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Autosomal dominant polycystic liver disease

Autosomal Dominant Polycystic Liver Disease Deep Research Fallback

⚠️ Fallback MONDO:0000447

Autosomal Dominant Polycystic Liver Disease Deep Research Fallback

Provider Attempts

  • falcon: timeout --foreground 120s just research-disorder falcon Autosomal_Dominant_Polycystic_Liver_Disease produced no usable content and was terminated with signal 15.
  • openai: timeout --foreground 120s just research-disorder openai Autosomal_Dominant_Polycystic_Liver_Disease produced no usable content and was terminated with signal 15.

Because the preferred deep-research providers did not return usable content in bounded attempts, this fallback records the literature scope used for curation. All YAML evidence was taken from generated Orphanet and PubMed reference caches, not from hand-created reference text.

Literature Scope

Autosomal dominant polycystic liver disease corresponds to MONDO:0000447 and Orphanet ORPHA:2924. The Orphanet record for isolated polycystic liver disease defines the condition as genetic PCLD with numerous cysts throughout the liver, usually described as ADPCLD. It records adult onset, autosomal dominant inheritance, a European point-prevalence band of 1-9 per 100,000, HPO phenotype-frequency rows, and disease-causing gene assertions for ALG8, LRP5, PRKCSH, and SEC63.

Human clinical reviews and cohorts were used to anchor the phenotype, diagnosis, and management sections. PLD reviews define PCLD as distinct from ADPKD-associated PLD but clinically similar in producing hepatomegaly from multiple cysts with preserved liver function. They support ultrasonography as the first imaging instrument, CT or MRI liver-volume assessment for severity and risk stratification, molecular diagnostics when imaging or screening is ambiguous, and management that ranges from conservative care to somatostatin analogs, cyst-directed procedures, and liver transplantation.

The mechanistic pathophysiology is centered on the best-supported PRKCSH and SEC63 branch. The principal mechanism review links PRKCSH and SEC63 to endoplasmic-reticulum protein biogenesis and quality control, inefficient polycystin maturation, and PC1 dosage as a rate-limiting component of cystic disease in model systems. Human clinical and surgical sources then support the downstream cholangiocyte-derived epithelial cysts, hepatic enlargement, and mass-effect symptom burden.

Curation Decisions

  • Used MONDO:0000447 as the disease term because it carries the Orphanet:2924 cross-reference and matches the ADPLD/PCLD scope.
  • Included all ORPHA very frequent and frequent HPO phenotypes: polycystic liver disease, hepatomegaly, abdominal distention, multiple renal cysts, and early satiety.
  • Added selected ORPHA occasional phenotypes with coherent clinical relevance to mass-effect, hepatobiliary, vascular, cardiac, or pancreatic involvement. Feeding difficulties in infancy and the broad respiratory-system parent row were not included because this entry is adult-onset and already includes the more specific dyspnea and respiratory insufficiency rows.
  • Modeled subtypes for PRKCSH/PCLD1 and SEC63/PCLD2 with MONDO term bindings, and included ALG8-related and LRP5-related ADPLD as Orphanet-supported gene-defined subtypes without forcing unavailable local MONDO subtype terms.
  • Represented somatostatin analog therapy with generic pharmacotherapy plus an NCIT somatostatin receptor agonist therapeutic-agent binding, and kept cyst-directed surgery and liver transplantation as separate treatment entries.