MCID: MTC112
MIFTS: 27

Mitochondrial Dna-Associated Leigh Syndrome malady

Categories: Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome

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Sources:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mitochondrial Dna-Associated Leigh Syndrome:

Name: Mitochondrial Dna-Associated Leigh Syndrome 45
Mils 45 51 65
Maternally Inherited Leigh Syndrome 45 65
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 51
 
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 45
Leigh Disease, Maternally Inherited 45
Maternally-Inherited Leigh Syndrome 51
Maternally-Inherited Leigh Disease 51

Characteristics:

Orphanet epidemiological data:

51
mils:
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 255210
ICD10 via Orphanet28 G31.8
UMLS via Orphanet66 C2931092
UMLS65 C2931092, C0872216

Summaries for Mitochondrial Dna-Associated Leigh Syndrome

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NIH Rare Diseases:45 Mitochondrial dna-associated leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. mitochondrial dna-associated leigh syndrome is a subtype of leigh syndrome and is caused by changes in mitochondrial dna. mutations in at least 11 mitochondrial genes have been found to cause mtdna-associated leigh syndrome. this condition has an inheritance pattern known as maternal or mitochondrial inheritance. because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial dna-associated leigh syndrome to their children. last updated: 1/27/2016

MalaCards based summary: Mitochondrial Dna-Associated Leigh Syndrome, also known as mils, is related to mitochondrial dna-associated leigh syndrome and narp and leigh syndrome. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways are tRNA Aminoacylation and Metabolism. Affiliated tissues include brain, heart and kidney.

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp33.8BCS1L, COX15, FOXRED1, NDUFAF2, NDUFAF6, NDUFS3
2leigh syndrome26.0BCS1L, COX15, FOXRED1, MT-ATP6, MT-ND1, MT-ND2
3cholestasis, benign recurrent intrahepatic, 210.4
4hypokalemic periodic paralysis, type 210.4COX15, SURF1
5cardiofacial syndrome short limbs10.3COX15, SURF1
6echinococcosis10.3MT-ATP6, MT-ND1
7porokeratosis 7, multiple types10.3MT-ND1, MT-ND2
8neurosarcoidosis10.3
9crohn's disease10.2
10diamond-blackfan anemia10.2
11uveitis10.2
12leiomyosarcoma10.2
13proctitis10.2
14craniopharyngioma10.2
15intracranial hypotension10.2
16neuropathy10.2
17spontaneous intracranial hypotension10.2
18radiation proctitis10.2
19atopy10.2
20asthma10.2
21lymphoma10.2
22hepatorenal syndrome10.2
23deafness-encephaloneuropathy-obesity-valvulopathy syndrome10.2COX15, SURF1
24cysticercosis10.1MT-ND3, MT-ND5
25encephalopathy10.1MT-ND3, SURF1
26encephalopathy due to prosaposin deficiency10.0MT-ND1, MT-ND4, MT-ND5
27cholera10.0MT-ATP6, MT-ND1
28digeorge syndrome 210.0MT-TK, MT-TL1
29mertk-related retinitis pigmentosa10.0MT-TK, MT-TL1
30mitochondrial complex iv deficiency10.0COX15, MT-TL1, SURF1
31matsoukas liarikos giannika syndrome9.9MT-TK, MT-TL1
32parkinson disease 6, early onset9.9MT-ND5, MT-ND6
33leigh syndrome with nephrotic syndrome9.8COX15, FOXRED1, NDUFAF2, NDUFAF6, NDUFS3, SURF1
34morbid obesity and spermatogenic failure9.8MT-ND4, MT-ND6
35thoracic outlet syndrome9.7MT-ND5, MT-TK, MT-TL1
36visual epilepsy9.7MT-ND4, MT-ND5, MT-ND6
37ledderhose disease9.6MT-ND1, MT-ND3, MT-ND4, MT-ND6
38lipid-rich carcinoma9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
39progressive myoclonus epilepsy9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
40eczematous dermatitis of eyelid9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
41olfactory nerve neoplasm9.4MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
42cheek mucosa cancer9.4MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
43gemistocytic astrocytoma9.4COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, SURF1
44alcoholic cardiomyopathy9.2MT-ATP6, MT-ND5, MT-ND6, MT-TL1, MT-TW
45plexopathy8.7MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TL1
46thymus basaloid carcinoma8.6FOXRED1, MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4
47mitochondrial complex i deficiency8.6FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
48mitochondrial membrane protein-associated neurodegeneration7.6BCS1L, MT-ATP6, MT-ND1, MT-ND3, MT-ND4, MT-ND5
49mitochondrial disorders6.8BCS1L, COX15, FOXRED1, MT-ATP6, MT-ND1, MT-ND2
50mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes6.6BCS1L, COX15, FOXRED1, MT-ATP6, MT-ND1, MT-ND2

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



Diseases related to mitochondrial dna-associated leigh syndrome

Symptoms for Mitochondrial Dna-Associated Leigh Syndrome

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Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome

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Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome

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MalaCards organs/tissues related to Mitochondrial Dna-Associated Leigh Syndrome:

33
Brain, Heart, Kidney

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

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Publications for Mitochondrial Dna-Associated Leigh Syndrome

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Articles related to Mitochondrial Dna-Associated Leigh Syndrome:

idTitleAuthorsYear
1
MR imaging of shaken baby syndrome manifested as chronic subdural hematoma. (11752989)
2001

Variations for Mitochondrial Dna-Associated Leigh Syndrome

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Expression for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome

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

Pathways for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome

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

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

idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.4MT-ND4, MT-ND5
2respiratory electron transport chainGO:00229049.8MT-ND2, MT-ND3, NDUFAF2
3mitochondrial electron transport, NADH to ubiquinoneGO:00061209.4MT-ND2, MT-ND3, MT-ND4, MT-ND5, NDUFS3
4respiratory chain complex IV assemblyGO:00085359.3COX15, SURF1
5oxidation-reduction processGO:00551147.7MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.5NDUFAF2, NDUFS3

Sources for Mitochondrial Dna-Associated Leigh Syndrome

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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