MCID: PRM158
MIFTS: 29

Primary Intestinal Lymphangiectasia

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

Aliases & Classifications for Primary Intestinal Lymphangiectasia

MalaCards integrated aliases for Primary Intestinal Lymphangiectasia:

Name: Primary Intestinal Lymphangiectasia 20 70
Familial Waldmann's Disease 20 70
Waldmann Disease 20 70
Primary Intestinal Lymphangiectasis 20
Waldmann's Disease 20

Classifications:



Summaries for Primary Intestinal Lymphangiectasia

GARD : 20 Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency. Treatment involves a special long-term diet.

MalaCards based summary : Primary Intestinal Lymphangiectasia, also known as familial waldmann's disease, is related to lymphangiectasia, intestinal and complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy. An important gene associated with Primary Intestinal Lymphangiectasia is CD55 (CD55 Molecule (Cromer Blood Group)). Affiliated tissues include small intestine, colon and pancreas, and related phenotypes are lymphedema and lymphopenia

Wikipedia : 73 Waldmann disease is a rare disease characterized by enlargement of the lymph vessels supplying the... more...

Related Diseases for Primary Intestinal Lymphangiectasia

Diseases in the Lymphangiectasia, Intestinal family:

Primary Intestinal Lymphangiectasia Secondary Intestinal Lymphangiectasia

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 lymphangiectasia, intestinal 11.6
2 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 11.3
3 lymphangiectasis 11.0
4 protein-losing enteropathy 10.7
5 lymphopenia 10.6
6 agammaglobulinemia 10.6
7 hereditary lymphedema i 10.5
8 diarrhea 10.5
9 ascites, chylous 10.3
10 b-cell lymphoma 10.3
11 tuberous sclerosis 1 10.2
12 tuberous sclerosis 10.2
13 pericarditis 10.2
14 osteomalacia 10.2
15 immune deficiency disease 10.1
16 constrictive pericarditis 10.1
17 hemopericardium 10.1
18 pericardial effusion 10.1
19 nephrotic syndrome 10.1
20 lymphangioma 10.1
21 rare lymphatic malformation 10.1
22 osteoporosis 10.0
23 bone mineral density quantitative trait locus 3 10.0
24 bone mineral density quantitative trait locus 8 10.0
25 bone mineral density quantitative trait locus 15 10.0
26 hypophosphatemia 10.0
27 cholelithiasis 10.0
28 rickets 10.0
29 hemolytic-uremic syndrome 10.0
30 ileus 10.0
31 placenta praevia 10.0
32 fibrosis of extraocular muscles, congenital, 1 10.0
33 intussusception 10.0
34 sarcoidosis 1 10.0
35 scleroderma, familial progressive 10.0
36 australia antigen 10.0
37 celiac disease 1 10.0
38 budd-chiari syndrome 10.0
39 lymphangioleiomyomatosis 10.0
40 mycobacterium tuberculosis 1 10.0
41 deficiency anemia 10.0
42 diffuse large b-cell lymphoma 10.0
43 follicular lymphoma 10.0
44 filariasis 10.0
45 protein-energy malnutrition 10.0
46 secondary hyperparathyroidism 10.0
47 intestinal tuberculosis 10.0
48 hyperparathyroidism 10.0
49 squamous cell papilloma 10.0
50 heart septal defect 10.0

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



Diseases related to Primary Intestinal Lymphangiectasia

Symptoms & Phenotypes for Primary Intestinal Lymphangiectasia

Human phenotypes related to Primary Intestinal Lymphangiectasia:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 lymphedema 31 hallmark (90%) HP:0001004
2 lymphopenia 31 hallmark (90%) HP:0001888
3 abnormality of the lymphatic system 31 hallmark (90%) HP:0100763
4 hypoalbuminemia 31 hallmark (90%) HP:0003073
5 pedal edema 31 hallmark (90%) HP:0010741
6 hypoproteinemia 31 hallmark (90%) HP:0003075
7 decreased circulating antibody level 31 hallmark (90%) HP:0004313
8 failure to thrive 31 frequent (33%) HP:0001508
9 nausea and vomiting 31 frequent (33%) HP:0002017
10 malabsorption 31 frequent (33%) HP:0002024
11 fatigue 31 frequent (33%) HP:0012378
12 immunodeficiency 31 frequent (33%) HP:0002721
13 abdominal pain 31 frequent (33%) HP:0002027
14 weight loss 31 frequent (33%) HP:0001824
15 diarrhea 31 frequent (33%) HP:0002014
16 hydrops fetalis 31 occasional (7.5%) HP:0001789
17 osteoporosis 31 occasional (7.5%) HP:0000939
18 hypocalcemia 31 occasional (7.5%) HP:0002901
19 meningitis 31 occasional (7.5%) HP:0001287
20 gangrene 31 occasional (7.5%) HP:0100758
21 thickened skin 31 occasional (7.5%) HP:0001072
22 verrucae 31 occasional (7.5%) HP:0200043
23 pleural effusion 31 occasional (7.5%) HP:0002202
24 pericardial effusion 31 occasional (7.5%) HP:0001698
25 b-cell lymphoma 31 occasional (7.5%) HP:0012191
26 ileus 31 occasional (7.5%) HP:0002595
27 iron deficiency anemia 31 occasional (7.5%) HP:0001891
28 chylous ascites 31 occasional (7.5%) HP:0012281
29 vaginal lymphocele 31 occasional (7.5%) HP:0100676
30 seizure 31 occasional (7.5%) HP:0001250

Drugs & Therapeutics for Primary Intestinal Lymphangiectasia

Search Clinical Trials , NIH Clinical Center for Primary Intestinal Lymphangiectasia

Genetic Tests for Primary Intestinal Lymphangiectasia

Anatomical Context for Primary Intestinal Lymphangiectasia

MalaCards organs/tissues related to Primary Intestinal Lymphangiectasia:

40
Small Intestine, Colon, Pancreas

Publications for Primary Intestinal Lymphangiectasia

Articles related to Primary Intestinal Lymphangiectasia:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Long-term endoscopic findings in pediatric primary intestinal lymphangiectasia. 61
33598292 2021
2
Individual approach for treatment of primary intestinal lymphangiectasia in children: single-center experience and review of the literature. 61
33407260 2021
3
Primary Intestinal Lymphangiectasia: Diagnostic Accuracy of 99mTc-Labeled Human Serum Albumin Nanocolloid SPECT/CT Before Biopsy. 61
33031249 2021
4
Primary intestinal lymphangiectasia in an adult patient: A case report and review of literature. 61
33505146 2020
5
Chronic diarrhea with white colon: primary intestinal lymphangiectasia. 61
32330275 2020
6
A case of Heck's disease with primary intestinal lymphangiectasia treated with imiquimod. 61
32830787 2020
7
Primary intestinal lymphangiectasia in children: A review. 61
32463559 2020
8
Primary intestinal lymphangiectasia diagnosed by video capsule endoscopy in a patient with immunodeficiency presenting with Morganella morganii bacteraemia. 61
32928820 2020
9
Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report. 61
32518792 2020
10
Protein-losing enteropathy and primary intestinal lymphangiectasia. 61
31309229 2020
11
First Report of Treatment with Pancreas-Sparing Duodenectomy in a Child with Primary Intestinal Lymphangiectasia. 61
32139990 2020
12
Primary Intestinal Lymphangiectasia (Waldmann's Disease) A Rare Case of Protein Losing Enteropathy. 61
31979845 2020
13
[Primary intestinal lymphangiectasia: Could propranolol be an effective alternative treatment?] 61
30482704 2019
14
Primary Intestinal Lymphangiectasia Causing Intussusception and Small Bowel Obstruction. 61
31832461 2019
15
Primary intestinal lymphangiectasia in a 23-month- old girl. 61
31333853 2019
16
Comparative pathophysiology and management of protein-losing enteropathy. 61
30762910 2019
17
CT Lymphangiography (CTL) in Primary Intestinal Lymphangiectasia (PIL): A Comparative Study with Intraoperative Enteroscopy (IOE). 61
29885759 2019
18
Primary Intestinal Lymphangiectasia (Waldmann's Disease). 61
30410036 2019
19
Pediatric localized intestinal lymphangiectasia treated with resection. 61
30804688 2019
20
Novel Magnified Single-Balloon Enteroscopy Enables Observation of Jejunal White Spots Associated with Lymphangiectasia. 61
30466073 2019
21
[Primary intestinal lymphangiectasia: first case report in Peru]. 61
31042241 2019
22
CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease. 61
30565236 2019
23
Clinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia. 61
31030202 2019
24
Primary intestinal lymphangiectasia and a review of the current literature. 61
30381277 2018
25
Milky Mesentery: Acute Abdomen with Chylous Ascites. 61
30426960 2018
26
[Primary intestinal lymphangiectasia (Waldmann's disease)]. 61
28867533 2018
27
Case report of primary intestinal lymphangiectasia diagnosed in an octogenarian by ileal intubation and by push enteroscopy after missed diagnosis by standard colonoscopy and EGD. 61
29505002 2018
28
[Clinical analysis of intestinal lymphangiectasia in 47 children]. 61
29262475 2017
29
Nutritional therapy and effect assessment of infants with primary intestinal lymphangiectasia: Case reports. 61
29390480 2017
30
Primary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography. 61
28345300 2017
31
[Primary intestinal lymphangiectasia associated with follicular lymphoma: one case report]. 61
29166747 2017
32
Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex. 61
28614114 2017
33
Cutaneous lymphangiectasia in a patient with primary intestinal lymphangiectasia. 61
28762470 2017
34
Exacerbation of primary intestinal lymphangiectasia during late pregnancy and recovery after delivery: A case report and literature review. 61
28858117 2017
35
Primary Intestinal Lymphangiectasia (Waldmann's Disease) Presenting with Chylous Effusions in a 15-Year-Old. 61
28969188 2017
36
Primary intestinal lymphangiectasia in an elderly female patient: A case report on a rare cause of secondary immunodeficiency. 61
28767614 2017
37
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. 61
28657829 2017
38
Video Capsule Endoscopy to Diagnose Primary Intestinal Lymphangiectasia in a 14-Month-Old Child. 61
28333772 2017
39
Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient. 61
28376626 2017
40
Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect. 61
28571224 2017
41
Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities. 61
28712180 2017
42
A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation. 61
28491220 2017
43
Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. 61
26908672 2016
44
Primary Intestinal Lymphangiectasia Manifested as Unusual Edemas and Effusions: A Case Report. 61
26962779 2016
45
Secondary hypogammaglobulinemia in Waldmann's disease treated with subcutaneous immunoglobulins. 61
26934740 2016
46
Severe Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report. 61
26405709 2015
47
Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC). 61
25943403 2015
48
Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum. 61
26211692 2015
49
Surgical therapy of primary intestinal lymphangiectasia in adults. 61
26169531 2015
50
Primary intestinal lymphangiectasia with generalized warts. 61
26217101 2015

Variations for Primary Intestinal Lymphangiectasia

Expression for Primary Intestinal Lymphangiectasia

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

Pathways for Primary Intestinal Lymphangiectasia

GO Terms for Primary Intestinal Lymphangiectasia

Sources for Primary Intestinal Lymphangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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