Cardiomyopathy-hypotonia-lactic acidosis syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001639 Hypertrophic cardiomyopathy Very frequent (99-80%)
HP:0001942 Metabolic acidosis Very frequent (99-80%)
HP:0002151 Increased serum lactate Very frequent (99-80%)
HP:0003128 Lactic acidosis Very frequent (99-80%)
HP:0012103 Abnormality of the mitochondrion Very frequent (99-80%)
HP:0000961 Cyanosis Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0003198 Myopathy Frequent (79-30%)
HP:0009805 Low-output congestive heart failure Frequent (79-30%)
HP:0002098 Respiratory distress Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC25A3 solute carrier family 25 member 3 5250