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:

Orphanet 59 ORPHA320360
ICD10 via Orphanet 34 G11.4

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 diabetes mellitus and hyperreflexia

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 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 Occasional (29-5%)
2 hyperreflexia 59 Frequent (79-30%)
3 abnormal pyramidal signs 59 Occasional (29-5%)
4 optic atrophy 59 Excluded (0%)
5 babinski sign 59 Occasional (29-5%)
6 cardiomyopathy 59 Occasional (29-5%)
7 supraventricular arrhythmia 59 Occasional (29-5%)
8 increased serum lactate 59 Excluded (0%)
9 difficulty walking 59 Frequent (79-30%)
10 abnormality of the cerebellum 59 Occasional (29-5%)
11 lower limb spasticity 59 Frequent (79-30%)
12 impaired vibration sensation in the lower limbs 59 Very frequent (99-80%)
13 lower limb pain 59 Very frequent (99-80%)
14 progressive spastic paraplegia 59 Very frequent (99-80%)
15 distal lower limb muscle weakness 59 Frequent (79-30%)
16 peripheral axonal neuropathy 59 Frequent (79-30%)
17 leg muscle stiffness 59 Occasional (29-5%)

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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