MCID: INT191
MIFTS: 39

Intestinal Lymphangiectasia malady

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

Aliases & Classifications for Intestinal Lymphangiectasia

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Aliases & Descriptions for Intestinal Lymphangiectasia:

Name: Intestinal Lymphangiectasia 45
 
Lymphangiectasis, Intestinal 65

Classifications:



External Ids:

UMLS65 C0024215

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 years); 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, also known as lymphangiectasis, intestinal, is related to primary intestinal lymphangiectasia and secondary intestinal lymphangiectasia, 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). Affiliated tissues include small intestine, skin and brain, and related mouse phenotypes are liver/biliary system and normal.

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 84)
idRelated DiseaseScoreTop Affiliating Genes
1primary intestinal lymphangiectasia12.4
2secondary intestinal lymphangiectasia12.2
3aplasia cutis congenita intestinal lymphangiectasia12.2
4hennekam syndrome10.7
5protein-losing enteropathy10.4
6uv-sensitive syndrome10.2CCBE1, FAT4
7lymphoma10.2
8hennekam lymphangiectasia-lymphedema syndrome 210.0
9hennekam lymphangiectasia-lymphedema syndrome 110.0
10lymphangiectasis10.0
11lymphedema10.0
12yellow nail syndrome10.0
13nephrotic syndrome10.0
14chylous ascites10.0
15systemic lupus erythematosus9.9
16b-cell lymphomas9.9
17liver cirrhosis9.9
18hypoparathyroidism9.9
19constrictive pericarditis9.9
20hemolytic-uremic syndrome9.9
21diarrhea9.9
22pericarditis9.9
23tuberculosis9.9
24peritonitis9.9
25lupus erythematosus9.9
26lymphangitis9.9
27aplasia cutis congenita9.9
28hemidystonia9.8FOXC2, SOX18
29oesophagostomiasis9.8FOXC2, SOX18
30neuroblastoma9.8
31multiple myeloma9.8
32neurofibromatosis, type 19.8
33wiskott-aldrich syndrome9.8
34incontinentia pigmenti9.8
35alopecia9.8
36diffuse large b-cell lymphoma9.8
37hepatitis9.8
38waldenstrom macroglobulinemia9.8
39secretory diarrhea9.8
40abdominal tuberculosis9.8
41myeloma9.8
42steatorrhea9.8
43giardiasis9.8
44polydactyly9.8
45tuberous sclerosis9.8
46lymphangioma9.8
47lutembacher's syndrome9.8
48vaginitis9.8
49adenocarcinoma9.8
50incontinentia pigmenti achromians9.8

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

UMLS symptoms related to Intestinal Lymphangiectasia:


pain of lymph node, sucrose intolerance

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, Brain, T cells, Liver, Endothelial, Thyroid

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:00053708.6ALB, CCBE1, FLT4, FOXC2
2MP:00028737.9ALB, CCBE1, FLT4, FOXC2, SOX18
3MP:00053817.8ALB, FAT4, FLT4, FOXC2, SOX18
4MP:00053877.6CCBE1, FLT4, FOXC2, LYVE1, SOX18
5MP:00053857.3FAT4, FLT4, FOXC2, LYVE1, SOX18
6MP:00107687.2ALB, CCBE1, FAT4, FLT4, FOXC2, SOX18

Publications for Intestinal Lymphangiectasia

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Articles related to Intestinal Lymphangiectasia:

(show top 50)    (show all 262)
idTitleAuthorsYear
1
Intestinal lymphangiectasia in children. A favorable response to dietary modifications. (26837404)
2016
2
Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. (26908672)
2016
3
Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum. (26211692)
2015
4
The lymphoscintigraphic manifestation of (99m)Tc-dextran lymphatic imaging in primary intestinal lymphangiectasia. (24488065)
2014
5
The clinical efficacy of dietary fat restriction in treatment of dogs with intestinal lymphangiectasia. (24673630)
2014
6
Primary intestinal lymphangiectasia: Minireview. (25325063)
2014
7
Diffuse large B-cell lymphoma recurrence complicating primary intestinal lymphangiectasia. (23591283)
2013
8
Duodenal endoscopic findings and histopathologic confirmation of intestinal lymphangiectasia in dogs. (22827501)
2012
9
Intestinal lymphangiectasia associated with recurrence of histiocytosis X. (21947159)
2011
10
Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy. (22110841)
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
Focal intestinal lymphangiectasia. (14722552)
2004
21
Successful resection of localized intestinal lymphangiectasia post-Fontan: role of (99m)technetium-dextran scintigraphy. (12949320)
2003
22
Congenital intestinal lymphangiectasia: CT demonstration in a young child. (12932684)
2003
23
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
24
Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. (11841381)
2002
25
Stable reversal of pathologic signs of primitive intestinal lymphangiectasia with a hypolipidic, MCT-enriched diet. (10758368)
2000
26
Ultrasonographic features of long-standing primary intestinal lymphangiectasia. (9700215)
1998
27
Intestinal lymphangiectasia. (9770894)
1998
28
Octreotide in the treatment of intestinal lymphangiectasia. (9744700)
1998
29
Intestinal lymphangiectasia due to recurrent giardiasis. (8607534)
1996
30
Intestinal lymphangiectasia. (9057388)
1996
31
Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. (8691257)
1996
32
Endoscopic features of long-standing primary intestinal lymphangiectasia. (7615236)
1995
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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Biological processes related to Intestinal Lymphangiectasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor productionGO:00105759.6CCBE1, FLT4
2embryonic heart tube developmentGO:00350509.5FOXC2, SOX18
3kidney developmentGO:00018229.4FAT4, FOXC2
4heart developmentGO:00075079.3FOXC2, SOX18
5lymph vessel developmentGO:00019458.6FLT4, FOXC2, SOX18

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.3FOXC2, SOX18

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