SCA29
MCID: SPN101
MIFTS: 34

Spinocerebellar Ataxia 29 (SCA29)

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 29

MalaCards integrated aliases for Spinocerebellar Ataxia 29:

Name: Spinocerebellar Ataxia 29 58 54 76 30 6 74
Spinocerebellar Ataxia Type 29 12 54 60 15
Sca29 58 54 60 76
Aplasia of Cerebellar Vermis 58 54 76
Cerebellar Vermis Aplasia 58 54 76
Acv 58 54 76
Spinocerebellar Ataxia 29, Congenital Nonprogressive 58 13
Congenital Nonprogressive Spinocerebellar Ataxia 54 60
Cnpca 58 76
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant; Cnpca 58
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant 58
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia 76
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive 41
Cerebellar Ataxia Early-Onset Nonprogressive 54
Aplasia of Cerebellar Vermis; Acv 58
Familial Aplasia of the Vermis 74

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 29
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
slow or nonprogressive


HPO:

33
spinocerebellar ataxia 29:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050978
OMIM 58 117360
MeSH 45 D020754
ICD10 via Orphanet 35 G11.0
UMLS via Orphanet 75 C1861732
Orphanet 60 ORPHA208513
MedGen 43 C1861732

Summaries for Spinocerebellar Ataxia 29

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 208513Disease definitionSpinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.EpidemiologyThe prevalence is unknown. More than 50 cases have been reported in the literature to date.Clinical descriptionSCA29 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.EtiologySCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15 (see this term).Genetic counselingSCA29 is inherited autosomal dominantly and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 29, also known as spinocerebellar ataxia type 29, is related to cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome and arima syndrome, 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). Affiliated tissues include brain and eye, and related phenotypes are dysarthria and delayed speech and language development

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 : 58 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 : 76 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 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 48
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 12)
# Related Disease Score Top Affiliating Genes
1 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.4
2 arima syndrome 11.4
3 joubert syndrome with oculorenal anomalies 11.4
4 coach syndrome 11.3
5 spinocerebellar ataxia 15 11.1
6 cerebellar hypoplasia 10.2
7 joubert syndrome 1 10.1
8 encephalocele 10.1
9 occipital encephalocele 10.1
10 ataxia and polyneuropathy, adult-onset 10.1
11 autosomal dominant cerebellar ataxia 10.1
12 mitral valve agenesis 10.1

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
4 dysmetria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001310
5 intention tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002080
6 delayed gross motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0002194
7 delayed fine motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0010862
8 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
9 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
10 delayed social development 60 33 frequent (33%) Frequent (79-30%) HP:0012434
11 dysdiadochokinesis 60 33 frequent (33%) Frequent (79-30%) HP:0002075
12 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
13 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
14 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
15 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
16 abnormal saccadic eye movements 33 frequent (33%) HP:0000570
17 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
18 visual fixation instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0025405
19 motor delay 60 33 Frequent (79-30%) HP:0001270
20 ataxia 60 Occasional (29-5%)
21 limb ataxia 33 HP:0002070
22 abnormality of saccadic eye movements 60 Frequent (79-30%)
23 broad-based gait 33 HP:0002136
24 nonprogressive cerebellar ataxia 33 HP:0002470
25 agenesis of cerebellar vermis 33 HP:0002335

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
saccadic eye movements

Neurologic Central Nervous System:
nystagmus
dysarthria
limb ataxia
dysmetria
intention tremor
more

Clinical features from OMIM:

117360

UMLS symptoms related to Spinocerebellar Ataxia 29:


ataxia, dysdiadochokinesis, action tremor

Drugs & Therapeutics for Spinocerebellar Ataxia 29

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 29

Genetic Tests for Spinocerebellar Ataxia 29

Genetic tests related to Spinocerebellar Ataxia 29:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 29 30 ITPR1

Anatomical Context for Spinocerebellar Ataxia 29

MalaCards organs/tissues related to Spinocerebellar Ataxia 29:

42
Brain, Eye

Publications for Spinocerebellar Ataxia 29

Articles related to Spinocerebellar Ataxia 29:

# Title Authors Year
1
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. ( 30429331 )
2018
2
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. ( 28659154 )
2017

Variations for Spinocerebellar Ataxia 29

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

76
# Symbol AA change Variation ID SNP ID
1 ITPR1 p.Asn602Asp VAR_069567 rs397514536
2 ITPR1 p.Val1562Met VAR_069569 rs397514535

ClinVar genetic disease variations for Spinocerebellar Ataxia 29:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPR1 NM_002222.5(ITPR1): c.800C> T (p.Thr267Met) single nucleotide variant Conflicting interpretations of pathogenicity rs797044955 GRCh37 Chromosome 3, 4687357: 4687357
2 ITPR1 NM_002222.5(ITPR1): c.800C> T (p.Thr267Met) single nucleotide variant Conflicting interpretations of pathogenicity rs797044955 GRCh38 Chromosome 3, 4645673: 4645673
3 ITPR1 NM_002222.5(ITPR1): c.830G> T (p.Ser277Ile) single nucleotide variant Likely pathogenic rs863224882 GRCh37 Chromosome 3, 4687387: 4687387
4 ITPR1 NM_002222.5(ITPR1): c.830G> T (p.Ser277Ile) single nucleotide variant Likely pathogenic rs863224882 GRCh38 Chromosome 3, 4645703: 4645703
5 ITPR1 NM_002222.5(ITPR1): c.4612G> A (p.Val1538Met) single nucleotide variant Likely pathogenic rs397514535 GRCh37 Chromosome 3, 4747877: 4747877
6 ITPR1 NM_002222.5(ITPR1): c.4612G> A (p.Val1538Met) single nucleotide variant Likely pathogenic rs397514535 GRCh38 Chromosome 3, 4706193: 4706193
7 ITPR1 NM_001168272.1(ITPR1): c.1759A> G (p.Asn587Asp) single nucleotide variant Pathogenic rs397514536 GRCh37 Chromosome 3, 4709151: 4709151
8 ITPR1 NM_001168272.1(ITPR1): c.1759A> G (p.Asn587Asp) single nucleotide variant Pathogenic rs397514536 GRCh38 Chromosome 3, 4667467: 4667467
9 ITPR1 NM_001099952.2(ITPR1): c.7640G> C (p.Gly2547Ala) single nucleotide variant Likely pathogenic rs869312685 GRCh37 Chromosome 3, 4856819: 4856819
10 ITPR1 NM_001099952.2(ITPR1): c.7640G> C (p.Gly2547Ala) single nucleotide variant Likely pathogenic rs869312685 GRCh38 Chromosome 3, 4815135: 4815135
11 ITPR1 NM_001099952.2(ITPR1): c.5360T> C (p.Leu1787Pro) single nucleotide variant Pathogenic rs1114167316 GRCh37 Chromosome 3, 4776998: 4776998
12 ITPR1 NM_001099952.2(ITPR1): c.5360T> C (p.Leu1787Pro) single nucleotide variant Pathogenic rs1114167316 GRCh38 Chromosome 3, 4735314: 4735314
13 ITPR1 NM_002222.5(ITPR1): c.805C> T (p.Arg269Trp) single nucleotide variant Pathogenic/Likely pathogenic rs886039392 GRCh37 Chromosome 3, 4687362: 4687362
14 ITPR1 NM_002222.5(ITPR1): c.805C> T (p.Arg269Trp) single nucleotide variant Pathogenic/Likely pathogenic rs886039392 GRCh38 Chromosome 3, 4645678: 4645678
15 ITPR1 NM_002222.5(ITPR1): c.3385A> G (p.Met1129Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199698357 GRCh38 Chromosome 3, 4683757: 4683757
16 ITPR1 NM_002222.5(ITPR1): c.3385A> G (p.Met1129Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199698357 GRCh37 Chromosome 3, 4725441: 4725441
17 ITPR1 NM_002222.5(ITPR1): c.2687C> T (p.Ala896Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201519806 GRCh38 Chromosome 3, 4675201: 4675201
18 ITPR1 NM_002222.5(ITPR1): c.2687C> T (p.Ala896Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201519806 GRCh37 Chromosome 3, 4716885: 4716885
19 ITPR1 NM_002222.5(ITPR1): c.3389A> G (p.Asp1130Gly) single nucleotide variant Likely benign rs61751570 GRCh38 Chromosome 3, 4683761: 4683761
20 ITPR1 NM_002222.5(ITPR1): c.3389A> G (p.Asp1130Gly) single nucleotide variant Likely benign rs61751570 GRCh37 Chromosome 3, 4725445: 4725445
21 ITPR1 NM_002222.5(ITPR1): c.736G> A (p.Glu246Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1553666546 GRCh38 Chromosome 3, 4645609: 4645609
22 ITPR1 NM_002222.5(ITPR1): c.736G> A (p.Glu246Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1553666546 GRCh37 Chromosome 3, 4687293: 4687293
23 ITPR1 NM_002222.5(ITPR1): c.4261G> A (p.Val1421Met) single nucleotide variant not provided GRCh38 Chromosome 3, 4697198: 4697198
24 ITPR1 NM_002222.5(ITPR1): c.4261G> A (p.Val1421Met) single nucleotide variant not provided GRCh37 Chromosome 3, 4738882: 4738882
25 ITPR1 NM_001168272.1(ITPR1): c.7307T> C (p.Leu2436Pro) single nucleotide variant Pathogenic rs1553756062 GRCh37 Chromosome 3, 4853028: 4853028
26 ITPR1 NM_001168272.1(ITPR1): c.7307T> C (p.Leu2436Pro) single nucleotide variant Pathogenic rs1553756062 GRCh38 Chromosome 3, 4811344: 4811344
27 ITPR1 NM_001168272.1(ITPR1): c.6304G> T (p.Ala2102Ser) single nucleotide variant Likely benign rs373973399 GRCh38 Chromosome 3, 4779607: 4779607
28 ITPR1 NM_001168272.1(ITPR1): c.4980A> C (p.Glu1660Asp) single nucleotide variant Likely benign rs1553706329 GRCh37 Chromosome 3, 4753474: 4753474
29 ITPR1 NM_001168272.1(ITPR1): c.4980A> C (p.Glu1660Asp) single nucleotide variant Likely benign rs1553706329 GRCh38 Chromosome 3, 4711790: 4711790
30 ITPR1 NM_001168272.1(ITPR1): c.4390C> T (p.His1464Tyr) single nucleotide variant Likely benign rs943946433 GRCh37 Chromosome 3, 4741524: 4741524
31 ITPR1 NM_001168272.1(ITPR1): c.4390C> T (p.His1464Tyr) single nucleotide variant Likely benign rs943946433 GRCh38 Chromosome 3, 4699840: 4699840
32 ITPR1 NM_001168272.1(ITPR1): c.1657A> G (p.Arg553Gly) single nucleotide variant Pathogenic rs1322796318 GRCh37 Chromosome 3, 4706969: 4706969
33 ITPR1 NM_001168272.1(ITPR1): c.1657A> G (p.Arg553Gly) single nucleotide variant Pathogenic rs1322796318 GRCh38 Chromosome 3, 4665285: 4665285
34 ITPR1 NM_001168272.1(ITPR1): c.1561C> T (p.Leu521Phe) single nucleotide variant Likely benign rs1553681680 GRCh38 Chromosome 3, 4665189: 4665189
35 ITPR1 NM_001168272.1(ITPR1): c.1561C> T (p.Leu521Phe) single nucleotide variant Likely benign rs1553681680 GRCh37 Chromosome 3, 4706873: 4706873
36 ITPR1 NM_001168272.1(ITPR1): c.6304G> T (p.Ala2102Ser) single nucleotide variant Likely benign rs373973399 GRCh37 Chromosome 3, 4821291: 4821291

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

Sources for Spinocerebellar Ataxia 29

3 CDC
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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