Mitochondrial dna depletion syndrome 13 (encephalomyopathic type)

Preferred Label : Mitochondrial dna depletion syndrome 13 (encephalomyopathic type);

Symbol : MTDPS13;

CISMeF acronym : MTDPS13;

Type : Phenotype, molecular basis known;

Description : Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F-box and leucine-rich repeat protein 4 gene (FBXL4, 605654.0001);

Laboratory abnormalities : Increased serum alanine; Increased serum lactate; Fragmentation of the mitochondrial network; Abnormal liver enzymes (in some patients); Mitochondrial respiratory chain defects (skeletal muscle, fibroblasts); Depletion of mtDNA (skeletal muscle, fibroblasts); Increased serum ammonia;

Prefixed ID : #615471;

Details

Origin ID

615471;

UMLS CUI

C3809592;

Automatic exact mappings (from CISMeF team)
- FBXL4 wt Allele [NCIt concept]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies [ORDO Disease]
Currated CISMeF NLP mapping
- F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) [SNOMED CT concept]
- Mitochondrial DNA Depletion Syndrome 13 [NCIt concept]
- mitochondrial DNA depletion syndrome 13 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 13 [DO Concept]
Genes related to phenotype
- F-box and leucine-rich repeat protein 4 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Concave nasal ridge [HPO term]
- Delayed myelination [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalopathy [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperalaninemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Mitochondrial respiratory chain defects [HPO term]
- Narrow face [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Plagiocephaly [HPO term]
- Protruding ear [HPO term]
- Recurrent infections [HPO term]
- Renal tubular acidosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short foot [HPO term]
- Skeletal muscle atrophy [HPO term]
- Small for gestational age [HPO term]
- Thick eyebrow [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) [SNOMED CT concept]
- Mitochondrial DNA Depletion Syndrome 13 [NCIt concept]

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