MCID: MTC112
MIFTS: 13

Mitochondrial Dna-Associated Leigh Syndrome

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 49
Maternally Inherited Leigh Syndrome 49 69
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 49
Leigh Disease, Maternally Inherited 49
Mils 49

Classifications:



External Ids:

UMLS 69 C2931092

Summaries for Mitochondrial Dna-Associated Leigh Syndrome

NIH Rare Diseases : 49 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 maternally inherited leigh syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and leigh syndrome. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and brain.

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna-associated leigh syndrome and narp 12.5
2 leigh syndrome 11.6

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

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:

38
Kidney, Heart, Brain

Publications for Mitochondrial Dna-Associated Leigh Syndrome

Articles related to Mitochondrial Dna-Associated Leigh Syndrome:

# Title Authors Year
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP ( 20301352 )
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

Sources for Mitochondrial Dna-Associated Leigh Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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