COXPD9
MCID: CMB043
MIFTS: 33

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 57 12 72 29 13 6 15 70
Coxpd9 57 12 58 72
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®:

57 (Updated 20-May-2021)
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® 57 614582
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA319509
MedGen 41 C3281234
UMLS 70 C3281234

Summaries for Combined Oxidative Phosphorylation Deficiency 9

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include liver, and related phenotypes are failure to thrive and global developmental delay

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 failure to thrive 31 HP:0001508
2 global developmental delay 31 HP:0001263
3 hepatomegaly 31 HP:0002240
4 elevated hepatic transaminase 31 HP:0002910
5 hypertrophic cardiomyopathy 31 HP:0001639
6 dyspnea 31 HP:0002094
7 increased serum lactate 31 HP:0002151
8 feeding difficulties 31 HP:0011968
9 hyperalaninemia 31 HP:0003348

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
abnormal liver enzymes
increased serum alanine
increased pyruvate
more
Abdomen Gastrointestinal:
feeding difficulties

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

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis
steatosis

Respiratory:
dyspnea

Metabolic Features:
lactic acidosis

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 (Updated 20-May-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 9:


dyspnea

MGI Mouse Phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 BTK CARMIL2 CBSL CD27 CD69 LRBA
2 immune system MP:0005387 9.7 BTK CARMIL2 CBSL CD27 CD69 LRBA
3 integument MP:0010771 9.23 BTK CARMIL2 CBSL MRPL3 NBEA PLCG2

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
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. 61 57 6
27815843 2017
2
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. 57 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 Position
1 MRPL3 NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg) SNV Pathogenic 30643 rs387906962 GRCh37: 3:131181664-131181664
GRCh38: 3:131462820-131462820
2 MRPL3 NM_007208.4(MRPL3):c.143G>A (p.Trp48Ter) SNV Pathogenic 1032531 GRCh37: 3:131220509-131220509
GRCh38: 3:131501665-131501665
3 MRPL3 NM_007208.4(MRPL3):c.266del (p.Pro89fs) Deletion Pathogenic 1033195 GRCh37: 3:131220386-131220386
GRCh38: 3:131501542-131501542
4 MRPL3 NM_007208.4(MRPL3):c.49del (p.Arg17fs) Deletion Pathogenic 689411 rs1582724664 GRCh37: 3:131221617-131221617
GRCh38: 3:131502773-131502773
5 MRPL3 NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro) SNV Uncertain significance 1027733 GRCh37: 3:131186967-131186967
GRCh38: 3:131468123-131468123
6 MRPL3 NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) SNV not provided 441035 rs758835610 GRCh37: 3:131186945-131186945
GRCh38: 3:131468101-131468101

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

72
# 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

GO Terms for Combined Oxidative Phosphorylation Deficiency 9

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.36 TRPM3 TNFRSF13B POLE PLCG2 NBEA LRBA

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 8.96 TNFRSF13B BTK
2 positive regulation of B cell differentiation GO:0045579 8.62 CD27 BTK

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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