MCID: SPN266
MIFTS: 32

Spinocerebellar Ataxia 35

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 35

MalaCards integrated aliases for Spinocerebellar Ataxia 35:

Name: Spinocerebellar Ataxia 35 57 53 75 29 13 6 73
Sca35 57 53 59 75
Spinocerebellar Ataxia Type 35 12 59 15
Ataxia, Spinocerebellar, Type 35 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 35
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range teenage to adult years)


HPO:

32
spinocerebellar ataxia 35:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 35

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 35: A form of spinocerebellar ataxia, 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. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment.

MalaCards based summary : Spinocerebellar Ataxia 35, also known as sca35, is related to autosomal dominant cerebellar ataxia and autoimmune disease of gastrointestinal tract, and has symptoms including abnormal pyramidal signs and action tremor. An important gene associated with Spinocerebellar Ataxia 35 is TGM6 (Transglutaminase 6). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and hyperreflexia

OMIM : 57 Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014). (613908)

Related Diseases for Spinocerebellar Ataxia 35

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 35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 9.9
2 autoimmune disease of gastrointestinal tract 9.3 TGM2 TGM6
3 dermatitis herpetiformis 9.2 TGM2 TGM6
4 celiac disease 1 9.0 TGM2 TGM6

Symptoms & Phenotypes for Spinocerebellar Ataxia 35

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
intention tremor
difficulty walking
more
Head And Neck Neck:
torticollis (rare)
neck muscle weakness (rare)

Head And Neck Eyes:
ocular dysmetria
saccadic slowing


Clinical features from OMIM:

613908

Human phenotypes related to Spinocerebellar Ataxia 35:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 Frequent (79-30%) HP:0001260
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
4 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
5 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
6 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
7 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
8 intellectual disability, moderate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002342
9 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
10 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
11 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
12 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
13 neck muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000467
14 dysmetric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0000641
15 pseudobulbar paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007024
16 nystagmus 59 Excluded (0%)
17 peripheral neuropathy 59 Excluded (0%)
18 ophthalmoplegia 59 Excluded (0%)
19 incoordination 32 HP:0002311
20 abnormality of the orbital region 32 HP:0000315

UMLS symptoms related to Spinocerebellar Ataxia 35:


abnormal pyramidal signs, action tremor

Drugs & Therapeutics for Spinocerebellar Ataxia 35

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 35

Genetic Tests for Spinocerebellar Ataxia 35

Genetic tests related to Spinocerebellar Ataxia 35:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 35 29 TGM6

Anatomical Context for Spinocerebellar Ataxia 35

MalaCards organs/tissues related to Spinocerebellar Ataxia 35:

41
Eye, Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 35

Articles related to Spinocerebellar Ataxia 35:

# Title Authors Year
1
Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization. ( 25253745 )
2014

Variations for Spinocerebellar Ataxia 35

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 35:

75
# Symbol AA change Variation ID SNP ID
1 TGM6 p.Asp327Gly VAR_065360 rs387907098
2 TGM6 p.Leu517Trp VAR_065361 rs387907097
3 TGM6 p.Arg111Cys VAR_072179 rs372250159
4 TGM6 p.Asp510His VAR_072180 rs201964784

ClinVar genetic disease variations for Spinocerebellar Ataxia 35:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM6 NM_198994.2(TGM6): c.1550T> G (p.Leu517Trp) single nucleotide variant Pathogenic rs387907097 GRCh37 Chromosome 20, 2398091: 2398091
2 TGM6 NM_198994.2(TGM6): c.1550T> G (p.Leu517Trp) single nucleotide variant Pathogenic rs387907097 GRCh38 Chromosome 20, 2417445: 2417445
3 TGM6 NM_198994.2(TGM6): c.980A> G (p.Asp327Gly) single nucleotide variant Pathogenic rs387907098 GRCh37 Chromosome 20, 2381081: 2381081
4 TGM6 NM_198994.2(TGM6): c.980A> G (p.Asp327Gly) single nucleotide variant Pathogenic rs387907098 GRCh38 Chromosome 20, 2400435: 2400435
5 TGM6 NM_198994.2(TGM6): c.1528G> C (p.Asp510His) single nucleotide variant Pathogenic rs201964784 GRCh37 Chromosome 20, 2398069: 2398069
6 TGM6 NM_198994.2(TGM6): c.1528G> C (p.Asp510His) single nucleotide variant Pathogenic rs201964784 GRCh38 Chromosome 20, 2417423: 2417423
7 TGM6 NM_198994.2(TGM6): c.331C> T (p.Arg111Cys) single nucleotide variant Pathogenic rs372250159 GRCh38 Chromosome 20, 2395343: 2395343
8 TGM6 NM_198994.2(TGM6): c.331C> T (p.Arg111Cys) single nucleotide variant Pathogenic rs372250159 GRCh37 Chromosome 20, 2375989: 2375989
9 TGM6 NM_198994.2(TGM6): c.1722_1724delAGA (p.Glu574del) deletion Pathogenic rs793888526 GRCh37 Chromosome 20, 2411135: 2411137
10 TGM6 NM_198994.2(TGM6): c.1722_1724delAGA (p.Glu574del) deletion Pathogenic rs793888526 GRCh38 Chromosome 20, 2430489: 2430491
11 TGM6 NM_198994.2(TGM6): c.850+12G> A single nucleotide variant Benign rs2076404 GRCh37 Chromosome 20, 2380396: 2380396
12 TGM6 NM_198994.2(TGM6): c.850+12G> A single nucleotide variant Benign rs2076404 GRCh38 Chromosome 20, 2399750: 2399750
13 TGM6 NM_198994.2(TGM6): c.1968-11C> T single nucleotide variant Benign rs2076653 GRCh38 Chromosome 20, 2432479: 2432479
14 TGM6 NM_198994.2(TGM6): c.1968-11C> T single nucleotide variant Benign rs2076653 GRCh37 Chromosome 20, 2413125: 2413125
15 TGM6 NM_198994.2(TGM6): c.1968-10C> T single nucleotide variant Benign rs6036467 GRCh38 Chromosome 20, 2432480: 2432480
16 TGM6 NM_198994.2(TGM6): c.1968-10C> T single nucleotide variant Benign rs6036467 GRCh37 Chromosome 20, 2413126: 2413126

Expression for Spinocerebellar Ataxia 35

Search GEO for disease gene expression data for Spinocerebellar Ataxia 35.

Pathways for Spinocerebellar Ataxia 35

GO Terms for Spinocerebellar Ataxia 35

Biological processes related to Spinocerebellar Ataxia 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide cross-linking GO:0018149 8.62 TGM2 TGM6

Molecular functions related to Spinocerebellar Ataxia 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 TGM2 TGM6
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.62 TGM2 TGM6

Sources for Spinocerebellar Ataxia 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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