Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

Preferred Label : Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria);

Symbol : MTDPS9;

CISMeF acronym : MTDPS9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidosis, fatal infantile;

Description : Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha subunit of succinate-coenzyme A ligase (SUCLG1, 611224.0001);

Laboratory abnormalities : Methylmalonic aciduria; Increased lactate in spinal fluid;

Prefixed ID : #245400;

Détails

Origin ID

245400;

UMLS CUI

C3151476;

Automatic exact mappings (from CISMeF team)
- lactic acidosis, fatal infantile [MeSH concept]
- lactic acidosis, fatal infantile [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mitochondrial DNA Depletion Syndrome-9 [NCIt concept]
- mitochondrial DNA depletion syndrome 9 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 9 [DO Concept]
Genes related to phenotype
- Succinate-coa ligase, gdp/adp-forming, subunit alpha [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Depletion of mitochondrial DNA in muscle tissue [HPO term]
- Elevated brain lactate level by MRS [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated lactate:pyruvate ratio [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Focal T2 hyperintense basal ganglia lesion [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hyperglycinemia [HPO term]
- Hyperhidrosis [HPO term]
- Hypertaurinemia [HPO term]
- Hypoglycemia [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Infantile muscular hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Lacticaciduria [HPO term]
- Methylmalonic aciduria [HPO term]
- Motor delay [HPO term]
- Neonatal death [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Persistent head lag [HPO term]
- Poor head control [HPO term]
- Renal aminoaciduria [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Fatal infantile lactic acidosis with methylmalonic aciduria [ORDO Disease]
Related ORDO disease(s)
- Fatal infantile lactic acidosis with methylmalonic aciduria [ORDO Disease]
See also inter- (CISMeF)
- Fatal infantile lactic acidosis with methylmalonic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA Depletion Syndrome-9 [NCIt concept]
- mitochondrial DNA depletion syndrome 9 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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