SCA47
MCID: SPN421
MIFTS: 27

Spinocerebellar Ataxia 47 (SCA47)

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 47

MalaCards integrated aliases for Spinocerebellar Ataxia 47:

Name: Spinocerebellar Ataxia 47 57 72 29 6
Sca47 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
progressive disorder
highly variable phenotype
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)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 47:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive incomplete penetrance


Classifications:



Summaries for Spinocerebellar Ataxia 47

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 47: 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. SCA47 is an autosomal dominant disease with a highly variable phenotype and incomplete penetrance. Clinical features include developmental disability, ataxia, and seizures.

MalaCards based summary : Spinocerebellar Ataxia 47, also known as sca47, is related to cerebellar ataxia type 47 and pum1-associated developmental disability-ataxia-seizure syndrome. An important gene associated with Spinocerebellar Ataxia 47 is PUM1 (Pumilio RNA Binding Family Member 1). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are diplopia and seizure

More information from OMIM: 617931 PS164400

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 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 47 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia type 47 11.0
2 pum1-associated developmental disability-ataxia-seizure syndrome 11.0

Symptoms & Phenotypes for Spinocerebellar Ataxia 47

Human phenotypes related to Spinocerebellar Ataxia 47:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 diplopia 31 very rare (1%) HP:0000651
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 ptosis 31 HP:0000508
6 dysarthria 31 HP:0001260
7 high palate 31 HP:0000218
8 chorea 31 HP:0002072
9 wide nasal bridge 31 HP:0000431
10 delayed speech and language development 31 HP:0000750
11 abnormal facial shape 31 HP:0001999
12 short stature 31 HP:0004322
13 low-set ears 31 HP:0000369
14 motor delay 31 HP:0001270
15 dysmetria 31 HP:0001310
16 small hand 31 HP:0200055
17 tapered finger 31 HP:0001182
18 generalized hypotonia 31 HP:0001290
19 cerebellar vermis atrophy 31 HP:0006855
20 clinodactyly 31 HP:0030084
21 narrow forehead 31 HP:0000341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
almond-shaped eyes
diplopia (in some patients)

Head And Neck Ears:
low-set ears

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)

Neurologic Central Nervous System:
dysarthria
chorea
dysmetria
cerebellar vermis atrophy
seizures (in some patients)
more
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 47

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 47

Genetic Tests for Spinocerebellar Ataxia 47

Genetic tests related to Spinocerebellar Ataxia 47:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 47 29 PUM1

Anatomical Context for Spinocerebellar Ataxia 47

MalaCards organs/tissues related to Spinocerebellar Ataxia 47:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 47

Articles related to Spinocerebellar Ataxia 47:

# Title Authors PMID Year
1
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 6 57
29474920 2018
2
Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. 57
25768905 2015
3
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. 61
31422002 2019

Variations for Spinocerebellar Ataxia 47

ClinVar genetic disease variations for Spinocerebellar Ataxia 47:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PUM1 NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter) SNV Pathogenic 1031839 GRCh37: 1:31414937-31414937
GRCh38: 1:30942090-30942090
2 PUM1 NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) SNV Pathogenic/Likely pathogenic 617918 rs1557539450 GRCh37: 1:31406186-31406186
GRCh38: 1:30933339-30933339
3 PUM1 NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) SNV Likely pathogenic 617924 rs771145682 GRCh37: 1:31414862-31414862
GRCh38: 1:30942015-30942015
4 PUM1 NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr) SNV Likely pathogenic 984948 GRCh37: 1:31532368-31532368
GRCh38: 1:31059521-31059521
5 PUM1 NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp) SNV Likely pathogenic 617929 rs1557541619 GRCh37: 1:31409510-31409510
GRCh38: 1:30936663-30936663
6 PUM1 NM_001020658.2(PUM1):c.1773del (p.Ser592fs) Deletion Likely pathogenic 929062 GRCh37: 1:31440030-31440030
GRCh38: 1:30967183-30967183
7 PUM1 NM_001020658.2(PUM1):c.364G>A (p.Val122Met) SNV Uncertain significance 975976 GRCh37: 1:31501711-31501711
GRCh38: 1:31028864-31028864
8 PUM1 NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys) SNV Uncertain significance 984641 GRCh37: 1:31409642-31409642
GRCh38: 1:30936795-30936795
9 PUM1 NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) SNV Uncertain significance 1030027 GRCh37: 1:31447560-31447560
GRCh38: 1:30974713-30974713
10 PUM1 NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met) SNV Uncertain significance 1012176 GRCh37: 1:31426593-31426593
GRCh38: 1:30953746-30953746
11 PUM1 NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe) SNV not provided 973000 GRCh37: 1:31426747-31426747
GRCh38: 1:30953900-30953900

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 47:

72
# Symbol AA change Variation ID SNP ID
1 PUM1 p.Thr1033Ser VAR_080784 rs771145682
2 PUM1 p.Arg1137Trp VAR_080785 rs155754161
3 PUM1 p.Arg1145Trp VAR_080786 rs155753945

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 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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