MCID: WHP001
MIFTS: 37

Whipple Disease malady

Rare diseases, Neuronal diseases, Gastrointestinal diseases, Infectious diseases, Muscle diseases categories

Aliases & Classifications for Whipple Disease

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 42NINDS, 43Novoseek, 27ICD9CM, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Whipple Disease, Aliases & Descriptions:

Name: Whipple Disease 9 41 47 60
Intestinal Lipodystrophy 9 41 42 47
Intestinal Lipophagic Granulomatosis 41 47 60
Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency 41 47
Congenital Muscular Dystrophy with Itga7 Deficiency 41 47
 
Secondary Non-Tropical Sprue 41 47
Whipple's Disease 9 42
Tropheryma Whippelii Infection 41
Whipples Disease 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
congenital muscular dystrophy with integrin alpha-7 deficiency:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages
congenital muscular dystrophy with integrin alpha-7 deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:8476
ICD9CM27 040.2
NCIt38 C85228
MeSH33 D008061
SNOMED-CT55 41545003
Orphanet47 3452, 34520
MESH via Orphanet34 C531849, D008061
ICD10 via Orphanet26 K90.8+, M14.8*, G71.2
UMLS via Orphanet61 C0023788, C2930851

Summaries for Whipple Disease

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NIH Rare Diseases:41 Whipple disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. the disorder usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes. in the gastrointestinal system it interferes with the body's ability to absorb certain nutrients. this leads to a condition known as malabsorption. whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and malfunctions of the immune system. it is caused by infection from bacteria called tropheryma whippelii. when recognized and treated, whipple disease can usually be cured. untreated, the disease may be fatal. last updated: 8/1/2012

MalaCards based summary: Whipple Disease, also known as intestinal lipodystrophy, is related to pulmonary hypertension and arthritis, and has symptoms including arthritis, malabsorption and abdominal pain. An important gene associated with Whipple Disease is ITGA7 (integrin, alpha 7). Affiliated tissues include eye, lung and brain.

NINDS:42 Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. The disorder can affect any system in the body, including the central nervous system, but usually occurs in the gastrointestinal system. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Neurological symptoms may include abnormalities of eye and facial muscle movements, confusion, seizures, ataxia, memory loss, and vision impairment. Fever, cough, and joint soreness may also be present.

Related Diseases for Whipple Disease

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Diseases related to Whipple Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension10.2
2arthritis10.2
3cerebritis10.2
4uveitis10.1
5hypomagnesemia 1, intestinal10.0
6cerebellar ataxia10.0
7keratopathy10.0
8giardiasis10.0
9glucose intolerance10.0
10panophthalmitis10.0
11posterior uveitis10.0
12adult-onset still's disease10.0
13amyloidosis10.0
14endocarditis10.0
15neuropathy10.0
16peripheral neuropathy10.0
17ataxia10.0
18hypersomnia10.0
19nephritis10.0

Graphical network of diseases related to Whipple Disease:



Diseases related to whipple disease

Symptoms for Whipple Disease

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Symptoms:

 47 (show all 45)
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • mediastinal/hilar adenopathies
  • myoclonus/fasciculations
  • psychic/psychomotor regression/dementia/intellectual decline
  • anorexia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • fever/chilling
  • asthenia/fatigue/weakness
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • hypotension
  • sleep and vigilance disorders
  • myalgia/muscular pain
  • proptosis/exophthalmos
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • thoracic/chest pain
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • edema of the legs/lower limbs
  • impotence/painful erection/priapism/erection troubles
  • hypothyroidy
  • insulin resistance
  • galactorrhea
  • hydrocephaly
  • cranial nerves palsy
  • peripheral neuropathy
  • cranial hypertension
  • encephalitis
  • ataxia/incoordination/trouble of the equilibrium
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • muscle weakness/flaccidity
  • myositis
  • anaemia
  • hyponatremia
  • thirst

HPO human phenotypes related to Whipple Disease:

(show all 41)
id Description Frequency HPO Source Accession
1 arthritis hallmark (90%) HP:0001369
2 malabsorption hallmark (90%) HP:0002024
3 abdominal pain hallmark (90%) HP:0002027
4 anorexia hallmark (90%) HP:0002039
5 developmental regression hallmark (90%) HP:0002376
6 arthralgia hallmark (90%) HP:0002829
7 involuntary movements hallmark (90%) HP:0004305
8 decreased body weight hallmark (90%) HP:0004325
9 abnormality of temperature regulation hallmark (90%) HP:0004370
10 mediastinal lymphadenopathy hallmark (90%) HP:0100721
11 splenomegaly typical (50%) HP:0001744
12 abnormality of the pleura typical (50%) HP:0002103
13 hepatomegaly typical (50%) HP:0002240
14 sleep disturbance typical (50%) HP:0002360
15 hypotension typical (50%) HP:0002615
16 myalgia typical (50%) HP:0003326
17 inflammatory abnormality of the eye typical (50%) HP:0100533
18 hydrocephalus occasional (7.5%) HP:0000238
19 proptosis occasional (7.5%) HP:0000520
20 hypothyroidism occasional (7.5%) HP:0000821
21 insulin resistance occasional (7.5%) HP:0000855
22 seizures occasional (7.5%) HP:0001250
23 muscle weakness occasional (7.5%) HP:0001324
24 abnormality of the myocardium occasional (7.5%) HP:0001637
25 abnormality of the pericardium occasional (7.5%) HP:0001697
26 anemia occasional (7.5%) HP:0001903
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
29 incoordination occasional (7.5%) HP:0002311
30 encephalitis occasional (7.5%) HP:0002383
31 increased intracranial pressure occasional (7.5%) HP:0002516
32 hyponatremia occasional (7.5%) HP:0002902
33 cranial nerve paralysis occasional (7.5%) HP:0006824
34 abnormality of pyramidal motor function occasional (7.5%) HP:0007256
35 generalized hyperpigmentation occasional (7.5%) HP:0007440
36 peripheral neuropathy occasional (7.5%) HP:0009830
37 edema of the lower limbs occasional (7.5%) HP:0010741
38 myositis occasional (7.5%) HP:0100614
39 erectile abnormalities occasional (7.5%) HP:0100639
40 chest pain occasional (7.5%) HP:0100749
41 galactorrhea occasional (7.5%) HP:0100829

Drugs & Therapeutics for Whipple Disease

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Drug clinical trials:

Search ClinicalTrials for Whipple Disease

Search NIH Clinical Center for Whipple Disease

Genetic Tests for Whipple Disease

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Anatomical Context for Whipple Disease

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MalaCards organs/tissues related to Whipple Disease:

31
Eye, Lung, Brain, Heart, Liver, Skin, Spinal cord, Bone, B cells

Animal Models for Whipple Disease or affiliated genes

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Publications for Whipple Disease

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Articles related to Whipple Disease:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Pulmonary hypertension associated with Whipple disease. (25445953)
2014
2
A severe Whipple disease with an immune reconstitution inflammatory syndrome: An additional case of thalidomide efficiency. (24289960)
2013
3
Whipple disease diagnosed with PCR using formalin-fixed paraffin-embedded specimens of the intestinal mucosa. (23318851)
2013
4
Rheumatic and musculoskeletal features of Whipple disease: a report of 29 cases. (24187107)
2013
5
Whipple disease revealed by lung involvement: a case report and literature review. (22670021)
2012
6
Treated Whipple disease with erythema nodosum leprosum-like lesions: cutaneous PAS-positive macrophages slowly decrease with time and are associated with lymphangiectases: a case report. (22123268)
2012
7
Whipple disease with crystalline keratopathy and chronic uveitis. (22965603)
2012
8
Whipple disease mimicking adult-onset Still's disease and treated by anakinra: diagnosis using PCR. (22639877)
2012
9
Whipple disease a century after the initial description: increased recognition of unusual presentations, autoimmune comorbidities, and therapy effects. (22743287)
2012
10
Peripheral neuropathy in Whipples disease: a case report. (22716061)
2012
11
A unique posterior segment manifestation of whipple disease. (25390964)
2012
12
Connecting the dots: the many systemic manifestations of whipple disease. (22347837)
2012
13
The immune reconstitution inflammatory syndrome in whipple disease: a cohort study. (21135294)
2010
14
MR imaging of central nervous system Whipple disease: a 15-year review. (20395395)
2010
15
Primary cerebral Whipple disease presenting as KlA1ver-Bucy syndrome. (19139312)
2009
16
A paradoxical Tropheryma whipplei western blot differentiates patients with whipple disease from asymptomatic carriers. (19635029)
2009
17
Whipple disease: unusual presentation of a protean and sometimes confusing disease. (18538828)
2009
18
Postoperative panophthalmitis caused by Whipple disease. (19402983)
2009
19
Isolated Whipple disease of the brain resembling a tumour. (19194653)
2009
20
Whipple disease. (18301263)
2008
21
Teaching NeuroImage: Oculomasticatory myorhythmia: pathognomonic phenomenology of Whipple disease. (18250283)
2008
22
Exacerbation of Whipple disease by immunosuppressants. (18496383)
2008
23
Neurologically presenting Whipple disease: case report and review of the literature. (18381382)
2008
24
Value of Tropheryma whipplei quantitative polymerase chain reaction assay for the diagnosis of Whipple disease: usefulness of saliva and stool specimens for first-line screening. (18662136)
2008
25
Recurrent orbital inflammation and Whipple disease. (18379941)
2008
26
Isolated CNS Whipple disease with a variant of oculofacial-skeletal myorhythmia (OFSM). (17846404)
2007
27
Isolated CNS Whipple disease: acute onset and relapsing-remitting course. (17577831)
2007
28
Hypersomnia in Whipple disease: case report. (17057900)
2006
29
A case of Whipple disease with pleural effusion diagnosed by means of PCR. (17181935)
2006
30
Whipple disease: a case report and review of the literature. (15974820)
2005
31
Whipple disease associated with giardiasis. (12964113)
2003
32
Treatment of Whipple disease. (14973431)
2003
33
Intracerebral Whipple disease: unusual location and bone destruction. Case report. (12405392)
2002
34
Primary diagnosis of whipple disease manifesting as lymphadenopathy: use of polymerase chain reaction for detection of Tropheryma whippelii. (11764080)
2001
35
Tropheryma whippelii DNA is rare in the intestinal mucosa of patients without other evidence of Whipple disease. (11177314)
2001
36
An unusual spinal presentation of Whipple disease. (11337349)
2001
37
Culture and immunological detection of Tropheryma whippelii from the duodenum of a patient with Whipple disease. (11209175)
2001
38
Successful treatment of Whipple disease diagnosed 36 years after symptom onset. (11605693)
2001
39
Ocular manifestations of Whipple disease: an atypical presentation. (9747687)
1998
40
Treatment of refractory Whipple disease with interferon-gamma. (9867729)
1998
41
Aortic valve endocarditis with Whipple disease. (9163306)
1997
42
Whipple disease confined to the central nervous system in childhood. (8883662)
1996
43
MR of cerebral Whipple disease. (7545865)
1995
44
Whipple disease of the mediastinum. (1692443)
1990
45
MR imaging of CNS relapse of Whipple disease. (1697867)
1990
46
The evolving natural history of neurologic involvement in Whipple disease: a hypothesis. (2456052)
1988
47
Mycobacterium avium-intracellulare complex enteritis: pseudo-Whipple disease in AIDS. (2580424)
1985
48
Computed tomography in Whipple disease. (6195202)
1983
49
Whipple disease. Occurrence in a 76-year-old man with a 20-year prodrome of arthritis. (48564)
1975
50
Whipple disease: light and electron microscopy study. (4138040)
1974

Variations for Whipple Disease

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Clinvar genetic disease variations for Whipple Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ITGA7ITGA7, IVSAS, A-G, -2single nucleotide variantPathogenic
2ITGA7ITGA7, IVSDS, T-C, +2single nucleotide variantPathogenic
3ITGA7ITGA7, 1-BP DEL, 1204GdeletionPathogenic

Expression for genes affiliated with Whipple Disease

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Search GEO for disease gene expression data for Whipple Disease.

Pathways for genes affiliated with Whipple Disease

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Compounds for genes affiliated with Whipple Disease

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GO Terms for genes affiliated with Whipple Disease

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Products for genes affiliated with Whipple Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Whipple Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet