MCID: MTT008
MIFTS: 13

Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

MalaCards integrated aliases for Mt-Atp6-Related Mitochondrial Spastic Paraplegia:

Name: Mt-Atp6-Related Mitochondrial Spastic Paraplegia 58
Maternally-Inherited Spastic Paraplegia 58
Maternally-Inherited Spg 58

Characteristics:

Orphanet epidemiological data:

58
mt-atp6-related mitochondrial spastic paraplegia
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

MalaCards based summary : Mt-Atp6-Related Mitochondrial Spastic Paraplegia, is also known as maternally-inherited spastic paraplegia. An important gene associated with Mt-Atp6-Related Mitochondrial Spastic Paraplegia is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). Affiliated tissues include cerebellum, and related phenotypes are progressive spastic paraplegia and impaired vibration sensation in the lower limbs

Related Diseases for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Symptoms & Phenotypes for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Human phenotypes related to Mt-Atp6-Related Mitochondrial Spastic Paraplegia:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
2 impaired vibration sensation in the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002166
3 lower limb pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0012514
4 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
5 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
6 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
7 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
8 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
9 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
10 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
11 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
12 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
13 leg muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008969
14 optic atrophy 58 Excluded (0%)
15 abnormal pyramidal sign 58 Occasional (29-5%)
16 increased serum lactate 58 Excluded (0%)
17 lower limb spasticity 58 Frequent (79-30%)

Drugs & Therapeutics for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Genetic Tests for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Anatomical Context for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

MalaCards organs/tissues related to Mt-Atp6-Related Mitochondrial Spastic Paraplegia:

40
Cerebellum

Publications for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Variations for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Expression for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Search GEO for disease gene expression data for Mt-Atp6-Related Mitochondrial Spastic Paraplegia.

Pathways for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

GO Terms for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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