COXPD49
MCID: CMB105
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 49 (COXPD49)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 49

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 49:

Name: Combined Oxidative Phosphorylation Deficiency 49 57 12 72 6
Coxpd49 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
one patient has been reported (last curated september 2020)


HPO:

31
combined oxidative phosphorylation deficiency 49:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112110
OMIM® 57 619024
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
MedGen 41 CN283408

Summaries for Combined Oxidative Phosphorylation Deficiency 49

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 49: An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 49, is also known as coxpd49. An important gene associated with Combined Oxidative Phosphorylation Deficiency 49 is MIEF2 (Mitochondrial Elongation Factor 2). Related phenotypes are elevated serum creatine kinase and ragged-red muscle fibers

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2.

More information from OMIM: 619024 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 49

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 49

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 49:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 very rare (1%) HP:0003236
2 ragged-red muscle fibers 31 very rare (1%) HP:0003200
3 myalgia 31 very rare (1%) HP:0003326
4 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
5 difficulty walking 31 very rare (1%) HP:0002355
6 progressive muscle weakness 31 very rare (1%) HP:0003323
7 difficulty climbing stairs 31 very rare (1%) HP:0003551
8 exercise intolerance 31 very rare (1%) HP:0003546
9 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
10 decreased activity of mitochondrial complex iii 31 very rare (1%) HP:0011924
11 decreased activity of mitochondrial complex ii 31 very rare (1%) HP:0008314
12 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle weakness
exercise intolerance
muscle pain
ragged red fibers seen on muscle biopsy
elevated mitochondrial mass
more
Laboratory Abnormalities:
increased serum creatine kinase
elongated mitochondria (fibroblasts)
abnormal cristae
increased mtdna
impaired mitochondrial fission

Clinical features from OMIM®:

619024 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 49

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 49

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 49

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 49

Publications for Combined Oxidative Phosphorylation Deficiency 49

Articles related to Combined Oxidative Phosphorylation Deficiency 49:

# Title Authors PMID Year
1
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. 57 6
29361167 2018

Variations for Combined Oxidative Phosphorylation Deficiency 49

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 49:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIEF2 NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter) SNV Pathogenic 978475 GRCh37: 17:18166493-18166493
GRCh38: 17:18263179-18263179

Expression for Combined Oxidative Phosphorylation Deficiency 49

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 49.

Pathways for Combined Oxidative Phosphorylation Deficiency 49

GO Terms for Combined Oxidative Phosphorylation Deficiency 49

Sources for Combined Oxidative Phosphorylation Deficiency 49

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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