COXPD43
MCID: CMB099
MIFTS: 12

Combined Oxidative Phosphorylation Deficiency 43 (COXPD43)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 43

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 43:

Name: Combined Oxidative Phosphorylation Deficiency 43 56 6
Coxpd43 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient has been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618851
OMIM Phenotypic Series 56 PS609060

Summaries for Combined Oxidative Phosphorylation Deficiency 43

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 43, is also known as coxpd43. An important gene associated with Combined Oxidative Phosphorylation Deficiency 43 is TIMM22 (Translocase Of Inner Mitochondrial Membrane 22). Affiliated tissues include brain.

More information from OMIM: 618851 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 43

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 43

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Growth Other:
intrauterine growth retardation
poor overall growth

Neurologic Central Nervous System:
delayed myelination on brain imaging

Muscle Soft Tissue:
myopathy
hypotonia
decreased activities of mitochondrial respiratory complexes i, iii, and iv

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
mitochondrial fragmentation in fibroblasts

Clinical features from OMIM:

618851

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 43

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 43

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 43

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 43

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 43:

40
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 43

Articles related to Combined Oxidative Phosphorylation Deficiency 43:

# Title Authors PMID Year
1
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. 56 6
30452684 2018
2
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 56 6
22638997 2012

Variations for Combined Oxidative Phosphorylation Deficiency 43

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 43:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIMM22 NM_013337.2:c.74C>ASNV Pathogenic 869638
2 TIMM22 NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)SNV Pathogenic 869639 17:900479-900479 17:997239-997239

Expression for Combined Oxidative Phosphorylation Deficiency 43

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 43.

Pathways for Combined Oxidative Phosphorylation Deficiency 43

GO Terms for Combined Oxidative Phosphorylation Deficiency 43

Sources for Combined Oxidative Phosphorylation Deficiency 43

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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