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Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency(COXPD16)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Combined oxidative phosphorylation deficiency 16
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): MRPL44 (2q36.1)
Monarch Initiative: MONDO:0014162
OMIM®: 615395
Orphanet: ORPHA352563


Combined oxidative phosphorylation deficiency-16 (COXPD16) is an autosomal recessive multisystem disorder with hypertrophic cardiomyopathy as a major feature. [from OMIM]

Clinical features

From HPO
Hypertrophic cardiomyopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Microvesicular hepatic steatosis
MedGen UID:
Concept ID:
A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
Cytochrome C oxidase-negative muscle fibers
MedGen UID:
Concept ID:
An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
Concept ID:
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration
MedGen UID:
Concept ID:
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Increased circulating lactate concentration
MedGen UID:
Concept ID:
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency in Orphanet.

Recent clinical studies


Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A
J Med Genet 2013 Mar;50(3):151-9. Epub 2013 Jan 12 doi: 10.1136/jmedgenet-2012-101375. PMID: 23315540

Supplemental Content

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