SCA29
MCID: SPN101
MIFTS: 58

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 57 20 72 70
Spinocerebellar Ataxia Type 29 12 20 58 29 6 15
Cerebellar Vermis Aplasia 57 20 72 6
Sca29 57 20 58 72
Spinocerebellar Ataxia 29, Congenital Nonprogressive 57 29 13
Aplasia of Cerebellar Vermis 57 20 72
Acv 57 20 72
Congenital Nonprogressive Spinocerebellar Ataxia 20 58
Cnpca 57 72
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant; Cnpca 57
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant 57
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia 72
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive 39
Cerebellar Ataxia Early-Onset Nonprogressive 20
Aplasia of Cerebellar Vermis; Acv 57
Familial Aplasia of the Vermis 70

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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® 57 117360
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.0
UMLS via Orphanet 71 C1861732
Orphanet 58 ORPHA208513
MedGen 41 C1861732
UMLS 70 C0431399 C1861732

Summaries for Spinocerebellar Ataxia 29

GARD : 20 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.

MalaCards based summary : Spinocerebellar Ataxia 29, also known as spinocerebellar ataxia type 29, is related to arima syndrome and coach syndrome 1, 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 Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, liver and kidney, 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® : 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 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 top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 arima syndrome 32.4 TMEM237 TMEM216 CEP290 CC2D2A C12orf29
2 coach syndrome 1 30.7 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L OFD1
3 pathologic nystagmus 30.4 TMEM67 MKS1 CEP290
4 cerebellar hypoplasia 30.3 TMEM67 RPGRIP1L ITPR1
5 encephalocele 30.2 TMEM67 MKS1 CPLANE1 CEP290 CC2D2A B9D2
6 joubert syndrome 1 28.5 TOGARAM1 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L
7 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.3
8 spinocerebellar ataxia 15 10.9
9 orofaciodigital syndrome i 10.4 OFD1 CEP290
10 senior-loken syndrome 6 10.4 CEP290 C12orf29
11 retinal aplasia 10.4 CEP290 C12orf29
12 retinal ciliopathy 10.4 INPP5E CEP290
13 simpson-golabi-behmel syndrome, type 2 10.3 OFD1 CEP290
14 orofaciodigital syndrome v 10.3 OFD1 CPLANE1 C2CD3
15 familial clubfoot with or without associated lower limb anomalies 10.3 INPP5E CC2D2A
16 bardet-biedl syndrome 6 10.3 RPGRIP1L MKS1 CEP290
17 joubert syndrome 15 10.3 TMEM237 RPGRIP1L CC2D2A
18 renal dysplasia, cystic 10.3 INPP5E CEP290
19 bardet-biedl syndrome 11 10.3 RPGRIP1L MKS1 CEP290
20 nephronophthisis 16 10.3 TMEM67 RPGRIP1L CEP290
21 cogan syndrome 10.3 RPGRIP1L CEP290 CC2D2A AHI1
22 acrocallosal syndrome 10.3 TMEM216 RPGRIP1L AHI1
23 leber congenital amaurosis 6 10.3 MKS1 CEP290
24 nephronophthisis 1 10.3 MKS1 B9D2 B9D1 AHI1
25 oligohydramnios 10.3 TMEM67 MKS1 CC2D2A
26 bardet-biedl syndrome 13 10.3 MKS1 CEP290
27 congenital hepatic fibrosis 10.3 TMEM67 RPGRIP1L CC2D2A AHI1
28 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2 INPP5E CC2D2A
29 bardet-biedl syndrome 1 10.2 TMEM67 TMEM216 MKS1 CEP290
30 nephronophthisis 12 10.2 TMEM237 RPGRIP1L CEP290 B9D2
31 joubert syndrome 24 10.2 RPGRIP1L CEP290 B9D1 AHI1
32 cohen syndrome 10.2 MKS1 INPP5E CEP290 C12orf29
33 cone dystrophy 10.2 INPP5E CEP290 CC2D2A AHI1
34 leber congenital amaurosis 10 10.2 CEP290 C12orf29
35 cystic kidney disease 10.2 TMEM67 OFD1 MKS1 CEP290 CC2D2A
36 physical disorder 10.2 TMEM67 OFD1 MKS1 CEP290
37 ellis-van creveld syndrome 10.2 TMEM216 RPGRIP1L OFD1 CEP290
38 orofaciodigital syndrome iv 10.2 TMEM216 OFD1 CPLANE1 C2CD3
39 joubert syndrome 14 10.2 TMEM237 TMEM216 B9D2 B9D1
40 apraxia 10.2 TMEM67 CPLANE1 CEP290 CC2D2A AHI1
41 johanson-blizzard syndrome 10.2 TMEM216 RPGRIP1L CPLANE1 CEP290 CC2D2A
42 juvenile nephronophthisis 10.2 TMEM67 CPLANE1 CEP290 C12orf29 AHI1
43 nephronophthisis 11 10.2 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
44 ciliopathy 10.1 TMEM67 RPGRIP1L CEP290 CC2D2A C2CD3
45 nephronophthisis 7 10.1 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A AHI1
46 strabismus 10.1
47 glycogen storage disease vii 10.1
48 myopathy 10.1
49 mechanical strabismus 10.1
50 joubert syndrome 10 10.1 TMEM67 TMEM216 RPGRIP1L OFD1 CC2D2A AHI1

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 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
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 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
9 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
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 58 31 frequent (33%) Frequent (79-30%) 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 limb ataxia 31 HP:0002070
23 agenesis of cerebellar vermis 31 HP:0002335
24 nonprogressive cerebellar ataxia 31 HP:0002470

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia 29:


ataxia; dysdiadochokinesis; action tremor

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 29:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 AHI1 B9D1 B9D2 C2CD3 CBY1 CC2D2A
2 growth/size/body region MP:0005378 10.36 AHI1 B9D1 B9D2 C2CD3 CBY1 CC2D2A
3 embryo MP:0005380 10.32 B9D1 B9D2 C2CD3 CBY1 CC2D2A CPLANE1
4 cardiovascular system MP:0005385 10.31 B9D1 B9D2 C2CD3 CC2D2A CEP290 CPLANE1
5 mortality/aging MP:0010768 10.28 AHI1 B9D1 B9D2 C2CD3 CBY1 CC2D2A
6 craniofacial MP:0005382 10.25 B9D1 B9D2 CC2D2A CEP290 CPLANE1 INPP5E
7 digestive/alimentary MP:0005381 10.15 B9D1 B9D2 CC2D2A CPLANE1 INPP5E MKS1
8 limbs/digits/tail MP:0005371 10.14 B9D1 B9D2 C2CD3 CC2D2A CPLANE1 INPP5E
9 nervous system MP:0003631 10.13 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
10 integument MP:0010771 10.03 B9D1 B9D2 CBY1 CC2D2A INPP5E MKS1
11 liver/biliary system MP:0005370 9.91 B9D1 B9D2 CEP290 INPP5E MKS1 RPGRIP1L
12 renal/urinary system MP:0005367 9.9 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
13 respiratory system MP:0005388 9.56 B9D2 CBY1 CC2D2A CEP290 CPLANE1 MKS1
14 vision/eye MP:0005391 9.36 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1

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
Eye, Liver, Kidney, Heart

Publications for Spinocerebellar Ataxia 29

Articles related to Spinocerebellar Ataxia 29:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. 61 6 57
22986007 2012
2
De novo point mutations in patients diagnosed with ataxic cerebral palsy. 57 6
25981959 2015
3
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. 57 6
15623688 2004
4
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 6 61
29925855 2018
5
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. 61 6
28659154 2017
6
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. 6
32453716 2020
7
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 6
30267408 2019
8
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
9
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate. 6
30202406 2018
10
Genetic obesity: next-generation sequencing results of 1230 patients with obesity. 6
29970488 2018
11
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290. 6
30193310 2018
12
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 6
29398085 2018
13
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. 6
29844330 2018
14
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 6
29588463 2018
15
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. 6
29343940 2018
16
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
17
Defective ciliogenesis in INPP5E-related Joubert syndrome. 6
29052317 2017
18
Prospective Evaluation of Kidney Disease in Joubert Syndrome. 6
29146704 2017
19
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies. 6
28973549 2017
20
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 6
29138412 2017
21
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders. 6
29230161 2017
22
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 6
29186038 2017
23
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
24
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
25
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. 6
28829391 2017
26
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. 6
28625504 2017
27
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 6
28497568 2017
28
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 6
28679688 2017
29
Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. 6
28660274 2017
30
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 6
28289185 2017
31
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. 6
28510626 2017
32
Diagnostic exome sequencing in 266 Dutch patients with visual impairment. 6
28224992 2017
33
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 6
28431631 2017
34
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. 6
28453600 2017
35
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 6
27848944 2017
36
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 6
28181551 2017
37
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 6
28157192 2017
38
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 6
28719906 2017
39
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 6
27062503 2017
40
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 6
27570071 2016
41
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. 6
27821535 2016
42
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 6
27422788 2016
43
Characterizing the morbid genome of ciliopathies. 6
27894351 2016
44
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 6
27491411 2016
45
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 6
27377014 2016
46
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 6
27353947 2016
47
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. 6
26862157 2016
48
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 6
26673778 2016
49
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 6
26489029 2016
50
Joubert syndrome: genotyping a Northern European patient cohort. 6
25920555 2016

Variations for Spinocerebellar Ataxia 29

ClinVar genetic disease variations for Spinocerebellar Ataxia 29:

6 (show top 50) (show all 2388)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITPR1 NM_002222.6(ITPR1):c.4612G>A (p.Val1538Met) SNV Pathogenic 39571 rs397514535 GRCh37: 3:4747877-4747877
GRCh38: 3:4706193-4706193
2 ITPR1 NM_002222.6(ITPR1):c.1759A>G (p.Asn587Asp) SNV Pathogenic 39572 rs397514536 GRCh37: 3:4709151-4709151
GRCh38: 3:4667467-4667467
3 MKS1 NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) SNV Pathogenic 188334 rs786204222 GRCh37: 17:56294055-56294055
GRCh38: 17:58216694-58216694
4 TCTN2 NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) SNV Pathogenic 189247 rs786204788 GRCh37: 12:124191380-124191380
GRCh38: 12:123706833-123706833
5 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) Duplication Pathogenic 188192 rs778149316 GRCh37: 16:53686889-53686890
GRCh38: 16:53652977-53652978
6 CEP290 NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) Deletion Pathogenic 216126 rs863224523 GRCh37: 12:88480193-88480194
GRCh38: 12:88086416-88086417
7 CC2D2A NM_001080522.2(CC2D2A):c.1017+1G>A SNV Pathogenic 166801 rs200407856 GRCh37: 4:15517628-15517628
GRCh38: 4:15516005-15516005
8 TMEM67 NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) SNV Pathogenic 216826 rs775883520 GRCh37: 8:94792831-94792831
GRCh38: 8:93780603-93780603
9 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) SNV Pathogenic 747 rs386833750 GRCh37: 4:15565108-15565108
GRCh38: 4:15563485-15563485
10 CEP290 NM_025114.4(CEP290):c.1451del (p.Lys484fs) Deletion Pathogenic 56730 rs386834149 GRCh37: 12:88513962-88513962
GRCh38: 12:88120185-88120185
11 INPP5E NM_019892.6(INPP5E):c.1760del (p.Val587fs) Deletion Pathogenic 217656 rs775518991 GRCh37: 9:139324771-139324771
GRCh38: 9:136430319-136430319
12 TCTN2 NM_024809.5(TCTN2):c.76dup (p.Asp26fs) Duplication Pathogenic 217700 rs863225222 GRCh37: 12:124155857-124155858
GRCh38: 12:123671310-123671311
13 INPP5E NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) SNV Pathogenic 217659 rs863225200 GRCh37: 9:139327612-139327612
GRCh38: 9:136433160-136433160
14 TMEM237 NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) SNV Pathogenic 31180 rs199469707 GRCh37: 2:202505638-202505638
GRCh38: 2:201640915-201640915
15 INPP5E NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) SNV Pathogenic 399 rs121918129 GRCh37: 9:139327014-139327014
GRCh38: 9:136432562-136432562
16 MKS1 NM_001165927.1(MKS1):c.351del (p.Tyr118fs) Deletion Pathogenic 217676 rs863225206 GRCh37: 17:56293485-56293485
GRCh38: 17:58216124-58216124
17 MKS1 NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) Duplication Pathogenic 217673 rs863225204 GRCh37: 17:56283703-56283704
GRCh38: 17:58206342-58206343
18 MKS1 NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) SNV Pathogenic 217679 rs863225208 GRCh37: 17:56288349-56288349
GRCh38: 17:58210988-58210988
19 TCTN2 NM_024809.5(TCTN2):c.76del (p.Asp26fs) Deletion Pathogenic 217701 rs863225222 GRCh37: 12:124155858-124155858
GRCh38: 12:123671311-123671311
20 TCTN2 NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) SNV Pathogenic 217698 rs201010803 GRCh37: 12:124189217-124189217
GRCh38: 12:123704670-123704670
21 B9D2 NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) SNV Pathogenic 217557 rs757863670 GRCh37: 19:41863909-41863909
GRCh38: 19:41358004-41358004
22 C2CD3 NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) SNV Pathogenic 144038 rs587777653 GRCh37: 11:73879530-73879530
GRCh38: 11:74168485-74168485
23 INPP5E NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) SNV Pathogenic 217654 rs863225197 GRCh37: 9:139324847-139324847
GRCh38: 9:136430395-136430395
24 MKS1 NM_017777.4(MKS1):c.417G>A (p.Glu139=) SNV Pathogenic 1392 rs386834048 GRCh37: 17:56293449-56293449
GRCh38: 17:58216088-58216088
25 MKS1 NM_001165927.1(MKS1):c.232-179_232-37del Deletion Pathogenic 217674 rs1555600644 GRCh37: 17:56293641-56293783
GRCh38: 17:58216280-58216422
26 INPP5E NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) SNV Pathogenic 217663 rs863225201 GRCh37: 9:139327525-139327525
GRCh38: 9:136433073-136433073
27 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) Deletion Pathogenic 217677 rs754279998 GRCh37: 17:56285514-56285516
GRCh38: 17:58208153-58208155
28 MKS1 NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) Insertion Pathogenic 217680 rs863225209 GRCh37: 17:56290433-56290434
GRCh38: 17:58213072-58213073
29 TCTN2 NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) SNV Pathogenic 217696 rs187433682 GRCh37: 12:124179406-124179406
GRCh38: 12:123694859-123694859
30 INPP5E NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) SNV Pathogenic 217665 rs757222534 GRCh37: 9:139326357-139326357
GRCh38: 9:136431905-136431905
31 INPP5E NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) SNV Pathogenic 217655 rs863225198 GRCh37: 9:139327702-139327702
GRCh38: 9:136433250-136433250
32 TCTN2 NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) SNV Pathogenic 217699 rs863225221 GRCh37: 12:124179823-124179823
GRCh38: 12:123695276-123695276
33 IFT172 NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) SNV Pathogenic 97024 rs587777079 GRCh37: 2:27670411-27670411
GRCh38: 2:27447544-27447544
34 INPP5E NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) Deletion Pathogenic 217658 rs863225199 GRCh37: 9:139324164-139324165
GRCh38: 9:136429712-136429713
35 TCTN2 NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) SNV Pathogenic 217702 rs201827132 GRCh37: 12:124171431-124171431
GRCh38: 12:123686884-123686884
36 MKS1 NM_001165927.1(MKS1):c.1559-2A>T SNV Pathogenic 217678 rs863225207 GRCh37: 17:56283533-56283533
GRCh38: 17:58206172-58206172
37 INPP5E NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) SNV Pathogenic 217661 rs780882740 GRCh37: 9:139328502-139328502
GRCh38: 9:136434050-136434050
38 INPP5E NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) SNV Pathogenic 217664 rs863225202 GRCh37: 9:139327438-139327438
GRCh38: 9:136432986-136432986
39 MKS1 NM_001165927.1(MKS1):c.50+286G>T SNV Pathogenic 217675 rs863225205 GRCh37: 17:56296537-56296537
GRCh38: 17:58219176-58219176
40 MKS1 NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) SNV Pathogenic 217672 rs773684291 GRCh37: 17:56285320-56285320
GRCh38: 17:58207959-58207959
41 B9D2 NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) SNV Pathogenic 217558 rs863225150 GRCh37: 19:41860913-41860913
GRCh38: 19:41355008-41355008
42 C2CD3 NM_015531.6(C2CD3):c.5267G>A (p.Gly1756Glu) SNV Pathogenic 217560 rs150291837 GRCh37: 11:73760476-73760476
GRCh38: 11:74049431-74049431
43 MKS1 NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) SNV Pathogenic 217681 rs863225210 GRCh37: 17:56285267-56285267
GRCh38: 17:58207906-58207906
44 TCTN2 NM_024809.5(TCTN2):c.1626del (p.Asp543fs) Deletion Pathogenic 217697 rs863225220 GRCh37: 12:124189092-124189092
GRCh38: 12:123704545-123704545
45 B9D2 NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) SNV Pathogenic 217556 rs750436680 GRCh37: 19:41860670-41860670
GRCh38: 19:41354765-41354765
46 C2CD3 NM_001286577.1(C2CD3):c.4951+1G>T SNV Pathogenic 217559 rs863225151 GRCh37: 11:73785297-73785297
GRCh38: 11:74074252-74074252
47 AHI1 NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) SNV Pathogenic 217523 rs777668842 GRCh37: 6:135776949-135776949
GRCh38: 6:135455811-135455811
48 RPGRIP1L NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) Deletion Pathogenic 241025 rs878855006 GRCh37: 16:53698905-53698905
GRCh38: 16:53664993-53664993
49 MKS1 NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) Duplication Pathogenic 56617 rs386834044 GRCh37: 17:56283862-56283863
GRCh38: 17:58206501-58206502
50 CC2D2A NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) SNV Pathogenic 238273 rs375278294 GRCh37: 4:15575830-15575830
GRCh38: 4:15574207-15574207

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

72
# 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

Cellular components related to Spinocerebellar Ataxia 29 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 TOGARAM1 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1
2 cytosol GO:0005829 10.36 TMEM216 TCTN1 RPGRIP1L OFD1 MKS1 KIAA0753
3 centrosome GO:0005813 10.1 TMEM67 RPGRIP1L OFD1 MKS1 KIAA0753 CEP290
4 MKS complex GO:0036038 10.02 TMEM67 TMEM216 TCTN1 MKS1 CEP290 CC2D2A
5 ciliary basal body GO:0036064 10.02 TOGARAM1 RPGRIP1L OFD1 MKS1 CEP290 CBY1
6 ciliary transition zone GO:0035869 10 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L MKS1
7 centriole GO:0005814 9.98 OFD1 MKS1 KIAA0753 CEP290 CBY1 C2CD3
8 cilium GO:0005929 9.97 TOGARAM1 TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1
9 microtubule organizing center GO:0005815 9.95 TOGARAM1 RPGRIP1L OFD1 MKS1 KIAA0753 CEP290
10 cytoskeleton GO:0005856 9.86 TOGARAM1 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1
11 centriolar satellite GO:0034451 9.8 OFD1 KIAA0753 CEP290 C2CD3
12 photoreceptor connecting cilium GO:0032391 9.7 TMEM237 RPGRIP1L CEP290
13 cell projection GO:0042995 9.55 TOGARAM1 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.93 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 MKS1
2 cilium assembly GO:0060271 9.83 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L OFD1
3 in utero embryonic development GO:0001701 9.76 TCTN1 RPGRIP1L C2CD3 B9D1
4 kidney development GO:0001822 9.75 RPGRIP1L CPLANE1 CC2D2A
5 non-motile cilium assembly GO:1905515 9.73 TOGARAM1 TMEM216 RPGRIP1L MKS1 CC2D2A C2CD3
6 embryonic digit morphogenesis GO:0042733 9.71 MKS1 CPLANE1 C2CD3 B9D1
7 determination of left/right symmetry GO:0007368 9.65 RPGRIP1L MKS1 CC2D2A
8 regulation of smoothened signaling pathway GO:0008589 9.62 TCTN1 RPGRIP1L MKS1 C2CD3
9 camera-type eye development GO:0043010 9.61 RPGRIP1L CC2D2A B9D1
10 telencephalon development GO:0021537 9.59 TCTN1 RPGRIP1L
11 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
12 centriole replication GO:0007099 9.57 OFD1 KIAA0753
13 axoneme assembly GO:0035082 9.56 TOGARAM1 CC2D2A
14 protein localization to centrosome GO:0071539 9.55 KIAA0753 C2CD3
15 hindbrain development GO:0030902 9.54 CEP290 AHI1
16 protein localization to ciliary transition zone GO:1904491 9.54 TCTN1 CPLANE1 CC2D2A
17 head development GO:0060322 9.52 RPGRIP1L MKS1
18 establishment of planar polarity GO:0001736 9.51 RPGRIP1L CPLANE1
19 cell projection organization GO:0030030 9.5 TOGARAM1 TMEM67 TMEM237 TMEM216 TCTN1 OFD1
20 embryonic brain development GO:1990403 9.49 MKS1 CC2D2A

Molecular functions related to Spinocerebellar Ataxia 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 OFD1 B9D2

Sources for Spinocerebellar Ataxia 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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