SCA47
MCID: SPN421
MIFTS: 25

Spinocerebellar Ataxia 47 (SCA47)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 75 6
Sca47 57 75

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)


HPO:

32
spinocerebellar ataxia 47:
Onset and clinical course incomplete penetrance progressive


Classifications:



Summaries for Spinocerebellar Ataxia 47

UniProtKB/Swiss-Prot : 75 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, 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, spinal cord and cerebellum, and related phenotypes are clinodactyly and ptosis

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 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

Human phenotypes related to Spinocerebellar Ataxia 47:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 ptosis 32 HP:0000508
3 diplopia 32 very rare (1%) HP:0000651
4 intellectual disability 32 HP:0001249
5 seizures 32 very rare (1%) HP:0001250
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 chorea 32 HP:0002072
9 delayed speech and language development 32 HP:0000750
10 abnormal facial shape 32 HP:0001999
11 dysmetria 32 HP:0001310
12 motor delay 32 HP:0001270
13 small hand 32 HP:0200055
14 tapered finger 32 HP:0001182
15 cerebellar vermis atrophy 32 HP:0006855
16 narrow forehead 32 HP:0000341

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, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 47

Variations for Spinocerebellar Ataxia 47

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

75
# Symbol AA change Variation ID SNP ID
1 PUM1 p.Thr1033Ser VAR_080784
2 PUM1 p.Arg1137Trp VAR_080785
3 PUM1 p.Arg1145Trp VAR_080786

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

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11 DGIdb
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19 FMA
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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