MCID: SPN421
MIFTS: 17

Spinocerebellar Ataxia 47

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

Aliases & Classifications for Spinocerebellar Ataxia 47

MalaCards integrated aliases for Spinocerebellar Ataxia 47:

Name: Spinocerebellar Ataxia 47 57 6
Sca47 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
highly variable phenotype
incomplete penetrance
two unrelated girls with early-onset and de novo mutations and have been reported (last curated april 2018)
one family with adult-onset has been reported (last curated april 2018)


Classifications:



External Ids:

OMIM 57 617931

Summaries for Spinocerebellar Ataxia 47

MalaCards based summary : Spinocerebellar Ataxia 47, is also known as sca47. An important gene associated with Spinocerebellar Ataxia 47 is PUM1 (Pumilio RNA Binding Family Member 1). Affiliated tissues include eye.

Description from OMIM: 617931

Related Diseases for Spinocerebellar Ataxia 47

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 47

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
dysarthria
chorea
dysmetria
cerebellar vermis atrophy
spinocerebellar ataxia
more
Head And Neck Mouth:
high-arched palate

Muscle Soft Tissue:
hypotonia (early-onset form)

Skeletal Hands:
small hands (early-onset form)
tapered fingers (early-onset form)
clinodactyly (early-onset form)

Head And Neck Eyes:
ptosis
almond-shaped eyes
diplopia (in some patients)

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
bitemporal narrowing
dysmorphic facial features (early-onset form, in some patients)

Growth Height:
short stature (early-onset form)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic hand movements (early-onset form)


Clinical features from OMIM:

617931

Drugs & Therapeutics for Spinocerebellar Ataxia 47

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 47

Genetic Tests for Spinocerebellar Ataxia 47

Anatomical Context for Spinocerebellar Ataxia 47

MalaCards organs/tissues related to Spinocerebellar Ataxia 47:

41
Eye

Publications for Spinocerebellar Ataxia 47

Variations for Spinocerebellar Ataxia 47

ClinVar genetic disease variations for Spinocerebellar Ataxia 47:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PUM1 PUM1, THR1035SER single nucleotide variant Pathogenic

Expression for Spinocerebellar Ataxia 47

Search GEO for disease gene expression data for Spinocerebellar Ataxia 47.

Pathways for Spinocerebellar Ataxia 47

GO Terms for Spinocerebellar Ataxia 47

Sources for Spinocerebellar Ataxia 47

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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