ORPHA:73224
Kidney tubulopathy-dilated cardiomyopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy
- Status
- active
A rare genetic disease characterized by the combination of (i) a salt-losing renal tubulopathy with hypomagnesemia and hypokalemic metabolic alkalosis and (ii) dilated cardiomyopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kidney tubulopathy-dilated cardiomyopathy syndrome | |
| fr | Syndrome de tubulopathie rénale-cardiomyopathie dilatée | |
| de | Nierentubulopathie-dilatative Kardiomyopathie-Syndrom | Syndrom der Nierentubulopathie mit dilatativer Kardiomyopathie |
| es | Síndrome de tubulopatía renal-miocardiopatía dilatada | |
| it | Sindrome da tubulopatia renale e cardiomiopatia dilatativa | |
| nl | Tubulopathie van nier - gedilateerde cardiomyopathie-syndroom | |
| pt | Síndrome de tubulopatia renal-miocardiopatia dilatada | |
| pl | Choroba kanalików nerkowych - kardiomiopatia | Zespół tubulopatia nerkowa-kardiomiopatia rozstrzeniowa |
| cs | Syndrom zahrnující tubulární renální nemoc a kardiomyopatii | |
| uk | Синдром ниркової тубулопатії - дилатаційної кардіоміопатії | |
| zh | 肾小管病-心肌病综合征 | |
| tr | Tübüler böbrek hastalığı-kardiyomiyopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620152 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB5Y | NTBT | attributed | validated |
| MONDO | 0019130 | E | validated | |
| MONDO | 19130 | E | validated | |
| UMLS | C4304399 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RRAGD | Disease-causing germline mutation(s) in | Assessed | HGNC:19903 | ENSG00000025039 | 608268 | 6q15 | Ras related GTP binding D | 34607910[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 15769815[PMID]_41141537[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15769815[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2016-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002150 | Hypercalciuria | Diagnostic criterion |
| HP:0012608 | Hypermagnesiuria | |
| HP:0002901 | Hypocalcemia | |
| HP:0001960 | Hypokalemic metabolic alkalosis | Diagnostic criterion |
| HP:0002917 | Hypomagnesemia | |
| Frequent (79-30%) | ||
| HP:0011038 | Abnormality of renal resorption | |
| HP:0002829 | Arthralgia | |
| HP:0001635 | Congestive heart failure | |
| HP:0006559 | Hepatic calcification | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0003527 | Hyperprostaglandinuria | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0003739 | Myoclonic spasms | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0001698 | Pericardial effusion | |
| HP:0100598 | Pulmonary edema | |
| HP:0001645 | Sudden cardiac death | |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 15769815[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73224
- This record as JSON: /data/d/73224.json