Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0242339 (
dyslipidemia
)
13,927
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Fatty liver disease is mainly caused by alcohol consumption, excessive body weight,
dyslipidemia
and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with
ichthyosis
, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.
...
PMID:Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. 1864 54
