Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Synonyms: Gitelman-like kidney tubulopathy due to mtDNA mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | Gitelman-like kidney tubulopathy due to mtDNA mutation |
| fr | Tubulopathie rénale Gitelman-like due à une mutation de l'ADN mitochondrial | Tubulopathie rénale Gitelman-like due à une mutation de l'ADNmt |
| de | Gitelman-ähnliche Nierentubulopathie durch mitochondriale DNA-Mutation | |
| es | Tubulopatía renal tipo Gitelman por mutación del ADN mitocondrial | Tubulopatía renal de Gitelman-like por mutación del ADN mitocondrial · Tubulopatía renal tipo Gitelman por mutación del mtDNA |
| it | Tubulopatia renale simil-Gitelman da mutazione del DNA mitocondriale | Tubulopatia renale simil-Gitelman da mutazione di mtDNA |
| nl | Gitelman-achtige tubulopathie van nier door mutatie van mitochondriaal DNA | Gitelman-achtige tubulopathie van nier door mtDNA-mutatie |
| pt | Tubulopatia renal Gitelman-like por mutação no ADN mitocondrial | Tubulopatia renal Gitelman-like por mutação no ADNmt |
| pl | Tubulopatia nerkowa podobna do zespołu Gitelmana związana z mutacją w mitochondrialnym DNA | = en |
| cs | Gitelman-like tubulopatie ledvin způsobená mutací mitochondriální DNA | = en |
| uk | Гітельманоподібна тубулопатія нирок внаслідок мутації мітохондріальної ДНК | Гітельманоподібна тубулопатія нирок внаслідок мутації мтДНК |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | N15.8 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | attributed | validated |
| MONDO | 0850089 | E | validated | |
| UMLS | C5680390 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TF | Disease-causing germline mutation(s) in | Assessed | HGNC:7481 | ENSG00000210049 | 590070 | mitochondria | mitochondrially encoded tRNA-Phe (UUU/C) | 34607911[PMID] |
| MT-TI | Disease-causing germline mutation(s) in | Assessed | HGNC:7488 | ENSG00000210100 | 590045 | mitochondria | mitochondrially encoded tRNA-Ile (AUU/C) | 34607911[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 families | Worldwide | Family(ies) | Validated | 15498972[PMID]_34607911[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 15498972[PMID]_34607911[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620371
- This record as JSON: /data/d/620371.json