MCID: LYM124
MIFTS: 21

Lymphangiectasia, Intestinal malady

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

Aliases & Classifications for Lymphangiectasia, Intestinal

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Sources:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lymphangiectasia, Intestinal:

Name: Lymphangiectasia, Intestinal 52
Primary Intestinal Lymphangiectasia 54 68
Intestinal Lymphangiectasia 48 27
 
Waldmann Disease 54 68
Lymphangiectasis, Intestinal 68

Characteristics:

Orphanet epidemiological data:

54
primary intestinal lymphangiectasia:
Age of onset: All ages; Age of death: any age

HPO:

64
lymphangiectasia, intestinal:
Inheritance: autosomal dominant inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 152800
Orphanet54 ORPHA90362
ICD10 via Orphanet31 I89.0
MESH via Orphanet40 C536567
UMLS via Orphanet69 C0267372, C2931241

Summaries for Lymphangiectasia, Intestinal

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NIH Rare Diseases:48 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 primary intestinal lymphangiectasia, is related to hennekam syndrome and protein-losing enteropathy, and has symptoms including Array, Array and Array. Affiliated tissues include small intestine, skin and b cells.

Description from OMIM:52 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
1hennekam syndrome9.6
2protein-losing enteropathy9.6
3primary intestinal lymphangiectasia9.6

Symptoms & Phenotypes for Lymphangiectasia, Intestinal

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Symptoms by clinical synopsis from OMIM:

152800

Clinical features from OMIM:

152800

Human phenotypes related to Lymphangiectasia, Intestinal:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis54 Occasional (29-5%)
2 lymphedema54 Very frequent (99-80%)
3 thickened skin64 54 Occasional (29-5%) HP:0001072
4 seizures54 Occasional (29-5%)
5 meningitis54 Occasional (29-5%)
6 failure to thrive54 Frequent (79-30%)
7 pericardial effusion54 Occasional (29-5%)
8 hydrops fetalis54 Occasional (29-5%)
9 weight loss54 Frequent (79-30%)
10 lymphopenia64 54 Very frequent (99-80%) HP:0001888
11 iron deficiency anemia54 Occasional (29-5%)
12 diarrhea64 54 Frequent (79-30%) HP:0002014
13 nausea and vomiting54 Frequent (79-30%)
14 malabsorption64 54 Frequent (79-30%) HP:0002024
15 abdominal pain54 Frequent (79-30%)
16 pleural effusion64 54 Occasional (29-5%) HP:0002202
17 ileus54 Occasional (29-5%)
18 immunodeficiency54 Frequent (79-30%)
19 hypocalcemia64 54 Occasional (29-5%) HP:0002901
20 hypoalbuminemia54 Very frequent (99-80%)
21 hypoproteinemia54 Very frequent (99-80%)
22 decreased antibody level in blood64 54 Very frequent (99-80%) HP:0004313
23 edema of the lower limbs64 54 Very frequent (99-80%) HP:0010741
24 b-cell lymphoma54 Occasional (29-5%)
25 chylous ascites54 Occasional (29-5%)
26 fatigue54 Frequent (79-30%)
27 vaginal lymphocele54 Occasional (29-5%)
28 gangrene54 Occasional (29-5%)
29 abnormality of the lymphatic system64 54 Very frequent (99-80%) HP:0100763
30 verrucae54 Occasional (29-5%)
31 abnormality of the hair64 HP:0001595
32 intestinal lymphangiectasia64 HP:0002593
33 igg deficiency64 HP:0004315
34 prominent floating ribs64 HP:0006641
35 neonatal hypoproteinemia64 HP:0008360
36 visual impairment64 HP:0000505
37 growth delay64 HP:0001510
38 ascites64 HP:0001541
39 constrictive pericarditis64 HP:0002563
40 neoplasm64 HP:0002664
41 abnormal blistering of the skin64 HP:0008066
42 immunologic hypersensitivity64 HP:0100326
43 skin ulcer64 HP:0200042

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 Lymphangiectasia27

Anatomical Context for Lymphangiectasia, Intestinal

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MalaCards organs/tissues related to Lymphangiectasia, Intestinal:

36
Small intestine, Skin, B cells

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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet