COXPD42
MCID: CMB098
MIFTS: 13

Combined Oxidative Phosphorylation Deficiency 42 (COXPD42)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 42

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 42:

Name: Combined Oxidative Phosphorylation Deficiency 42 56 6
Coxpd42 56

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset in the first months of life
two unrelated consanguineous families of druze origin have been reported (last curated april 2020)

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618839
OMIM Phenotypic Series 56 PS609060

Summaries for Combined Oxidative Phosphorylation Deficiency 42

OMIM : 56 Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory insufficiency, lactic metabolic acidosis, and anemia in the first months of life. Patient tissue shows variable impairment of mitochondrial oxidative phosphorylation affecting mtDNA-encoded subunits I, III, and IV. All reported affected infants have died in the first year of life (summary by Friederich et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618839)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 42, is also known as coxpd42. An important gene associated with Combined Oxidative Phosphorylation Deficiency 42 is GATC (Glutamyl-TRNA Amidotransferase Subunit C). Affiliated tissues include heart and liver.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 42

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 42

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Hematology:
anemia

Metabolic Features:
lactic acidosis

Abdomen Liver:
elevated liver enzymes

Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
pericardial effusion
heart failure

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
ketonuria
increased creatine kinase
increased serum alanine
variably decreased activities of complexes i, iii, and iv in various tissues
high urinary lactate
more

Clinical features from OMIM:

618839

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 42

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 42

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 42

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 42

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 42:

40
Heart, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 42

Articles related to Combined Oxidative Phosphorylation Deficiency 42:

# Title Authors PMID Year
1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 6 56
30283131 2018

Variations for Combined Oxidative Phosphorylation Deficiency 42

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 42:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATC NM_176818.3(GATC):c.233T>G (p.Met78Arg)SNV Pathogenic 559417 rs1370579526 12:120884611-120884611 12:120446808-120446808

Expression for Combined Oxidative Phosphorylation Deficiency 42

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 42.

Pathways for Combined Oxidative Phosphorylation Deficiency 42

GO Terms for Combined Oxidative Phosphorylation Deficiency 42

Sources for Combined Oxidative Phosphorylation Deficiency 42

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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