Lymphangiectasia, Intestinal malady

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

Aliases & Classifications for Lymphangiectasia, Intestinal

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50OMIM, 46NIH Rare Diseases, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
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Aliases & Descriptions for Lymphangiectasia, Intestinal:

Name: Lymphangiectasia, Intestinal 50
Intestinal Lymphangiectasia 46 25
Primary Intestinal Lymphangiectasia 52
Lymphangiectasis, Intestinal 66
Waldmann Disease 52


Orphanet epidemiological data:

primary intestinal lymphangiectasia:
Age of onset: All ages; Age of death: any age


lymphangiectasia, intestinal:
Inheritance: autosomal dominant inheritance
Mortality/Aging: stillbirth


External Ids:

OMIM50 152800
Orphanet52 ORPHA90362
ICD10 via Orphanet29 I89.0
MESH via Orphanet38 C536567
UMLS via Orphanet67 C0267372, C2931241

Summaries for Lymphangiectasia, Intestinal

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NIH Rare Diseases:46 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: Lymphangiectasia, Intestinal, also known as intestinal lymphangiectasia, is related to primary intestinal lymphangiectasia and lymphoma, and has symptoms including lymphopenia, hypoproteinemia and decreased antibody level in blood. Affiliated tissues include small intestine, skin and b cells.

Description from OMIM:50 152800

Related Diseases for Lymphangiectasia, Intestinal

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Diseases in the Lymphangiectasia, Intestinal family:

Primary Intestinal Lymphangiectasia Secondary Intestinal Lymphangiectasia

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

idRelated DiseaseScoreTop Affiliating Genes
1primary intestinal lymphangiectasia12.5
3b-cell lymphomas10.0
4hennekam syndrome9.8
5protein-losing enteropathy9.8

Graphical network of diseases related to Lymphangiectasia, Intestinal:

Diseases related to lymphangiectasia, intestinal

Symptoms for Lymphangiectasia, Intestinal

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 52 (show all 30)
  • osteoporosis
  • lymphedema
  • thickened skin
  • seizures
  • meningitis
  • failure to thrive
  • pericardial effusion
  • hydrops fetalis
  • weight loss
  • lymphopenia
  • iron deficiency anemia
  • diarrhea
  • nausea and vomiting
  • malabsorption
  • abdominal pain
  • pleural effusion
  • ileus
  • immunodeficiency
  • hypocalcemia
  • hypoalbuminemia
  • hypoproteinemia
  • hypogammaglobulinemia
  • edema of the lower limbs
  • b-cell lymphoma
  • chylous ascites
  • fatigue
  • vaginal lymphocele
  • gangrene
  • abnormality of the lymphatic system
  • verrucae

HPO human phenotypes related to Lymphangiectasia, Intestinal:

(show all 41)
id Description Frequency HPO Source Accession
1 lymphopenia hallmark (90%) HP:0001888
2 hypoproteinemia hallmark (90%) HP:0003075
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 malabsorption hallmark (90%) HP:0002024
7 weight loss typical (50%) HP:0001824
8 nausea and vomiting typical (50%) HP:0002017
9 malabsorption typical (50%) HP:0002024
10 abdominal pain typical (50%) HP:0002027
11 abnormality of the ribs typical (50%) HP:0000772
12 hypocalcemia typical (50%) HP:0002901
13 abnormal blistering of the skin typical (50%) HP:0008066
14 immunologic hypersensitivity typical (50%) HP:0100326
15 skin ulcer typical (50%) HP:0200042
16 thickened skin occasional (7.5%) HP:0001072
17 seizures occasional (7.5%) HP:0001250
18 meningitis occasional (7.5%) HP:0001287
19 ascites occasional (7.5%) HP:0001541
20 abnormality of the pericardium occasional (7.5%) HP:0001697
21 hydrops fetalis occasional (7.5%) HP:0001789
22 iron deficiency anemia occasional (7.5%) HP:0001891
23 abnormality of the pleura occasional (7.5%) HP:0002103
24 lymphoma occasional (7.5%) HP:0002665
25 hypocalcemia occasional (7.5%) HP:0002901
26 reduced bone mineral density occasional (7.5%) HP:0004349
27 intestinal obstruction occasional (7.5%) HP:0005214
28 vaginal hernia occasional (7.5%) HP:0100672
29 gangrene occasional (7.5%) HP:0100758
30 verrucae occasional (7.5%) HP:0200043
31 visual impairment occasional (7.5%) HP:0000505
32 neoplasm occasional (7.5%) HP:0002664
33 osteomyelitis occasional (7.5%) HP:0002754
34 abnormality of the hair HP:0001595
35 lymphopenia HP:0001888
36 malabsorption HP:0002024
37 intestinal lymphangiectasia HP:0002593
38 igg deficiency HP:0004315
39 prominent floating ribs HP:0006641
40 neonatal hypoproteinemia HP:0008360
41 edema of the lower limbs HP:0010741

UMLS symptoms related to Lymphangiectasia, Intestinal:

sucrose intolerance, pain of lymph node

Drugs & Therapeutics for Lymphangiectasia, Intestinal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lymphangiectasia, Intestinal

Genetic Tests for Lymphangiectasia, Intestinal

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Genetic tests related to Lymphangiectasia, Intestinal:

id Genetic test Affiliating Genes
1 Intestinal Lymphangiectasia25

Anatomical Context for Lymphangiectasia, Intestinal

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MalaCards organs/tissues related to Lymphangiectasia, Intestinal:

Small intestine, Skin, B cells, Bone, Lymph node

Animal Models for Lymphangiectasia, Intestinal or affiliated genes

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Publications for Lymphangiectasia, Intestinal

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Variations for Lymphangiectasia, Intestinal

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Expression for genes affiliated with Lymphangiectasia, Intestinal

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Search GEO for disease gene expression data for Lymphangiectasia, Intestinal.

Pathways for genes affiliated with Lymphangiectasia, Intestinal

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GO Terms for genes affiliated with Lymphangiectasia, Intestinal

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Sources for Lymphangiectasia, Intestinal

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet