MCID: INT191
MIFTS: 39

Intestinal Lymphangiectasia malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Immune diseases, Cardiovascular diseases categories

Aliases & Classifications for Intestinal Lymphangiectasia

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Aliases & Descriptions for Intestinal Lymphangiectasia:

Name: Intestinal Lymphangiectasia 45


Classifications:



Summaries for Intestinal Lymphangiectasia

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NIH Rare Diseases:45 Intestinal lymphangiectasia is a rare digestive disorder characterized by abnormally enlarged lymph vessels supplying the lining of the small intestine. affected people may experience intermittent diarrhea, nausea, vomiting, swelling of the limbs and abdominal discomfort. intestinal lymphangiectasia can be congenital (also called primary intestinal lymphangiectasia or waldmann disease) in which case it affects children and young adults (mean age of onset, 11 y); it can also be associated with a variety of other conditions and affect older adults. treatment generally involves control of symptoms with dietary and/or behavioral modifications and the use of certain medications. last updated: 10/6/2015

MalaCards based summary: Intestinal Lymphangiectasia is related to primary intestinal lymphangiectasia and protein-losing enteropathy, and has symptoms including lymphopenia, malabsorption and decreased antibody level in blood. An important gene associated with Intestinal Lymphangiectasia is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways are Heart Development and HIF1Alpha Pathway. Affiliated tissues include small intestine, skin and liver, and related mouse phenotypes are normal and homeostasis/metabolism.

Related Diseases for Intestinal Lymphangiectasia

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Diseases in the Intestinal Lymphangiectasia family:

Primary Intestinal Lymphangiectasia Secondary Intestinal Lymphangiectasia

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1primary intestinal lymphangiectasia11.0
2protein-losing enteropathy10.8
3aplasia cutis congenita intestinal lymphangiectasia10.6
4hennekam syndrome10.5
5secondary intestinal lymphangiectasia10.5
6lymphedema10.3
7yellow nail syndrome10.3
8nephrotic syndrome10.3
9chylous ascites10.3
10systemic lupus erythematosus10.3
11hennekam lymphangiectasia-lymphedema syndrome 210.3
12hennekam lymphangiectasia-lymphedema syndrome 110.3
13b-cell lymphomas10.3
14liver cirrhosis10.3
15hypoparathyroidism10.3
16constrictive pericarditis10.3
17hemolytic-uremic syndrome10.3
18lymphangitis10.3
19diarrhea10.3
20lupus erythematosus10.3
21pericarditis10.3
22peritonitis10.3
23tuberculosis10.3
24aplasia cutis congenita10.3
25hemihypertrophy10.3
26hennekam van der horst syndrome10.2CCBE1, FAT4
27warburg micro syndrome10.2CCBE1, FAT4
28allergic urticaria10.1ALB, CCBE1
29neuroblastoma10.1
30multiple myeloma10.1
31neurofibromatosis, type 110.1
32wiskott-aldrich syndrome10.1
33incontinentia pigmenti10.1
34alopecia10.1
35diffuse large b-cell lymphoma10.1
36hepatitis10.1
37waldenstrom macroglobulinemia10.1
38polydactyly10.1
39tuberous sclerosis10.1
40lutembacher's syndrome10.1
41macroglobulinemia10.1
42amebiasis10.1
43steatorrhea10.1
44appendicitis10.1
45chordoid meningioma10.1
46herpes zoster10.1
47giardiasis10.1
48duodenitis10.1
49incontinentia pigmenti achromians10.1
50neurofibromatosis10.1

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



Diseases related to intestinal lymphangiectasia

Symptoms for Intestinal Lymphangiectasia

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HPO human phenotypes related to Intestinal Lymphangiectasia:

(show all 17)
id Description Frequency HPO Source Accession
1 lymphopenia hallmark (90%) HP:0001888
2 malabsorption hallmark (90%) HP:0002024
3 decreased antibody level in blood 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 abnormality of the ribs typical (50%) HP:0000772
7 hypocalcemia typical (50%) HP:0002901
8 abnormal blistering of the skin typical (50%) HP:0008066
9 immunologic hypersensitivity typical (50%) HP:0100326
10 skin ulcer typical (50%) HP:0200042
11 visual impairment occasional (7.5%) HP:0000505
12 thickened skin occasional (7.5%) HP:0001072
13 ascites occasional (7.5%) HP:0001541
14 abnormality of the pericardium occasional (7.5%) HP:0001697
15 abnormality of the pleura occasional (7.5%) HP:0002103
16 neoplasm occasional (7.5%) HP:0002664
17 osteomyelitis occasional (7.5%) HP:0002754

Drugs & Therapeutics for Intestinal Lymphangiectasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Intestinal Lymphangiectasia

Genetic Tests for Intestinal Lymphangiectasia

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Anatomical Context for Intestinal Lymphangiectasia

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MalaCards organs/tissues related to Intestinal Lymphangiectasia:

33
Small intestine, Skin, Liver, Bone, B cells, Lymph node, T cells

Animal Models for Intestinal Lymphangiectasia or affiliated genes

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MGI Mouse Phenotypes related to Intestinal Lymphangiectasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.2ALB, CCBE1, FIGF, FLT4, FOXC2, SOX18
2MP:00053766.9ALB, CCBE1, FIGF, FLT4, FOXC2, SOX18
3MP:00053856.9FAT4, FIGF, FLT4, FOXC2, LYVE1, SOX18
4MP:00107686.9ALB, CCBE1, FAT4, FIGF, FLT4, FOXC2
5MP:00053876.8CCBE1, FIGF, FLT4, FOXC2, LYVE1, SOX18

Publications for Intestinal Lymphangiectasia

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Articles related to Intestinal Lymphangiectasia:

(show top 50)    (show all 256)
idTitleAuthorsYear
1
Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum. (26211692)
2015
2
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. (24488065)
2014
3
The clinical efficacy of dietary fat restriction in treatment of dogs with intestinal lymphangiectasia. (24673630)
2014
4
Primary intestinal lymphangiectasia: Minireview. (25325063)
2014
5
Diffuse large B-cell lymphoma recurrence complicating primary intestinal lymphangiectasia. (23591283)
2013
6
Duodenal endoscopic findings and histopathologic confirmation of intestinal lymphangiectasia in dogs. (22827501)
2012
7
Intestinal lymphangiectasia associated with recurrence of histiocytosis X. (21947159)
2011
8
Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy. (22110841)
2011
9
Secondary intestinal lymphangiectasia due to multiple myeloma. (21092952)
2011
10
Clinical outcome of nutrition-oriented intervention for primary intestinal lymphangiectasia. (21191781)
2011
11
Digital clubbing in primary intestinal lymphangiectasia: a case report. (20812055)
2010
12
Intestinal lymphangiectasia presenting with duodeno-jejunal polyposis: enteroscopic findings. (21086252)
2010
13
Primary intestinal lymphangiectasia successfully treated by segmental resections of small bowel. (19853733)
2009
14
Primary intestinal lymphangiectasia (Waldmann's disease). (18294365)
2008
15
Intestinal lymphangiectasia presenting as abdominal mass. (17321261)
2007
16
Intestinal lymphangiectasia with protein-losing enteropathy in Waldenstrom macroglobulinemia. (17632262)
2007
17
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. (18431016)
2007
18
Use of capsule endoscopy in children with primary intestinal lymphangiectasia. (16996365)
2006
19
Enteral nutrition as a primary therapy for intestinal lymphangiectasia: value of elemental diet and polymeric diet compared with total parenteral nutrition. (16110837)
2005
20
Successful resection of localized intestinal lymphangiectasia post-Fontan: role of (99m)technetium-dextran scintigraphy. (12949320)
2003
21
Congenital intestinal lymphangiectasia: CT demonstration in a young child. (12932684)
2003
22
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
23
Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. (11841381)
2002
24
Stable reversal of pathologic signs of primitive intestinal lymphangiectasia with a hypolipidic, MCT-enriched diet. (10758368)
2000
25
Ultrasonographic features of long-standing primary intestinal lymphangiectasia. (9700215)
1998
26
Octreotide in the treatment of intestinal lymphangiectasia. (9744700)
1998
27
Characteristic endoscopic features of intestinal lymphangiectasia: correlation with histological findings. (9058131)
1997
28
Intestinal lymphangiectasia due to recurrent giardiasis. (8607534)
1996
29
Intestinal lymphangiectasia. (9057388)
1996
30
Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. (8691257)
1996
31
Endoscopic features of long-standing primary intestinal lymphangiectasia. (7615236)
1995
32
Infantile intestinal lymphangiectasia and chylous ascites in Saudi Arabia. (17590685)
1993
33
Intestinal lymphangiectasia associated with angiofollicular lymph node hyperplasia (Castleman's disease). (1740268)
1992
34
Intestinal lymphangiectasia masquerading as coeliac disease. (1721792)
1991
35
The local mucosal immune system in intestinal lymphangiectasia. (3184157)
1988
36
Endoscopic diagnosis of primary intestinal lymphangiectasia using a high-fat meal. (3720681)
1986
37
Dietary management of intestinal lymphangiectasia complicated by short gut syndrome. (3700137)
1986
38
Intestinal lymphangiectasia in a dog. (16031026)
1984
39
Primary intestinal lymphangiectasia. Case report with radiological and ultrastructural study. (7227669)
1981
40
Severe enamel hypoplasia in a case of intestinal lymphangiectasia: a rare protein-losing enteropathy. (266150)
1977
41
Malignant lymphoma and extensive viral wart formation in a patient with intestinal lymphangiectasia and lymphocyte depletion. (604991)
1977
42
Primary intestinal lymphangiectasia: surgical implications. (5026674)
1972
43
Intestinal lymphangiectasia. (5280865)
1971
44
Intestinal lymphangiectasia. (5486217)
1970
45
Studies of the immunologic defects associated with intestinal lymphangiectasia, with some observations on dietary control of chylous ascites. (4181615)
1968
46
Chronic hypoalbuminemia and edema associated with intestinal lymphangiectasia. (5898076)
1965
47
INTESTINAL LYMPHANGIECTASIA MECHANISM OF ENTERIC LOSS OF PLASMA-PROTEIN AND FAT. (14234205)
1965
48
LOW FAT DIET IN INTESTINAL LYMPHANGIECTASIA. (14202400)
1964
49
INTESTINAL LYMPHANGIECTASIA. (14226225)
1964
50
SYSTEMIC LYMPHATIC ABNORMALITIES ASSOCIATED WITH GASTROINTESTINAL PROTEIN LOSS SECONDARY TO INTESTINAL LYMPHANGIECTASIA. (14134004)
1963

Variations for Intestinal Lymphangiectasia

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Expression for genes affiliated with Intestinal Lymphangiectasia

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Search GEO for disease gene expression data for Intestinal Lymphangiectasia.

Pathways for genes affiliated with Intestinal Lymphangiectasia

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GO Terms for genes affiliated with Intestinal Lymphangiectasia

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Cellular components related to Intestinal Lymphangiectasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310938.9ALB, FIGF, VEGFC

Biological processes related to Intestinal Lymphangiectasia according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1sprouting angiogenesisGO:000204010.2CCBE1, FLT4
2positive regulation of vascular endothelial growth factor productionGO:001057510.1CCBE1, FLT4
3embryonic heart tube developmentGO:003505010.1FOXC2, SOX18
4vasculature developmentGO:000194410.0FLT4, SOX18
5positive regulation of lymphangiogenesisGO:190149210.0CCBE1, VEGFC
6heart morphogenesisGO:00030079.9FAT4, FOXC2
7regulation of vascular endothelial growth factor receptor signaling pathwayGO:00309479.8FIGF, VEGFC
8positive regulation of cell divisionGO:00517819.8FIGF, VEGFC
9positive regulation of mast cell chemotaxisGO:00607549.8FIGF, VEGFC
10positive regulation of endothelial cell migrationGO:00105959.8CCBE1, FLT4, FOXC2
11blood vessel developmentGO:00015689.7FOXC2, SOX18
12positive chemotaxisGO:00509189.7FIGF, VEGFC
13lymph vessel developmentGO:00019459.7FLT4, FOXC2, SOX18
14induction of positive chemotaxisGO:00509309.6FIGF, VEGFC
15platelet degranulationGO:00025769.3ALB, FIGF, VEGFC
16lymphangiogenesisGO:00019469.3CCBE1, FLT4, FOXC2, SOX18
17angiogenesisGO:00015259.1FIGF, SOX18, VEGFC
18platelet activationGO:00301688.9ALB, FIGF, VEGFC
19vascular endothelial growth factor receptor signaling pathwayGO:00480108.6FIGF, FLT4, FOXC2, VEGFC

Molecular functions related to Intestinal Lymphangiectasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor receptor 3 bindingGO:00431859.4FIGF, VEGFC
2chemoattractant activityGO:00420569.3FIGF, VEGFC

Sources for Intestinal Lymphangiectasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet