ORPHA:3452

Whipple disease

Synonyms: Intestinal lipodystrophy

A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (<i>TW</i>).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Whipple disease	Intestinal lipodystrophy
fr	Maladie de Whipple	Lipodystrophie intestinale
de	Whipple-Krankheit	Lipodystrophie, intestinale · Morbus Whipple
es	Enfermedad de Whipple	Lipodistrofia intestinal
it	Malattia di Whipple	Granulomatosi lipofagica intestinale · Lipodistrofia intestinale · Sprue non tropicale secondaria
nl	Ziekte van Whipple	Intestinale lipodystrofie
pt	Doença de Whipple	Granulomatose lipofágica intestinal · Lipodistrofia intestinal · Spru não-tropical secundário
pl	Choroba Whipple'a	Lipodystrofia jelitowa · Wtórna nietropikalna biegunka
cs	Whippleova nemoc	Sekundární netropická sprue · Střevní lipodystrofie · Střevní lipofagická granulomatóza
uk	Хвороба Уіппла	Кишкова ліподистрофія
zh	Whipple病	肠原性脂质营养不良
tr	Whipple hastalığı	Bağırsak lipodistrofi

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	K90.8+	NTBT	inclusion	validated
ICD-10	M14.8*	NTBT	inclusion	validated
ICD-11	DA96.0Y	NTBT	index	validated
MONDO	0005116	E		validated
MeSH	D008061	E		validated
UMLS	C0023788	E		validated
GARD	7889	E		validated
MedDRA	10047931	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (4):

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CD4	Major susceptibility factor in	Assessed	HGNC:1678	ENSG00000010610	186940	12p13.31	CD4 molecule	38557723[PMID]
IRF4	Major susceptibility factor in	Assessed	HGNC:6119	ENSG00000137265	601900	6p25.3	interferon regulatory factor 4	29537367[PMID]

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	<1 / 1 000 000	—	Europe	Class only	Validated	[EXPERT]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET
Point prevalence	1-9 / 1 000 000	0.29 / 100 000	Italy	Value and class	Validated	25804189[PMID]
Point prevalence	1-9 / 1 000 000	0.98 / 100 000	United States	Value and class	Validated	30488239[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

47 annotations · validated 2016-06-01

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