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

Sources

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

Sources

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

Sources

Related Diseases for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

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 signs 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%)

Sources

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

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

Sources

Genetic Tests for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

Anatomical Context for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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

⁴²

Cerebellum

Sources

Publications for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

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

Sources

Variations for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

Expression for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

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

Sources

Pathways for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

GO Terms for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

Sources

Sources for Mt-Atp6-Related Mitochondrial Spastic Paraplegia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia