MILS
MCID: MTC112
MIFTS: 32

Mitochondrial Dna-Associated Leigh Syndrome (MILS)

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome

MalaCards integrated aliases for Mitochondrial Dna-Associated Leigh Syndrome:

Name: Mitochondrial Dna-Associated Leigh Syndrome 20
Maternally Inherited Leigh Syndrome 20 71
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 20
Leigh Disease, Maternally Inherited 20
Mils 20

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome

GARD : 20 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.

MalaCards based summary : Mitochondrial Dna-Associated Leigh Syndrome, also known as maternally inherited leigh syndrome, is related to leigh syndrome and mitochondrial dna-associated leigh syndrome and narp. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Prion disease. The drugs Meropenem and Colistin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are increased csf lactate and abnormality of krebs cycle metabolism

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

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



Diseases related to Mitochondrial Dna-Associated Leigh Syndrome

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome

Human phenotypes related to Mitochondrial Dna-Associated Leigh Syndrome:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 increased csf lactate 31 hallmark (90%) HP:0002490
2 abnormality of krebs cycle metabolism 31 hallmark (90%) HP:0000816
3 spasticity 31 frequent (33%) HP:0001257
4 failure to thrive 31 frequent (33%) HP:0001508
5 muscle weakness 31 frequent (33%) HP:0001324
6 chorea 31 frequent (33%) HP:0002072
7 dyskinesia 31 frequent (33%) HP:0100660
8 increased serum lactate 31 frequent (33%) HP:0002151
9 dystonia 31 frequent (33%) HP:0001332
10 severe global developmental delay 31 frequent (33%) HP:0011344
11 ophthalmoparesis 31 frequent (33%) HP:0000597
12 gait ataxia 31 frequent (33%) HP:0002066
13 pigmentary retinopathy 31 frequent (33%) HP:0000580
14 infantile muscular hypotonia 31 frequent (33%) HP:0008947
15 sensorimotor neuropathy 31 frequent (33%) HP:0007141
16 episodic vomiting 31 frequent (33%) HP:0002572
17 focal t2 hyperintense basal ganglia lesion 31 frequent (33%) HP:0007183
18 lacticaciduria 31 frequent (33%) HP:0003648
19 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
20 generalized myoclonic seizure 31 frequent (33%) HP:0002123
21 hyperreflexia 31 occasional (7.5%) HP:0001347
22 nystagmus 31 occasional (7.5%) HP:0000639
23 dysphagia 31 occasional (7.5%) HP:0002015
24 hypothermia 31 occasional (7.5%) HP:0002045
25 developmental regression 31 occasional (7.5%) HP:0002376
26 hepatomegaly 31 occasional (7.5%) HP:0002240
27 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
28 optic atrophy 31 occasional (7.5%) HP:0000648
29 fever 31 occasional (7.5%) HP:0001945
30 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
31 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
32 bulbar signs 31 occasional (7.5%) HP:0002483
33 apnea 31 occasional (7.5%) HP:0002104
34 hepatic failure 31 occasional (7.5%) HP:0001399
35 hyporeflexia 31 occasional (7.5%) HP:0001265
36 infantile spasms 31 occasional (7.5%) HP:0012469
37 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
38 mitochondrial myopathy 31 occasional (7.5%) HP:0003737
39 demyelinating peripheral neuropathy 31 occasional (7.5%) HP:0007108
40 hyperalaninemia 31 occasional (7.5%) HP:0003348
41 hyperventilation 31 occasional (7.5%) HP:0002883
42 segmental peripheral demyelination/remyelination 31 occasional (7.5%) HP:0003481
43 cardiac conduction abnormality 31 occasional (7.5%) HP:0031546
44 episodic respiratory distress 31 occasional (7.5%) HP:0004885
45 abnormal speech prosody 31 occasional (7.5%) HP:0031434
46 multiple glomerular cysts 31 occasional (7.5%) HP:0100611
47 abnormal renal tubule morphology 31 occasional (7.5%) HP:0000091
48 ragged-red muscle fibers 31 very rare (1%) HP:0003200
49 low plasma citrulline 31 very rare (1%) HP:0003572

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome

Drugs for Mitochondrial Dna-Associated Leigh Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 64778 441130
2
Colistin Approved Phase 4 1066-17-7, 1264-72-8 5311054
3 Anti-Infective Agents Phase 4
4 Anti-Bacterial Agents Phase 4
5
Oprelvekin Approved, Investigational Phase 3 145941-26-0
6
Albendazole Approved, Vet_approved Phase 3 54965-21-8 2082
7
Azithromycin Approved Phase 3 83905-01-5 55185 447043
8 Antibiotics, Antitubercular Phase 3
9 Soy Bean Phase 3
10 Antiparasitic Agents Phase 3
11 Tubulin Modulators Phase 3
12 Anthelmintics Phase 3
13 Antiprotozoal Agents Phase 3
14 Antimitotic Agents Phase 3
15
Lenalidomide Approved Phase 2 191732-72-6 216326
16
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
17
nivolumab Approved Phase 2 946414-94-4
18 Antineoplastic Agents, Immunological Phase 2
19
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
20
Racepinephrine Approved 329-65-7 838
21
Lidocaine Approved, Vet_approved 137-58-6 3676
22
Epinephrine Approved, Vet_approved 51-43-4 5816
23
Oxymetazoline Approved, Investigational 1491-59-4 4636
24
Phenylephrine Approved 59-42-7 6041
25
Pembrolizumab Approved Early Phase 1 1374853-91-4
26 Epinephryl borate
27 Pharmaceutical Solutions
28 Insulin, Globin Zinc
29 Anesthetics
30 insulin
31 Liver Extracts

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Multicenter Open-label RCT to Compare Colistin Alone vs. Colistin Plus Meropenem Completed NCT01732250 Phase 4 Colistin;Meropenem
2 Multicenter, Randomized Phase Ⅲa Study of Genetically Modified Recombinant Human Interleukin-11 to Prevent Chemotherapy-induced Thrombocytopenia in Cancer Patients Receiving Chemotherapy. Completed NCT01663441 Phase 3 NL201;NL201;NL201;rhIL-11
3 A Multi-center, Randomized Controlled Comparison of Three Renutrition Strategies for the Management of Moderate Acute Malnutrition Among Children From 6 to 24 Months (Madagascar, Niger, Central African Republic and Senegal) Completed NCT03474276 Phase 3 Azythromycin;Albendazole
4 Empowering Daughters and Mother-in-laws to Mitigate Gender-based Violence and Promote Women's Health in India Completed NCT01337778 Phase 2
5 Randomized Phase II Study of Autologous Stem Cell Transplantation With Tadalafil and Lenalidomide Maintenance With or Without Activated Marrow Infiltrating Lymphocytes (MILs) in High Risk Myeloma Completed NCT01858558 Phase 2 No aMIL
6 Efficiency Evaluation of Allogenic Umbilical Cord Blood (UCB) Transfusion in Patients With Autism Completed NCT03786744 Phase 1, Phase 2
7 A Phase 2a, Open-Label, Multi-Center Study to Assess the Efficacy and Safety of Marrow Infiltrating Lymphocytes - Non-Small Cell Lung Cancer (MILs™ - NSCLC) Alone or in Combination With Nivolumab in Subjects With Locally Advanced and Unresectable or Metastatic NSCLC Previously Treated With Anti-PD-1 Recruiting NCT04069936 Phase 2
8 Efficiency Evaluation of Allogenic Umbilical Cord Blood Mononuclear Cells (UCB-MNC) Transfusion in Patients With Autism Active, not recruiting NCT03826498 Phase 2
9 Adoptive Immunotherapy Utilizing Activated Marrow Infiltrating Lymphocytes Derived From Patients With Bone Marrow Relapse of Hematologic Malignancies After Allogeneic Hematopoietic Cell Transplantation Using Post-Transplantation Cyclophosphamide Graft-Versus-Host Disease Prophylaxis. Recruiting NCT02342613 Phase 1
10 Optimal Time Delay of Epinephrine Injection With "One-per-mil" Tumescent Solution to Visualize Operation Field in Hand Surgery Without Tourniquet Unknown status NCT02033681
11 A Randomized Controlled Study of Preoperative Oral Carbohydrate Loading Versus Fasting in Patients Undergoing Colorectal Surgery Completed NCT03793036
12 Stepped Enhancement of PTSD Services Using Primary Care (STEPS UP): A Randomized Effectiveness Trial Completed NCT01492348
13 Randomized Controlled Trial of a Mindfulness Intervention for Labor-Related Pain and Fear Completed NCT02327559
14 Comparison of the McGrath Videolaryngoscope and the Pentax-AWS With the Macintosh Laryngoscope for Nasotracheal Intubation in Patients With Manual In-line Stabilization Completed NCT02647606
15 Minimally Invasive Liver Surgery for Metastases From Colorectal Cancer: Oncologic Outcome and Prognostic Factors Completed NCT01356706
16 Mil Familias- Santa Barbara Operational Pilot Completed NCT03736486
17 A Brief Intervention to Reduce Suicide Risk in Military Service Members and Veterans - Study 2 Completed NCT01360736
18 Autonomic Adaptation to Hydration and Brain Functioning Completed NCT03525470
19 Randomized Trials of Kangaroo Mother Care With Plastic Bag to Prevent Neonatal Hypothermia in Preterm Infants (Trial 2A and 2B) Completed NCT03141723
20 Psychosocial Rehabilitation After Moral Injury and Loss With Adaptive Disclosure Recruiting NCT03056157
21 Mil Familias: an Observational Cohort Study to Understand the Impact of Genetics, Biology, Behavior, Psychology, and Society/Environment on Diabetes and Its Complications Among US Latinos Enrolling by invitation NCT03830840
22 Screening of Gastrointestinal Tract Bleeding Causes Among Chronic Renal Failure Patients in Assuit University in a Single Study Center Not yet recruiting NCT04491669
23 A Pilot Study to Assess the Feasibility of Expanding Marrow Infiltrating Lymphocytes (MILs™) From Bone Marrow in Non-Small Cell Lung Cancer (NSCLC) and Small Cell Lung Cancer (SCLC) and Subsequently the Efficacy and Safety of MILs™ in Combination With Pembrolizumab in Patients With NSCLC and SCLC Not yet recruiting NCT04677361 Early Phase 1

Search NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome

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

40
Bone Marrow, Bone, Liver, Lung

Publications for Mitochondrial Dna-Associated Leigh Syndrome

Articles related to Mitochondrial Dna-Associated Leigh Syndrome:

(show all 28)
# Title Authors PMID Year
1
Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome. 61
31276579 2019
2
Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy. 61
30868108 2019
3
Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations. 61
31139141 2019
4
Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant. 61
30023306 2018
5
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. 61
29602698 2018
6
Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration. 61
27008180 2016
7
Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. 61
22819295 2012
8
Mitochondrial DNA mutations provoke dominant inhibition of mitochondrial inner membrane fusion. 61
23166736 2012
9
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. 61
20472868 2010
10
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea. 61
19669818 2010
11
Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. 61
20547844 2010
12
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. 61
20202874 2010
13
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. 61
19667215 2009
14
Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family. 61
19433277 2009
15
Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients. 61
19269308 2009
16
A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene. 61
17855363 2007
17
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. 61
17663470 2007
18
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. 61
17587249 2007
19
ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization. 61
17121862 2007
20
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis. 61
15228605 2004
21
Mitochondrial DNA-Associated Leigh Syndrome and NARP 61
20301352 2003
22
[Maternally inherited Leigh syndrome]. 61
12013906 2002
23
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. 61
11925565 2002
24
Pathogenesis of primary defects in mitochondrial ATP synthesis. 61
11735378 2001
25
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. 61
11108511 2000
26
Human mitochondrial diseases: answering questions and questioning answers. 61
9770297 1999
27
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. 61
8726250 1996
28
Maternally inherited Leigh syndrome. 61
8095070 1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome

Expression for Mitochondrial Dna-Associated Leigh Syndrome

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

Pathways for Mitochondrial Dna-Associated Leigh Syndrome

GO Terms for Mitochondrial Dna-Associated Leigh Syndrome

Cellular components related to Mitochondrial Dna-Associated Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.62 SDHA MT-ATP6

Sources for Mitochondrial Dna-Associated Leigh Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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