MCID: MLT169
MIFTS: 9

Multiple Mitochondrial Dna Deletion Syndrome

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Mitochondrial Dna Deletion Syndrome

MalaCards integrated aliases for Multiple Mitochondrial Dna Deletion Syndrome:

Name: Multiple Mitochondrial Dna Deletion Syndrome 58
Multiple Mtdna Deletion Syndrome 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA254807

Summaries for Multiple Mitochondrial Dna Deletion Syndrome

MalaCards based summary : Multiple Mitochondrial Dna Deletion Syndrome, also known as multiple mtdna deletion syndrome, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4. Affiliated tissues include eye, bone and liver.

Related Diseases for Multiple Mitochondrial Dna Deletion Syndrome

Symptoms & Phenotypes for Multiple Mitochondrial Dna Deletion Syndrome

Drugs & Therapeutics for Multiple Mitochondrial Dna Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Mitochondrial Dna Deletion Syndrome

Genetic Tests for Multiple Mitochondrial Dna Deletion Syndrome

Anatomical Context for Multiple Mitochondrial Dna Deletion Syndrome

MalaCards organs/tissues related to Multiple Mitochondrial Dna Deletion Syndrome:

40
Eye, Bone, Liver

Publications for Multiple Mitochondrial Dna Deletion Syndrome

Articles related to Multiple Mitochondrial Dna Deletion Syndrome:

# Title Authors PMID Year
1
Animal models for mitochondrial disease. 61
12013805 2002
2
Mitochondrial cytopathies and neuromuscular disorders. 61
11098288 2000

Variations for Multiple Mitochondrial Dna Deletion Syndrome

Expression for Multiple Mitochondrial Dna Deletion Syndrome

Search GEO for disease gene expression data for Multiple Mitochondrial Dna Deletion Syndrome.

Pathways for Multiple Mitochondrial Dna Deletion Syndrome

GO Terms for Multiple Mitochondrial Dna Deletion Syndrome

Sources for Multiple Mitochondrial Dna Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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