Tubular renal disease-cardiomyopathy syndrome

MedGen UID:: 930068
•Concept ID:: C4304399
•: Disease or Syndrome

Synonyms:	Kidney tubulopathy-dilated cardiomyopathy syndrome; Tubular renal disease with cardiomyopathy syndrome; tubular renal disease-cardiomyopathy syndrome
SNOMED CT:	Tubular renal disease with cardiomyopathy syndrome (719839000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019130
Orphanet:	ORPHA73224

Definition

This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTubular renal disease-cardiomyopathy syndrome

Inherited renal tubular disease
- Tubular renal disease-cardiomyopathy syndrome

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Tubular renal disease-cardiomyopathy syndrome

Definition

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