MCID: MTR017
MIFTS: 42

Maternally Inherited Leigh Syndrome malady

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

Aliases & Classifications for Maternally Inherited Leigh Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 46OMIM, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Maternally Inherited Leigh Syndrome:

Name: Maternally Inherited Leigh Syndrome 42 61
Neuropathy, Ataxia, and Retinitis Pigmentosa 21 46 22
Narp Syndrome 42 21 48
Narp 42 20 21
Mils 42 48 61
Neurogenic Muscle Weakness - Ataxia - Retinitis Pigmentosa 42 48
Neuropathy - Ataxia - Retinitis Pigmentosa 42 48
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 48
 
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 42
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 21
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 42
Neuropathy, Ataxia, and Retinitis Pigmentos 21
Neuropathy Ataxia and Retinis Pigmentosa 61
Maternally-Inherited Leigh Syndrome 48
Leigh Disease, Maternally Inherited 42
Maternally-Inherited Leigh Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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:

Orphanet48 644, 255210
ICD10 via Orphanet26 G31.8
UMLS via Orphanet62 C1328349, C2931092

Summaries for Maternally Inherited Leigh Syndrome

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NIH Rare Diseases:42 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:21 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:46 551500

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 Narp20
2 Neuropathy Ataxia Retinitis Pigmentosa Syndrome22

Anatomical Context for Maternally Inherited Leigh Syndrome

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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

31
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:

5
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:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Maternally Inherited Leigh Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1rotenone449.8MT-ND1, MT-ND6
2cholic acid44 28 24 1112.7MT-CO3, MT-CO1, MT-CO2
3solium449.7MT-ND1, MT-ATP6, MT-CO1
4citrate449.6MT-CO1, MT-CO3, MT-CO2
5proline449.5MT-ND1, MT-ATP6, MT-ND3
6isoleucine449.4MT-ND6, MT-ND4
7methionine449.4MT-ND6, MT-ND1, MT-ND5, MT-ND2
8succinate449.3MT-CO1, MT-ND4
9hydrogen44 2410.2MT-CO2, MT-CO1, MT-ATP6
10oxygen44 2410.2MT-CO1, MT-ND6, MT-CO2, MT-ND2, MT-ATP6
11alanine449.1MT-ND5, MT-ND3, MT-ND2, MT-ND1, MT-ND6
12pyruvate449.0MT-ND4, MT-ND1, MT-ND3
13Sulfide248.9MT-ND4, MT-ND1, MT-ND2, MT-ND6
14QH2248.8MT-ND1, MT-ND4, MT-ND6, MT-ND2
15Ubiquinone Q2248.8MT-ND4, MT-ND2, MT-ND6, MT-ND1
16lactate448.8MT-CO2, MT-ND1, MT-ND4
17FAD248.8MT-ND6, MT-ND1, MT-ND4, MT-ND2
18valine448.6MT-ND5, MT-ND6, MT-ND1, MT-ND4, MT-ND2
19threonine448.6MT-ND2, MT-ND5, MT-ND4, MT-ND3, MT-ND1
20iron44 249.4MT-ND4, MT-ND1, MT-CO1, MT-ND6, MT-ND2
21Ubiquinol 8248.4MT-ND5, MT-ND2, MT-ND6, MT-ND1, MT-ND4, MT-ND3
22Ubiquinone Q1248.4MT-ND2, MT-ND5, MT-ND3, MT-ND6, MT-ND1, MT-ND4
23nad28 249.4MT-ND6, MT-ND4, MT-ND2, MT-ND3, MT-ND1, MT-ND5
24glucose448.3MT-CO3, MT-CO1, MT-ND1, MT-ND4
25atp44 288.4MT-ND1, MT-CO1, MT-CO3, MT-CO2, MT-ATP6, MT-ND5
26nadh44 24 119.1MT-CO3, MT-ND2, MT-ND6, MT-CO2, MT-CO1, MT-ND1

GO Terms for genes affiliated with Maternally Inherited Leigh Syndrome

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Sources for Maternally Inherited Leigh Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet