MCID: INT191
MIFTS: 43

Intestinal Lymphangiectasia malady

Cardiovascular, Gastrointestinal, Immune categories

Summaries for Intestinal Lymphangiectasia

Sources:
47OMIM, 33MalaCards
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MalaCards: Intestinal Lymphangiectasia, also known as lymphangiectasis, intestinal, is related to yellow nail syndrome and primary intestinal lymphangiectasia, and has symptoms including failure to thrive/difficulties for feeding in infancy/growth delay, malabsorption/chronic diarrhea/steatorrhea and visual loss/blindness/amblyopia. An important gene associated with Intestinal Lymphangiectasia is SOX18 (SRY (sex determining region Y)-box 18). The compound valproic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are cardiovascular system and normal.

Description from OMIM:47 152800

Aliases & Classifications for Intestinal Lymphangiectasia

Sources:
49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Gastrointestinal, Immune


Characteristics (Orphanet epidemiological data):

49
intestinal lymphangiectasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

intestinal lymphangiectasia 49 47
lymphangiectasis, intestinal 61


External Ids:

OMIM47 152800
MESH via Orphanet36 D008201
ICD10 via Orphanet26 I89.0
SNOMED-CT via Orphanet58 197260007
UMLS via Orphanet62 C0024215

Related Diseases for Intestinal Lymphangiectasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to intestinal lymphangiectasia

Clinical Features for Intestinal Lymphangiectasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

152800

Clinical synopsis from OMIM:

152800

Symptoms:

49 (show all 18)
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • malabsorption/chronic diarrhea/steatorrhea
  • visual loss/blindness/amblyopia
  • ascitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • anomalies of the ribs
  • thick skin/pachydermia/orange skin
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • anomalies of the lymphatic system
  • neoplasms/tumors
  • lymphopenia
  • hypocalcemia
  • edema of the legs/lower limbs
  • severe allergic reaction/atopy

Drugs & Therapeutics for Intestinal Lymphangiectasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Intestinal Lymphangiectasia

Drug clinical trials:

Search ClinicalTrials for Intestinal Lymphangiectasia

Search NIH Clinical Center for Intestinal Lymphangiectasia

Search CenterWatch for Intestinal Lymphangiectasia

Genetic Tests for Intestinal Lymphangiectasia

Anatomical Context for Intestinal Lymphangiectasia

Sources:
33MalaCards
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MalaCards organs/tissues related to Intestinal Lymphangiectasia:

33
Skin, Liver, Brain, Kidney, Lymph node, Bone marrow, Heart, Small intestine, Colon, Breast, T cells, B cells, Endothelial

Animal Models for Intestinal Lymphangiectasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Intestinal Lymphangiectasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.0LYVE1, FLT4, SOX18
2MP:00028738.4SOX18, FOXC2, FLT4, ALB
3MP:00053818.1ALB, RELN, FLT4, FOXC2
4MP:00107687.3SOX18, FOXC2, FLT4, RELN, ALB

Publications for Intestinal Lymphangiectasia

Sources:
51PubMed
See all sources

Articles related to Intestinal Lymphangiectasia:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Duodenal endoscopic findings and histopathologic confirmation of intestinal lymphangiectasia in dogs. (22827501)
2012
2
A rare cause of severe hypoalbuminemia in a patient with primary hypoparathyroidism: intestinal lymphangiectasia. (21837942)
2011
3
Intestinal lymphangiectasia: an undescribed cause of malabsorption and incomplete immunological recovery in HIV-infected patients. (21353343)
2011
4
Intestinal lymphangiectasia presenting with duodeno-jejunal polyposis: enteroscopic findings. (21086252)
2010
5
Intestinal lymphangiectasia causing massive gastrointestinal bleed. (19661816)
2010
6
Medical image. Recurrent muscle cramps in chronic diarrhoea. Primary intestinal lymphangiectasia. (19966872)
2009
7
Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. (18431016)
2007
8
Recurrent hemolytic uremic syndrome associated with intestinal lymphangiectasia. (17514630)
2007
9
Videocapsule endoscopy is useful for the diagnosis of intestinal lymphangiectasia. (16527553)
2006
10
High-resolution magnifying video endoscopy in primary intestinal lymphangiectasia: a new role for endoscopy? (15933946)
2005
11
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. (15578573)
2005
12
Primary intestinal lymphangiectasia: a response to medium-chain triglyceride formula. (16188830)
2005
13
Case study in canine intestinal lymphangiectasia. (16422069)
2005
14
Congenital intestinal lymphangiectasia: CT demonstration in a young child. (12932684)
2003
15
Operative ascitic drainage in a patient with primary intestinal lymphangiectasia. (12648135)
2003
16
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. (12124738)
2002
17
Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. (11841381)
2002
18
A case of protein-losing enteropathy caused by intestinal lymphangiectasia in a preterm infant. (11158480)
2001
19
Primary intestinal lymphangiectasia successfully treated with octreotide. (11227670)
2001
20
Primary intestinal lymphangiectasia, nephrotic syndrome and clomid-induced triplet pregnancy. (19861780)
2001
21
Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. (10896925)
2000
22
Octreotide in the treatment of intestinal lymphangiectasia. (9744700)
1998
23
Recurrent hemolytic uremic syndrome with hypocomplementemia and intestinal lymphangiectasia. (9274848)
1997
24
Intestinal lymphangiectasia. (9057388)
1996
25
Intestinal leakage of technetium-99m-MDP in primary intestinal lymphangiectasia. (8691257)
1996
26
Acute jejunal ileus in intestinal lymphangiectasia. (8374252)
1993
27
Intestinal lymphangiectasia associated with angiofollicular lymph node hyperplasia (Castleman's disease). (1740268)
1992
28
The distribution of lymphocyte subpopulations in an infant with primary intestinal lymphangiectasia. (1304188)
1992
29
Intestinal lymphangiectasia: lack of efficacy of antiplasmin therapy? (2001819)
1991
30
Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia. (2220736)
1990
31
Intestinal lymphangiectasia with protein losing enteropathy, toxic copper accumulation and hypoparathyroidism. (2344321)
1990
32
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. (2624276)
1989
33
Pleurectomy for chylothorax associated with intestinal lymphangiectasia. (3424279)
1987
34
Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy. (3608736)
1987
35
Failure of blind small bowel biopsy in the diagnosis of intestinal lymphangiectasia. (3694377)
1987
36
Endoscopic diagnosis of primary intestinal lymphangiectasia using a high-fat meal. (3720681)
1986
37
Impaired neutrophil function in intestinal lymphangiectasia. (3745479)
1986
38
Intestinal lymphangiectasia in an adolescent. A case study of edema. (3721949)
1986
39
Vitamin E-deficient spinocerebellar syndrome due to intestinal lymphangiectasia. (3960333)
1986
40
Primary intestinal lymphangiectasia: clinical and CT findings. (4019833)
1985
41
Intestinal lymphangiectasia in the Lundehund. Scanning electron microscopy of intestinal mucosa. (6507100)
1984
42
Lymphoscintigraphic demonstration of intestinal lymphangiectasia. (6653008)
1983
43
Endoscopic and histopathological study on primary and secondary intestinal lymphangiectasia. (7238258)
1981
44
Synopsis of endoscopic and other morphological findings in intestinal lymphangiectasia. (7227329)
1981
45
Intestinal lymphangiectasia in a dog. (872030)
1977
46
Primary intestinal lymphangiectasia: surgical implications. (5026674)
1972
47
Hypo-beta-lipoproteinemia and intestinal lymphangiectasia. A new syndrome of malabsorption and protein-losing enteropathy. (5659374)
1968
48
Hypoproteinemia in intestinal lymphangiectasia. Contribution of albumin "trapping" in the lymphedematous extremity. (6036184)
1967
49
Intestinal lymphangiectasia in liver cirrhosis. (5598103)
1967
50
Intestinal lymphangiectasia. (6059631)
1967

Genetic Variations for Intestinal Lymphangiectasia

Expression for genes affiliated with Intestinal Lymphangiectasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Intestinal Lymphangiectasia

Search GEO for disease gene expression data for Intestinal Lymphangiectasia.

Pathways for genes affiliated with Intestinal Lymphangiectasia

Compounds for genes affiliated with Intestinal Lymphangiectasia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Intestinal Lymphangiectasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valproic acid45 50 11 2412.0ALB, RELN

GO Terms for genes affiliated with Intestinal Lymphangiectasia

Sources:
16Gene Ontology
See all sources

Biological processes related to Intestinal Lymphangiectasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube developmentGO:0350509.7FOXC2, SOX18
2vascular endothelial growth factor receptor signaling pathwayGO:0480109.6FLT4, FOXC2
3vasculature developmentGO:0019449.5SOX18, FLT4
4positive regulation of endothelial cell migrationGO:0105959.4FLT4, FOXC2
5lymphangiogenesisGO:0019469.2FLT4, FOXC2, SOX18
6negative regulation of apoptotic processGO:0430668.9ALB, FLT4, FOXC2
7peptidyl-tyrosine phosphorylationGO:0181088.8RELN, FLT4

Molecular functions related to Intestinal Lymphangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.6FOXC2, SOX18

Products for genes affiliated with Intestinal Lymphangiectasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Intestinal Lymphangiectasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet