Homepage > Rare diseases > Search

Search for a rare disease

(*) mandatory field

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Suggest an update
Your message has been sent Your message has not been sent. Please contact an administrator.
Disease 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.


Classification level: Disorder

  • mtDNA depletion syndrome, hepatocerebrorenal form

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: E88.8

ICD-11: 5C53.20

OMIM: 271245

UMLS: C5190602

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018)
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.