MCID: MTR017
MIFTS: 30

Maternally Inherited Leigh Syndrome malady

Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Maternally Inherited Leigh Syndrome

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Sources:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Maternally Inherited Leigh Syndrome:

Name: Maternally Inherited Leigh Syndrome 45 65
Mils 45 51 65
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 51
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 45
 
Neuropathy Ataxia and Retinis Pigmentosa 65
Maternally-Inherited Leigh Syndrome 51
Leigh Disease, Maternally Inherited 45
Maternally-Inherited Leigh Disease 51


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 255210
ICD10 via Orphanet28 G31.8
UMLS via Orphanet66 C2931092

Summaries for Maternally Inherited Leigh Syndrome

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NIH Rare Diseases:45 Maternally inherited leigh syndrome (mils) 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. mils 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 mils. 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 mils to their children. last updated: 12/29/2009

MalaCards based summary: Maternally Inherited Leigh Syndrome, also known as mils, is related to leigh syndrome and infantile apnea. An important gene associated with Maternally Inherited Leigh Syndrome is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways are tRNA Aminoacylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include kidney, heart and brain.

Related Diseases for Maternally Inherited Leigh Syndrome

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Diseases related to Maternally Inherited Leigh Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome28.4MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
2infantile apnea10.3
3digeorge syndrome 210.2MT-TK, MT-TL1
4mertk-related retinitis pigmentosa10.2MT-TK, MT-TL1
5maternally inherited leigh syndrome10.2MT-TK, MT-TL1
6ectropion10.2MT-ATP6, TNF
7parkinson disease 6, early onset10.1MT-ND5, MT-ND6
8congenital factor v deficiency10.1MT-ND5, MT-ND6
9morgagni cataract10.1MT-TV, MT-TW
10angioid streaks10.1MT-ATP6, MT-ND1
11encephalopathy due to prosaposin deficiency10.1MT-ND5, MT-ND6
12indeterminate leprosy10.1MT-ND3, MT-TL1
13optic papillitis10.0MT-ND4, TNF
14atypical follicular adenoma10.0MT-ND5, MT-TK, MT-TL1
15hypertension, essential10.0
16asthma10.0
17cholestasis, benign recurrent intrahepatic, 210.0
18burkitt lymphoma10.0
19multiple myeloma10.0
20asthma 110.0
21plasmacytic leukemia10.0
22lymphosarcoma10.0
23adult lymphoma10.0
24limb ischemia10.0
25blood protein disease10.0
26hypersensitivity reaction type iv disease10.0
27ischemia10.0
28myeloma10.0
29plasma cell neoplasm10.0
30vascular cancer10.0
31vascular hemostatic disease10.0
32factor v leiden thrombophilia10.0
33familial hypertension10.0
34plasma cell leukemia10.0
35primary malignant lymphoma10.0
36vascular malformation10.0
37back pain10.0
38optic atrophy plus syndrome10.0MT-ND4, MT-ND6
39olfactory nerve disease9.9MT-ND5, MT-TK
40retinal degeneration autosomal recessive clumped pigment type9.9MT-ND1, MT-ND2
41mitral valve disease9.9MT-ATP6, MT-ND3, MT-ND5, MT-ND6
42visual epilepsy9.8MT-ND1, MT-ND4, MT-ND5
43parkinson disease, late-onset9.8MT-ND1, MT-ND5, MT-TK
44leber miliary aneurysm9.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
45lagophthalmos9.6MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
46night blindness9.6MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
47mitochondrial metabolism disease9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1
48infant gynecomastia9.4MT-ATP6, MT-ND3, MT-ND5, MT-ND6, MT-TK, MT-TL1
49cranial nerve iii tumor9.3MT-ATP6, MT-ND1, MT-ND2, MT-ND4, MT-ND5, MT-ND6
50optic nerve glioma9.3MT-ATP6, MT-ND1, MT-ND2, MT-ND4, MT-ND5, MT-ND6

Graphical network of the top 20 diseases related to Maternally Inherited Leigh Syndrome:



Diseases related to maternally inherited leigh syndrome

Symptoms for Maternally Inherited Leigh Syndrome

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Drugs & Therapeutics for Maternally Inherited Leigh Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Maternally Inherited Leigh Syndrome

Genetic Tests for Maternally Inherited Leigh Syndrome

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Anatomical Context for Maternally Inherited Leigh Syndrome

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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

33
Kidney, Heart, Brain

Animal Models for Maternally Inherited Leigh Syndrome or affiliated genes

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Publications for Maternally Inherited Leigh Syndrome

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Articles related to Maternally Inherited Leigh Syndrome:

idTitleAuthorsYear
1
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea. (19669818)
2010
2
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. (20472868)
2010
3
Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family. (19433277)
2009
4
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis. (15228605)
2004
5
Maternally inherited Leigh syndrome. (8095070)
1993

Variations for Maternally Inherited Leigh Syndrome

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Expression for genes affiliated with Maternally Inherited Leigh Syndrome

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Search GEO for disease gene expression data for Maternally Inherited Leigh Syndrome.

Pathways for genes affiliated with Maternally Inherited Leigh Syndrome

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GO Terms for genes affiliated with Maternally Inherited Leigh Syndrome

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Cellular components related to Maternally Inherited Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:00057478.7MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
2mitochondrionGO:00057397.9MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND6
3mitochondrial inner membraneGO:00057437.6MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5

Biological processes related to Maternally Inherited Leigh Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.3MT-ND4, MT-ND5
2response to nicotineGO:003509410.3MT-ND4, MT-ND6
3response to hydrogen peroxideGO:004254210.3MT-ND5, MT-ND6
4mitochondrial electron transport, NADH to ubiquinoneGO:00061208.7MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
5respiratory electron transport chainGO:00229048.0MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
6cellular metabolic processGO:00442378.0MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
7oxidation-reduction processGO:00551147.8MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
8small molecule metabolic processGO:00442817.5MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5

Molecular functions related to Maternally Inherited Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081377.8MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6

Sources for Maternally Inherited 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