MCID: MTT008
MIFTS: 11

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 59
Maternally-Inherited Spastic Paraplegia 59
Maternally-Inherited Spg 59

Characteristics:

Orphanet epidemiological data:

59
mt-atp6-related mitochondrial spastic paraplegia
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA320360

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 impaired vibration sensation in the lower limbs and lower limb pain

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0002166
2 lower limb pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0012514
3 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
6 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
7 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
8 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
9 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
10 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
11 supraventricular arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005115
12 abnormal cerebellum morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
13 leg muscle stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0008969
14 abnormal pyramidal sign 59 Occasional (29-5%)
15 optic atrophy 59 Excluded (0%)
16 increased serum lactate 59 Excluded (0%)
17 lower limb spasticity 59 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:

41
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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