Inflammatory pseudotumor of the liver

Summary

Inflammatory pseudotumor of the liver (MONDO:0019528) is a disease. A subtype of liver and intrahepatic bile duct neoplasm — 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): 17

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		140	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

17 HPO clinical features (Orphanet curated; top 17 by frequency):

HPO ID	Term	Frequency
HP:0002896	Neoplasm of the liver	Obligate (100%)
HP:0031140	Abnormal liver sonography	Obligate (100%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0030057	Autoimmune antibody positivity	Frequent (30-79%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0001080	Biliary tract abnormality	Occasional (5-29%)
HP:0001394	Cirrhosis	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)
HP:0003270	Abdominal distention	Occasional (5-29%)
HP:0025406	Asthenia	Occasional (5-29%)
HP:0410369	Increased hepatitis B virus antibody level	Occasional (5-29%)
HP:0006254	Elevated alpha-fetoprotein	Excluded (0%)
HP:0031956	Elevated circulating aspartate aminotransferase concentration	Very rare (<1-4%)
HP:0031964	Elevated circulating alanine aminotransferase concentration	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory pseudotumor of the liver
Mondo ID	MONDO:0019528
Orphanet	90003
GARD	0019098
Is cancer (heuristic)	no

Also known as: IgG4-related hepatopathy

Disease family

This is a subtype of liver and intrahepatic bile duct neoplasm. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › endocrine gland neoplasm › liver and intrahepatic bile duct neoplasm › inflammatory pseudotumor of the liver

Related subtypes (16): liver lipoma, liver hemangioma, hepatic angiomyolipoma, liver cancer, liver solitary fibrous tumor, liver leiomyoma, liver inflammatory myofibroblastic tumor, biliary tract neoplasm, hepatic granuloma, solitary necrotic nodule of the liver, undifferentiated embryonal sarcoma of the liver, liver mesenchymal hamartoma, hepatocellular adenoma, fibrohistiocytic inflammatory pseudotumor of the liver, lymphoplasmacytic inflammatory pseudotumor of the liver, liver adenomatosis

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: 0.