COXPD16
MCID: CMB042
MIFTS: 35

Combined Oxidative Phosphorylation Deficiency 16 (COXPD16)

Categories: Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 16

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 16:

Name: Combined Oxidative Phosphorylation Deficiency 16 56 12 52 73 29 6 15 71
Coxpd16 56 12 52 58 73
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 12 52 58
Combined Oxidative Phosphorylation Defect Type 16 52 58
Combined Oxidative Phosphorylation Deficiency, Type 16 39

Characteristics:

Orphanet epidemiological data:

58
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
may be fatal in infancy
two sisters have been reported (last curated september 2013)


HPO:

31
combined oxidative phosphorylation deficiency 16:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111469
OMIM 56 615395
OMIM Phenotypic Series 56 PS609060
MeSH 43 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA352563
UMLS 71 C3809339

Summaries for Combined Oxidative Phosphorylation Deficiency 16

NIH Rare Diseases : 52 Combined oxidative phosphorylation deficiency 16 , also know as infantile hypertrophic cardiomyopathy , is characterized by decreased levels of mitochondrial complexes . The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy ) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease. It is caused by mutations in the MRPL44 gene , which results in mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern. Treatment is supportive.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 16, also known as coxpd16, is related to craniofrontonasal syndrome and erythrocytosis, familial, 1. An important gene associated with Combined Oxidative Phosphorylation Deficiency 16 is MRPL44 (Mitochondrial Ribosomal Protein L44), and among its related pathways/superpathways are Akt Signaling and Jak Stat Signaling Pathway. Affiliated tissues include liver, heart and eye, and related phenotypes are hypertrophic cardiomyopathy and elevated hepatic transaminase

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1.

UniProtKB/Swiss-Prot : 73 Combined oxidative phosphorylation deficiency 16: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle.

More information from OMIM: 615395 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 16

Diseases related to Combined Oxidative Phosphorylation Deficiency 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniofrontonasal syndrome 9.8 EPHA4 EPHA1
2 erythrocytosis, familial, 1 9.6 STAT5B JAK2
3 myelodysplastic/myeloproliferative neoplasm 9.5 STAT5B JAK2
4 chronic eosinophilic leukemia 9.5 STAT5B JAK2
5 chronic leukemia 9.5 STAT5B JAK2
6 systemic mastocytosis 9.4 STAT5B JAK2
7 mastocytosis 9.2 STAT5B JAK2
8 psoriasis 15 8.5 STAT5B EPHA4 EPHA1 CUL3 AP1S3

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 16:



Diseases related to Combined Oxidative Phosphorylation Deficiency 16

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 16

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 16:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639
2 elevated hepatic transaminase 31 HP:0002910
3 increased serum lactate 31 HP:0002151
4 microvesicular hepatic steatosis 31 HP:0001414

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy
microvesicular steatosis in cardiomyocytes
decreased levels and activity of mitochondrial respiratory complexes i and iv

Laboratory Abnormalities:
abnormal liver enzymes
increased serum lactate (mild)

Muscle Soft Tissue:
decreased levels and activity of mitochondrial respiratory complexes i and iv

Abdomen Liver:
microvesicular steatosis

Head And Neck Eyes:
granular retinal pigmentation, mild (in 1 patient)

Clinical features from OMIM:

615395

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 16

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 16

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 16

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 16:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 16 29 MRPL44

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 16

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 16:

40
Liver, Heart, Eye, Brain, Skeletal Muscle, Kidney

Publications for Combined Oxidative Phosphorylation Deficiency 16

Articles related to Combined Oxidative Phosphorylation Deficiency 16:

# Title Authors PMID Year
1
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 56 6
23315540 2013

Variations for Combined Oxidative Phosphorylation Deficiency 16

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 16:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRPL44 NM_022915.4(MRPL44):c.467T>G (p.Leu156Arg)SNV Pathogenic/Likely pathogenic 64624 rs143697995 2:224824538-224824538 2:223959821-223959821
2 MRPL44 NM_022915.4(MRPL44):c.496G>A (p.Val166Met)SNV not provided 585160 rs141821599 2:224824567-224824567 2:223959850-223959850

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 16:

73
# Symbol AA change Variation ID SNP ID
1 MRPL44 p.Leu156Arg VAR_070568 rs143697995

Expression for Combined Oxidative Phosphorylation Deficiency 16

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 16.

Pathways for Combined Oxidative Phosphorylation Deficiency 16

Pathways related to Combined Oxidative Phosphorylation Deficiency 16 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 STAT5B JAK2 EPHA4 EPHA1
2
Show member pathways
11.71 STAT5B JAK2
3
Show member pathways
11.48 STAT5B JAK2
4 11.38 STAT5B JAK2
5
Show member pathways
11.35 STAT5B JAK2
6 11.28 STAT5B JAK2
7 11.23 STAT5B JAK2
8 11.1 STAT5B JAK2
9 11.04 STAT5B JAK2
10 10.97 JAK2 EPHA4 EPHA1
11
Show member pathways
10.87 STAT5B JAK2
12
Show member pathways
10.62 STAT5B JAK2
13 10.23 STAT5B JAK2

GO Terms for Combined Oxidative Phosphorylation Deficiency 16

Biological processes related to Combined Oxidative Phosphorylation Deficiency 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of inflammatory response GO:0050729 9.46 STAT5B JAK2
2 positive regulation of cell proliferation GO:0008284 9.46 STAT5B JAK2 EPHA1 CUL3
3 regulation of GTPase activity GO:0043087 9.43 EPHA4 EPHA1
4 protein autophosphorylation GO:0046777 9.43 JAK2 EPHA4 EPHA1
5 ephrin receptor signaling pathway GO:0048013 9.4 EPHA4 EPHA1
6 positive regulation of kinase activity GO:0033674 9.37 EPHA4 EPHA1
7 JAK-STAT cascade GO:0007259 9.32 STAT5B JAK2
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.96 STAT5B JAK2
9 peptidyl-tyrosine phosphorylation GO:0018108 8.8 JAK2 EPHA4 EPHA1

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 EPHA4 EPHA1
2 transmembrane-ephrin receptor activity GO:0005005 9.16 EPHA4 EPHA1
3 ephrin receptor activity GO:0005003 8.96 EPHA4 EPHA1
4 protein tyrosine kinase activity GO:0004713 8.8 JAK2 EPHA4 EPHA1

Sources for Combined Oxidative Phosphorylation Deficiency 16

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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