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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

MedGen UID:
1674910
•Concept ID:
C5190602
•
Disease or Syndrome
Synonyms: Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form; Mitochondrial DNA depletion syndrome hepatocerebrorenal form; mitochondrial DNA depletion syndrome, hepatocerebrorenal form; mtDNA depletion syndrome, hepatocerebrorenal form
SNOMED CT: Mitochondrial DNA depletion syndrome hepatocerebrorenal form (782771007); Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (782771007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018197
Orphanet: ORPHA363534

Definition

A rare genetic mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial DNA depletion syndrome, hepatocerebrorenal form

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