Whipple disease

Summary

Whipple disease (MONDO:0005116) is a disease and 2 clinical trials. A subtype of intestinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Italy) [Orphanet-validated]
• Phenotypes (HPO): 47
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000		Europe	Validated
Point prevalence	1-9 / 1 000 000	0.29	Italy	Validated
Point prevalence	1-9 / 1 000 000	0.98	United States	Validated

Signs & symptoms

Clinical features (HPO)

47 HPO clinical features (Orphanet curated; top 47 by frequency):

HPO ID	Term	Frequency
HP:0000716	Depression	Very frequent (80-99%)
HP:0001336	Myoclonus	Very frequent (80-99%)
HP:0001369	Arthritis	Very frequent (80-99%)
HP:0001945	Fever	Very frequent (80-99%)
HP:0002014	Diarrhea	Very frequent (80-99%)
HP:0002024	Malabsorption	Very frequent (80-99%)
HP:0002027	Abdominal pain	Very frequent (80-99%)
HP:0002039	Anorexia	Very frequent (80-99%)
HP:0002376	Developmental regression	Very frequent (80-99%)
HP:0002829	Arthralgia	Very frequent (80-99%)
HP:0004326	Cachexia	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0100721	Mediastinal lymphadenopathy	Very frequent (80-99%)
HP:0000554	Uveitis	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0002102	Pleuritis	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002360	Sleep abnormality	Frequent (30-79%)
HP:0002615	Hypotension	Frequent (30-79%)
HP:0003326	Myalgia	Frequent (30-79%)
HP:0000238	Hydrocephalus	Occasional (5-29%)
HP:0000520	Proptosis	Occasional (5-29%)
HP:0000821	Hypothyroidism	Occasional (5-29%)
HP:0000855	Insulin resistance	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001251	Ataxia	Occasional (5-29%)
HP:0001324	Muscle weakness	Occasional (5-29%)
HP:0001658	Myocardial infarction	Occasional (5-29%)
HP:0001701	Pericarditis	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0001959	Polydipsia	Occasional (5-29%)
HP:0002093	Respiratory insufficiency	Occasional (5-29%)
HP:0002239	Gastrointestinal hemorrhage	Occasional (5-29%)
HP:0002383	Infectious encephalitis	Occasional (5-29%)
HP:0002516	Increased intracranial pressure	Occasional (5-29%)
HP:0002902	Hyponatremia	Occasional (5-29%)
HP:0006824	Cranial nerve paralysis	Occasional (5-29%)
HP:0007256	Abnormal pyramidal sign	Occasional (5-29%)
HP:0007440	Generalized hyperpigmentation	Occasional (5-29%)
HP:0009830	Peripheral neuropathy	Occasional (5-29%)
HP:0010741	Pedal edema	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0012819	Myocarditis	Occasional (5-29%)
HP:0100614	Myositis	Occasional (5-29%)
HP:0100639	Erectile dysfunction	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0100829	Galactorrhea	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Whipple disease
Mondo ID	MONDO:0005116
EFO	EFO:0000775
MeSH	D008061
Orphanet	3452
DOID	DOID:8476
ICD-10-CM	K90.81
ICD-11	1131038233
NCIT	C85228
SNOMED CT	41545003
UMLS	C0023788
MedGen	7347
GARD	0007889
MedDRA	10047931
NORD	1850
Anatomy (UBERON)	UBERON:0001007
Is cancer (heuristic)	no

Also known as: intestinal lipodystrophy · intestinal lipophagic granulomatosis · secondary non-tropical sprue · Tropheryma whippelii infection · Tropheryma whipplei caused disease or disorder · Tropheryma whipplei disease or disorder · Tropheryma whipplei infectious disease · Whipple disease · Whipple’s disease

Disease family

This is a subtype of intestinal disorder. 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 › intestinal disorder › Whipple disease

Related subtypes (57): intestinal atresia, steatorrhea, angiodysplasia of intestine, endometriosis of intestine, hypertrophic pyloric stenosis, mucocele of appendix, gastroenteritis, diverticulitis, intestinal obstruction, postgastrectomy syndrome, chronic intestinal vascular insufficiency, bowel dysfunction, irritable bowel syndrome, inflammatory bowel disease, intestinal polyp, necrotizing enterocolitis, intestinal perforation, neurogenic bowel, pneumatosis cystoides intestinalis, volvulus of midgut, abetalipoproteinemia, aplasia cutis congenita-intestinal lymphangiectasia syndrome, trichohepatoenteric syndrome, protein-losing enteropathy, chronic diarrhea with villous atrophy, Satoyoshi syndrome, glucose-galactose malabsorption, congenital diarrhea 7 with exudative enteropathy, chronic atrial and intestinal dysrhythmia, congenital enterocyte heparan sulfate deficiency, short bowel syndrome, intractable diarrhea-choanal atresia-eye anomalies syndrome, solitary rectal ulcer syndrome, NK-cell enteropathy, chronic intestinal failure, intestinal lymphangiectasia, refractory celiac disease, eosinophilic gastrointestinal disease, cryptogenic multifocal ulcerous stenosing enteritis, chronic enteropathy associated with SLCO2A1 gene, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, malakoplakia, malabsorption syndrome, ischemic bowel disorder, intestinal neoplasm, intestinal motility disease, 4-hydroxyphenylacetic aciduria, parasitic intestinal disorder, Aeromonas hydrophila intestinal disease, large intestine disorder, small intestine disorder, primary desmosis coli, isolated mesenteric vein thrombosis, collagenous sprue, visceral leiomyopathy, African degenerative, intestinal dysmotility syndrome, intestinal fistula

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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03350685	Not specified	COMPLETED	Detection and Characteristic of Whipple Diseases in the Great Britany
NCT06776484	Not specified	COMPLETED	Biological Evolution of Whipple’s Disease (WHIP)