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 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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁵ G11.4

Orphanet ⁶⁰ ORPHA320360

SNOMED-CT via HPO ⁷⁰ 10601006 128208007 228158008 more

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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:

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%)

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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:

⁴²

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 ⁶⁰

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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

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