COXPD46
MCID: CMB102
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 46 (COXPD46)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 46

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 46:

Name: Combined Oxidative Phosphorylation Deficiency 46 57 12 72 29 6
Coxpd46 57 12 72
Combined Oxidative Phosphorylation Defiency 46 57

Characteristics:

OMIM®:

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

Miscellaneous:
one patient has been reported (last curated july, 2020)
clinical details were limited


HPO:

31
combined oxidative phosphorylation deficiency 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112115
OMIM® 57 618952
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
MedGen 41 CN283298
SNOMED-CT via HPO 68 258211005 75183008 77981007

Summaries for Combined Oxidative Phosphorylation Deficiency 46

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 46: An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 46, is also known as coxpd46. An important gene associated with Combined Oxidative Phosphorylation Deficiency 46 is MRPS23 (Mitochondrial Ribosomal Protein S23). Affiliated tissues include liver, and related phenotypes are decreased activity of mitochondrial complex i and decreased liver function

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22.

More information from OMIM: 618952 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 46

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 46

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 46:

31
# Description HPO Frequency HPO Source Accession
1 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
2 decreased liver function 31 very rare (1%) HP:0001410
3 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatic disease

Laboratory Abnormalities:
combined mitochondrial respiratory oxidative phosphorylation deficiency, particularly complexes i and iv

Clinical features from OMIM®:

618952 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 46

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 46

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 46

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 46:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 46 29 MRPS23

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 46

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 46:

40
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 46

Articles related to Combined Oxidative Phosphorylation Deficiency 46:

# Title Authors PMID Year
1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 6 57
26741492 2016

Variations for Combined Oxidative Phosphorylation Deficiency 46

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS23 NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg) SNV Pathogenic 973976 GRCh37: 17:55926697-55926697
GRCh38: 17:57849336-57849336

Expression for Combined Oxidative Phosphorylation Deficiency 46

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 46.

Pathways for Combined Oxidative Phosphorylation Deficiency 46

GO Terms for Combined Oxidative Phosphorylation Deficiency 46

Sources for Combined Oxidative Phosphorylation Deficiency 46

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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