MCID: PRM158
MIFTS: 23

Primary Intestinal Lymphangiectasia malady

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

Aliases & Classifications for Primary Intestinal Lymphangiectasia

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Aliases & Descriptions for Primary Intestinal Lymphangiectasia:

Name: Primary Intestinal Lymphangiectasia 48 68
Familial Waldmann's Disease 48 68
Waldmann Disease 48 68
 
Primary Intestinal Lymphangiectasis 48
Waldmann's Disease 48

Classifications:



Summaries for Primary Intestinal Lymphangiectasia

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NIH Rare Diseases:48 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 lymphoma, and has symptoms including osteoporosis, lymphedema and thickened skin. Affiliated tissues include small intestine, b cells and skin.

Related Diseases for Primary Intestinal Lymphangiectasia

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Diseases in the Lymphangiectasia, Intestinal family:

primary intestinal lymphangiectasia Secondary Intestinal Lymphangiectasia

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangiectasia, intestinal11.7
2lymphoma10.0
3osteomalacia9.9
4lymphangiectasis9.9
5b-cell lymphomas9.9
6protein-losing enteropathy9.9
7osteoporosis9.8
8diffuse large b-cell lymphoma9.7
9nephrotic syndrome9.7
10tuberous sclerosis9.7
11lymphangioma9.7
12adenocarcinoma9.7
13refractory anemia9.7

Graphical network of diseases related to Primary Intestinal Lymphangiectasia:



Diseases related to primary intestinal lymphangiectasia

Symptoms & Phenotypes for Primary Intestinal Lymphangiectasia

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Human phenotypes related to Primary Intestinal Lymphangiectasia:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 osteoporosis64 HP:0000939
2 lymphedema64 HP:0001004
3 thickened skin64 HP:0001072
4 seizures64 HP:0001250
5 meningitis64 HP:0001287
6 failure to thrive64 HP:0001508
7 pericardial effusion64 HP:0001698
8 hydrops fetalis64 HP:0001789
9 weight loss64 HP:0001824
10 lymphopenia64 HP:0001888
11 iron deficiency anemia64 HP:0001891
12 diarrhea64 HP:0002014
13 nausea and vomiting64 HP:0002017
14 malabsorption64 HP:0002024
15 abdominal pain64 HP:0002027
16 pleural effusion64 HP:0002202
17 ileus64 HP:0002595
18 immunodeficiency64 HP:0002721
19 hypocalcemia64 HP:0002901
20 hypoalbuminemia64 HP:0003073
21 hypoproteinemia64 HP:0003075
22 decreased antibody level in blood64 HP:0004313
23 edema of the lower limbs64 HP:0010741
24 b-cell lymphoma64 HP:0012191
25 chylous ascites64 HP:0012281
26 fatigue64 HP:0012378
27 vaginal lymphocele64 HP:0100676
28 gangrene64 HP:0100758
29 abnormality of the lymphatic system64 HP:0100763
30 verrucae64 HP:0200043

Drugs & Therapeutics for Primary Intestinal Lymphangiectasia

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Interventional clinical trials:

Search ClinicalTrials, 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:

36
Small intestine, B cells, Skin, Liver

Publications for Primary Intestinal Lymphangiectasia

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Articles related to Primary Intestinal Lymphangiectasia:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. (26908672)
2016
2
Primary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report. (26962779)
2016
3
Surgical therapy of primary intestinal lymphangiectasia in adults. (26169531)
2015
4
Primary intestinal lymphangiectasia with generalized warts. (26217101)
2015
5
How to treat an extensive form of primary intestinal lymphangiectasia? (26109821)
2015
6
Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum. (26211692)
2015
7
Severe Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report. (26405709)
2015
8
Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC). (25943403)
2015
9
Primary intestinal lymphangiectasia: Minireview. (25325063)
2014
10
Liver fibrosis in primary intestinal lymphangiectasia: An undervalued topic. (25276285)
2014
11
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. (24488065)
2014
12
Primary intestinal lymphangiectasia: is it always bad? Two cases with different outcome. (23626516)
2013
13
Is there a risk of pubertal worsening in primary intestinal lymphangiectasia? (23698711)
2013
14
Diffuse large B-cell lymphoma recurrence complicating primary intestinal lymphangiectasia. (23591283)
2013
15
Evaluation of primary intestinal lymphangiectasia by capsule endoscopy. (23526519)
2013
16
Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report. (23316917)
2013
17
Primary intestinal lymphangiectasia or Waldmann's disease: a rare cause of lower gastrointestinal bleeding. (22980601)
2012
18
Late-onset primary intestinal lymphangiectasia successfully managed with octreotide: a case report. (23555496)
2012
19
Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy. (22110841)
2011
20
Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia. (21191781)
2011
21
Forty years of shortness of breath and lower extremity edema. Diagnosis: Primary intestinal lymphangiectasia (Waldmann's disease). (21641905)
2011
22
A rare case of primary intestinal lymphangiectasia diagnosed by double balloon endoscopy. (21332012)
2010
23
Primary intestinal lymphangiectasia in children: is octreotide an effective and safe option in the treatment? (20512058)
2010
24
Primary intestinal lymphangiectasia: four case reports and a review of the literature. (20198428)
2010
25
Digital clubbing in primary intestinal lymphangiectasia: a case report. (20812055)
2010
26
Partial enterectomy: treatment for primary intestinal lymphangiectasia in four cases. (20368101)
2010
27
Primary intestinal lymphangiectasia. (19887697)
2009
28
Increased surface receptor Fas (CD95) levels on CD4+ lymphocytes in patients with primary intestinal lymphangiectasia. (18855225)
2009
29
Primary intestinal lymphangiectasia successfully treated by segmental resections of small bowel. (19853733)
2009
30
Evidence for medium chain triglycerides in the treatment of primary intestinal lymphangiectasia. (19449286)
2009
31
Medical image. Recurrent muscle cramps in chronic diarrhoea. Primary intestinal lymphangiectasia. (19966872)
2009
32
Primary intestinal lymphangiectasia (Waldmann's disease). (18294365)
2008
33
Photoclinic: primary intestinal lymphangiectasia. (18588385)
2008
34
Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal. (17453239)
2008
35
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. (18431016)
2007
36
A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: a case report. (17465517)
2007
37
Recurrent and opportunistic infections in children with primary intestinal lymphangiectasia. (17325562)
2007
38
Use of capsule endoscopy in children with primary intestinal lymphangiectasia. (16996365)
2006
39
High-resolution magnifying video endoscopy in primary intestinal lymphangiectasia: a new role for endoscopy? (15933946)
2005
40
Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia. (16292099)
2005
41
Primary intestinal lymphangiectasia: a response to medium-chain triglyceride formula. (16188830)
2005
42
Primary Intestinal Lymphangiectasia. (14723832)
2004
43
Group G streptococcal empyema complicating primary intestinal lymphangiectasia. (12960729)
2003
44
Operative ascitic drainage in a patient with primary intestinal lymphangiectasia. (12648135)
2003
45
Primary intestinal lymphangiectasia, nephrotic syndrome and clomid-induced triplet pregnancy. (19861780)
2001
46
Primary intestinal lymphangiectasia: a rare disease in the differential diagnosis of acute abdomen. (11698774)
2001
47
Primary intestinal lymphangiectasia successfully treated with octreotide. (11227670)
2001
48
Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. (10896925)
2000
49
Ultrasonographic features of long-standing primary intestinal lymphangiectasia. (9700215)
1998
50
Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. (8691257)
1996

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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GO Terms for genes affiliated with Primary Intestinal Lymphangiectasia

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Sources for Primary Intestinal Lymphangiectasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet