COXPD16
MCID: CMB042
MIFTS: 21

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 58 54 76 30 6 74
Coxpd16 58 54 60 76
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 54 60
Combined Oxidative Phosphorylation Defect Type 16 54 60
Combined Oxidative Phosphorylation Deficiency, Type 16 41

Characteristics:

Orphanet epidemiological data:

60
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
combined oxidative phosphorylation deficiency 16:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 615395
MeSH 45 D028361
ICD10 via Orphanet 35 I42.2
Orphanet 60 ORPHA352563
UMLS 74 C3809339

Summaries for Combined Oxidative Phosphorylation Deficiency 16

NIH Rare Diseases : 54 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, is also known as coxpd16. An important gene associated with Combined Oxidative Phosphorylation Deficiency 16 is MRPL44 (Mitochondrial Ribosomal Protein L44). Affiliated tissues include liver, heart and brain, and related phenotypes are hypertrophic cardiomyopathy and elevated hepatic transaminase

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 615395

Related Diseases for Combined Oxidative Phosphorylation Deficiency 16

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 16

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 16:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639
2 elevated hepatic transaminase 33 HP:0002910
3 increased serum lactate 33 HP:0002151
4 microvesicular hepatic steatosis 33 HP:0001414

Symptoms via clinical synopsis from OMIM:

58
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 30 MRPL44

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 16

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

42
Liver, Heart, Brain, Kidney, Eye, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 16

Articles related to Combined Oxidative Phosphorylation Deficiency 16:

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

Variations for Combined Oxidative Phosphorylation Deficiency 16

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

76
# Symbol AA change Variation ID SNP ID
1 MRPL44 p.Leu156Arg VAR_070568 rs143697995

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPL44 NM_022915.3(MRPL44): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs143697995 GRCh37 Chromosome 2, 224824538: 224824538
2 MRPL44 NM_022915.3(MRPL44): c.467T> G (p.Leu156Arg) single nucleotide variant Pathogenic/Likely pathogenic rs143697995 GRCh38 Chromosome 2, 223959821: 223959821
3 MRPL44 NM_022915.3(MRPL44): c.496G> A (p.Val166Met) single nucleotide variant not provided GRCh37 Chromosome 2, 224824567: 224824567
4 MRPL44 NM_022915.3(MRPL44): c.496G> A (p.Val166Met) single nucleotide variant not provided GRCh38 Chromosome 2, 223959850: 223959850

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

GO Terms for Combined Oxidative Phosphorylation Deficiency 16

Sources for Combined Oxidative Phosphorylation Deficiency 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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