context for Spinocerebellar Ataxia 46

MalaCards organs/tissues related to Spinocerebellar Ataxia 46:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 46

Articles related to Spinocerebellar Ataxia 46:

# Title Authors PMID Year
1
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 6 57
29053796 2017
2
A new variant of sensory ataxic neuropathy with autosomal dominant inheritance. 6 57
8595484 1995
3
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018

Variations for Spinocerebellar Ataxia 46

ClinVar genetic disease variations for Spinocerebellar Ataxia 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLD3 , PRX NM_181882.3(PRX):c.3587del (p.Gly1196fs) Deletion Pathogenic 803558 rs1317590341 GRCh37: 19:40900672-40900672
GRCh38: 19:40394765-40394765
2 PLD3 , PRX NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter) SNV Pathogenic 803559 rs964195568 GRCh37: 19:40900880-40900880
GRCh38: 19:40394973-40394973
3 PLD3 , PRX NM_181882.3(PRX):c.3198del (p.Phe1066fs) Deletion Pathogenic 637402 rs1599651549 GRCh37: 19:40901061-40901061
GRCh38: 19:40395154-40395154
4 PLD3 NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) SNV Uncertain significance 446268 rs537053537 GRCh37: 19:40880431-40880431
GRCh38: 19:40374524-40374524
5 PLD3 NM_012268.4(PLD3):c.615G>A (p.Trp205Ter) SNV Uncertain significance 983041 GRCh37: 19:40876081-40876081
GRCh38: 19:40370174-40370174
6 PLD3 , PRX NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) Microsatellite Benign 215547 rs139624657 GRCh37: 19:40900180-40900182
GRCh38: 19:40394273-40394275

Expression for Spinocerebellar Ataxia 46

Search GEO for disease gene expression data for Spinocerebellar Ataxia 46.

Pathways for Spinocerebellar Ataxia 46

GO Terms for Spinocerebellar Ataxia 46

Sources for Spinocerebellar Ataxia 46

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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