MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
Parent Node: primary renal tubular acidosis (MONDO:0017828)
..Starting node ..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
Child Nodes:
Sister Nodes:
..autosomal recessive osteopetrosis 3 ()
..central nervous system calcification-deafness-tubular acidosis-anemia syndrome ()
..distal renal tubular acidosis (disease) ()
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..proximal renal tubular acidosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17933
Name:	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Definition:	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized 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.
Alternative IDs:
ParentIDs:
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Synonyms:	hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal