MCID: SPN420
MIFTS: 21

Spinocerebellar Ataxia 46

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 46

MalaCards integrated aliases for Spinocerebellar Ataxia 46:

Name: Spinocerebellar Ataxia 46 57 12 75 6
Spinocerebellar Ataxia, 46, Autosomal Dominant, with Sensory Axonal Neuropathy 57 75
Sca46 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617770
Disease Ontology 12 DOID:0080288
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 46

UniProtKB/Swiss-Prot : 75 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, is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy. An important gene associated with Spinocerebellar Ataxia 46 is PLD3 (Phospholipase D Family Member 3). Affiliated tissues include spinal cord, cerebellum and eye.

Description from OMIM: 617770

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, 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 46

Symptoms via clinical synopsis from OMIM:

57
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:
gait ataxia
limb ataxia
dysarthria
positive romberg sign
cerebellar atrophy, mild


Clinical features from OMIM:

617770

Drugs & Therapeutics for Spinocerebellar Ataxia 46

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 46

Genetic Tests for Spinocerebellar Ataxia 46

Anatomical Context for Spinocerebellar Ataxia 46

MalaCards organs/tissues related to Spinocerebellar Ataxia 46:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 46

Variations for Spinocerebellar Ataxia 46

ClinVar genetic disease variations for Spinocerebellar Ataxia 46:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLD3 NM_012268.3(PLD3): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs537053537 GRCh37 Chromosome 19, 40880431: 40880431
2 PLD3 NM_012268.3(PLD3): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs537053537 GRCh38 Chromosome 19, 40374524: 40374524

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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