Details of Disease | DrugMAP

General Information of Disease (ID: DISN4IMT)

Disease Name	Cardiomyopathy-hypotonia-lactic acidosis syndrome
Synonyms	mitochondrial phosphate carrier deficiency; Mpcd; hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
Definition	Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized 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 SLC25A3 gene encoding a mitochondrial membrane transporter.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISHNY7Q: Mitochondrial substrate carrier disorder DISZI1ZK: Lactic acidosis DISQ89HN: Familial hypertrophic cardiomyopathy DISN4IMT: Cardiomyopathy-hypotonia-lactic acidosis syndrome
Disease Identifiers	MONDO ID MONDO_0012557 MESH ID C563665 UMLS CUI C1835845 OMIM ID 610773 MedGen ID 324373 Orphanet ID 91130 SNOMED CT ID 1187515001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A3	DTCRIWV	Limited	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A3	OTAWGR4K	Strong	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. doi: 10.1086/511788. Epub 2007 Jan 10.