MCID: PRM158
MIFTS: 30

Primary Intestinal Lymphangiectasia malady

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

Aliases & Classifications for Primary Intestinal Lymphangiectasia

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Primary Intestinal Lymphangiectasia:

Name: Primary Intestinal Lymphangiectasia 45 51 65
Waldmann Disease 45 51 65
Familial Waldmann's Disease 45 65
 
Primary Intestinal Lymphangiectasis 45
Waldmann's Disease 45

Characteristics:

Orphanet epidemiological data:

51
primary intestinal lymphangiectasia:
Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Orphanet51 90362
ICD10 via Orphanet28 I89.0
MESH via Orphanet37 C536567
UMLS via Orphanet66 C0267372, C2931241
UMLS65 C0267372, C2931242, C2931241

Summaries for Primary Intestinal Lymphangiectasia

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NIH Rare Diseases:45 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. last updated: 10/6/2015

MalaCards based summary: Primary Intestinal Lymphangiectasia, also known as waldmann disease, is related to intestinal lymphangiectasia and lung cancer, and has symptoms including edema of the legs/lower limbs, anomalies of the lymphatic system and agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency. Affiliated tissues include small intestine, skin and b cells.

Wikipedia:68 Waldmann disease, also known as Waldmann\'s disease and Primary intestinal lymphangiectasia, is a rare... more...

Related Diseases for Primary Intestinal Lymphangiectasia

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



Diseases related to primary intestinal lymphangiectasia

Symptoms for Primary Intestinal Lymphangiectasia

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Symptoms:

 51 (show all 28)
  • edema of the legs/lower limbs
  • anomalies of the lymphatic system
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • lymphopenia
  • hypoproteinemia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • warts/papillomas
  • ascitis
  • intestinal obstruction/ileus
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • gangrena/necrosis
  • vaginal hydrocele/hematocele/pyocele/lymphocele/varicocele
  • meningitis/meningeal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • ferropenic anemia
  • hypocalcemia
  • lymphoma
  • hydrops fetalis

Drugs & Therapeutics for Primary Intestinal Lymphangiectasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Primary Intestinal Lymphangiectasia

Genetic Tests for Primary Intestinal Lymphangiectasia

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Anatomical Context for Primary Intestinal Lymphangiectasia

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MalaCards organs/tissues related to Primary Intestinal Lymphangiectasia:

33
Small intestine, Skin, B cells, Thyroid, Lung, Heart, Colon

Animal Models for Primary Intestinal Lymphangiectasia or affiliated genes

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Publications for Primary Intestinal Lymphangiectasia

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Articles related to Primary Intestinal Lymphangiectasia:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Mechanical stimulation enhanced estrogen receptor expression and callus formation in diaphyseal long bone fracture healing in ovariectomy-induced osteoporotic rats. (27155884)
2016
2
Patterns in the incidence, mortality and survival of malignant pleural and peritoneal mesothelioma, New South Wales, 1972-2009. (26713662)
2015
3
Plasmablastic lymphoma is treatable in the HAART era. A 10 year retrospective by the AIDS Malignancy Consortium. (26674561)
2015
4
Hypopigmentation: mycosis fungoides in disguise. (25240006)
2014
5
Thioredoxin-interacting protein gene expression via MondoA is rapidly and transiently suppressed during inflammatory responses. (23520550)
2013
6
Clinicopathologic characteristics of high expression of Bmi-1 in esophageal adenocarcinoma and squamous cell carcinoma. (23078618)
2012
7
Accidental thyrotoxicosis caused by inadvertent ingestion of levothyroxine "dog-tabs" by a veterinarian with hypothyroidism. (22560202)
2012
8
Use of intense pulse light for acne vulgaris in Indian skin--a case series. (22435441)
2012
9
Anti-PM-Scl antibody in patients with systemic sclerosis. (22261302)
2012
10
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. (22958904)
2012
11
Limbic encephalitis in a boy with N-methyl-D-aspartate receptor antibodies. (22336573)
2012
12
Pattern of expression of cell cycle-related proteins in malignant transformation of sinonasal inverted papilloma. (21679505)
2011
13
Increased plasma basic fibroblast growth factor is associated with coronary heart disease in adult type 2 diabetes mellitus. (20206949)
2011
14
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. (20717166)
2011
15
Excess dietary iodine differentially affects thyroid gene expression in diabetes, thyroiditis-prone versus -resistant BioBreeding (BB) rats. (22058052)
2011
16
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
17
Extracellular guanosine and GTP promote expression of differentiation markers and induce S-phase cell-cycle arrest in human SH-SY5Y neuroblastoma cells. (19111604)
2009
18
True precocious puberty with vision loss. (22140410)
2009
19
Hyperphosphatemia in the Calcium Acetate Renagel Evaluation-2 (CARE-2) Study. (18971019)
2008
20
A sweet new role for EGFR in cancer. (18455118)
2008
21
Cell membrane reactivity of MIB-1 antibody to Ki67 in human tumors: fact or artifact? (17525638)
2007
22
Abnormalities of epidermal growth factor receptor in lung squamous-cell carcinomas, adenosquamous carcinomas, and large-cell carcinomas: tyrosine kinase domain mutations are not rare in tumors with an adenocarcinoma component. (17238183)
2007
23
Serum cytokine concentration as prognostic factor in patients with alcoholic liver disease]. (17036498)
2006
24
Expression of mannose-binding lectin in the peritoneal fluid of women with and without endometriosis. (16600231)
2006
25
TNF-alpha in the development of insulin resistance and other disorders in metabolic syndrome. (16170397)
2005
26
Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation. (15640815)
2005
27
Association of HLA Class I and Class II genes with bcr-abl transcripts in leukemia patients with t(9;22) (q34;q11). (15202948)
2004
28
NK cells regulate CD8+ T cell effector function in response to an intracellular pathogen. (14688318)
2004
29
Pioglitazone is effective therapy for elderly patients with type 2 diabetes mellitus. (15012171)
2004
30
Treatment of cervical dystonia by olanzapine. (12766936)
2003
31
Insulin-like growth factor I (IGF-I) and IGF binding protein-1 modulate prostate cancer cell growth and apoptosis: possible mediators for the effects of diet and exercise on cancer cell survival. (12746292)
2003
32
Heparin reduces glomerular infiltration and TGF-beta protein expression by macrophages in puromycin glomerulosclerosis. (12768067)
2003
33
Effects of exogenous vitamin E supplementation on the levels of oxidants and antioxidants in chronic obstructive pulmonary disease. (12682418)
2003
34
Direct interaction of the KrA1ppel-like family (KLF) member, BTEB1, and PR mediates progesterone-responsive gene expression in endometrial epithelial cells. (11751593)
2002
35
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
36
Identification of a fourth subunit of mammalian DNA polymerase delta. (10751307)
2000
37
Linkage exclusion in French families with probable Parkinson' s disease. (11104189)
2000
38
Apoptosis cascade progresses during turnover of human trophoblast: analysis of villous cytotrophoblast and syncytial fragments in vitro. (10616217)
1999
39
Estrogen replacement therapy and cardiovascular protection: lipid mechanisms are the tip of an iceberg. (9526710)
1998
40
Chromosomal localization of the type-I 15-PGDH gene to 4q34-q35. (9048936)
1997
41
Time-course study of 1,25-(OH)2-vitamin D3 induction of homologous receptor and c-myc in nontransformed and transformed C3H/10T1/2 cell clones. (8187933)
1994
42
Epidermal growth factor induces phosphorylation of extracellular signal-regulated kinase 2 via multiple pathways. (8246947)
1993
43
Analysis of carbohydrate residues on human thyroid peroxidase (TPO) and thyroglobulin (Tg) and effects of deglycosylation, reduction and unfolding on autoantibody binding. (1391595)
1992
44
Immunologic factors in habitual abortion]. (1288774)
1992
45
Asthma and chronic obstructive lung disease: a pharmacologic approach. (1989844)
1991
46
Germinoma originating in the basal ganglia. Report of a case showing unusual appearance on MRI. (2287389)
1990
47
Cryosurgery for the urethral syndrome. (6737392)
1984
48
Resection of proximal left main bronchus carcinoma. (515983)
1979
49
Voyeurism and exhibitionism. (4382722)
1967
50
An epidemic of vulvovaginitis among children. [Reprinted from Arch. Pediat., Feb. 1905]. (14791004)
1950

Variations for Primary Intestinal Lymphangiectasia

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Expression for genes affiliated with Primary Intestinal Lymphangiectasia

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

Pathways for genes affiliated with Primary Intestinal Lymphangiectasia

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GO Terms for genes affiliated with Primary Intestinal Lymphangiectasia

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Sources for Primary Intestinal Lymphangiectasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet