MCID: SPS214
MIFTS: 23

Spastic Ataxia 4

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 4

MalaCards integrated aliases for Spastic Ataxia 4:

Name: Spastic Ataxia 4 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050943

Summaries for Spastic Ataxia 4

Disease Ontology : 12 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has material basis in homozygous mutation in the MTPAP gene on chromosome 10p11.

MalaCards based summary : Spastic Ataxia 4 is related to spastic ataxia 4, autosomal recessive and childhood ataxia with central nervous system hypomyelination / vanishing white matter. An important gene associated with Spastic Ataxia 4 is MTPAP (Mitochondrial Poly(A) Polymerase), and among its related pathways/superpathways are ATP/ITP metabolism and Translation Factors. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Spastic Ataxia 4

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive Spastic Ataxia 1
Spastic Ataxia 2 Spastic Ataxia 3
Spastic Ataxia 4 Spastic Ataxia 5
Spastic Ataxia 7 Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia Autosomal Recessive Spastic Ataxia

Diseases related to Spastic Ataxia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 4, autosomal recessive 11.7
2 childhood ataxia with central nervous system hypomyelination / vanishing white matter 10.1 EIF2B2 EIF2B1
3 spastic paraparesis 10.0 MTPAP AFG3L2
4 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 POLR3B POLR3A
5 spastic ataxia 8 9.9 POLR3B POLR3A
6 polr3-related leukodystrophy 9.9 POLR3B POLR3A
7 hypomyelinating leukoencephalopathy 9.9 POLR3B POLR3A
8 boucher-neuhauser syndrome 9.9 POLR3B POLR3A
9 leukodystrophy, hypomyelinating, 10 9.9 POLR3B POLR3A
10 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 POLR3B POLR3A
11 gordon holmes syndrome 9.8 POLR3B POLR3A
12 treacher collins syndrome 1 9.8 POLR3B POLR3A
13 spinocerebellar ataxia, autosomal recessive 14 9.8 SACS AFG3L2
14 dystonia 11, myoclonic 9.7 POLR3B POLR3A
15 spinocerebellar ataxia, autosomal recessive 8 9.7 SACS AFG3L2
16 hypomyelinating leukodystrophy 9.7 POLR3B POLR3A
17 spasticity 9.5 SACS AFG3L2
18 cerebral degeneration 9.5 POLR3B POLR3A EIF2B2 EIF2B1
19 leukoencephalopathy with vanishing white matter 9.5 POLR3B POLR3A EIF2B2 EIF2B1
20 leukodystrophy 9.4 POLR3B POLR3A EIF2B2 EIF2B1
21 spastic ataxia 9.3 SACS POLR3A MTPAP AFG3L2
22 hereditary ataxia 9.2 SACS POLR3B POLR3A AFG3L2

Graphical network of the top 20 diseases related to Spastic Ataxia 4:



Diseases related to Spastic Ataxia 4

Symptoms & Phenotypes for Spastic Ataxia 4

GenomeRNAi Phenotypes related to Spastic Ataxia 4 according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.7 EIF2B2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 EIF2B1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.7 EIF2B2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.7 EIF2B2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 EIF2B2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 EIF2B1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.7 EIF2B1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.7 AFG3L2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.7 EIF2B1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.7 AFG3L2 EIF2B1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.7 AFG3L2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 EIF2B1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.7 POLR3B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.7 EIF2B2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.7 EIF2B2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.7 POLR3B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.7 EIF2B1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.7 EIF2B2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.7 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 AFG3L2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.7 AFG3L2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.7 EIF2B1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 POLR3B

Drugs & Therapeutics for Spastic Ataxia 4

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 4

Genetic Tests for Spastic Ataxia 4

Anatomical Context for Spastic Ataxia 4

Publications for Spastic Ataxia 4

Articles related to Spastic Ataxia 4:

# Title Authors PMID Year
1
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. 6
25008111 2014
2
Defective mitochondrial mRNA maturation is associated with spastic ataxia. 6
20970105 2010
3
Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype. 61
26319014 2015

Variations for Spastic Ataxia 4

ClinVar genetic disease variations for Spastic Ataxia 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTPAP NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp) SNV Pathogenic 18391 rs267606900 GRCh37: 10:30602855-30602855
GRCh38: 10:30313926-30313926
2 MTPAP NM_018109.4(MTPAP):c.526del (p.Leu176fs) Deletion Pathogenic 1033465 GRCh37: 10:30629184-30629184
GRCh38: 10:30340255-30340255
3 MTPAP NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro) SNV Uncertain significance 1028088 GRCh37: 10:30602614-30602614
GRCh38: 10:30313685-30313685
4 MTPAP NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser) SNV Uncertain significance 1029511 GRCh37: 10:30615503-30615503
GRCh38: 10:30326574-30326574
5 MTPAP NM_018109.3(MTPAP):c.468G>C (p.Gln156His) SNV Uncertain significance 805055 rs547303023 GRCh37: 10:30629242-30629242
GRCh38: 10:30340313-30340313
6 MTPAP NM_018109.3(MTPAP):c.1468G>T (p.Val490Leu) SNV Uncertain significance 374341 rs1057518710 GRCh37: 10:30602819-30602819
GRCh38: 10:30313890-30313890
7 MTPAP NM_018109.3(MTPAP):c.346G>A (p.Val116Ile) SNV Uncertain significance 447743 rs560622337 GRCh37: 10:30629364-30629364
GRCh38: 10:30340435-30340435
8 MTPAP NM_018109.3(MTPAP):c.555+19C>T SNV Benign 138281 rs1047988 GRCh37: 10:30629136-30629136
GRCh38: 10:30340207-30340207
9 MTPAP NM_018109.3(MTPAP):c.484C>T (p.Arg162Cys) SNV Benign 129624 rs1047991 GRCh37: 10:30629226-30629226
GRCh38: 10:30340297-30340297

Expression for Spastic Ataxia 4

Search GEO for disease gene expression data for Spastic Ataxia 4.

Pathways for Spastic Ataxia 4

Pathways related to Spastic Ataxia 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 POLR3B POLR3A
2
Show member pathways
10.41 EIF2B2 EIF2B1

GO Terms for Spastic Ataxia 4

Cellular components related to Spastic Ataxia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 8.96 POLR3B POLR3A
2 eukaryotic translation initiation factor 2B complex GO:0005851 8.62 EIF2B2 EIF2B1

Biological processes related to Spastic Ataxia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to glucose GO:0009749 9.46 EIF2B2 EIF2B1
2 response to peptide hormone GO:0043434 9.43 EIF2B2 EIF2B1
3 positive regulation of type I interferon production GO:0032481 9.4 POLR3B POLR3A
4 myelination GO:0042552 9.37 EIF2B2 AFG3L2
5 response to heat GO:0009408 9.32 EIF2B2 EIF2B1
6 positive regulation of interferon-beta production GO:0032728 9.26 POLR3B POLR3A
7 regulation of translational initiation GO:0006446 9.16 EIF2B2 EIF2B1
8 oligodendrocyte development GO:0014003 8.96 EIF2B2 EIF2B1
9 cellular metabolic process GO:0044237 8.62 EIF2B2 EIF2B1

Molecular functions related to Spastic Ataxia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation initiation factor activity GO:0003743 9.16 EIF2B2 EIF2B1
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.96 POLR3B POLR3A
3 nucleotidyltransferase activity GO:0016779 8.8 POLR3B POLR3A MTPAP

Sources for Spastic Ataxia 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....