MCID: CMB042
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 16

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular 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 53 75 29 6 73
Coxpd16 57 53 59 75
Infantile Hypertrophic Cardiomyopathy Due to Mrpl44 Deficiency 53 59
Combined Oxidative Phosphorylation Defect Type 16 53 59
Combined Oxidative Phosphorylation Deficiency, Type 16 40

Characteristics:

Orphanet epidemiological data:

59
infantile hypertrophic cardiomyopathy due to mrpl44 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 16:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset variable expressivity


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 615395
Orphanet 59 ORPHA352563
ICD10 via Orphanet 34 I42.2
MeSH 44 D028361
UMLS 73 C3809339

Summaries for Combined Oxidative Phosphorylation Deficiency 16

NIH Rare Diseases : 53 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 microvesicular hepatic steatosis and hypertrophic cardiomyopathy

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
granular retinal pigmentation, mild (in 1 patient)

Abdomen Liver:
microvesicular steatosis

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

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

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


Clinical features from OMIM:

615395

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 16:

32
# Description HPO Frequency HPO Source Accession
1 microvesicular hepatic steatosis 32 HP:0001414
2 hypertrophic cardiomyopathy 32 HP:0001639
3 increased serum lactate 32 HP:0002151
4 elevated hepatic transaminases 32 HP:0002910

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:

41
Liver, Heart, Brain, Kidney, Skeletal Muscle, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 16

Variations for Combined Oxidative Phosphorylation Deficiency 16

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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