Mitochondrial phosphate carrier deficiency

Preferred Label : Mitochondrial phosphate carrier deficiency;

Symbol : MPCD;

CISMeF acronym : MPCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier), member 3 gene (SLC25A3, 600370.0001);

Laboratory abnormalities : Increased serum lactate (in most patients);

Prefixed ID : #610773;

Details

Origin ID

610773;

UMLS CUI

C1835845;

Currated CISMeF NLP mapping
- Cardiomyopathy - hypotonia - lactic acidosis [ICD-11 More detail]
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Mitochondrial phosphate carrier deficiency [ICD-11 More detail]
- Mitochondrial phosphate carrier deficiency (disorder) [SNOMED CT concept]
- mitochondrial phosphate carrier deficiency [Disease (Nov.)]
- mitochondrial phosphate carrier deficiency [MeSH concept]
- mitochondrial phosphate carrier deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier), member 3 [OMIM gene]
HPO term(s)
- Abnormal mitochondrial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cyanosis [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Metabolic acidosis [HPO term]
- Respiratory insufficiency [HPO term]
ORDO concept(s)
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Mitochondrial phosphate carrier deficiency [ICD-11 More detail]
- Mitochondrial phosphate carrier deficiency (disorder) [SNOMED CT concept]
- mitochondrial phosphate carrier deficiency [MeSH Supplementary Concept]
- mitochondrial phosphate carrier deficiency [MeSH concept]
- mitochondrial phosphate carrier deficiency [Disease (Nov.)]

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