U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

1.

Mitochondrial DNA depletion syndrome 16 (hepatic type)

MedGen UID:
1684495
Concept ID:
C5193142
Disease or Syndrome
2.

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms. [from GeneReviews]

MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
3.

Depletion of mitochondrial DNA in liver

An abnormal reduction in the number of mitochondria in hepatocytes. [from HPO]

MedGen UID:
870570
Concept ID:
C4025018
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity