MCID: INT191
MIFTS: 37

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 aplasia cutis congenita 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 liver, 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 218)
idRelated DiseaseScoreTop Affiliating Genes
1primary intestinal lymphangiectasia12.7
2aplasia cutis congenita intestinal lymphangiectasia12.6
3secondary intestinal lymphangiectasia12.5
4hennekam syndrome10.6
5hennekam lymphangiectasia-lymphedema syndrome 210.4
6hennekam lymphangiectasia-lymphedema syndrome 110.4
7lymphangiectasis10.4
8endotheliitis10.3
9leukemia10.3
10lung cancer10.2
11chronic lymphocytic leukemia10.2
12hepatitis10.2
13lymphoma10.2
14sarcoma10.2
15esophagitis10.2
16prostatitis10.2
17pneumonia10.2
18neuropathy10.2
19spasticity10.2
20uv-sensitive syndrome10.2CCBE1, FAT4
21hiv-110.1
22hepatocellular carcinoma10.1
23chondrosarcoma10.1
24panic disorder10.1
25gastric cancer10.1
26glomerulonephritis10.1
27ulcerative colitis10.1
28colitis10.1
29gestational diabetes10.1
30personality disorder10.1
31corneal dystrophy10.1
32cerebritis10.1
33neuronitis10.1
34influenza10.1
35back pain10.1
36hypoxia10.1
37pheochromocytoma10.0
38rheumatoid arthritis10.0
39myocardial infarction10.0
40hajdu-cheney syndrome10.0
41prune belly syndrome10.0
42prostate cancer10.0
43breast cancer10.0
44coronary artery disease10.0
45bacteremia10.0
46hepatitis c virus10.0
47multiple system atrophy10.0
48glucocorticoid resistance10.0
49supravalvar aortic stenosis10.0
50wolman disease10.0

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, T cells, Endothelial, Lung, 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 259)
idTitleAuthorsYear
1
Mechanical stimulation enhanced estrogen receptor expression and callus formation in diaphyseal long bone fracture healing in ovariectomy-induced osteoporotic rats. (27155884)
2016
2
Quantitative assessment of the association between GAK rs1564282 C/T polymorphism and the risk of Parkinson's disease. (25975492)
2015
3
The marine metabolite SZ-685C induces apoptosis in primary human nonfunctioning pituitary adenoma cells by inhibition of the Akt pathway in vitro. (25806467)
2015
4
Patterns in the incidence, mortality and survival of malignant pleural and peritoneal mesothelioma, New South Wales, 1972-2009. (26713662)
2015
5
In human glioblastomas transcript elongation by alternative polyadenylation and miRNA targeting is a potent mechanism of MGMT silencing. (23340988)
2013
6
Evaluation of speech errors in Putonghua speakers with cleft palate: A critical review of methodology issues. (24093158)
2013
7
Endogenous estrogens lower plasma PCSK9 and LDL cholesterol but not Lp(a) or bile acid synthesis in women. (22207727)
2012
8
Clinicopathologic characteristics of high expression of Bmi-1 in esophageal adenocarcinoma and squamous cell carcinoma. (23078618)
2012
9
The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer. (21559836)
2012
10
Neuromyelitis optica: aquaporin-4 based pathogenesis mechanisms and new therapies. (22713791)
2012
11
Pattern of expression of cell cycle-related proteins in malignant transformation of sinonasal inverted papilloma. (21679505)
2011
12
Increased plasma basic fibroblast growth factor is associated with coronary heart disease in adult type 2 diabetes mellitus. (20206949)
2011
13
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. (20717166)
2011
14
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
15
Serodiagnosis of bovine leptospirosis by IgG-enzyme-linked immunosorbent assay and latex agglutination test. (19680775)
2010
16
Correlates shift work with increased risk of gastrointestinal complaints or frequency of gastritis or peptic ulcer in H. pylori-infected shift workers? (20012444)
2010
17
gp120 modulates the biology of human hepatic stellate cells: a link between HIV infection and liver fibrogenesis. (19736361)
2010
18
Extracellular guanosine and GTP promote expression of differentiation markers and induce S-phase cell-cycle arrest in human SH-SY5Y neuroblastoma cells. (19111604)
2009
19
The membrane expression of Neisseria meningitidis adhesin A (NadA) increases the proimmune effects of MenB OMVs on human macrophages, compared with NadA- OMVs, without further stimulating their proinflammatory activity on circulating monocytes. (19401383)
2009
20
Perinatal changes of plasma resistin concentrations in pregnancies with normal and restricted fetal growth. (17878741)
2008
21
Langerhans cells in porcine skin. (18805593)
2008
22
Stem cell properties and the side population cells as a target for interferon-alpha in adult T-cell leukemia/lymphoma. (17977513)
2007
23
Low levels of miR-92b/96 induce PRMT5 translation and H3R8/H4R3 methylation in mantle cell lymphoma. (17627275)
2007
24
Cell membrane reactivity of MIB-1 antibody to Ki67 in human tumors: fact or artifact? (17525638)
2007
25
Serum cytokine concentration as prognostic factor in patients with alcoholic liver disease]. (17036498)
2006
26
Physiological incompatibilities of porcine hepatocytes for clinical liver support. (17133583)
2006
27
Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS). (15030491)
2004
28
Treatment of cervical dystonia by olanzapine. (12766936)
2003
29
Asialoglycoprotein receptor concentration in tumor-bearing livers and its fate early after their sectorial resection. (14575385)
2003
30
Bcl-2 down-regulation is a novel mechanism of paclitaxel resistance. (12815160)
2003
31
Direct interaction of the KrA1ppel-like family (KLF) member, BTEB1, and PR mediates progesterone-responsive gene expression in endometrial epithelial cells. (11751593)
2002
32
Treatment of hemophilia B in mice with nonautologous somatic gene therapeutics. (11873243)
2002
33
Diffuse pagetoid squamous cell carcinoma of the esophagus combined with choriocarcinoma and mucoepidermoid carcinoma: an autopsy case report. (11940220)
2002
34
Molecular cytogenetics of bone tumors]. (11832051)
2000
35
Expression of a subset of steroid receptor cofactors is associated with progesterone receptor expression in meningiomas. (10999746)
2000
36
Isolation and expression study of a maternally expressed novel Xenopus gene Xem1 encoding a putative evolutionarily conserved membrane protein. (9325189)
1997
37
Chromosomal localization of the type-I 15-PGDH gene to 4q34-q35. (9048936)
1997
38
Two distinct commonly deleted regions on chromosome 13q suggest involvement of BRCA2 and retinoblastoma genes in sporadic breast carcinomas. (8909313)
1996
39
Time-course study of 1,25-(OH)2-vitamin D3 induction of homologous receptor and c-myc in nontransformed and transformed C3H/10T1/2 cell clones. (8187933)
1994
40
Microcytophotometric analysis of human osteoclast metabolism: lack of activity in certain oxidative pathways indicates inability to sustain biosynthesis during resorption. (8157931)
1994
41
Transgenic mouse model of pharmacologic induction of fetal hemoglobin: studies using a new ribonucleotide reductase inhibitor, Didox. (7511330)
1994
42
Characterization of a human locus in transition. (7983046)
1994
43
Dynamics of creatine kinase shuttle enzymes in the human heart. (1909638)
1991
44
Germinoma originating in the basal ganglia. Report of a case showing unusual appearance on MRI. (2287389)
1990
45
Spondylocostal dysostosis: dominant type. (2309760)
1990
46
Tick-borne viral encephalitis in Finland. The clinical features of Kumlinge disease during 1959-1987. (2703799)
1989
47
Is duodenitis related to duodenal ulceration as gastritis is to gastric ulceration? (3686256)
1987
48
The distribution and degradation of albumin in tropical sprue. I. A comparative analysis of albumin turnover data using different mathematical models. (4754331)
1973
49
Miliaria and anhidrosis. I. Experimental production in volunteers. (6062874)
1967
50
An epidemic of vulvovaginitis among children. [Reprinted from Arch. Pediat., Feb. 1905]. (14791004)
1950

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