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Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

MedGen UID:
1650300
•Concept ID:
C4749942
•
Disease or Syndrome
Synonyms: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation; hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation; hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
SNOMED CT: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (771509001); Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation (771509001)
Modes of inheritance:
No inheritance data available
MedGen UID:
989178
•Concept ID:
CN307043
•
Finding
Source: Orphanet
No information is available in the scientific literature on heredity of the clinical entity.
See: This record
No inheritance data available (Orphanet)
 
Monarch Initiative: MONDO:0017933
Orphanet: ORPHA324525

Definition

A mitochondrial oxidative phosphorylation disorder characterised by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalised hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

Recent clinical studies

Diagnosis

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E
Eur J Med Genet 2012 Oct;55(10):552-6. Epub 2012 Jul 7 doi: 10.1016/j.ejmg.2012.06.002. PMID: 22781753
Progressive nephropathy associated with mitochondrial tRNA gene mutation.
Dinour D, Mini S, Polak-Charcon S, Lotan D, Holtzman EJ
Clin Nephrol 2004 Aug;62(2):149-54. doi: 10.5414/cnp62149. PMID: 15356973
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.
Kurogouchi F, Oguchi T, Mawatari E, Yamaura S, Hora K, Takei M, Sekijima Y, Ikeda Si, Kiyosawa K
Am J Nephrol 1998;18(6):551-6. doi: 10.1159/000013406. PMID: 9845835

Prognosis

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E
Eur J Med Genet 2012 Oct;55(10):552-6. Epub 2012 Jul 7 doi: 10.1016/j.ejmg.2012.06.002. PMID: 22781753
Progressive nephropathy associated with mitochondrial tRNA gene mutation.
Dinour D, Mini S, Polak-Charcon S, Lotan D, Holtzman EJ
Clin Nephrol 2004 Aug;62(2):149-54. doi: 10.5414/cnp62149. PMID: 15356973
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.
Kurogouchi F, Oguchi T, Mawatari E, Yamaura S, Hora K, Takei M, Sekijima Y, Ikeda Si, Kiyosawa K
Am J Nephrol 1998;18(6):551-6. doi: 10.1159/000013406. PMID: 9845835

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