MCID: PRM158
MIFTS: 32

Primary Intestinal Lymphangiectasia

Categories: Rare diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Primary Intestinal Lymphangiectasia

MalaCards integrated aliases for Primary Intestinal Lymphangiectasia:

Name: Primary Intestinal Lymphangiectasia 49 69
Familial Waldmann's Disease 49 69
Waldmann Disease 49 69
Primary Intestinal Lymphangiectasis 49
Waldmann's Disease 49

Classifications:



Summaries for Primary Intestinal Lymphangiectasia

NIH Rare Diseases : 49 Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency. Treatment involves a special long-term diet. Last updated: 10/6/2015

MalaCards based summary : Primary Intestinal Lymphangiectasia, also known as familial waldmann's disease, is related to lymphangiectasia, intestinal and complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, and has symptoms including osteoporosis, lymphedema and thickened skin. An important gene associated with Primary Intestinal Lymphangiectasia is CD55 (CD55 Molecule (Cromer Blood Group)). Affiliated tissues include small intestine, b cells and skin.

Related Diseases for Primary Intestinal Lymphangiectasia

Graphical network of the top 20 diseases related to Primary Intestinal Lymphangiectasia:



Diseases related to Primary Intestinal Lymphangiectasia

Symptoms & Phenotypes for Primary Intestinal Lymphangiectasia

Human phenotypes related to Primary Intestinal Lymphangiectasia:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 occasional (7.5%) HP:0000939
2 lymphedema 31 hallmark (90%) HP:0001004
3 thickened skin 31 occasional (7.5%) HP:0001072
4 seizures 31 occasional (7.5%) HP:0001250
5 meningitis 31 occasional (7.5%) HP:0001287
6 failure to thrive 31 frequent (33%) HP:0001508
7 pericardial effusion 31 occasional (7.5%) HP:0001698
8 hydrops fetalis 31 occasional (7.5%) HP:0001789
9 weight loss 31 frequent (33%) HP:0001824
10 lymphopenia 31 hallmark (90%) HP:0001888
11 iron deficiency anemia 31 occasional (7.5%) HP:0001891
12 diarrhea 31 frequent (33%) HP:0002014
13 nausea and vomiting 31 frequent (33%) HP:0002017
14 malabsorption 31 frequent (33%) HP:0002024
15 abdominal pain 31 frequent (33%) HP:0002027
16 pleural effusion 31 occasional (7.5%) HP:0002202
17 ileus 31 occasional (7.5%) HP:0002595
18 immunodeficiency 31 frequent (33%) HP:0002721
19 hypocalcemia 31 occasional (7.5%) HP:0002901
20 hypoalbuminemia 31 hallmark (90%) HP:0003073
21 hypoproteinemia 31 hallmark (90%) HP:0003075
22 decreased antibody level in blood 31 hallmark (90%) HP:0004313
23 edema of the lower limbs 31 hallmark (90%) HP:0010741
24 b-cell lymphoma 31 occasional (7.5%) HP:0012191
25 chylous ascites 31 occasional (7.5%) HP:0012281
26 fatigue 31 frequent (33%) HP:0012378
27 vaginal lymphocele 31 occasional (7.5%) HP:0100676
28 gangrene 31 occasional (7.5%) HP:0100758
29 abnormality of the lymphatic system 31 hallmark (90%) HP:0100763
30 verrucae 31 occasional (7.5%) HP:0200043

Drugs & Therapeutics for Primary Intestinal Lymphangiectasia

Search Clinical Trials , NIH Clinical Center for Primary Intestinal Lymphangiectasia

Genetic Tests for Primary Intestinal Lymphangiectasia

Anatomical Context for Primary Intestinal Lymphangiectasia

MalaCards organs/tissues related to Primary Intestinal Lymphangiectasia:

38
Small Intestine, B Cells, Skin, Liver

Publications for Primary Intestinal Lymphangiectasia

Articles related to Primary Intestinal Lymphangiectasia:

(show top 50) (show all 72)
# Title Authors Year
1
A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation. ( 28491220 )
2017
2
Primary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography. ( 28345300 )
2017
3
Cutaneous lymphangiectasia in a patient with primary intestinal lymphangiectasia. ( 28762470 )
2017
4
Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect. ( 28571224 )
2017
5
Exacerbation of primary intestinal lymphangiectasia during late pregnancy and recovery after delivery: A case report and literature review. ( 28858117 )
2017
6
Primary intestinal lymphangiectasia in an elderly female patient: A case report on a rare cause of secondary immunodeficiency. ( 28767614 )
2017
7
Video Capsule Endoscopy to Diagnose Primary Intestinal Lymphangiectasia in a 14-Month-Old Child. ( 28333772 )
2017
8
Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex. ( 28614114 )
2017
9
Primary Intestinal Lymphangiectasia (Waldmann's Disease) Presenting with Chylous Effusions in a 15-Year-Old. ( 28969188 )
2017
10
Nutritional therapy and effect assessment of infants with primary intestinal lymphangiectasia: Case reports. ( 29390480 )
2017
11
Primary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report. ( 26962779 )
2016
12
Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. ( 26908672 )
2016
13
Severe Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report. ( 26405709 )
2015
14
Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC). ( 25943403 )
2015
15
How to treat an extensive form of primary intestinal lymphangiectasia? ( 26109821 )
2015
16
Primary intestinal lymphangiectasia with generalized warts. ( 26217101 )
2015
17
Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum. ( 26211692 )
2015
18
Surgical therapy of primary intestinal lymphangiectasia in adults. ( 26169531 )
2015
19
Liver fibrosis in primary intestinal lymphangiectasia: An undervalued topic. ( 25276285 )
2014
20
Primary intestinal lymphangiectasia: Minireview. ( 25325063 )
2014
21
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. ( 24488065 )
2014
22
Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report. ( 23316917 )
2013
23
Primary intestinal lymphangiectasia: is it always bad? Two cases with different outcome. ( 23626516 )
2013
24
Diffuse large B-cell lymphoma recurrence complicating primary intestinal lymphangiectasia. ( 23591283 )
2013
25
Evaluation of primary intestinal lymphangiectasia by capsule endoscopy. ( 23526519 )
2013
26
Is there a risk of pubertal worsening in primary intestinal lymphangiectasia? ( 23698711 )
2013
27
Late-onset primary intestinal lymphangiectasia successfully managed with octreotide: a case report. ( 23555496 )
2012
28
Primary intestinal lymphangiectasia or Waldmann's disease: a rare cause of lower gastrointestinal bleeding. ( 22980601 )
2012
29
Forty years of shortness of breath and lower extremity edema. Diagnosis: Primary intestinal lymphangiectasia (Waldmann's disease). ( 21641905 )
2011
30
Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia. ( 21191781 )
2011
31
Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy. ( 22110841 )
2011
32
Primary intestinal lymphangiectasia in children: is octreotide an effective and safe option in the treatment? ( 20512058 )
2010
33
Digital clubbing in primary intestinal lymphangiectasia: a case report. ( 20812055 )
2010
34
Primary intestinal lymphangiectasia: four case reports and a review of the literature. ( 20198428 )
2010
35
A rare case of primary intestinal lymphangiectasia diagnosed by double balloon endoscopy. ( 21332012 )
2010
36
Partial enterectomy: treatment for primary intestinal lymphangiectasia in four cases. ( 20368101 )
2010
37
Primary intestinal lymphangiectasia. ( 19887697 )
2009
38
Increased surface receptor Fas (CD95) levels on CD4+ lymphocytes in patients with primary intestinal lymphangiectasia. ( 18855225 )
2009
39
Medical image. Recurrent muscle cramps in chronic diarrhoea. Primary intestinal lymphangiectasia. ( 19966872 )
2009
40
Primary intestinal lymphangiectasia successfully treated by segmental resections of small bowel. ( 19853733 )
2009
41
Evidence for medium chain triglycerides in the treatment of primary intestinal lymphangiectasia. ( 19449286 )
2009
42
Primary intestinal lymphangiectasia (Waldmann's disease). ( 18294365 )
2008
43
Photoclinic: primary intestinal lymphangiectasia. ( 18588385 )
2008
44
Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal. ( 17453239 )
2008
45
Recurrent and opportunistic infections in children with primary intestinal lymphangiectasia. ( 17325562 )
2007
46
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. ( 18431016 )
2007
47
A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: a case report. ( 17465517 )
2007
48
Use of capsule endoscopy in children with primary intestinal lymphangiectasia. ( 16996365 )
2006
49
Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia. ( 16292099 )
2005
50
High-resolution magnifying video endoscopy in primary intestinal lymphangiectasia: a new role for endoscopy? ( 15933946 )
2005

Variations for Primary Intestinal Lymphangiectasia

Expression for Primary Intestinal Lymphangiectasia

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

Pathways for Primary Intestinal Lymphangiectasia

GO Terms for Primary Intestinal Lymphangiectasia

Sources for Primary Intestinal Lymphangiectasia

3 CDC
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11 DGIdb
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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