Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

MONDO:0014162

Also known as:COXPD16MRPL44 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 16

Overview

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

GeneticsAutosomal recessive · MRPL44 (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Thickened heart muscle (hypertrophic cardiomyopathy) and Microvesicular hepatic steatosis; and common findings: Elevated circulating aspartate aminotransferase concentration, Increased circulating lactate concentration, Elevated circulating alanine aminotransferase concentration, and Cytochrome C oxidase-negative muscle fibers.

Organ System	Phenotype Count	Example Features
Lab test results	3

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MRPL44 encodes mitochondrial ribosomal protein L44 (332 aa). Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome Highest expression in Cells EBV-transformed lymphocytes (97.8 TPM) and Cells Cultured fibroblasts (53.7 TPM).

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is associated with mutations in the MRPL44 gene on chromosome 2.

MRPL44 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MRPL44 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.

5 publications have been identified in PubMed for infantile hypertrophic cardiomyopathy due to MRPL44 deficiency. Research spans Basic Science / Preclinical (60%) and Review / Meta-Analysis (40%).

Recent Publications

Haas J (2026). [PMID: 41530494](https://pubmed.ncbi.nlm.nih.gov/41530494/). *EMBO Mol Med*. [Basic Science / Preclinical]
Marques E (2025). [PMID: 41266309](https://pubmed.ncbi.nlm.nih.gov/41266309/). *Nat Commun*. [Basic Science / Preclinical]
Antolínez-Fernández Á (2024). [PMID: 38855161](https://pubmed.ncbi.nlm.nih.gov/38855161/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Hughes LA (2024). [PMID: 38779771](https://pubmed.ncbi.nlm.nih.gov/38779771/). *Hum Mol Genet*. [Review / Meta-Analysis]
Johnson CN (2024). [PMID: 39634654](https://pubmed.ncbi.nlm.nih.gov/39634654/). *Front Aging Neurosci*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615395

Orphanet

European rare disease database

Orphanet:352563

GARD

Genetic and Rare Diseases Info Center

GARD:12892

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features