MCID: MTC015
MIFTS: 25

Mitochondrial Dna-Associated Leigh Syndrome and Narp malady

Genetic diseases (common) category

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 21 22 24
Mtdna-Associated Leigh Syndrome and Narp 22
 
Mtdna-Associated Leigh Syndromenarp 21


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 hypokalemic periodic paralysis, type 2. 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 Alzheimers disease.

GeneReviews summary for narp

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 35)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome27.5BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
2hypokalemic periodic paralysis, type 210.2COX15, SURF1
3cardiofacial syndrome short limbs10.2COX15, SURF1
4leptin deficiency10.2MT-CO3, SURF1
5deafness - encephaloneuropathy - obesity - valvulopathy10.1COX15, MT-CO3, SURF1
6angioid streaks10.1MT-ATP6, MT-ND1
7retinal degeneration autosomal recessive clumped pigment type10.1MT-ND1, MT-ND2
8visual epilepsy10.0MT-ND1, MT-ND4, MT-ND5
9digeorge syndrome 210.0MT-TK, MT-TL1
10indeterminate leprosy10.0MT-ND3, MT-TL1
11mertk-related retinitis pigmentosa10.0MT-TK, MT-TL1
12parkinson disease 6, early onset9.9MT-ND5, MT-ND6
13oculodental syndrome, rutherfurd type9.9COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3, SURF1
14mitochondrial complex iv deficiency9.9COX15, MT-CO3, MT-TL1, SURF1
15maternally inherited leigh syndrome9.9MT-CO3, MT-TK, MT-TL1
16mitochondrial dna-associated leigh syndrome and narp9.8BCS1L, COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
17encephalopathy due to prosaposin deficiency9.8MT-CO3, MT-ND5, MT-ND6
18morgagni cataract9.8MT-TV, MT-TW
19congenital factor v deficiency9.8MT-ND5, MT-ND6
20atypical follicular adenoma9.8MT-ND5, MT-TK, MT-TL1
21leber miliary aneurysm9.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
22mitral valve disease9.6COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, SURF1
23night blindness9.6MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
24lagophthalmos9.5MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
25cranial nerve iii tumor9.4MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND4, MT-ND5
26optic nerve glioma9.4MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND4, MT-ND5
27migraine, familial typical 29.3MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
28mitochondrial complex i deficiency9.2FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
29infant gynecomastia9.2MT-ATP6, MT-ND3, MT-ND5, MT-ND6, MT-TK, MT-TL1
30mitochondrial metabolism disease9.1MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
31clear cell basal cell carcinoma9.1FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
32pinta disease8.9MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
33matsoukas liarikos giannika syndrome8.6MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
34mitochondrial membrane protein-associated neurodegeneration8.4BCS1L, MT-ATP6, MT-CO3, MT-ND1, MT-ND3, MT-ND4
35mitochondrial disorders7.8BCS1L, 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:

Search ClinicalTrials, 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 Narp22 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

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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:00057478.2FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
3integral component of membraneGO:00160216.3COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2
4mitochondrial inner membraneGO:00057436.2COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2
5mitochondrionGO:00057395.1BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.6MT-ND4, MT-ND5
2respiratory gaseous exchangeGO:00075859.9COX15, NDUFA12
3reactive oxygen species metabolic processGO:00725939.8MT-ND2, NDUFS3
4respiratory chain complex IV assemblyGO:00085359.7COX15, MT-CO3, SURF1
5hydrogen ion transmembrane transportGO:19026009.6COX15, MT-CO3, SURF1
6mitochondrial electron transport, NADH to ubiquinoneGO:00061209.5MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, NDUFS3
7mitochondrial respiratory chain complex I assemblyGO:00329819.4BCS1L, FOXRED1, NDUFAF6
8respiratory electron transport chainGO:00229047.7MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
9cellular metabolic processGO:00442377.6MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
10small molecule metabolic processGO:00442816.6COX15, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
11oxidation-reduction processGO:00551146.1COX15, 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
1cytochrome-c oxidase activityGO:00041299.1COX15, MT-CO3, SURF1
2NADH dehydrogenase (ubiquinone) activityGO:00081378.3MT-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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet