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{{Short description|Genetic disorder}} |
{{Short description|Genetic disorder}} |
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”’Combined oxidative phosphorylation deficiency-17”’ (COXPD17) is a very rare autosomal recessive [[mitochondrial disease]] characterized primarily by onset of severe [[hypertrophic cardiomyopathy]] in the first year of life.<ref name=”:4″>{{Cite web |title=Entry – #615440 – COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 – OMIM – (OMIM.ORG) |url=https://omim.org/entry/615440 |access-date=2025-12-03 |website=omim.org |language=en-us}}</ref><ref name=”:0″>{{Cite web |title=Combined oxidative phosphorylation defect type 17 (Concept Id: C3809526) – MedGen – NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/815856 |access-date=2025-12-03 |website=www.ncbi.nlm.nih.gov |language=en}}</ref><ref name=”:1″ /> |
”’Combined oxidative phosphorylation deficiency-17”’ (COXPD17) is a very rare autosomal recessive [[mitochondrial disease]] characterized primarily by onset of severe [[hypertrophic cardiomyopathy]] in the first year of life.<ref name=”:4″>{{Cite web |title=Entry – #615440 – COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 – OMIM – (OMIM.ORG) |url=https://omim.org/entry/615440 |access-date=2025-12-03 |website=omim.org |language=en-us}}</ref><ref name=”:0″>{{Cite web |title=Combined oxidative phosphorylation defect type 17 (Concept Id: C3809526) – MedGen – NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/815856 |access-date=2025-12-03 |website=www.ncbi.nlm.nih.gov |language=en}}</ref><ref name=”:1″ /> |
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== References == |
== References == |
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Latest revision as of 15:21, 3 December 2025
Genetic disorder
Combined oxidative phosphorylation deficiency-17 (COXPD17) is a very rare autosomal recessive mitochondrial disease characterized primarily by onset of severe hypertrophic cardiomyopathy in the first year of life.[1][2][3]
Causes and inheritance
[edit]
COXPD17 is caused by homozygous or compound heterozygous mutations in the ELAC2 gene that functions as a mitochondrial tRNA processing gene.[1][3]
It follows an autosomal recessive inheritance pattern,[1][2][3] which means:[4][5]
Individuals with one mutated copy (heterozygous carriers) are typically asymptomatic and do not show clinical features of the disease.[4][5]
When both parents are carriers, their children have:[4][5]
- 25% (1 in 4) chance of being affected.
- 50% (2 in 4) chance of being asymptomatic carriers.
- 25% (1 in 4) chance of not inheriting the mutation.
Symptoms of COXPD17 include:[1]
The disorder presents during early infancy, with hypertrophic cardiomyopathy appearing within the first months of life. It may be fatal in early childhood.[1]
