COXPD9
MCID: CMB043
MIFTS: 35

Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 9

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 9:

Name: Combined Oxidative Phosphorylation Deficiency 9 56 12 73 29 13 6 15 71
Coxpd9 56 12 58 73
Combined Oxidative Phosphorylation Deficiency, Type 9 39
Combined Oxidative Phosphorylation Defect Type 9 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 9
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
death in infancy may occur
onset about 6 months of age after normal growth and development in the first few months of life
some patients present in the neonatal period
two unrelated families have been reported (last curated august 2019)


HPO:

31
combined oxidative phosphorylation deficiency 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111472
OMIM 56 614582
OMIM Phenotypic Series 56 PS609060
MeSH 43 D028361
ICD10 via Orphanet 33 I42.2
Orphanet 58 ORPHA319509
MedGen 41 C3281234
UMLS 71 C3281234

Summaries for Combined Oxidative Phosphorylation Deficiency 9

UniProtKB/Swiss-Prot : 73 Combined oxidative phosphorylation deficiency 9: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 9, also known as coxpd9, is related to atrial standstill 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including dyspnea An important gene associated with Combined Oxidative Phosphorylation Deficiency 9 is MRPL3 (Mitochondrial Ribosomal Protein L3), and among its related pathways/superpathways is Proton Pump Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include heart and liver, and related phenotypes are global developmental delay and hepatomegaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1.

More information from OMIM: 614582 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 9

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 9:



Diseases related to Combined Oxidative Phosphorylation Deficiency 9

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 9

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hepatomegaly 31 HP:0002240
3 failure to thrive 31 HP:0001508
4 hypertrophic cardiomyopathy 31 HP:0001639
5 dyspnea 31 HP:0002094
6 feeding difficulties 31 HP:0011968
7 elevated hepatic transaminase 31 HP:0002910
8 increased serum lactate 31 HP:0002151
9 hyperalaninemia 31 HP:0003348

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis
steatosis

Cardiovascular Heart:
hypertrophic cardiomyopathy

Abdomen Gastrointestinal:
feeding difficulties

Metabolic Features:
lactic acidosis

Head And Neck Ears:
sensorineural hearing loss, profound (patient a)

Growth Other:
failure to thrive

Respiratory:
dyspnea

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
abnormal liver enzymes
increased serum alanine
increased pyruvate
more
Neurologic Central Nervous System:
delayed psychomotor development
lactate peak in the basal ganglia (patient a)
cortical hypergyria (in some patients)

Genitourinary Kidneys:
interstitial nephritis (patient a)

Clinical features from OMIM:

614582

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 9:


dyspnea

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CD27 CD69 FDFT1 PIK3C2A POLE TNFRSF13B

MGI Mouse Phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BTK CARMIL2 CBSL CD27 CD69 LRBA
2 immune system MP:0005387 9.4 BTK CARMIL2 CBSL CD27 CD69 LRBA

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 9

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 9

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 9

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 9:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 9 29 MRPL3

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 9

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 9:

40
Heart, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 9

Articles related to Combined Oxidative Phosphorylation Deficiency 9:

# Title Authors PMID Year
1
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis. 6 56 61
27815843 2017
2
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. 56 6
21786366 2011

Variations for Combined Oxidative Phosphorylation Deficiency 9

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRPL3 NM_007208.4(MRPL3):c.49del (p.Arg17fs)deletion Pathogenic 689411 3:131221617-131221617 3:131502773-131502773
2 MRPL3 NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)SNV Pathogenic 30643 rs387906962 3:131181664-131181664 3:131462820-131462820
3 MRPL3 NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser)SNV not provided 441035 rs758835610 3:131186945-131186945 3:131468101-131468101

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:

73
# Symbol AA change Variation ID SNP ID
1 MRPL3 p.Pro317Arg VAR_066676 rs387906962

Expression for Combined Oxidative Phosphorylation Deficiency 9

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 9.

Pathways for Combined Oxidative Phosphorylation Deficiency 9

Pathways related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.45 PLCL2 PLCG2 PIK3C2A

GO Terms for Combined Oxidative Phosphorylation Deficiency 9

Biological processes related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of B cell proliferation GO:0030889 9.26 TNFRSF13B BTK
2 inositol trisphosphate biosynthetic process GO:0032959 9.16 PLCL2 PLCG2
3 positive regulation of B cell differentiation GO:0045579 8.96 CD27 BTK
4 phosphatidylinositol-mediated signaling GO:0048015 8.8 PLCL2 PLCG2 PIK3C2A

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phospholipase C activity GO:0004435 8.62 PLCL2 PLCG2

Sources for Combined Oxidative Phosphorylation Deficiency 9

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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