Tubular renal disease-cardiomyopathy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 73224
OMIM Id:
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 15769815 [IBIS]
Inheritance: Autosomal dominant
- PMID: 15769815 [IBIS]
Age of onset: Adult
Childhood
- PMID: 15769815 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

A novel Bartter-like phenotype was reported for a father–daughter pair. This seemingly autosomally dominantly inherited disease is characterized by hypokalaemic metabolic alkalosis secondary to renal chloride loss and severe hypomagnesaemia due to renal magnesium loss. In contrast to Gitelman’s syndrome, these patients showed marked hypercalciuria. Both patients developed dilating cardiomyopathy, which was fatal in the father and required heart transplantation in the daughter (PMID:15769815).

Symptom Information: Sort by abundance 

1
 (HPO:0001644) Dilated cardiomyopathy 15769815 IBIS 141 / 7739
2
 (HPO:0002150) Hypercalciuria 15769815 IBIS 45 / 7739
3
 (MedDRA:10071353) Hypermagnesuria 15769815 IBIS 1 / 7739
4
 (HPO:0002917) Hypomagnesemia 15769815 IBIS 19 / 7739
5
 (HPO:0000124) Renal tubular dysfunction 15769815 IBIS 46 / 7739
6
 (HPO:0001948) Alkalosis 15769815 IBIS 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: