SCA29
MCID: SPN101
MIFTS: 42

Spinocerebellar Ataxia 29 (SCA29)

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 29

MalaCards integrated aliases for Spinocerebellar Ataxia 29:

Name: Spinocerebellar Ataxia 29 56 52 73 71
Spinocerebellar Ataxia Type 29 12 52 58 29 6 15
Sca29 56 52 58 73
Spinocerebellar Ataxia 29, Congenital Nonprogressive 56 29 13
Aplasia of Cerebellar Vermis 56 52 73
Cerebellar Vermis Aplasia 56 52 73
Acv 56 52 73
Congenital Nonprogressive Spinocerebellar Ataxia 52 58
Cnpca 56 73
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant; Cnpca 56
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant 56
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia 73
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive 39
Cerebellar Ataxia Early-Onset Nonprogressive 52
Aplasia of Cerebellar Vermis; Acv 56
Familial Aplasia of the Vermis 71

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 29
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
slow or nonprogressive


HPO:

31
spinocerebellar ataxia 29:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050978
OMIM 56 117360
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
ICD10 via Orphanet 33 G11.0
UMLS via Orphanet 72 C1861732
Orphanet 58 ORPHA208513
MedGen 41 C1861732
UMLS 71 C0431399 C1861732

Summaries for Spinocerebellar Ataxia 29

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 208513 Definition An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria , oculomotor abnormalities and intellectual disability . Epidemiology Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More than 50 cases have been reported in the literature to date. Clinical description SCA29 presents at birth, or shortly after, with manifestations including very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay , learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus , dysarthria, dysmetria, and dysdiadochokinesia. Affected patients occasionally present with intention tremor, dystonia , and migraine headaches. Although the disease course is not well established, it appears to range from non-progressive or very slowly progressive ataxia (that does not affect ambulation) to progressively disabling ataxia. A slight improvement in cerebellar signs has been reported in some cases over time. Etiology SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is also the causal gene of SCA15. Diagnostic methods Diagnosis is based on the characteristic clinical findings and molecular genetic testing . As the manifestations of SCA29 are not specific, diagnosis is only confirmed with the finding of a mutation in the ITPR1 gene. Differential diagnosis Differential diagnosis includes other types of autosomal dominant cerebellar ataxia. Antenatal diagnosis Antenatal diagnosis is possible in families with a known mutation. Genetic counseling SCA29 is inherited autosomal dominantly, occasionally autosomal recessively, and genetic counseling is possible. Management and treatment There is no cure for SCA29 and treatment is supportive. Annual neurological examinations are recommended to monitor disease progression. Prognosis Disease progression is very slow, but precise prognosis is unknown. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 29, also known as spinocerebellar ataxia type 29, is related to spinocerebellar ataxia 15 and autosomal dominant cerebellar ataxia, and has symptoms including ataxia, dysdiadochokinesis and action tremor. An important gene associated with Spinocerebellar Ataxia 29 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Integration of energy metabolism and Regulation of actin dynamics for phagocytic cup formation. Affiliated tissues include brain, testes and eye, and related phenotypes are delayed speech and language development and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has material basis in mutation in the ITPR1 gene.

OMIM : 56 Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). Heterozygous mutation in the ITPR1 gene also causes SCA15 (606658), which is distinguished by later age at onset and normal cognition. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (117360)

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 29: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.

Related Diseases for Spinocerebellar Ataxia 29

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 15 31.8 ITPR1 AFG3L2
2 autosomal dominant cerebellar ataxia 29.2 NOP56 ITPR1 AFG3L2
3 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.5
4 arima syndrome 11.7
5 coach syndrome 11.4
6 cerebellar hypoplasia 10.3
7 joubert syndrome 1 10.1
8 dandy-walker syndrome 10.1
9 pathologic nystagmus 10.1
10 encephalocele 10.1
11 hydromyelia 10.1
12 occipital encephalocele 10.1
13 strabismus 10.1
14 glycogen storage disease vii 10.1
15 myopathy 10.1
16 mechanical strabismus 10.1
17 ataxia and polyneuropathy, adult-onset 10.1
18 hypotonia 10.1
19 cerebral palsy, ataxic, autosomal recessive 9.6 ITPR1 AHCYL1
20 episodic ataxia 9.4 ITPR1 AFG3L2
21 spinocerebellar ataxia 30 9.4 NOP56 ITPR1 AFG3L2
22 cerebellar disease 9.4 NOP56 ITPR1 AFG3L2
23 hereditary ataxia 9.3 NOP56 ITPR1 AFG3L2
24 gillespie syndrome 9.3 ITPR1 CA8 AHCYL1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 29:



Diseases related to Spinocerebellar Ataxia 29

Symptoms & Phenotypes for Spinocerebellar Ataxia 29

Human phenotypes related to Spinocerebellar Ataxia 29:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 dysmetria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001310
4 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
5 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
6 intention tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002080
7 delayed fine motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0010862
8 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 delayed social development 58 31 frequent (33%) Frequent (79-30%) HP:0012434
11 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
16 abnormal saccadic eye movements 31 frequent (33%) HP:0000570
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 visual fixation instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0025405
19 motor delay 58 31 Frequent (79-30%) HP:0001270
20 ataxia 58 Occasional (29-5%)
21 broad-based gait 31 HP:0002136
22 abnormality of saccadic eye movements 58 Frequent (79-30%)
23 limb ataxia 31 HP:0002070
24 agenesis of cerebellar vermis 31 HP:0002335
25 nonprogressive cerebellar ataxia 31 HP:0002470

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
saccadic eye movements

Neurologic Central Nervous System:
nystagmus
dysarthria
dysmetria
dysdiadochokinesis
broad-based gait
more

Clinical features from OMIM:

117360

UMLS symptoms related to Spinocerebellar Ataxia 29:


ataxia, dysdiadochokinesis, action tremor

Drugs & Therapeutics for Spinocerebellar Ataxia 29

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 29

Genetic Tests for Spinocerebellar Ataxia 29

Genetic tests related to Spinocerebellar Ataxia 29:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 29 29 ITPR1
2 Spinocerebellar Ataxia 29, Congenital Nonprogressive 29

Anatomical Context for Spinocerebellar Ataxia 29

MalaCards organs/tissues related to Spinocerebellar Ataxia 29:

40
Brain, Testes, Eye

Publications for Spinocerebellar Ataxia 29

Articles related to Spinocerebellar Ataxia 29:

(show all 21)
# Title Authors PMID Year
1
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 56 6 61
22986007 2012
2
De novo point mutations in patients diagnosed with ataxic cerebral palsy. 56 6
25981959 2015
3
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. 56 6
15623688 2004
4
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
5
Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia. 56
17101914 2006
6
Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1. 56
15940696 2005
7
Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor. 56
11334652 2001
8
Hereditary Ataxia Overview 6
20301317 1998
9
Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. 56
8279653 1993
10
Dominantly inherited hypoplasia of the vermis. 56
1407388 1992
11
An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome. 56
2002196 1991
12
Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance. 56
2469415 1989
13
Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis. 56
3334022 1987
14
Infantile cerebellar atrophy. 56
4004161 1985
15
Primary position vertical nystagmus and cerebellar ataxia. 56
6847426 1983
16
Spinocerebellar Ataxia type 29 in a family of Māori descent. 61
31632679 2019
17
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. 61
30429331 2018
18
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 61
29925855 2018
19
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns. 61
28620721 2017
20
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. 61
28659154 2017
21
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. 61
25794864 2015

Variations for Spinocerebellar Ataxia 29

ClinVar genetic disease variations for Spinocerebellar Ataxia 29:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPR1 NM_002222.6(ITPR1):c.1657A>G (p.Arg553Gly)SNV Pathogenic 503523 rs1322796318 3:4706969-4706969 3:4665285-4665285
2 ITPR1 NM_002222.6(ITPR1):c.7163T>C (p.Leu2388Pro)SNV Pathogenic 503525 rs1553756062 3:4853028-4853028 3:4811344-4811344
3 ITPR1 NM_002222.6(ITPR1):c.1759A>G (p.Asn587Asp)SNV Pathogenic 39572 rs397514536 3:4709151-4709151 3:4667467-4667467
4 ITPR1 NM_001099952.3(ITPR1):c.5360T>C (p.Leu1787Pro)SNV Pathogenic 253023 rs1114167316 3:4776998-4776998 3:4735314-4735314
5 ITPR1 NM_002222.6(ITPR1):c.805C>T (p.Arg269Trp)SNV Pathogenic/Likely pathogenic 265201 rs886039392 3:4687362-4687362 3:4645678-4645678
6 ITPR1 NM_002222.6(ITPR1):c.4612G>A (p.Val1538Met)SNV Pathogenic/Likely pathogenic 39571 rs397514535 3:4747877-4747877 3:4706193-4706193
7 ITPR1 NM_002222.6(ITPR1):c.830G>T (p.Ser277Ile)SNV Likely pathogenic 216945 rs863224882 3:4687387-4687387 3:4645703-4645703
8 ITPR1 NM_001099952.3(ITPR1):c.7640G>C (p.Gly2547Ala)SNV Likely pathogenic 243076 rs869312685 3:4856819-4856819 3:4815135-4815135
9 ITPR1 NM_002222.6(ITPR1):c.3385A>G (p.Met1129Val)SNV Conflicting interpretations of pathogenicity 345726 rs199698357 3:4725441-4725441 3:4683757-4683757
10 ITPR1 NM_002222.6(ITPR1):c.800C>T (p.Thr267Met)SNV Conflicting interpretations of pathogenicity 208786 rs797044955 3:4687357-4687357 3:4645673-4645673
11 ITPR1 NM_002222.6(ITPR1):c.6160G>T (p.Ala2054Ser)SNV Conflicting interpretations of pathogenicity 503524 rs373973399 3:4821291-4821291 3:4779607-4779607
12 ITPR1 NM_002222.6(ITPR1):c.736G>A (p.Glu246Lys)SNV Conflicting interpretations of pathogenicity 453136 rs1553666546 3:4687293-4687293 3:4645609-4645609
13 ITPR1 NM_001168272.1(ITPR1):c.3619G>A (p.Ala1207Thr)SNV Uncertain significance 447584 rs372881053 3:4726852-4726852 3:4685168-4685168
14 ITPR1 NM_002222.6(ITPR1):c.7459G>A (p.Gly2487Arg)SNV Uncertain significance 520945 rs1553757628 3:4856193-4856193 3:4814509-4814509
15 ITPR1 NM_002222.6(ITPR1):c.6017A>G (p.Asn2006Ser)SNV Uncertain significance 801924 3:4818973-4818973 3:4777289-4777289
16 ITPR1 NM_001168272.1(ITPR1):c.2761G>A (p.Gly921Ser)SNV Uncertain significance 623657 rs1559671950 3:4718324-4718324 3:4676640-4676640
17 ITPR1 NM_002222.6(ITPR1):c.1561C>T (p.Leu521Phe)SNV Likely benign 503528 rs1553681680 3:4706873-4706873 3:4665189-4665189
18 ITPR1 NM_002222.6(ITPR1):c.4363C>T (p.His1455Tyr)SNV Likely benign 503526 rs943946433 3:4741524-4741524 3:4699840-4699840
19 ITPR1 NM_002222.6(ITPR1):c.4953A>C (p.Glu1651Asp)SNV Likely benign 503527 rs1553706329 3:4753474-4753474 3:4711790-4711790
20 ITPR1 NM_002222.6(ITPR1):c.2687C>T (p.Ala896Val)SNV Likely benign 345716 rs201519806 3:4716885-4716885 3:4675201-4675201
21 ITPR1 NM_002222.6(ITPR1):c.3389A>G (p.Asp1130Gly)SNV Benign/Likely benign 345727 rs61751570 3:4725445-4725445 3:4683761-4683761
22 ITPR1 NM_002222.6(ITPR1):c.4335+44GT[18]short repeat Benign 801923 3:4739000-4739001 3:4697316-4697317
23 ITPR1 NM_002222.6(ITPR1):c.1962G>A (p.Lys654=)SNV Benign 129298 rs2306875 3:4712413-4712413 3:4670729-4670729
24 ITPR1 NM_002222.6(ITPR1):c.4261G>A (p.Val1421Met)SNV not provided 585154 rs1559718601 3:4738882-4738882 3:4697198-4697198

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 29:

73
# Symbol AA change Variation ID SNP ID
1 ITPR1 p.Asn602Asp VAR_069567 rs397514536
2 ITPR1 p.Val1562Met VAR_069569 rs397514535

Expression for Spinocerebellar Ataxia 29

Search GEO for disease gene expression data for Spinocerebellar Ataxia 29.

Pathways for Spinocerebellar Ataxia 29

GO Terms for Spinocerebellar Ataxia 29

Biological processes related to Spinocerebellar Ataxia 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac conduction GO:1903779 9.16 ITPR1 AHCYL1
2 one-carbon metabolic process GO:0006730 8.96 CA8 AHCYL1
3 epithelial fluid transport GO:0042045 8.62 ITPR1 AHCYL1

Sources for Spinocerebellar Ataxia 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
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34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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