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SCA30
MCID: SPN102
MIFTS: 24

Spinocerebellar Ataxia 30 (SCA30)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Spinocerebellar Ataxia 30

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MalaCards integrated aliases for Spinocerebellar Ataxia 30:

Name: Spinocerebellar Ataxia 30 57 53 13 73
Spinocerebellar Ataxia Type 30 12 53 59
Sca30 57 53 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 30
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
insidious onset
slow progression
adult onset (45 to 76 years)
one family has been reported (as of 4/2010)


HPO:

32
spinocerebellar ataxia 30:
Onset and clinical course adult onset insidious onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613371
Disease Ontology 12 DOID:0050979
Orphanet 59 ORPHA211017
MESH via Orphanet 45 C537206
UMLS via Orphanet 74 C2936793
ICD10 via Orphanet 34 G11.2
MedGen 42 C2936793
UMLS 73 C2936793
Sources

Summaries for Spinocerebellar Ataxia 30

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MalaCards based summary : Spinocerebellar Ataxia 30, also known as spinocerebellar ataxia type 30, is related to perrault syndrome 1 and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 30 is SCA30 (Spinocerebellar Ataxia 30). Affiliated tissues include skin, liver and eye, and related phenotypes are dysarthria and gait ataxia

Description from OMIM: 613371
Sources

Related Diseases for Spinocerebellar Ataxia 30

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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

Diseases related to Spinocerebellar Ataxia 30 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 autosomal dominant cerebellar ataxia 11.1

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Symptoms & Phenotypes for Spinocerebellar Ataxia 30

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
ataxia, gait and appendicular
hyperreflexia, lower limbs, mild

Head And Neck Eyes:
hypermetric saccades
gaze-evoked nystagmus (1 patient)


Clinical features from OMIM:

613371

Human phenotypes related to Spinocerebellar Ataxia 30:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
3 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
4 cerebellar vermis atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006855
5 lower limb hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002395
6 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
7 ataxia 32 HP:0001251
8 cerebellar atrophy 32 HP:0001272
9 hypermetric saccades 32 HP:0007338
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Drugs & Therapeutics for Spinocerebellar Ataxia 30

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 30

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Genetic Tests for Spinocerebellar Ataxia 30

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Anatomical Context for Spinocerebellar Ataxia 30

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MalaCards organs/tissues related to Spinocerebellar Ataxia 30:

41
Skin, Liver, Eye
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Publications for Spinocerebellar Ataxia 30

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Variations for Spinocerebellar Ataxia 30

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Expression for Spinocerebellar Ataxia 30

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 30.
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Pathways for Spinocerebellar Ataxia 30

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GO Terms for Spinocerebellar Ataxia 30

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Sources for Spinocerebellar Ataxia 30

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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