Mirizzi syndrome

Summary

Mirizzi syndrome (MONDO:0043330) is a disease and 1 clinical trial. A subtype of extrahepatic 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): 20
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0000952	Jaundice	Frequent (30-79%)
HP:0001081	Cholelithiasis	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0002904	Hyperbilirubinemia	Frequent (30-79%)
HP:0003155	Elevated circulating alkaline phosphatase concentration	Frequent (30-79%)
HP:0011980	Cholesterol gallstones	Frequent (30-79%)
HP:0040319	Dark urine	Frequent (30-79%)
HP:0001649	Tachycardia	Occasional (5-29%)
HP:0001733	Pancreatitis	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)
HP:0002039	Anorexia	Occasional (5-29%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Occasional (5-29%)
HP:0003270	Abdominal distention	Occasional (5-29%)
HP:0011848	Abdominal colic	Occasional (5-29%)
HP:0025143	Chills	Occasional (5-29%)
HP:0410019	Epigastric pain	Occasional (5-29%)
HP:0030154	Gallbladder perforation	Very rare (<1-4%)
HP:0100889	Abnormality of the ductus choledochus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Mirizzi syndrome
Mondo ID	MONDO:0043330
MeSH	D057792
Orphanet	521219
ICD-11	381742412
SNOMED CT	4283007
UMLS	C0267878
MedGen	120605
GARD	0010177
Is cancer (heuristic)	no

Also known as: Mirizzi syndrome · Mirizzi’s syndrome · mirizzi’s syndrome · Mirizzis syndrome · syndrome, Mirizzi · syndrome, Mirizzi’s

Disease family

This is a subtype of extrahepatic 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 › extrahepatic cholestasis › Mirizzi syndrome

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04672902	Not specified	COMPLETED	Treatment of Mirizzi Syndrome