MCID: MTC015
MIFTS: 25

Mitochondrial Dna-Associated Leigh Syndrome and Narp malady

Category: Genetic diseases (common)

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Aliases & Descriptions for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp 22 23 25
Mtdna-Associated Leigh Syndrome and Narp 23
 
Mtdna-Associated Leigh Syndromenarp 22

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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MalaCards based summary: Mitochondrial Dna-Associated Leigh Syndrome and Narp, also known as mtdna-associated leigh syndrome and narp, is related to leigh syndrome and polyhydramnios, megalencephaly, and symptomatic epilepsy. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome and Narp is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways are tRNA Aminoacylation and Alzheimer's disease.

GeneReviews summary for NBK1173

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome22.3BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
2polyhydramnios, megalencephaly, and symptomatic epilepsy10.6COX15, SURF1
3ocular albinism, x-linked10.6NDUFA12, NDUFAF6
4cardiomelic syndrome stratton koehler type10.5COX15, SURF1
5lfng-related spondylocostal dysostosis, autosomal recessive10.4MT-CO3, SURF1
6congenital fiber-type disproportion10.3MT-ATP6, MT-TK
7reproductive system disease10.3MT-ATP6, MT-ND1
8adrenocortical insufficiency, without ovarian defect10.2MT-ND1, MT-ND2
9mitochondrial dna-associated leigh syndrome10.2
10cholera10.2MT-ATP6, MT-ND1
11childhood electroclinical syndrome10.0MT-ND4, MT-TK
12mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.0MT-TK, MT-TL1
13mesp2-related spondylocostal dysostosis, autosomal recessive10.0MT-TK, MT-TL1
14alopecia, androgenetic, 29.9MT-ND1, MT-ND6
15sparganosis9.9MT-ND3, MT-ND5, MT-TL1
16african histoplasmosis9.8MT-ND4, MT-TV, MT-TW
17malignant perineurioma9.8COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3, SURF1
18parkinson disease 6, early onset9.8MT-ND5, MT-ND6
19mitochondrial complex iv deficiency9.8COX15, MT-CO3, MT-TL1, SURF1
20interstitial lung disease9.7MT-ND4, MT-TK
21mitochondrial disorders9.6BCS1L, COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
22clubfoot9.6MT-ND4, MT-ND5, MT-ND6
23enchondroma9.6MT-CO3, MT-ND5, MT-ND6
24lumbar malsegmentation short stature9.4BCS1L, COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6
25paroxysomal nonkinesigenic dyskinesia9.4MT-ND1, MT-ND3, MT-ND4, MT-ND6
26multiple epiphyseal dysplasia with robin phenotype9.3MT-ND4, MT-ND5, MT-TK, MT-TL1
27ulceration of vulva9.3MT-ND4, MT-ND5, MT-TK, MT-TL1
28genital herpes9.1MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
29wheat allergy8.8MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
30noninfectious dermatoses of eyelid8.8MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
31lymphoepithelioma-like carcinoma8.8MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
32childhood cerebral astrocytoma8.6COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, MT-TK
33mitochondrial complex i deficiency8.1FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
34mental retardation with spastic paraplegia7.9MT-ATP6, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1
35tinea nigra7.9MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
36esophageal basaloid squamous cell carcinoma7.8FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
37myoclonic epilepsy associated with ragged-red fibers7.3MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
38mitochondrial neurogastrointestinal encephalopathy disease6.6BCS1L, MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
39mitochondrial membrane protein-associated neurodegeneration4.6BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1

Graphical network of the top 20 diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:



Diseases related to mitochondrial dna-associated leigh syndrome and narp

Symptoms for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Genetic tests related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

id Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp25 23 MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1 (show all 12)

MT-TV, MT-TW

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Animal Models for Mitochondrial Dna-Associated Leigh Syndrome and Narp or affiliated genes

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Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Articles related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

idTitleAuthorsYear
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP (20301352)
1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Expression for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Search GEO for disease gene expression data for Mitochondrial Dna-Associated Leigh Syndrome and Narp.

Pathways for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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GO Terms for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Cellular components related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chainGO:00057469.9COX15, SURF1
2mitochondrial respiratory chain complex IGO:00057478.3FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
3mitochondrionGO:00057396.4BCS1L, COX15, FOXRED1, MT-CO3, MT-ND1, MT-ND3
4mitochondrial inner membraneGO:00057436.1COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2
5integral component of membraneGO:00160216.0COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2

Biological processes related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ATP biosynthetic processGO:000675410.1MT-ATP6, SURF1
2reactive oxygen species metabolic processGO:00725939.8MT-ND2, NDUFS3
3mitochondrial electron transport, cytochrome c to oxygenGO:00061239.8COX15, MT-CO3
4mitochondrial respiratory chain complex IV assemblyGO:00336179.7BCS1L, SURF1
5respiratory chain complex IV assemblyGO:00085359.5COX15, MT-CO3, SURF1
6respiratory gaseous exchangeGO:00075859.4COX15, NDUFA12
7hydrogen ion transmembrane transportGO:19026009.3COX15, MT-CO3, SURF1
8mitochondrial electron transport, NADH to ubiquinoneGO:00061207.7MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
9mitochondrial respiratory chain complex I assemblyGO:00329816.9BCS1L, FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4

Molecular functions related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transporter activityGO:002285710.3MT-ATP6, NDUFAF6
2cytochrome-c oxidase activityGO:00041299.3COX15, SURF1
3NADH dehydrogenase (ubiquinone) activityGO:00081378.4MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet