SCA29
MCID: SPN101
MIFTS: 32

Spinocerebellar Ataxia 29 (SCA29)

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

Aliases & Classifications for Spinocerebellar Ataxia 29

MalaCards integrated aliases for Spinocerebellar Ataxia 29:

Name: Spinocerebellar Ataxia 29 57 53 75 29 6 73
Spinocerebellar Ataxia Type 29 12 53 59 15
Sca29 57 53 59 75
Aplasia of Cerebellar Vermis 57 53 75
Cerebellar Vermis Aplasia 57 53 75
Acv 57 53 75
Spinocerebellar Ataxia 29, Congenital Nonprogressive 57 13
Congenital Nonprogressive Spinocerebellar Ataxia 53 59
Cnpca 57 75
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant; Cnpca 57
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant 57
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia 75
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive 40
Cerebellar Ataxia Early-Onset Nonprogressive 53
Aplasia of Cerebellar Vermis; Acv 57
Familial Aplasia of the Vermis 73

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 29
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
slow or nonprogressive


HPO:

32
spinocerebellar ataxia 29:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 117360
Disease Ontology 12 DOID:0050978
Orphanet 59 ORPHA208513
UMLS via Orphanet 74 C1861732
ICD10 via Orphanet 34 G11.0
MedGen 42 C1861732
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 29

NIH Rare Diseases : 53 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, action tremor and dysdiadochokinesis. 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 nystagmus and dysarthria

OMIM : 57 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 : 75 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 Type 16
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:

# Related Disease Score Top Affiliating Genes
1 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.2
2 arima syndrome 11.2
3 joubert syndrome with oculorenal anomalies 11.2
4 coach syndrome 11.1
5 spinocerebellar ataxia 15 10.9
6 autosomal dominant cerebellar ataxia 10.1
7 cerebellar hypoplasia 10.0
8 joubert syndrome 1 10.0
9 encephalocele 10.0
10 occipital encephalocele 10.0

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



Diseases related to Spinocerebellar Ataxia 29

Symptoms & Phenotypes for Spinocerebellar Ataxia 29

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia 29:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
6 delayed social development 59 32 frequent (33%) Frequent (79-30%) HP:0012434
7 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
8 dysmetria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001310
9 intention tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002080
10 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
11 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
12 motor delay 59 32 Frequent (79-30%) HP:0001270
13 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
14 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
15 delayed gross motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0002194
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 abnormality of saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000570
18 delayed fine motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0010862
19 visual fixation instability 59 32 occasional (7.5%) Occasional (29-5%) HP:0025405
20 ataxia 59 Occasional (29-5%)
21 limb ataxia 32 HP:0002070
22 broad-based gait 32 HP:0002136
23 nonprogressive cerebellar ataxia 32 HP:0002470
24 agenesis of cerebellar vermis 32 HP:0002335

UMLS symptoms related to Spinocerebellar Ataxia 29:


ataxia, action tremor, dysdiadochokinesis

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 29 ITPR1

Anatomical Context for Spinocerebellar Ataxia 29

MalaCards organs/tissues related to Spinocerebellar Ataxia 29:

41
Brain, Eye

Publications for Spinocerebellar Ataxia 29

Articles related to Spinocerebellar Ataxia 29:

# Title Authors Year
1
Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. ( 1394261 )
1992

Variations for Spinocerebellar Ataxia 29

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPR1 NM_002222.5(ITPR1): c.4612G> A (p.Val1538Met) single nucleotide variant Likely pathogenic rs397514535 GRCh37 Chromosome 3, 4747877: 4747877
2 ITPR1 NM_002222.5(ITPR1): c.4612G> A (p.Val1538Met) single nucleotide variant Likely pathogenic rs397514535 GRCh38 Chromosome 3, 4706193: 4706193
3 ITPR1 NM_001168272.1(ITPR1): c.1759A> G (p.Asn587Asp) single nucleotide variant Pathogenic rs397514536 GRCh37 Chromosome 3, 4709151: 4709151
4 ITPR1 NM_001168272.1(ITPR1): c.1759A> G (p.Asn587Asp) single nucleotide variant Pathogenic rs397514536 GRCh38 Chromosome 3, 4667467: 4667467
5 ITPR1 NM_002222.5(ITPR1): c.830G> T (p.Ser277Ile) single nucleotide variant Likely pathogenic rs863224882 GRCh37 Chromosome 3, 4687387: 4687387
6 ITPR1 NM_002222.5(ITPR1): c.830G> T (p.Ser277Ile) single nucleotide variant Likely pathogenic rs863224882 GRCh38 Chromosome 3, 4645703: 4645703
7 ITPR1 NM_001099952.2(ITPR1): c.7640G> C (p.Gly2547Ala) single nucleotide variant Likely pathogenic rs869312685 GRCh37 Chromosome 3, 4856819: 4856819
8 ITPR1 NM_001099952.2(ITPR1): c.7640G> C (p.Gly2547Ala) single nucleotide variant Likely pathogenic rs869312685 GRCh38 Chromosome 3, 4815135: 4815135
9 ITPR1 NM_001099952.2(ITPR1): c.5360T> C (p.Leu1787Pro) single nucleotide variant Pathogenic rs1114167316 GRCh37 Chromosome 3, 4776998: 4776998
10 ITPR1 NM_001099952.2(ITPR1): c.5360T> C (p.Leu1787Pro) single nucleotide variant Pathogenic rs1114167316 GRCh38 Chromosome 3, 4735314: 4735314

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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