MCID: SPN290
MIFTS: 28

Spinocerebellar Ataxia 15 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Mental diseases, Metabolic diseases, Cardiovascular diseases categories

Summaries for Spinocerebellar Ataxia 15

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NIH Rare Diseases:41 Spinocerebellar ataxia 15 (sca15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. the onset of symptoms typically occurs between ages 7 and 66 years. the ability to walk independently is often maintained for many years following onset of symptoms. sca15 is caused by mutations in the itpr1 gene. it is inherited in an autosomal dominant manner. diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. there is no effective treatment known to modify disease progression. patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.  last updated: 1/22/2013

MalaCards based summary: Spinocerebellar Ataxia 15, also known as spinocerebellar ataxia type 15, is related to myoclonus and autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency, and has symptoms including autosomal dominant inheritance, dysmetric saccades and dysarthria. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1). Affiliated tissues include eye, brain and testes.

OMIM:45 SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have... (606658) more...

GeneReviews summary for sca15

Aliases & Classifications for Spinocerebellar Ataxia 15

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Spinocerebellar Ataxia 15, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 15 45 10 41 60
Spinocerebellar Ataxia Type 15 19 41 22
Sca15 19 41 43
Spinocerebellar Ataxia Type 15/16 41
 
Spinocerebellar Ataxia 16 41
Sca15/16 41
Sca16 41


Classifications:



External Ids:

OMIM45 606658

Related Diseases for Spinocerebellar Ataxia 15

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Diseases in the Spinocerebellar Ataxia family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
spinocerebellar ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 5 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 19/22 Spinocerebellar Ataxia 9

Diseases related to Spinocerebellar Ataxia 15 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myoclonus10.3
2autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency10.3
3spinocerebellar ataxia10.2
4ataxia10.2
5spinocerebellar ataxia 29, congenital nonprogressive10.1

Graphical network of diseases related to Spinocerebellar Ataxia 15:



Diseases related to spinocerebellar ataxia 15

Symptoms for Spinocerebellar Ataxia 15

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Symptoms by clinical synopsis from OMIM:

606658

Clinical features from OMIM:

606658

HPO human phenotypes related to Spinocerebellar Ataxia 15:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dysmetric saccades HP:0000641
3 dysarthria HP:0001260
4 cerebellar atrophy HP:0001272
5 hyperreflexia HP:0001347
6 gait ataxia HP:0002066
7 limb ataxia HP:0002070
8 truncal ataxia HP:0002078
9 scanning speech HP:0002168
10 postural tremor HP:0002174
11 action tremor HP:0002345
12 adult onset HP:0003581
13 juvenile onset HP:0003621
14 slow progression HP:0003677
15 impaired smooth pursuit HP:0007772
16 gaze-evoked horizontal nystagmus HP:0007979

Drugs & Therapeutics for Spinocerebellar Ataxia 15

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia 15

Search NIH Clinical Center for Spinocerebellar Ataxia 15

Genetic Tests for Spinocerebellar Ataxia 15

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Genetic tests related to Spinocerebellar Ataxia 15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1522

Anatomical Context for Spinocerebellar Ataxia 15

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MalaCards organs/tissues related to Spinocerebellar Ataxia 15:

31
Eye, Brain, Testes

Animal Models for Spinocerebellar Ataxia 15 or affiliated genes

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Publications for Spinocerebellar Ataxia 15

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Articles related to Spinocerebellar Ataxia 15:

idTitleAuthorsYear
1
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. (17590087)
2007

Variations for Spinocerebellar Ataxia 15

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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 15:

62
id Symbol AA change Variation ID SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Clinvar genetic disease variations for Spinocerebellar Ataxia 15:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ITPR1NC_000003.12deletionPathogenicGRCh38Chr 3, 4480597: 4793914
2ITPR1NM_001168272.1(ITPR1): c.3203C> T (p.Pro1068Leu)single nucleotide variantPathogenicrs121912425GRCh37Chr 3, 4725156: 4725156

Expression for genes affiliated with Spinocerebellar Ataxia 15

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 15.

Pathways for genes affiliated with Spinocerebellar Ataxia 15

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Compounds for genes affiliated with Spinocerebellar Ataxia 15

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GO Terms for genes affiliated with Spinocerebellar Ataxia 15

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Products for genes affiliated with Spinocerebellar Ataxia 15

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Sources for Spinocerebellar Ataxia 15

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet