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

About this section

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

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp 23 24 26
Mtdna-Associated Leigh Syndrome and Narp 24
 
Mtdna-Associated Leigh Syndromenarp 23

Characteristics:

GeneReviews:

23
Penetrance: see genotype-phenotype correlations...


Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome and Narp

About this section
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 Metabolism.

GeneReviews for NBK1173

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

About this section

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 syndrome23.0BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
2polyhydramnios, megalencephaly, and symptomatic epilepsy10.5COX15, SURF1
3ocular albinism, x-linked10.5NDUFA12, NDUFAF6
4cardiomelic syndrome stratton koehler type10.4COX15, SURF1
5lfng-related spondylocostal dysostosis, autosomal recessive10.3MT-CO3, SURF1
6congenital fiber-type disproportion10.3MT-ATP6, MT-TK
7reproductive system disease10.2MT-ATP6, MT-ND1
8adrenocortical insufficiency, without ovarian defect10.2MT-ND1, MT-ND2
9cholera10.1MT-ATP6, MT-ND1
10mitochondrial dna-associated leigh syndrome10.1
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 recessive9.9MT-TK, MT-TL1
14alopecia, androgenetic, 29.9MT-ND1, MT-ND6
15sparganosis9.8MT-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 stature9.5BCS1L, COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6
25paroxysomal nonkinesigenic dyskinesia9.4MT-ND1, MT-ND3, MT-ND4, MT-ND6
26multiple epiphyseal dysplasia with robin phenotype9.4MT-ND4, MT-ND5, MT-TK, MT-TL1
27ulceration of vulva9.4MT-ND4, MT-ND5, MT-TK, MT-TL1
28genital herpes9.1MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
29wheat allergy8.9MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
30noninfectious dermatoses of eyelid8.9MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
31lymphoepithelioma-like carcinoma8.9MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
32childhood cerebral astrocytoma8.7COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, MT-TK
33mitochondrial complex i deficiency8.3FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
34mental retardation with spastic paraplegia8.1MT-ATP6, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1
35tinea nigra8.1MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
36esophageal basaloid squamous cell carcinoma8.0FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
37myoclonic epilepsy associated with ragged-red fibers7.5MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
38mitochondrial neurogastrointestinal encephalopathy disease7.0BCS1L, MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
39mitochondrial membrane protein-associated neurodegeneration5.2BCS1L, 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

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp26 24 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

About this section

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

About this section

Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

About this section

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

About this section

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

About this section
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

About this section

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

About this section

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:00057396.6BCS1L, COX15, FOXRED1, MT-CO3, MT-ND1, MT-ND3
4integral component of membraneGO:00160216.3COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2
5mitochondrial inner membraneGO:00057436.2COX15, 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 respiratory chain complex IV assemblyGO:00336179.8BCS1L, SURF1
4mitochondrial electron transport, cytochrome c to oxygenGO:00061239.6COX15, MT-CO3
5respiratory gaseous exchangeGO:00075859.5COX15, NDUFA12
6respiratory chain complex IV assemblyGO:00085359.4COX15, MT-CO3, SURF1
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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet