Parenteral nutrition-associated cholestasis
diseaseOn this page
Also known as PNAC
Summary
Parenteral nutrition-associated cholestasis (MONDO:0035777) is a disease and 3 clinical trials. Top therapeutic interventions include fish oil triglycerides. A subtype of cholestasis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 22
- Clinical trials: 3
Clinical features
Signs & symptoms
Clinical features (HPO)
22 HPO clinical features (Orphanet curated; top 22 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000952 | Jaundice | Frequent (30-79%) |
| HP:0001399 | Hepatic failure | Frequent (30-79%) |
| HP:0001518 | Small for gestational age | Frequent (30-79%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0001744 | Splenomegaly | Frequent (30-79%) |
| HP:0002027 | Abdominal pain | Frequent (30-79%) |
| HP:0002240 | Hepatomegaly | Frequent (30-79%) |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Frequent (30-79%) |
| HP:0003077 | Hyperlipidemia | Frequent (30-79%) |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Frequent (30-79%) |
| HP:0004359 | Abnormal circulating fatty-acid concentration | Frequent (30-79%) |
| HP:0006560 | Biliary hyperplasia | Frequent (30-79%) |
| HP:0011113 | Abnormality of cytokine secretion | Frequent (30-79%) |
| HP:0011473 | Villous atrophy | Frequent (30-79%) |
| HP:0030948 | Elevated gamma-glutamyltransferase level | Frequent (30-79%) |
| HP:0032245 | Abnormal metabolism | Frequent (30-79%) |
| HP:0001081 | Cholelithiasis | Occasional (5-29%) |
| HP:0001394 | Cirrhosis | Occasional (5-29%) |
| HP:0001395 | Hepatic fibrosis | Occasional (5-29%) |
| HP:0001397 | Hepatic steatosis | Occasional (5-29%) |
| HP:0001409 | Portal hypertension | Occasional (5-29%) |
| HP:0002908 | Conjugated hyperbilirubinemia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | parenteral nutrition-associated cholestasis |
| Mondo ID | MONDO:0035777 |
| Orphanet | 567983 |
| ICD-11 | 1572634308 |
| UMLS | C3274301 |
| MedGen | 475934 |
| GARD | 0022295 |
| Is cancer (heuristic) | no |
Also known as: PNAC
Disease family
This is a subtype of cholestasis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › cholestasis › parenteral nutrition-associated cholestasis
Related subtypes (4): extrahepatic cholestasis, obstructive jaundice, biliary atresia, intrahepatic cholestasis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE4 | 1 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06049680 | PHASE4 | RECRUITING | Safety Study of SMOFlipid to Evaluate the Risk of Developing EFAD and/or PNAC in Pediatric and Adult Patients |
| NCT01555957 | PHASE3 | COMPLETED | Prospective Randomized Clinical Trial of Intravenous Lipids and Cholestasis |
| NCT01601652 | PHASE1/PHASE2 | COMPLETED | Compassionate Use of an Intravenous Fish Oil Emulsion in Infants With Cholestasis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FISH OIL TRIGLYCERIDES | 4 | 1 |
Related Atlas pages
- Drugs: Fish Oil Triglycerides