Mitochondrial disease
Gene: MRPL39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
3 unrelated individuals, confirmed variants in trans
Functional studies on patient fibroblasts
Multisystem disease, variable onset
2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac
failure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading
to early death (< 1 year of age))
Adult with hypertrophic cardiomyopathy, lactic acidosis, ADHD
Sources: LiteratureCreated: 4 May 2023, 2:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease MONDO:0044970
Publications
Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Gene: mrpl39 has been classified as Green List (High Evidence).
Phenotypes for gene: MRPL39 were changed from Leigh Syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970
Gene: mrpl39 has been classified as Green List (High Evidence).
Gene: mrpl39 has been classified as Green List (High Evidence).
Gene: mrpl39 has been classified as Green List (High Evidence).
gene: MRPL39 was added gene: MRPL39 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL39 were set to PMID: 37133451 Phenotypes for gene: MRPL39 were set to Leigh Syndrome MONDO:0009723 Review for gene: MRPL39 was set to GREEN