COXPD50
MCID: CMB106
MIFTS: 17

Combined Oxidative Phosphorylation Deficiency 50 (COXPD50)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 50

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 50:

Name: Combined Oxidative Phosphorylation Deficiency 50 57 12 72 6
Coxpd50 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
progressive disorder
one patient has been reported (last curated september 2020)


HPO:

31
combined oxidative phosphorylation deficiency 50:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 50

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 50: An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 50, is also known as coxpd50. An important gene associated with Combined Oxidative Phosphorylation Deficiency 50 is MRPS25 (Mitochondrial Ribosomal Protein S25). Related phenotypes are dysphagia and global developmental delay

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS25 on chromosome 3p25.1.

More information from OMIM: 619025 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 50

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 50

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 50:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 very rare (1%) HP:0002015
2 global developmental delay 31 very rare (1%) HP:0001263
3 hip dysplasia 31 very rare (1%) HP:0001385
4 microcephaly 31 very rare (1%) HP:0000252
5 short stature 31 very rare (1%) HP:0004322
6 intrauterine growth retardation 31 very rare (1%) HP:0001511
7 partial agenesis of the corpus callosum 31 very rare (1%) HP:0001338
8 generalized dystonia 31 very rare (1%) HP:0007325
9 poor head control 31 very rare (1%) HP:0002421
10 adrenal insufficiency 31 very rare (1%) HP:0000846
11 brisk reflexes 31 very rare (1%) HP:0001348
12 delayed ability to walk 31 very rare (1%) HP:0031936
13 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
14 delayed ability to roll over 31 very rare (1%) HP:0032989
15 delayed ability to crawl 31 very rare (1%) HP:0033128

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
dysphagia

Skeletal Pelvis:
hip dysplasia

Growth Other:
intrauterine growth retardation
poor overall growth

Endocrine Features:
adrenal insufficiency

Laboratory Abnormalities:
impaired mitochondrial translation
mildly increased plasma lactate
combined mitochondrial oxidative phosphorylation deficiency in fibroblasts

Muscle Soft Tissue:
muscle weakness
hypotonia
muscle fatigue
complex iv deficiency seen on muscle biopsy
increased lipid content

Growth Height:
short stature

Neurologic Central Nervous System:
dystonia
partial agenesis of the corpus callosum
poor head control
choreoathetosis
difficulty walking
more
Head And Neck Head:
small head circumference

Clinical features from OMIM®:

619025 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 50

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 50

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 50

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 50

Publications for Combined Oxidative Phosphorylation Deficiency 50

Articles related to Combined Oxidative Phosphorylation Deficiency 50:

# Title Authors PMID Year
1
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. 57 6
31039582 2019

Variations for Combined Oxidative Phosphorylation Deficiency 50

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 50:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS25 NM_022497.5(MRPS25):c.215C>T (p.Pro72Leu) SNV Pathogenic 978474 GRCh37: 3:15100902-15100902
GRCh38: 3:15059395-15059395

Expression for Combined Oxidative Phosphorylation Deficiency 50

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 50.

Pathways for Combined Oxidative Phosphorylation Deficiency 50

GO Terms for Combined Oxidative Phosphorylation Deficiency 50

Sources for Combined Oxidative Phosphorylation Deficiency 50

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
Content
Loading form....