MCID: INT191
MIFTS: 37

Intestinal Lymphangiectasia malady

Cardiovascular diseases, Gastrointestinal diseases, Immune diseases categories

Summaries for Intestinal Lymphangiectasia

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46OMIM, 32MalaCards
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MalaCards: Intestinal Lymphangiectasia, also known as lymphangiectasis, intestinal, is related to yellow nail syndrome and lymphedema, and has symptoms including agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency, anomalies of the lymphatic system and neoplasms/tumors. 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 and b cells, and related mouse phenotypes are cardiovascular system and normal.

Description from OMIM:46 152800

Aliases & Classifications for Intestinal Lymphangiectasia

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Sources:
48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
intestinal lymphangiectasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

intestinal lymphangiectasia 48 46
lymphangiectasis, intestinal 60


External Ids:

OMIM46 152800
MESH via Orphanet35 D008201
ICD10 via Orphanet26 I89.0
SNOMED-CT via Orphanet57 197260007
UMLS via Orphanet61 C0024215

Related Diseases for Intestinal Lymphangiectasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Primary Intestinal Lymphangiectasia family:

intestinal lymphangiectasia

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1yellow nail syndrome30.4SOX18
2lymphedema30.4LYVE1, RELN, FLT4, FOXC2, SOX18
3pancreatitis30.0ALB
4lymphangioma30.0LYVE1, FLT4
5protein-losing enteropathy10.7
6intestinal disease10.6
7aplasia cutis congenita intestinal lymphangiectasia10.5
8primary intestinal lymphangiectasia10.4
9nephrotic syndrome10.3
10noonan syndrome10.2
11hypoparathyroidism10.2
12systemic lupus erythematosus10.2
13lymphangitis10.2
14hemolytic-uremic syndrome10.2
15constrictive pericarditis10.2
16diarrhea10.2
17liver cirrhosis10.2
18lupus erythematosus10.2
19pericarditis10.2
20peritonitis10.2
21secondary intestinal lymphangiectasia10.2
22syndromic diarrhea10.0
23neurofibromatosis10.0
24lutembacher's syndrome10.0
25secretory diarrhea10.0
26incontinentia pigmenti achromians10.0
27wiskott-aldrich syndrome10.0
28macroglobulinemia10.0
29peliosis hepatis10.0
30polydactyly10.0
31zellweger syndrome10.0
32chordoid meningioma10.0
33amebiasis10.0
34giardiasis10.0
35appendicitis10.0
36steatorrhea10.0
37herpes zoster10.0
38duodenitis10.0
39intestinal tuberculosis10.0
40diffuse large b-cell lymphoma10.0
41small intestine lymphoma10.0
42hepatitis a10.0
43adenocarcinoma10.0
44alopecia10.0
45cerebellar disease10.0
46gastritis10.0
47hepatitis10.0
48histiocytosis10.0
49meningioma10.0
50multiple myeloma10.0

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



Diseases related to intestinal lymphangiectasia

Clinical Features for Intestinal Lymphangiectasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

152800

Clinical synopsis from OMIM:

152800

Symptoms:

48 (show all 18)
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • anomalies of the lymphatic system
  • neoplasms/tumors
  • lymphopenia
  • hypocalcemia
  • edema of the legs/lower limbs
  • severe allergic reaction/atopy
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay

Drugs & Therapeutics for Intestinal Lymphangiectasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Intestinal Lymphangiectasia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Intestinal Lymphangiectasia:

32
Skin, B cells

Animal Models for Intestinal Lymphangiectasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Intestinal Lymphangiectasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.0SOX18, FLT4, LYVE1
2MP:00028738.4ALB, SOX18, FLT4, FOXC2
3MP:00053818.1FLT4, FOXC2, ALB, RELN
4MP:00107687.3SOX18, FOXC2, FLT4, RELN, ALB

Publications for Intestinal Lymphangiectasia

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Genetic Variations for Intestinal Lymphangiectasia

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Expression for genes affiliated with Intestinal Lymphangiectasia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Intestinal Lymphangiectasia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Intestinal Lymphangiectasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valproic acid44 49 11 2412.0ALB, RELN

GO Terms for genes affiliated with Intestinal Lymphangiectasia

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Sources:
16Gene Ontology
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Biological processes related to Intestinal Lymphangiectasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube developmentGO:0350509.7SOX18, FOXC2
2vascular endothelial growth factor receptor signaling pathwayGO:0480109.6FOXC2, FLT4
3vasculature developmentGO:0019449.5FLT4, SOX18
4positive regulation of endothelial cell migrationGO:0105959.4FOXC2, FLT4
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Intestinal Lymphangiectasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet