Shiga toxin-associated hemolytic uremic syndrome

Summary

Shiga toxin-associated hemolytic uremic syndrome (MONDO:0019536) is a disease. A subtype of hemolytic anemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (United States) [Orphanet-validated]
• Phenotypes (HPO): 33

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	2.1	United States	Validated

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0001873	Thrombocytopenia	Frequent (30-79%)
HP:0001919	Acute kidney injury	Frequent (30-79%)
HP:0001937	Microangiopathic hemolytic anemia	Frequent (30-79%)
HP:0002013	Vomiting	Frequent (30-79%)
HP:0002014	Diarrhea	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0003259	Elevated circulating creatinine concentration	Frequent (30-79%)
HP:0005423	Dysfunctional alternative complement pathway	Frequent (30-79%)
HP:0008282	Unconjugated hyperbilirubinemia	Frequent (30-79%)
HP:0100519	Anuria	Frequent (30-79%)
HP:0000707	Abnormality of the nervous system	Occasional (5-29%)
HP:0000737	Irritability	Occasional (5-29%)
HP:0000822	Hypertension	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001262	Excessive daytime somnolence	Occasional (5-29%)
HP:0001923	Reticulocytosis	Occasional (5-29%)
HP:0001944	Dehydration	Occasional (5-29%)
HP:0001974	Leukocytosis	Occasional (5-29%)
HP:0001981	Schistocytosis	Occasional (5-29%)
HP:0002900	Hypokalemia	Occasional (5-29%)
HP:0002902	Hyponatremia	Occasional (5-29%)
HP:0003641	Hemoglobinuria	Occasional (5-29%)
HP:0025085	Bloody diarrhea	Occasional (5-29%)
HP:0025435	Increased circulating lactate dehydrogenase concentration	Occasional (5-29%)
HP:0031368	Intestinal perforation	Occasional (5-29%)
HP:0100282	Acute colitis	Occasional (5-29%)
HP:0001259	Coma	Very rare (<1-4%)
HP:0001658	Myocardial infarction	Very rare (<1-4%)
HP:0001733	Pancreatitis	Very rare (<1-4%)
HP:0002035	Rectal prolapse	Very rare (<1-4%)
HP:0002576	Intussusception	Very rare (<1-4%)
HP:0002586	Peritonitis	Very rare (<1-4%)
HP:0012851	Colonic stenosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Shiga toxin-associated hemolytic uremic syndrome
Mondo ID	MONDO:0019536
Orphanet	90038
UMLS	C1856143
MedGen	383843
GARD	0006588
Is cancer (heuristic)	no

Also known as: D+HUS · D-plus hemolytic uremic syndrome (D+HUS) · hemolytic-uremic syndrome with diarrhea · hemolytic-uremic syndrome with diarrhoea · Shiga-like toxin-associated HUS · STEC Hemolytic Uremic Syndrome · Sxt-HUS · typical hemolytic-uremic syndrome · typical HUS

Disease family

This is a subtype of hemolytic anemia. 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 › hematologic disorder › anemia › normocytic anemia › hemolytic anemia › Shiga toxin-associated hemolytic uremic syndrome

Related subtypes (10): familial hemolytic anemia, Heinz body anemia, lethal hemolytic anemia-genital anomalies syndrome, hemolytic disease of the newborn with Kell alloimmunization, hereditary elliptocytosis, hereditary stomatocytosis, autoimmune hemolytic anemia, 6-phosphogluconate dehydrogenase deficiency, non-autoimmune hemolytic anemia, paroxysmal nocturnal hemoglobinuria

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.