Combined Oxidative Phosphorylation Deficiency 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Coxpd9 ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Other hypertrophic cardiomyopathy

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 I42.2

Orphanet ⁵⁸ ORPHA319509

MedGen ⁴¹ C3281234

SNOMED-CT via HPO ⁶⁸ 166603001 166643006 224958001 more

UMLS ⁷¹ C3281234

Sources

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). Affiliated tissues include heart and 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

Sources

Related Diseases for Combined Oxidative Phosphorylation Deficiency 9

Diseases related to Combined Oxidative Phosphorylation Deficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	atrial standstill 1	9.9
2	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.9
3	combined oxidative phosphorylation deficiency	9.9
4	sensorineural hearing loss	9.9
5	interstitial nephritis	9.9
6	hypertrophic cardiomyopathy	9.9
7	lactic acidosis	9.9
8	liver cirrhosis	9.9
9	immunoglobulin a deficiency 1	9.8	TNFRSF13B BTK
10	immunodeficiency 16	9.8	CD27 CARMIL2
11	transient hypogammaglobulinemia of infancy	9.8	TNFRSF13B CD27
12	transient hypogammaglobulinemia	9.7	TNFRSF13B CD27
13	agammaglobulinemia, x-linked	9.7	TNFRSF13B PLCG2 BTK
14	immunoglobulin alpha deficiency	9.6	TNFRSF13B CD27
15	cd40 ligand deficiency	9.5	TNFRSF13B CD27 BTK
16	immunodeficiency with hyper-igm, type 1	9.5	TNFRSF13B CD27 BTK
17	macroglobulinemia	9.4	TNFRSF13B CD27 BTK
18	trichohepatoenteric syndrome 1	9.4	TNFRSF13B PLCG2 LRBA CD27
19	autoimmune lymphoproliferative syndrome	9.4	LRBA CD69 CD27
20	immunodeficiency 14	9.4	LRBA CD27 CARMIL2 BTK
21	b cell deficiency	9.1	TNFRSF13B PLCG2 LRBA CD27 BTK
22	common variable immunodeficiency	9.0	TNFRSF13B LRBA CD69 CD27 BTK
23	immune deficiency disease	8.9	TNFRSF13B CD69 CD27 BTK

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

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 9

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

³¹ (show all 9)

#	Description	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 05-Mar-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 05-Mar-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

Sources

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 9

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

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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

Sources

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 9

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

⁴⁰

Heart, Liver

Sources

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. ⁵⁷ ⁶ ⁶¹	Bursle C...Coman D	27815843	2017
2	Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. ⁵⁷ ⁶	Galmiche L...Rotig A	21786366	2011

Sources

Genes for Combined Oxidative Phosphorylation Deficiency 9

Genes related to Combined Oxidative Phosphorylation Deficiency 9 (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MRPL3	Mitochondrial Ribosomal Protein L3	Protein Coding	1675.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21786366 27815843
2	ECT2L	Epithelial Cell Transforming 2 Like	Protein Coding	7.66	DISEASES inferred ¹⁵
3	CARMIL2	Capping Protein Regulator And Myosin 1 Linker 2	Protein Coding	7.05	DISEASES inferred ¹⁵
4	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	6.17	DISEASES inferred ¹⁵
5	PLCL2	Phospholipase C Like 2	Protein Coding	5.88	DISEASES inferred ¹⁵
6	KCNN3	Potassium Calcium-Activated Channel Subfamily N Member 3	Protein Coding	5.79	DISEASES inferred ¹⁵
7	GPRIN2	G Protein Regulated Inducer Of Neurite Outgrowth 2	Protein Coding	5.76	DISEASES inferred ¹⁵
8	PLCG2	Phospholipase C Gamma 2	Protein Coding	5.57	DISEASES inferred ¹⁵
9	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	5.52	DISEASES inferred ¹⁵
10	SEC22B	SEC22 Homolog B, Vesicle Trafficking Protein	Protein Coding	5.41	DISEASES inferred ¹⁵
11	NBEA	Neurobeachin	Protein Coding	5.33	DISEASES inferred ¹⁵
12	FDFT1	Farnesyl-Diphosphate Farnesyltransferase 1	Protein Coding	4.74	DISEASES inferred ¹⁵
13	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	4.46	DISEASES inferred ¹⁵
14	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	4.21	DISEASES inferred ¹⁵
15	CBSL	Cystathionine Beta-Synthase Like	Protein Coding	3.85	DISEASES inferred ¹⁵
16	BTK	Bruton Tyrosine Kinase	Protein Coding	3.62	DISEASES inferred ¹⁵
17	CD27	CD27 Molecule	Protein Coding	3.55	DISEASES inferred ¹⁵
18	CD69	CD69 Molecule	Protein Coding	3.51	DISEASES inferred ¹⁵

Sources

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.950C>G (p.Pro317Arg)	SNV	Pathogenic	30643	rs387906962	3:131181664-131181664	3:131462820-131462820
2	MRPL3	NM_007208.4(MRPL3):c.49del (p.Arg17fs)	Deletion	Pathogenic	689411	rs1582724664	3:131221617-131221617	3:131502773-131502773
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

Sources

Expression for Combined Oxidative Phosphorylation Deficiency 9

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

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Pathways for Combined Oxidative Phosphorylation Deficiency 9

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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

Sources for Combined Oxidative Phosphorylation Deficiency 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 9

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 9:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Combined Oxidative Phosphorylation Deficiency 9

Related Diseases for Combined Oxidative Phosphorylation Deficiency 9

Diseases related to Combined Oxidative Phosphorylation Deficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 9:

MGI Mouse Phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 9

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 9

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 9:

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 9

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

Publications for Combined Oxidative Phosphorylation Deficiency 9

Articles related to Combined Oxidative Phosphorylation Deficiency 9:

Genes for Combined Oxidative Phosphorylation Deficiency 9

Genes related to Combined Oxidative Phosphorylation Deficiency 9 (1 elite genes):

Variations for Combined Oxidative Phosphorylation Deficiency 9

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:

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

Expression 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:

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

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

Sources for Combined Oxidative Phosphorylation Deficiency 9