MCID: SPN290
MIFTS: 40

Spinocerebellar Ataxia 15

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

Aliases & Classifications for Spinocerebellar Ataxia 15

MalaCards integrated aliases for Spinocerebellar Ataxia 15:

Name: Spinocerebellar Ataxia 15 53 49 71 28 13 69
Sca15 53 23 49 71 51
Spinocerebellar Ataxia Type 15 12 23 49 14
Spinocerebellar Ataxia 16, Formerly; Sca16, Formerly 53
Spinocerebellar Ataxia 16, Formerly 53
Spinocerebellar Ataxia Type 16 71
Sca16, Formerly 53
Sca16 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
very slow progression
wide range of onset from childhood to adult (10 to 50 years)
most patients remain ambulatory
genetic heterogeneity, see sca1


HPO:

31
spinocerebellar ataxia 15:
Onset and clinical course adult onset slow progression juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance is unknown. based on the even segregation ratio in older generations of the known sca15 pedigrees, penetrance is likely to be high or complete in these families. the late age of onset in some cases (≤72 years) may confound attempts to establish penetrance. apparently unaffected parents of three affected sibs were reported in one japanese pedigree, although detailed information on the parents was not available [obayashi et al 2012]. based on pedigree analysis, a parent who would have been predicted to have a pathogenic variant in one of the german families died young (age 31) and was asymptomatic at the time of death, potentially concealing disease development [synofzik et al 2011]...

Classifications:



External Ids:

OMIM 53 606658
Disease Ontology 12 DOID:0050965
MeSH 41 D020754
UMLS 69 C1847725

Summaries for Spinocerebellar Ataxia 15

NIH Rare Diseases : 49 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 sca15, is related to spinocerebellar ataxia type 16 and autosomal dominant cerebellar ataxia, and has symptoms including scanning speech, gait ataxia and dysarthria. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Affiliated tissues include eye, brain and testes, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : 53 SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Heterozygous mutation in the ITPR1 gene can also cause SCA29 (117360), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment. Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by 3,4:Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (606658)

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 15: Spinocerebellar ataxia is 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. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.

GeneReviews: NBK1362

Related Diseases for Spinocerebellar Ataxia 15

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 Type 16 Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Autosomal Recessive 5

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type 16 33.2 ITPR1 SUMF1
2 autosomal dominant cerebellar ataxia 28.4 ITPR1 KCNC3 PDYN SPTBN2
3 spinocerebellar ataxia, autosomal recessive 15 11.1
4 spinocerebellar ataxia 29 10.9
5 ataxia and polyneuropathy, adult-onset 10.0
6 spinocerebellar ataxia 28 9.5 KCNC3 PDYN
7 cerebellar disease 9.2 ITPR1 PDYN SPTBN2
8 cerebral palsy, ataxic, autosomal recessive 9.2 ITPR1 KCNC3 SPTBN2
9 aceruloplasminemia 8.9 ITPR1 KCNC3 PDYN SPTBN2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 15:



Diseases related to Spinocerebellar Ataxia 15

Symptoms & Phenotypes for Spinocerebellar Ataxia 15

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
scanning speech
cerebellar ataxia
gait ataxia
action tremor
dysarthria
more
Head And Neck Eyes:
impaired smooth pursuit
dysmetric saccades
nystagmus, horizontal, gaze-evoked


Clinical features from OMIM:

606658

Human phenotypes related to Spinocerebellar Ataxia 15:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scanning speech 31 HP:0002168
2 gait ataxia 31 HP:0002066
3 dysarthria 31 HP:0001260
4 hyperreflexia 31 HP:0001347
5 limb ataxia 31 HP:0002070
6 postural tremor 31 HP:0002174
7 cerebellar atrophy 31 HP:0001272
8 truncal ataxia 31 HP:0002078
9 gaze-evoked horizontal nystagmus 31 HP:0007979
10 impaired smooth pursuit 31 HP:0007772
11 dysmetric saccades 31 HP:0000641

UMLS symptoms related to Spinocerebellar Ataxia 15:


gait ataxia, ataxia, truncal, scanning speech, static tremor, action tremor, cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 15:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ITPR1 KCNC3 PDYN SPTBN2 SUMF1
2 growth/size/body region MP:0005378 9.35 ITPR1 KCNC3 PDYN SPTBN2 SUMF1
3 nervous system MP:0003631 9.02 ITPR1 KCNC3 PDYN SPTBN2 SUMF1

Drugs & Therapeutics for Spinocerebellar Ataxia 15

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 15

Genetic Tests for Spinocerebellar Ataxia 15

Genetic tests related to Spinocerebellar Ataxia 15:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 15 28

Anatomical Context for Spinocerebellar Ataxia 15

MalaCards organs/tissues related to Spinocerebellar Ataxia 15:

38
Eye, Brain, Testes, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 15

Articles related to Spinocerebellar Ataxia 15:

# Title Authors Year
1
Spinocerebellar ataxia 15: A phenotypic review and expansion. ( 27908616 )
2016
2
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. ( 17590087 )
2007

Variations for Spinocerebellar Ataxia 15

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

71
# Symbol AA change Variation ID SNP ID
1 ITPR1 p.Pro1059Leu VAR_069568

ClinVar genetic disease variations for Spinocerebellar Ataxia 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPR1 NC_000003.12 deletion Pathogenic GRCh38 Chromosome 3, 4480596: 4793915
2 ITPR1 NM_002222.5(ITPR1): c.3176C> T (p.Pro1059Leu) single nucleotide variant Pathogenic rs121912425 GRCh37 Chromosome 3, 4725156: 4725156
3 ITPR1 NM_001168272.1(ITPR1): c.7739G> A (p.Gly2580Glu) single nucleotide variant Pathogenic rs869312685 GRCh37 Chromosome 3, 4856819: 4856819

Expression for Spinocerebellar Ataxia 15

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

Pathways for Spinocerebellar Ataxia 15

Pathways related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 ITPR1 KCNC3
2
Show member pathways
10.58 ITPR1 PDYN

GO Terms for Spinocerebellar Ataxia 15

Cellular components related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 8.62 KCNC3 SPTBN2

Sources for Spinocerebellar Ataxia 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....