MCID: LYM124
MIFTS: 25

Lymphangiectasia, Intestinal malady

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

Aliases & Classifications for Lymphangiectasia, Intestinal

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Sources:
26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lymphangiectasia, Intestinal:

Name: Lymphangiectasia, Intestinal 51
Primary Intestinal Lymphangiectasia 53 67
Intestinal Lymphangiectasia 47 26
 
Waldmann Disease 53 67
Lymphangiectasis, Intestinal 67

Characteristics:

Orphanet epidemiological data:

53
primary intestinal lymphangiectasia:
Age of onset: All ages; Age of death: any age

HPO:

63
lymphangiectasia, intestinal:
Inheritance: autosomal dominant inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM51 152800
Orphanet53 ORPHA90362
ICD10 via Orphanet30 I89.0
MESH via Orphanet39 C536567
UMLS via Orphanet68 C0267372, C2931241

Summaries for Lymphangiectasia, Intestinal

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NIH Rare Diseases:47 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 primary intestinal lymphangiectasia and aplasia cutis congenita with intestinal lymphangiectasia, and has symptoms including lymphopenia, hypoproteinemia and decreased antibody level in blood. Affiliated tissues include small intestine, skin and b cells.

Description from OMIM:51 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:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1primary intestinal lymphangiectasia12.2
2aplasia cutis congenita with intestinal lymphangiectasia12.1
3secondary intestinal lymphangiectasia12.1
4hennekam lymphangiectasia-lymphedema syndrome 111.2
5hennekam lymphangiectasia-lymphedema syndrome 210.9
6lymphangiectasis10.9
7protein-losing enteropathy10.3
8lymphoma10.1
9yellow nail syndrome9.9
10lymphedema9.9
11systemic lupus erythematosus9.8
12b-cell lymphomas9.8
13liver cirrhosis9.8
14hypoparathyroidism9.8
15constrictive pericarditis9.8
16hemolytic-uremic syndrome9.8
17diarrhea9.8
18pericarditis9.8
19tuberculosis9.8
20peritonitis9.8
21lupus erythematosus9.8
22lymphangitis9.8
23aplasia cutis congenita9.8
24hemihypertrophy9.8
25neuroblastoma9.7
26multiple myeloma9.7
27neurofibromatosis, type 19.7
28wiskott-aldrich syndrome9.7
29incontinentia pigmenti9.7
30cutis marmorata telangiectatica congenita9.7
31alopecia9.7
32diffuse large b-cell lymphoma9.7
33hepatitis9.7
34waldenstrom macroglobulinemia9.7
35secretory diarrhea9.7
36abdominal tuberculosis9.7
37steatorrhea9.7
38giardiasis9.7
39polydactyly9.7
40lymphangioma9.7
41lutembacher's syndrome9.7
42vaginitis9.7
43adenocarcinoma9.7
44thymoma9.7
45xanthomatosis9.7
46histiocytosis9.7
47gastritis9.7
48pancreatitis9.7
49appendicitis9.7
50chordoid meningioma9.7

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



Diseases related to lymphangiectasia, intestinal

Symptoms 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:

 63 53 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001888
2 hypoproteinemia63 53 hallmark (90%) Very frequent (99-80%) HP:0003075
3 decreased antibody level in blood63 53 hallmark (90%) Very frequent (99-80%) HP:0004313
4 edema of the lower limbs63 53 hallmark (90%) Very frequent (99-80%) HP:0010741
5 abnormality of the lymphatic system63 53 hallmark (90%) Very frequent (99-80%) HP:0100763
6 malabsorption63 53 hallmark (90%) Frequent (79-30%) HP:0002024
7 weight loss63 53 typical (50%) Frequent (79-30%) HP:0001824
8 nausea and vomiting63 53 typical (50%) Frequent (79-30%) HP:0002017
9 abdominal pain63 53 typical (50%) Frequent (79-30%) HP:0002027
10 abnormality of the ribs63 typical (50%) HP:0000772
11 hypocalcemia63 53 typical (50%) Occasional (29-5%) HP:0002901
12 abnormal blistering of the skin63 typical (50%) HP:0008066
13 immunologic hypersensitivity63 typical (50%) HP:0100326
14 skin ulcer63 typical (50%) HP:0200042
15 thickened skin63 53 occasional (7.5%) Occasional (29-5%) HP:0001072
16 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
17 meningitis63 53 occasional (7.5%) Occasional (29-5%) HP:0001287
18 ascites63 occasional (7.5%) HP:0001541
19 abnormality of the pericardium63 occasional (7.5%) HP:0001697
20 hydrops fetalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001789
21 iron deficiency anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001891
22 abnormality of the pleura63 occasional (7.5%) HP:0002103
23 lymphoma63 occasional (7.5%) HP:0002665
24 reduced bone mineral density63 occasional (7.5%) HP:0004349
25 intestinal obstruction63 occasional (7.5%) HP:0005214
26 vaginal hernia63 occasional (7.5%) HP:0100672
27 gangrene63 53 occasional (7.5%) Occasional (29-5%) HP:0100758
28 verrucae63 53 occasional (7.5%) Occasional (29-5%) HP:0200043
29 visual impairment63 occasional (7.5%) HP:0000505
30 neoplasm63 occasional (7.5%) HP:0002664
31 osteomyelitis63 occasional (7.5%) HP:0002754
32 abnormality of the hair63 HP:0001595
33 intestinal lymphangiectasia63 HP:0002593
34 igg deficiency63 HP:0004315
35 prominent floating ribs63 HP:0006641
36 neonatal hypoproteinemia63 HP:0008360
37 osteoporosis53 Occasional (29-5%)
38 lymphedema53 Very frequent (99-80%)
39 failure to thrive53 Frequent (79-30%)
40 pericardial effusion53 Occasional (29-5%)
41 diarrhea53 Frequent (79-30%)
42 pleural effusion53 Occasional (29-5%)
43 ileus53 Occasional (29-5%)
44 immunodeficiency53 Frequent (79-30%)
45 hypoalbuminemia53 Very frequent (99-80%)
46 b-cell lymphoma53 Occasional (29-5%)
47 chylous ascites53 Occasional (29-5%)
48 fatigue53 Frequent (79-30%)
49 vaginal lymphocele53 Occasional (29-5%)

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 Lymphangiectasia26

Anatomical Context for Lymphangiectasia, Intestinal

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MalaCards organs/tissues related to Lymphangiectasia, Intestinal:

35
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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet