MCID: PRM158
MIFTS: 30

Primary Intestinal Lymphangiectasia malady

Cardiovascular diseases, Gastrointestinal diseases, Rare diseases, Immune diseases categories
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Summaries for Primary Intestinal Lymphangiectasia

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Wikipedia:65 Waldmann disease, also known as Waldmann\'s disease and Primary intestinal lymphangiectasia, is a rare... more...

MalaCards based summary: Primary Intestinal Lymphangiectasia, also known as waldmann disease, is related to b-cell lymphomas and diffuse large b-cell lymphoma, and has symptoms including edema of the legs/lower limbs, anomalies of the lymphatic system and agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency. Affiliated tissues include small intestine, skin and b cells.

Description from OMIM:46 152800

Aliases & Classifications for Primary Intestinal Lymphangiectasia

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Sources:
48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Primary Intestinal Lymphangiectasia, Aliases & Descriptions:

Name: Primary Intestinal Lymphangiectasia 48 46 62
 
Waldmann Disease 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
primary intestinal lymphangiectasia:
Age of onset: Variable; Age of death: Any age


External Ids:

OMIM46 152800
MESH via Orphanet35 C536567
ICD10 via Orphanet26 I89.0
UMLS via Orphanet63 C0267372, C2931241

Related Diseases for Primary Intestinal Lymphangiectasia

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Diseases related to Primary Intestinal Lymphangiectasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1b-cell lymphomas10.4
2diffuse large b-cell lymphoma10.2
3protein-losing enteropathy10.2
4adenocarcinoma10.2
5lymphangioma10.2
6nephrotic syndrome10.2
7waldmann disease10.2

Graphical network of diseases related to Primary Intestinal Lymphangiectasia:



Diseases related to primary intestinal lymphangiectasia

Symptoms for Primary Intestinal Lymphangiectasia

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Symptoms by clinical synopsis from OMIM:

152800

Clinical features from OMIM:

152800

Symptoms:

48 (show all 28)
  • edema of the legs/lower limbs
  • anomalies of the lymphatic system
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • lymphopenia
  • hypoproteinemia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • warts/papillomas
  • ascitis
  • intestinal obstruction/ileus
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • gangrena/necrosis
  • vaginal hydrocele/hematocele/pyocele/lymphocele/varicocele
  • meningitis/meningeal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • ferropenic anemia
  • hypocalcemia
  • lymphoma
  • hydrops fetalis

HPO human phenotypes related to Primary Intestinal Lymphangiectasia:

(show all 33)
id Description Frequency HPO Source Accession
1 lymphopenia hallmark (90%) HP:0001888
2 hypoproteinemia hallmark (90%) HP:0003075
3 hypogammaglobulinemia hallmark (90%) HP:0004313
4 edema of the lower limbs hallmark (90%) HP:0010741
5 abnormality of the lymphatic system hallmark (90%) HP:0100763
6 weight loss typical (50%) HP:0001824
7 nausea and vomiting typical (50%) HP:0002017
8 malabsorption typical (50%) HP:0002024
9 abdominal pain typical (50%) HP:0002027
10 thickened skin occasional (7.5%) HP:0001072
11 seizures occasional (7.5%) HP:0001250
12 meningitis occasional (7.5%) HP:0001287
13 ascites occasional (7.5%) HP:0001541
14 abnormality of the pericardium occasional (7.5%) HP:0001697
15 hydrops fetalis occasional (7.5%) HP:0001789
16 iron deficiency anemia occasional (7.5%) HP:0001891
17 abnormality of the pleura occasional (7.5%) HP:0002103
18 lymphoma occasional (7.5%) HP:0002665
19 hypocalcemia occasional (7.5%) HP:0002901
20 reduced bone mineral density occasional (7.5%) HP:0004349
21 intestinal obstruction occasional (7.5%) HP:0005214
22 vaginal hernia occasional (7.5%) HP:0100672
23 gangrene occasional (7.5%) HP:0100758
24 verrucae occasional (7.5%) HP:0200043
25 autosomal dominant inheritance HP:0000006
26 abnormality of the hair HP:0001595
27 lymphopenia HP:0001888
28 malabsorption HP:0002024
29 intestinal lymphangiectasia HP:0002593
30 igg deficiency HP:0004315
31 prominent floating ribs HP:0006641
32 neonatal hypoproteinemia HP:0008360
33 edema of the lower limbs HP:0010741

Drugs & Therapeutics for Primary Intestinal Lymphangiectasia

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Drug clinical trials:

Search ClinicalTrials for Primary Intestinal Lymphangiectasia

Search NIH Clinical Center for Primary Intestinal Lymphangiectasia

Genetic Tests for Primary Intestinal Lymphangiectasia

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Anatomical Context for Primary Intestinal Lymphangiectasia

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MalaCards organs/tissues related to Primary Intestinal Lymphangiectasia:

32
Small intestine, Skin, B cells, Liver

Animal Models for Primary Intestinal Lymphangiectasia or affiliated genes

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Publications for Primary Intestinal Lymphangiectasia

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Articles related to Primary Intestinal Lymphangiectasia:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. (24488065)
2014
2
Primary intestinal lymphangiectasia: Minireview. (25325063)
2014
3
Liver fibrosis in primary intestinal lymphangiectasia: An undervalued topic. (25276285)
2014
4
Diffuse large B-cell lymphoma recurrence complicating primary intestinal lymphangiectasia. (23591283)
2013
5
Primary intestinal lymphangiectasia: is it always bad? Two cases with different outcome. (23626516)
2013
6
Is there a risk of pubertal worsening in primary intestinal lymphangiectasia? (23698711)
2013
7
Evaluation of primary intestinal lymphangiectasia by capsule endoscopy. (23526519)
2013
8
Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report. (23316917)
2013
9
Late-onset primary intestinal lymphangiectasia successfully managed with octreotide: a case report. (23555496)
2012
10
Primary intestinal lymphangiectasia or Waldmann's disease: a rare cause of lower gastrointestinal bleeding. (22980601)
2012
11
Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy. (22110841)
2011
12
Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia. (21191781)
2011
13
Forty years of shortness of breath and lower extremity edema. Diagnosis: Primary intestinal lymphangiectasia (Waldmann's disease). (21641905)
2011
14
Digital clubbing in primary intestinal lymphangiectasia: a case report. (20812055)
2010
15
Primary intestinal lymphangiectasia: four case reports and a review of the literature. (20198428)
2010
16
Primary intestinal lymphangiectasia in children: is octreotide an effective and safe option in the treatment? (20512058)
2010
17
A rare case of primary intestinal lymphangiectasia diagnosed by double balloon endoscopy. (21332012)
2010
18
Primary intestinal lymphangiectasia successfully treated by segmental resections of small bowel. (19853733)
2009
19
Medical image. Recurrent muscle cramps in chronic diarrhoea. Primary intestinal lymphangiectasia. (19966872)
2009
20
Increased surface receptor Fas (CD95) levels on CD4+ lymphocytes in patients with primary intestinal lymphangiectasia. (18855225)
2009
21
Evidence for medium chain triglycerides in the treatment of primary intestinal lymphangiectasia. (19449286)
2009
22
Primary intestinal lymphangiectasia (Waldmann's disease). (18294365)
2008
23
Photoclinic: primary intestinal lymphangiectasia. (18588385)
2008
24
Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal. (17453239)
2008
25
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. (18431016)
2007
26
A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: a case report. (17465517)
2007
27
Recurrent and opportunistic infections in children with primary intestinal lymphangiectasia. (17325562)
2007
28
Use of capsule endoscopy in children with primary intestinal lymphangiectasia. (16996365)
2006
29
Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia. (16292099)
2005
30
High-resolution magnifying video endoscopy in primary intestinal lymphangiectasia: a new role for endoscopy? (15933946)
2005
31
Primary intestinal lymphangiectasia: a response to medium-chain triglyceride formula. (16188830)
2005
32
Primary Intestinal Lymphangiectasia. (14723832)
2004
33
Group G streptococcal empyema complicating primary intestinal lymphangiectasia. (12960729)
2003
34
Operative ascitic drainage in a patient with primary intestinal lymphangiectasia. (12648135)
2003
35
Primary intestinal lymphangiectasia successfully treated with octreotide. (11227670)
2001
36
Primary intestinal lymphangiectasia: a rare disease in the differential diagnosis of acute abdomen. (11698774)
2001
37
Primary intestinal lymphangiectasia, nephrotic syndrome and clomid-induced triplet pregnancy. (19861780)
2001
38
Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. (10896925)
2000
39
Ultrasonographic features of long-standing primary intestinal lymphangiectasia. (9700215)
1998
40
Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. (8691257)
1996
41
Endoscopic features of long-standing primary intestinal lymphangiectasia. (7615236)
1995
42
Immunological study in primary intestinal lymphangiectasia. (7509299)
1994
43
Adenocarcinoma of unknown origin in a patient with primary intestinal lymphangiectasia. (1500667)
1992
44
Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia. (2032374)
1991
45
Endoscopic diagnosis of primary intestinal lymphangiectasia using a high-fat meal. (3720681)
1986
46
Primary intestinal lymphangiectasia in three dogs: a morphological and immunopathological investigation. (3984156)
1985
47
Primary intestinal lymphangiectasia: clinical and CT findings. (4019833)
1985
48
Primary intestinal lymphangiectasia. Case report with radiological and ultrastructural study. (7227669)
1981
49
Primary intestinal lymphangiectasia. Comparison between endoscopic and radiological findings. (7451231)
1980
50
Primary intestinal lymphangiectasia: surgical implications. (5026674)
1972

Variations for Primary Intestinal Lymphangiectasia

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Expression for genes affiliated with Primary Intestinal Lymphangiectasia

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Search GEO for disease gene expression data for Primary Intestinal Lymphangiectasia.

Pathways for genes affiliated with Primary Intestinal Lymphangiectasia

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Compounds for genes affiliated with Primary Intestinal Lymphangiectasia

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GO Terms for genes affiliated with Primary Intestinal Lymphangiectasia

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Products for genes affiliated with Primary Intestinal Lymphangiectasia

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Sources for Primary Intestinal Lymphangiectasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet