COXPD16
MCID: CMB042
MIFTS: 34

Combined Oxidative Phosphorylation Deficiency 16 (COXPD16)

Categories: Genetic diseases, Metabolic 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 57 12 20 73 29 6 15 71
Coxpd16 57 12 20 58 73
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 12 20 58
Combined Oxidative Phosphorylation Defect Type 16 20 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®:

57 (Updated 05-Mar-2021)
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® 57 615395
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA352563
UMLS 71 C3809339

Summaries for Combined Oxidative Phosphorylation Deficiency 16

GARD : 20 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 erythrocytosis, familial, 1 and myelodysplastic/myeloproliferative neoplasm. An important gene associated with Combined Oxidative Phosphorylation Deficiency 16 is MRPL44 (Mitochondrial Ribosomal Protein L44), and among its related pathways/superpathways are Signaling by ERBB4 and AGE-RAGE signaling pathway in diabetic complications. Affiliated tissues include eye, skeletal muscle and liver, and related phenotypes are elevated hepatic transaminase and hypertrophic cardiomyopathy

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 erythrocytosis, familial, 1 9.7 STAT5B JAK2
2 myelodysplastic/myeloproliferative neoplasm 9.7 STAT5B JAK2
3 chronic eosinophilic leukemia 9.7 STAT5B JAK2
4 chronic leukemia 9.7 STAT5B JAK2
5 systemic mastocytosis 9.7 STAT5B JAK2
6 mastocytosis 9.6 STAT5B JAK2
7 psoriasis 15 9.6 EPHA4 CUL3 AP1S3
8 bone marrow cancer 9.6 STAT5B JAK2
9 hypereosinophilic syndrome 9.5 STAT5B JAK2

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 elevated hepatic transaminase 31 HP:0002910
2 hypertrophic cardiomyopathy 31 HP:0001639
3 increased serum lactate 31 HP:0002151
4 microvesicular hepatic steatosis 31 HP:0001414

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
Eye, Skeletal Muscle, Liver

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. 6 57
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 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 STAT5B JAK2
2 11.54 STAT5B JAK2
3 11.53 STAT5B JAK2
4
Show member pathways
11.51 STAT5B JAK2
5
Show member pathways
11.47 STAT5B JAK2
6
Show member pathways
11.38 STAT5B JAK2
7 11.36 STAT5B JAK2
8 11.31 STAT5B JAK2
9
Show member pathways
11.28 STAT5B JAK2
10 11.25 STAT5B JAK2
11 11.2 STAT5B JAK2
12 11.07 STAT5B JAK2
13 10.99 STAT5B JAK2
14
Show member pathways
10.77 STAT5B JAK2
15
Show member pathways
10.42 STAT5B JAK2
16 9.9 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 cell proliferation GO:0008284 9.33 STAT5B JAK2 CUL3
2 positive regulation of inflammatory response GO:0050729 9.26 STAT5B JAK2
3 JAK-STAT cascade GO:0007259 8.96 STAT5B JAK2
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.62 STAT5B JAK2

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 8.62 JAK2 EPHA4

Sources for Combined Oxidative Phosphorylation Deficiency 16

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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