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 60
Maternally-Inherited Spastic Paraplegia 60
Maternally-Inherited Spg 60

Characteristics:

Orphanet epidemiological data:

60
mt-atp6-related mitochondrial spastic paraplegia
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
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 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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0002166
2 lower limb pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0012514
3 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
6 distal lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009053
7 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
8 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
9 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
10 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
11 supraventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005115
12 leg muscle stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0008969
13 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
14 abnormal pyramidal sign 60 Occasional (29-5%)
15 optic atrophy 60 Excluded (0%)
16 increased serum lactate 60 Excluded (0%)
17 abnormality of the cerebellum 60 Occasional (29-5%)
18 lower limb spasticity 60 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:

42
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
20 FMA
29 GO
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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