Cardiomyopathy-hypotonia-lactic acidosis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MPCD
Number of Symptoms 7
OrphanetNr: 91130
OMIM Id: 610773
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 17273968 [IBIS]
Inheritance: Autosomal recessive
Monogenic
- PMID: 17273968 [IBIS]
Age of onset: Infancy
- PMID: 17273968 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial substrate carrier disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndrome associated with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). A homozygous mutation--c.215G-->A (p.Gly72Glu)--in the alternatively spliced exon 3A of this enzyme was reported for two siblings with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia who died within the 1st year of life (PMID:17273968).

Symptom Information: Sort by abundance 

1
 (HPO:0000961) Cyanosis 17273968 IBIS 60 / 7739
2
 (HPO:0001639) Hypertrophic cardiomyopathy 17273968 IBIS 137 / 7739
3
 (HPO:0012087) Abnormal mitochondrial shape 17273968 IBIS 8 / 7739
4
 (HPO:0003128) Lactic acidosis 17273968 IBIS 116 / 7739
5
 (HPO:0001942) Metabolic acidosis 17273968 IBIS 81 / 7739
6
 (HPO:0002093) Respiratory insufficiency 17273968 IBIS 410 / 7739
7
 (HPO:0001252) Muscular hypotonia 17273968 IBIS 990 / 7739

Associated genes:

SLC25A3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SLC25A3 rs104894375 pathogenic RCV000009720.4

Additional Information:

Clinical Description OMIM Mayr et al. (2007) described 2 sisters, offspring of nonconsanguineous Turkish parents, with mitochondrial phosphate carrier deficiency. The younger sister presented at age 12 hours with cyanosis and muscular hypotonia that necessitated intensive care treatment. Echocardiography revealed hypertrophic ...
Molecular genetics OMIM In 2 sibs with mitochondrial phosphate carrier deficiency, Mayr et al. (2007) identified homozygosity for a mutation in the alternatively spliced exon 3A of the SLC25A3 gene (600370.0001), which produces the heart/muscle-specific isoform of mitochondrial phosphate carrier protein. ...