Mt-Atp6-Related Mitochondrial Spastic Paraplegia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁴ G11.4

Orphanet ⁵⁹ ORPHA320360

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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

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Related Diseases for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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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%)

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

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

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Genetic Tests for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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Anatomical Context for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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

⁴¹

Cerebellum

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Publications for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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Genes for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Genes related to Mt-Atp6-Related Mitochondrial Spastic Paraplegia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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Expression for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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

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Pathways for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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GO Terms for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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Sources for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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³³ ICD10

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³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia