MCID: MTC115
MIFTS: 14

Mitochondrial Myopathy, Lethal, Infantile

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Myopathy, Lethal, Infantile

MalaCards integrated aliases for Mitochondrial Myopathy, Lethal, Infantile:

Name: Mitochondrial Myopathy, Lethal, Infantile 57 73
Lethal Infantile Mitochondrial Myopathy 59 29
Limm 57 59
Myopathy, Mitochondrial, Lethal, Infantile 40
Lethal Infantile Mitochondrial Disease 59
Limd 59

Characteristics:

Orphanet epidemiological data:

59
lethal infantile mitochondrial myopathy
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
mitochondrial

Miscellaneous:
described in 3 unrelated infants (last curated january 2013)
death in early infancy


HPO:

32
mitochondrial myopathy, lethal, infantile:
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 551000
Orphanet 59 ORPHA254857
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 74 C1838876
MedGen 42 C1838876
SNOMED-CT via HPO 69 190882007 91273001 129565002
UMLS 73 C1838876

Summaries for Mitochondrial Myopathy, Lethal, Infantile

MalaCards based summary : Mitochondrial Myopathy, Lethal, Infantile, is also known as lethal infantile mitochondrial myopathy. An important gene associated with Mitochondrial Myopathy, Lethal, Infantile is MT-TT (Mitochondrially Encoded TRNA Threonine). Related phenotypes are lactic acidosis and myopathy

Description from OMIM: 551000

Related Diseases for Mitochondrial Myopathy, Lethal, Infantile

Symptoms & Phenotypes for Mitochondrial Myopathy, Lethal, Infantile

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, mitochondrial

Laboratory Abnormalities:
mutant mtdna threonine transfer rna gene (mttt, ) of questionable etiology
variable respiratory chain enzyme deficiency

Metabolic Features:
lactic acidosis


Clinical features from OMIM:

551000

Human phenotypes related to Mitochondrial Myopathy, Lethal, Infantile:

32
# Description HPO Frequency HPO Source Accession
1 lactic acidosis 32 HP:0003128
2 myopathy 32 HP:0003198
3 lethal infantile mitochondrial myopathy 32 HP:0009069

Drugs & Therapeutics for Mitochondrial Myopathy, Lethal, Infantile

Search Clinical Trials , NIH Clinical Center for Mitochondrial Myopathy, Lethal, Infantile

Genetic Tests for Mitochondrial Myopathy, Lethal, Infantile

Genetic tests related to Mitochondrial Myopathy, Lethal, Infantile:

# Genetic test Affiliating Genes
1 Lethal Infantile Mitochondrial Myopathy 29 MT-TT

Anatomical Context for Mitochondrial Myopathy, Lethal, Infantile

Publications for Mitochondrial Myopathy, Lethal, Infantile

Variations for Mitochondrial Myopathy, Lethal, Infantile

Expression for Mitochondrial Myopathy, Lethal, Infantile

Search GEO for disease gene expression data for Mitochondrial Myopathy, Lethal, Infantile.

Pathways for Mitochondrial Myopathy, Lethal, Infantile

GO Terms for Mitochondrial Myopathy, Lethal, Infantile

Sources for Mitochondrial Myopathy, Lethal, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....