MCID: MTC198
MIFTS: 6

Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

MalaCards integrated aliases for Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes:

Name: Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 58 6

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA309136

Summaries for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

MalaCards based summary : Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes An important gene associated with Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes is NDUFB7 (NADH:Ubiquinone Oxidoreductase Subunit B7).

Related Diseases for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Diseases in the Mitochondrial Disorders family:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease
Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis

Symptoms & Phenotypes for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Drugs & Therapeutics for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes

Genetic Tests for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Anatomical Context for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Publications for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Articles related to Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes:

# Title Authors PMID Year
1
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. 6
33502047 2021

Variations for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

ClinVar genetic disease variations for Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB7 NM_004146.6(NDUFB7):c.113-10C>G SNV Likely pathogenic 997769 GRCh37: 19:14677755-14677755
GRCh38: 19:14566943-14566943

Expression for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Search GEO for disease gene expression data for Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes.

Pathways for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

GO Terms for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

Sources for Mitochondrial Disorder Due to a Defect in Assembly or Maturation...

3 CDC
7 CNVD
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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