Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanGitelman-like kidney tubulopathy due to mitochondrial DNA mutation
ORPHA:620371Disease
Also called Gitelman-like kidney tubulopathy due to mtDNA mutation
What it is
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfuntion may not be evident in the patients.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- All ages
- Inheritance
- Mitochondrial inheritance
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.