MCID: MTR017
MIFTS: 48

Maternally Inherited Leigh Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Maternally Inherited Leigh Syndrome

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NIH Rare Diseases:43 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 neuropathy, ataxia, and retinitis pigmentosa, is related to leigh syndrome and mitochondrial dna-associated leigh syndrome and narp, and has symptoms including retinitis pigmentosa, blindness and nystagmus. An important gene associated with Maternally Inherited Leigh Syndrome is MT-ATP6 (mitochondrially encoded ATP synthase 6), and among its related pathways are Cardiac muscle contraction and Alzheimer's disease. The compounds rotenone and cholic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina.

Genetics Home Reference:23 Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate.

Description from OMIM:47 551500

Aliases & Classifications for Maternally Inherited Leigh Syndrome

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Sources:
43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 49Orphanet, 47OMIM, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Maternally Inherited Leigh Syndrome, Aliases & Descriptions:

Name: Maternally Inherited Leigh Syndrome 43 62
Neuropathy, Ataxia, and Retinitis Pigmentosa 23 47 24
Narp Syndrome 43 23 49
Narp 43 22 23
Mils 43 49 62
Neurogenic Muscle Weakness - Ataxia - Retinitis Pigmentosa 43 49
Neuropathy - Ataxia - Retinitis Pigmentosa 43 49
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 49
 
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 43
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 23
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 43
Neuropathy, Ataxia, and Retinitis Pigmentos 23
Maternally-Inherited Leigh Syndrome 49
Leigh Disease, Maternally Inherited 43
Maternally-Inherited Leigh Disease 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult
mils:
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 644, 255210
ICD10 via Orphanet28 G31.8
UMLS via Orphanet63 C1328349, C2931092

Related Diseases for Maternally Inherited Leigh Syndrome

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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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Symptoms by clinical synopsis from OMIM:

551500

Clinical features from OMIM:

551500

HPO human phenotypes related to Maternally Inherited Leigh Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 retinitis pigmentosa HP:0000510
2 blindness HP:0000618
3 nystagmus HP:0000639
4 dementia HP:0000726
5 sensory neuropathy HP:0000763
6 seizures HP:0001250
7 ataxia HP:0001251
8 global developmental delay HP:0001263
9 mitochondrial inheritance HP:0001427
10 myopathy HP:0003198
11 proximal muscle weakness HP:0003701
12 mitochondrial myopathy HP:0003737
13 corticospinal tract atrophy HP:0007117
14 salt and pepper retinopathy HP:0007814

Drugs & Therapeutics for Maternally Inherited Leigh Syndrome

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Drug clinical trials:

Search ClinicalTrials for Maternally Inherited Leigh Syndrome

Search NIH Clinical Center for Maternally Inherited Leigh Syndrome

Genetic Tests for Maternally Inherited Leigh Syndrome

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Genetic tests related to Maternally Inherited Leigh Syndrome:

id Genetic test Affiliating Genes
1 Narp22
2 Neuropathy Ataxia Retinitis Pigmentosa Syndrome24

Anatomical Context for Maternally Inherited Leigh Syndrome

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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

33
Eye, Brain, Retina, Heart, Kidney

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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Clinvar genetic disease variations for Maternally Inherited Leigh Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MT-ATP6m.8993T> Gsingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
2MT-ATP6m.8618dupTduplicationPathogenicrs387906423GRCh37Chr MT, 8618: 8619

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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Compounds for genes affiliated with Maternally Inherited Leigh Syndrome

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Sources:
45Novoseek, 30IUPHAR, 26HMDB, 13DrugBank
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Compounds related to Maternally Inherited Leigh Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1rotenone459.8MT-ND6, MT-ND1
2cholic acid45 30 26 1312.7MT-CO2, MT-CO3, MT-CO1
3solium459.7MT-ND1, MT-CO1, MT-ATP6
4citrate459.6MT-CO2, MT-CO3, MT-CO1
5proline459.5MT-ATP6, MT-ND3, MT-ND1
6isoleucine459.4MT-ND6, MT-ND4
7methionine459.4MT-ND1, MT-ND6, MT-ND2, MT-ND5
8succinate459.3MT-ND4, MT-CO1
9hydrogen45 2610.2MT-ATP6, MT-CO2, MT-CO1
10oxygen45 2610.2MT-CO1, MT-ND6, MT-CO2, MT-ND2, MT-ATP6
11alanine459.1MT-ND1, MT-ND6, MT-ND2, MT-ND3, MT-ND5
12pyruvate459.0MT-ND4, MT-ND1, MT-ND3
13Sulfide268.9MT-ND2, MT-ND6, MT-ND1, MT-ND4
14QH2268.8MT-ND2, MT-ND6, MT-ND1, MT-ND4
15Ubiquinone Q2268.8MT-ND4, MT-ND1, MT-ND6, MT-ND2
16lactate458.8MT-CO2, MT-ND1, MT-ND4
17FAD268.8MT-ND4, MT-ND1, MT-ND6, MT-ND2
18valine458.6MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND5
19threonine458.6MT-ND5, MT-ND3, MT-ND2, MT-ND1, MT-ND4
20iron45 269.4MT-ND4, MT-ND1, MT-CO1, MT-ND6, MT-ND2
21Ubiquinol 8268.4MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND3, MT-ND5
22Ubiquinone Q1268.4MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND3, MT-ND5
23nad30 269.4MT-ND4, MT-ND1, MT-ND6, MT-ND2, MT-ND3, MT-ND5
24glucose458.3MT-ND4, MT-ND1, MT-CO1, MT-CO3
25atp45 308.4PEX6, MT-ND4, MT-ND1, MT-CO1, MT-CO3, MT-CO2
26nadh45 26 139.1MT-ND5, MT-ND4, MT-ND1, MT-CO1, MT-ATP6, MT-ND3

GO Terms for genes affiliated with Maternally Inherited Leigh Syndrome

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Products for genes affiliated with Maternally Inherited Leigh Syndrome

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Sources for Maternally Inherited Leigh Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet