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| Rhabdomyolysis and metabolic muscle disorders v5.10 | XPNPEP3 |
Arina Puzriakova gene: XPNPEP3 was added gene: XPNPEP3 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 40953058 Phenotypes for gene: XPNPEP3 were set to myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 Review for gene: XPNPEP3 was set to RED Added comment: Biallelic variants in this gene are associated with nephronophthisis, a progressive cystic kidney disorder that leads to end-stage renal disease (OMIM:613159). Extra-renal manifestations have only been reported in a subset of cases - neurological features have been reported in at least 4 unrelated families including tremor, dystonia, rhabdomyolysis, peripheral neuropathy, sensorineural hearing loss, epilepsy and cardiomyopathy. Kidney disease was present in all (PMID: 20179356; 38035175), except one case (PMID: 40953058). A recent report (PMID: 40953058) included the first case of mitochondrial myopathy presenting with a purely metabolic phenotype, manifesting as exertional symptoms and rhabdomyolysis associated with a homozygous XPNPEP3 variant (c.1153dup, p.(Tyr385LeufsTer13)) - however, this individual did not have any typical renal features and therefore it's worth monitoring for similar reports. In the meantime rating as Red awaiting further corroborating cases. Sources: Literature |
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