MCID: SPS171
MIFTS: 21

Spastic Ataxia 5

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

Aliases & Classifications for Spastic Ataxia 5

MalaCards integrated aliases for Spastic Ataxia 5:

Name: Spastic Ataxia 5 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050944

Summaries for Spastic Ataxia 5

Disease Ontology : 12 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has material basis in homozygous mutation in the AFG3L2 gene on chromosome 18p11.

MalaCards based summary : Spastic Ataxia 5 is related to spastic ataxia 5, autosomal recessive and optic atrophy 9. An important gene associated with Spastic Ataxia 5 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include eye and cortex, and related phenotype is Increased the percentage of infected cells.

Related Diseases for Spastic Ataxia 5

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 5, autosomal recessive 32.9 TUBB6 AFG3L2
2 optic atrophy 9 10.2 SPG7 AFG3L2
3 spastic ataxia 10.2 TUBB6 SPG7 AFG3L2
4 spinocerebellar ataxia, autosomal recessive 14 10.2 SPG7 AFG3L2
5 familial hypocalciuric hypercalcemia 10.1 TIMM10 SPG7 MAIP1
6 optic atrophy 3, autosomal dominant 10.0 SPG7 PNPT1
7 visual cortex disease 10.0 TIMM9 TIMM10
8 optic atrophy 8 10.0 YME1L1 OMA1
9 mohr-tranebjaerg syndrome 10.0 TIMM9 TIMM17A TIMM10
10 optic atrophy 4 10.0 YME1L1 OMA1
11 visual pathway disease 10.0 TIMM9 TIMM10
12 spastic paraplegia 7, autosomal recessive 9.9 YME1L1 SPG7 PARL AFG3L2
13 perrault syndrome 9.8 YME1L1 SPG7 PARL AFG3L2
14 optic atrophy 5 9.8 YME1L1 SPG7 OMA1 AFG3L2
15 cone-rod dystrophy 1 9.8 TRIAP1 PRELID1
16 cranial nerve disease 9.6 YME1L1 SPG7 PARL OMA1
17 3-methylglutaconic aciduria, type v 9.6 TIMM17A PHB2 PHB
18 optic nerve disease 9.5 YME1L1 SPG7 PARL OMA1 AFG3L2
19 3-methylglutaconic aciduria, type iii 9.3 TUBB6 SPG7 PHB PARL OMA1 AFG3L2
20 optic atrophy 1 8.8 YME1L1 TOMM70 SPG7 PHB2 PHB PARL
21 spinocerebellar ataxia 28 8.7 YME1L1 TIMM9 TIMM17A TIMM10 SPG7 PRELID1

Graphical network of the top 20 diseases related to Spastic Ataxia 5:



Diseases related to Spastic Ataxia 5

Symptoms & Phenotypes for Spastic Ataxia 5

GenomeRNAi Phenotypes related to Spastic Ataxia 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased the percentage of infected cells GR00402-S-1 8.32 OMA1

Drugs & Therapeutics for Spastic Ataxia 5

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 5

Genetic Tests for Spastic Ataxia 5

Anatomical Context for Spastic Ataxia 5

MalaCards organs/tissues related to Spastic Ataxia 5:

40
Eye, Cortex

Publications for Spastic Ataxia 5

Articles related to Spastic Ataxia 5:

# Title Authors PMID Year
1
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. 61
31111429 2019

Variations for Spastic Ataxia 5

Expression for Spastic Ataxia 5

Search GEO for disease gene expression data for Spastic Ataxia 5.

Pathways for Spastic Ataxia 5

Pathways related to Spastic Ataxia 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.72 TOMM70 TIMM9 TIMM17A TIMM10

GO Terms for Spastic Ataxia 5

Cellular components related to Spastic Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.7 YME1L1 TIMM9 TIMM17A TIMM10 SPG7 PHB2
2 mitochondrial intermembrane space GO:0005758 9.55 TRIAP1 TIMM9 TIMM10 PRELID1 PNPT1
3 mitochondrion GO:0005739 9.5 YME1L1 TRIAP1 TOMM70 TIMM9 TIMM17A TIMM10
4 TIM23 mitochondrial import inner membrane translocase complex GO:0005744 9.4 TIMM17A TIMM10
5 mitochondrial intermembrane space protein transporter complex GO:0042719 9.37 TIMM9 TIMM10
6 mitochondrial prohibitin complex GO:0035632 9.32 PHB2 PHB
7 m-AAA complex GO:0005745 9.26 SPG7 AFG3L2

Biological processes related to Spastic Ataxia 5 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.97 YME1L1 SPG7 PARL OMA1 AFG3L2
2 negative regulation of apoptotic process GO:0043066 9.92 YME1L1 TRIAP1 PRELID1 PHB2 PHB
3 regulation of apoptotic process GO:0042981 9.77 TRIAP1 TOMM70 PRELID1 PHB OMA1
4 B cell activation GO:0042113 9.62 PHB2 PHB
5 activation of phospholipase C activity GO:0007202 9.62 PHB2 PHB
6 cristae formation GO:0042407 9.61 SPG7 AFG3L2
7 protein autoprocessing GO:0016540 9.61 OMA1 AFG3L2
8 protein import into mitochondrial matrix GO:0030150 9.6 TOMM70 TIMM17A
9 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.59 TRIAP1 PRELID1
10 mitochondrial fusion GO:0008053 9.58 SPG7 AFG3L2
11 mitochondrial calcium ion homeostasis GO:0051560 9.58 MAIP1 AFG3L2
12 membrane protein proteolysis GO:0033619 9.56 PARL AFG3L2
13 protein targeting to mitochondrion GO:0006626 9.56 TOMM70 TIMM9 TIMM17A TIMM10
14 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 9.55 YME1L1 OMA1
15 mitochondrion organization GO:0007005 9.55 YME1L1 SPG7 PHB2 PHB AFG3L2
16 calcium import into the mitochondrion GO:0036444 9.54 MAIP1 AFG3L2
17 chaperone-mediated protein transport GO:0072321 9.51 TIMM9 TIMM10
18 protein import into mitochondrial inner membrane GO:0045039 9.5 TOMM70 TIMM9 TIMM10
19 CD40 signaling pathway GO:0023035 9.49 PHB2 PHB
20 RIG-I signaling pathway GO:0039529 9.48 PHB2 PHB
21 positive regulation of phospholipid transport GO:2001140 9.46 TRIAP1 PRELID1
22 activation of protein kinase C activity GO:1990051 9.43 PHB2 PHB
23 regulation of membrane lipid distribution GO:0097035 9.4 TRIAP1 PRELID1
24 mitochondrial protein processing GO:0034982 9.26 YME1L1 SPG7 OMA1 AFG3L2
25 mitochondrial calcium ion transmembrane transport GO:0006851 9.17 YME1L1 SPG7 PHB2 PHB PARL MAIP1

Molecular functions related to Spastic Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.72 YME1L1 SPG7 PARL OMA1 AFG3L2
2 metallopeptidase activity GO:0008237 9.46 YME1L1 SPG7 OMA1 AFG3L2
3 protein transmembrane transporter activity GO:0008320 9.37 TOMM70 TIMM17A
4 phosphatidic acid transporter activity GO:1990050 9.26 TRIAP1 PRELID1
5 metalloendopeptidase activity GO:0004222 9.26 YME1L1 SPG7 OMA1 AFG3L2
6 ATP-dependent peptidase activity GO:0004176 8.8 YME1L1 SPG7 AFG3L2

Sources for Spastic Ataxia 5

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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