MCID: LYM007
MIFTS: 65

Lymphangioleiomyomatosis malady

Genetic diseases, Rare diseases, Respiratory diseases, Immune diseases categories

Aliases & Classifications for Lymphangioleiomyomatosis

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 46 8 9 42 21 10 44 48 61
Lymphangiomyomatosis 8 21 44
Lam 42 21 48
Pulmonary Lymphangioleiomyomatosis 8 61
 
Lymphangio-Myomatosis 42 22
Lymphangioleiomyomatosis, Somatic 46
Lung Lymphangioleiomyomatosis 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
lymphangioleiomyomatosis:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Worldwide),<1/1000000 (United States),1-9/1000000 (United States),<1/1000000 (France),1-9/1000000 (Germany),1-9/1000000 (Canada),1-9/1000000 (United Kingdom),1-9/1000000 (Switzerland),1-9/1000000 (New Zealand),1-9/1000000 (Australia),1-9/1000000 (Europe); Age of onset: Adult


External Ids:

OMIM46 606690
Disease Ontology8 DOID:3319
MeSH33 D018192
NCIt39 C38153
SNOMED-CT56 277844007
Orphanet48 538
MESH via Orphanet34 D018192
ICD10 via Orphanet26 J98.4
UMLS via Orphanet62 C0751674

Summaries for Lymphangioleiomyomatosis

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NIH Rare Diseases:42 Lymphangioleiomyomatosis (lim-fan-je-o-li-o-mi-o-ma-to-sis), or lam, is a rare lung disease that mostly affects women in their mid-forties. in lam, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. over time, these lam cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. they also destroy the normal lung tissue and replace it with cysts. as a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body’s other organs. more than 1 out of every 3 people with lam also develops growths called angiomyolipomas, or amls, in their kidneys. people with lam also may develop:growths in other organs, including the liver and brain large tumors on their lymph nodes there are two forms of lam:sporadic lam, which occurs for unknown reasons lam that occurs in people with a rare inherited disease called tuberous sclerosis complex. this is often a milder form. last updated: 7/16/2013

MalaCards based summary: Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis and perivascular epithelioid cell tumor, and has symptoms including restrictive lung disease, respiratory insufficiency and pulmonary infiltrates. An important gene associated with Lymphangioleiomyomatosis is TSC2 (tuberous sclerosis 2), and among its related pathways are FSH signaling pathway and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The compounds phxa 85 and ici 164384 have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related mouse phenotypes are integument and respiratory system.

Genetics Home Reference:21 Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.

Wikipedia:64 Lymphangioleiomyomatosis (LAM) is a rare lung disease that results in a proliferation of disorderly... more...

Description from OMIM:46 606690

Related Diseases for Lymphangioleiomyomatosis

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Diseases in the Lymphangioleiomyomatosis family:

Tsc1-Related Lymphangioleiomyomatosis

Diseases related to Lymphangioleiomyomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.3MTOR, CCL26, TSC1, TSC2
2perivascular epithelioid cell tumor31.2TSC2
3tuberous sclerosis-130.5TSC2, TSC1
4leiomyoma30.5PGR, DES, TSC2, ESR1
5endometrial stromal sarcoma30.3ESR1, DES, PGR
6angiomyolipoma30.3PGR, ESR1, TSC2, TSC1, DES, MTOR
7polycystic kidney disease30.3TSC2, MTOR
8leiomyomatosis30.2PGR, ESR1
9leiomyosarcoma30.1DES, PGR
10smooth muscle tumor30.1DES, PGR, ESR1
11papillary carcinoma30.0PGR, ESR1, VEGFC
12sarcoma29.9IGF1R, DES, MTOR
13melanoma28.8MMP1, TSC2, DES, IGF1R, VEGFC, MMP2
14pneumothorax10.5
15cerebral meningioma10.5PGR
16alexander disease10.5DES
17cystadenoma10.5VEGFC
18spontaneous pneumothorax10.4
19fibromatosis10.4DES, PGR
20west syndrome10.4TSC2, TSC1
21cowden disease10.4TSC1, TSC2
22spindle cell carcinoma10.4PGR, DES
23fibroma10.4TSC1, DES
24sertoli cell tumor10.4PGR, DES
25ganglioglioma10.4TSC1, TSC2
26sex cord-gonadal stromal tumor10.3PGR, DES
27malignant mixed mullerian tumor10.3DES, PGR
28tongue cancer10.3VEGFC, MMP2
29endotheliitis10.3
30fibromatosis, gingival10.3MMP1, MMP2
31thoracic aortic aneurysm10.3MMP2, MMP1
32endosalpingiosis10.3
33chylous ascites10.3
34peripheral primitive neuroectodermal tumor10.3IGF1R
35neurofibromatosis10.3TSC2, TSC1
36conjunctivochalasis10.3MMP1, MMP2
37meningioma, familial10.3ESR1, PGR
38cribriform carcinoma10.3PGR, ESR1
39uterine sarcoma10.3ESR1, DES
40progesterone resistance10.2ESR1, PGR
41mammary paget's disease10.2ESR1, PGR
42bilateral breast cancer10.2ESR1, PGR
43kidney angiomyolipoma10.2TSC1, MTOR, TSC2
44breast fibroadenoma10.2PGR, ESR1
45subependymal giant cell astrocytoma10.2MTOR, TSC1, TSC2
46breast disease10.2PGR, ESR1
47peutz-jeghers syndrome10.2MTOR, TSC2, TSC1
48pulmonary function10.2
49myoma10.2ESR1, PGR
50polycystic kidney disease, autosomal dominant10.2MTOR, TSC2, TSC1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to lymphangioleiomyomatosis

Symptoms for Lymphangioleiomyomatosis

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Clinical features from OMIM:

606690

Symptoms:

 48 (show all 36)
  • lung/pulmonary infiltrates
  • thoracic/chest pain
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • anomalies of the lymphatic system
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • ungual/paraungual fibromas (fingernails)
  • acute abdominal pain/colic
  • emphysema
  • atelectasia/pulmonary collapse
  • lymphadenopathy/polyadenopathies
  • multicystic kidney/renal dysplasia
  • hematuria/microhematuria
  • uterine/uterus/fallopian tubes anomalies
  • retinal hamartoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anomalies of eyelids, eyelashes and lacrimal system
  • shagreen patch
  • macules
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • ascitis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • hemoptysis
  • repeat respiratory infections
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • lymphedema
  • polycystic kidneys
  • abnormal colour of the urine/cholic/dark urines
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • fever/chilling
  • asthenia/fatigue/weakness

HPO human phenotypes related to Lymphangioleiomyomatosis:

(show all 29)
id Description Frequency HPO Source Accession
1 restrictive lung disease hallmark (90%) HP:0002091
2 respiratory insufficiency hallmark (90%) HP:0002093
3 pulmonary infiltrates hallmark (90%) HP:0002113
4 chest pain hallmark (90%) HP:0100749
5 multicystic kidney dysplasia typical (50%) HP:0000003
6 abnormality of female internal genitalia typical (50%) HP:0000008
7 hematuria typical (50%) HP:0000790
8 abdominal pain typical (50%) HP:0002027
9 emphysema typical (50%) HP:0002097
10 lymphadenopathy typical (50%) HP:0002716
11 atelectasis typical (50%) HP:0100750
12 ungual fibroma typical (50%) HP:0100804
13 polycystic kidney dysplasia occasional (7.5%) HP:0000113
14 hydrocephalus occasional (7.5%) HP:0000238
15 optic atrophy occasional (7.5%) HP:0000648
16 lymphedema occasional (7.5%) HP:0001004
17 hypermelanotic macule occasional (7.5%) HP:0001034
18 seizures occasional (7.5%) HP:0001250
19 ascites occasional (7.5%) HP:0001541
20 abnormality of the pericardium occasional (7.5%) HP:0001697
21 abnormality of the pleura occasional (7.5%) HP:0002103
22 hemoptysis occasional (7.5%) HP:0002105
23 recurrent respiratory infections occasional (7.5%) HP:0002205
24 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
25 abnormality of temperature regulation occasional (7.5%) HP:0004370
26 retinal hamartoma occasional (7.5%) HP:0009594
27 shagreen patch occasional (7.5%) HP:0009721
28 renal neoplasm occasional (7.5%) HP:0009726
29 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Lymphangioleiomyomatosis

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Drug clinical trials:

Search ClinicalTrials for Lymphangioleiomyomatosis

Search NIH Clinical Center for Lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

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Genetic tests related to Lymphangioleiomyomatosis:

id Genetic test Affiliating Genes
1 Lymphangiomyomatosis22

Anatomical Context for Lymphangioleiomyomatosis

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MalaCards organs/tissues related to Lymphangioleiomyomatosis:

31
Lung, Kidney, Smooth muscle, Lymph node, Liver, Brain, Skin, Uterus, Endothelial, Testes, Bone, Heart, Colon, Adipocyte, Thyroid, T cells

Animal Models for Lymphangioleiomyomatosis or affiliated genes

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MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

35 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2TSC1, TSC2, IGF1R, PGR, ESR1
2MP:00053888.0MTOR, TSC1, ESR1, IGF1R, MMP2
3MP:00053807.8MTOR, IGF1R, PGR, TSC2, TSC1, ESR1
4MP:00053897.8TSC2, TSC1, ESR1, PGR, IGF1R
5MP:00053907.8ESR1, PGR, IGF1R, MTOR, TSC1, MMP2
6MP:00053977.7IGF1R, MTOR, PGR, ESR1, TSC2, MMP2
7MP:00053847.6ESR1, MTOR, TSC1, TSC2, IGF1R, PGR
8MP:00053787.6MTOR, TSC1, TSC2, MMP2, ESR1, IGF1R
9MP:00053867.6MTOR, DES, IGF1R, PGR, TSC2, ESR1
10MP:00036317.5MTOR, IGF1R, ESR1, MMP2, TSC2, TSC1
11MP:00053697.5TSC1, ESR1, MMP2, MTOR, PGR, IGF1R
12MP:00020067.5TSC1, PGR, ESR1, MMP2, MMP1, IGF1R
13MP:00053857.3ESR1, VEGFC, DES, TSC2, PGR, MMP2
14MP:00053877.1ESR1, MMP1, MTOR, IGF1R, VEGFC, PGR
15MP:00107686.8TSC2, MMP2, MTOR, TSC1, ESR1, PGR
16MP:00053766.3DES, MTOR, TSC1, TSC2, IGF1R, VEGFC

Publications for Lymphangioleiomyomatosis

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Articles related to Lymphangioleiomyomatosis:

(show top 50)    (show all 544)
idTitleAuthorsYear
1
Genetic Heterogeneity of Circulating Cells from Patients with Lymphangioleiomyomatosis with and without Lung Transplantation. (25830522)
2015
2
TSC2 Loss Increases Lysophosphatidylcholine Synthesis in Lymphangioleiomyomatosis. (25780943)
2015
3
Chronic sirolimus therapy for lymphangioleiomyomatosis. (25496098)
2014
4
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis. (25326562)
2014
5
Clinical features of 280 hospitalized patients with lymphangioleiomyomatosis in Japan. (25385157)
2014
6
Doxycycline use in patients with lymphangioleiomyomatosis: biomarkers and pulmonary function response. (23503480)
2013
7
Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy. (23919845)
2013
8
The efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis. (23978644)
2013
9
Probable initial pulmonary lymphangioleiomyomatosis and mediastinal lymphangioleiomyoma. (24268918)
2013
10
Commentary on: everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. (23642941)
2013
11
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
12
LAM cells biology and lymphangioleiomyomatosis. (23690211)
2013
13
Bronchoscopic diagnosis of Langerhans cell histiocytosis and lymphangioleiomyomatosis. (22770823)
2012
14
Bilateral pneumothorax in pregnancy unmasking lymphangioleiomyomatosis. (21076889)
2011
15
Efficacy and safety of sirolimus in lymphangioleiomyomatosis. (21410393)
2011
16
Successful pregnancy complicated by persistent pneumothorax in a patient with lymphangioleiomyomatosis (LAM) on sirolimus. (22117507)
2011
17
The St. George's Respiratory Questionnaire in lymphangioleiomyomatosis. (21180274)
2010
18
Lymphangioleiomyomatosis (LAM): molecular insights lead to targeted therapies. (20630348)
2010
19
European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. (20044458)
2010
20
Pregnancy complicated by lymphangioleiomyomatosis. (19249892)
2009
21
Involvement of lymphatics in lymphangioleiomyomatosis. (20143921)
2009
22
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. (19419980)
2009
23
New diagnosis and subsequent post-partum radiological improvement of lymphangioleiomyomatosis. (19401495)
2009
24
Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. (17541983)
2008
25
Extrapulmonary lymphangioleiomyomatosis presented as the asymptomatic retroperitoneal tumours--two cases report. (17285764)
2006
26
Lymphangioleiomyomatosis. (16707400)
2006
27
Lymphangioleiomyomatosis. (17075565)
2006
28
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
29
Combined smooth muscle and melanocytic differentiation in lymphangioleiomyomatosis. (15557209)
2004
30
Lymphangioleiomyomatosis: a case report and review of the literature. (15656345)
2004
31
Should patients with lymphangioleiomyomatosis undergo screening for meningioma? (15516686)
2004
32
Pulmonary lymphangioleiomyomatosis: a clinicopathological analysis of ten cases. (15148998)
2004
33
Localized retroperitoneal lymphangioleiomyomatosis mimicking malignancy. A case report and review of the literature. (12823048)
2003
34
Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis. (12666075)
2003
35
Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). (12045200)
2002
36
Canadian respirologists' experience with lymphangioleiomyomatosis. (12522487)
2002
37
Lymphangioleiomyomatosis. A series of three case reports illustrating the link with high oestrogen states. (11771497)
2001
38
Longitudinal follow-up study of 11 patients with pulmonary lymphangioleiomyomatosis: diverse clinical courses of LAM allow some patients to be treated without anti-hormone therapy. (11844125)
2001
39
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. (10631194)
2000
40
Hyperplasia of type II pneumocytes in pulmonary lymphangioleiomyomatosis. (11079017)
2000
41
Pulmonary lymphangioleiomyomatosis in Korea. (10377208)
1999
42
Retroperitoneal lymphangioleiomyomatosis. (9880962)
1998
43
Immunohistochemical analysis of proteins of the Bcl-2 family in pulmonary lymphangioleiomyomatosis: association of Bcl-2 expression with hormone receptor status. (9786350)
1998
44
Multifocal alveolar hyperplasia associated with lymphangioleiomyomatosis in tuberous sclerosis. (9205862)
1997
45
Lymphangioleiomyomatosis: recurrence after single lung transplantation. (9416700)
1997
46
Pregnancy exacerbating unsuspected mediastinal lymphangioleiomyomatosis and chylothorax. (8775689)
1996
47
Lymphangioleiomyomatosis and tuberous sclerosis: where is the border? (8729994)
1996
48
Diagnosis of pulmonary lymphangioleiomyomatosis by HMB45 in surgically treated spontaneous pneumothorax. (8620956)
1995
49
Chyloptyses found in a patient with lymphangioleiomyomatosis. (7497815)
1995
50
Bilateral spontaneous pneumothorax as the presenting feature in lymphangioleiomyomatosis. (7638376)
1995

Variations for Lymphangioleiomyomatosis

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UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

63
id Symbol AA change Variation ID SNP ID
1TSC2p.Arg611GlnVAR_005650

Clinvar genetic disease variations for Lymphangioleiomyomatosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TSC2NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu)single nucleotide variantPathogenicrs45483392GRCh37Chr 16, 2137898: 2137898
2TSC2NM_000548.3(TSC2): c.1513C> T (p.Arg505Ter)single nucleotide variantPathogenicrs45517179GRCh37Chr 16, 2114342: 2114342
3TSC2NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln)single nucleotide variantPathogenicrs28934872GRCh37Chr 16, 2120572: 2120572
4TSC2NM_000548.3(TSC2): c.1096G> T (p.Glu366Ter)single nucleotide variantPathogenicrs45517148GRCh37Chr 16, 2110791: 2110791
5TSC2NM_000548.3(TSC2): c.5238_5255del18 (p.His1746_Arg1751del)deletionPathogenicrs137854225GRCh37Chr 16, 2138305: 2138322
6TSC1NM_000368.4(TSC1): c.495C> A (p.Cys165Ter)single nucleotide variantPathogenicrs118203388GRCh37Chr 9, 135798748: 135798748

Expression for genes affiliated with Lymphangioleiomyomatosis

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Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for genes affiliated with Lymphangioleiomyomatosis

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Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TSC2, MTOR
29.6MMP2, MMP1
39.6MMP2, MMP1
4
Show member pathways
9.5PGR, ESR1
59.5MMP2, ESR1
69.4MTOR, TSC1, TSC2
7
Show member pathways
mTOR signaling pathway36
9.4MTOR, TSC1, TSC2
89.4TSC2, TSC1, MTOR
99.1TSC2, ESR1, MTOR
109.1TSC2, TSC1, IGF1R
11
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.9TSC2, MMP1, MTOR, TSC1
12
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis59
8.9IGF1R, TSC2, MTOR
13
Show member pathways
Signal transduction PTEN pathway59
8.9TSC2, MTOR, IGF1R
148.8TSC2, MTOR, TSC1, ESR1
15
Show member pathways
8.8TSC2, ESR1, PGR, MTOR
16
Show member pathways
Metalloproteases in connective tissue degradation
8.8IGF1R, MMP1, MMP2
17
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
8.7MMP2, ESR1, MTOR, TSC2
18
Show member pathways
8.7IGF1R, TSC1, TSC2, VEGFC
198.7IGF1R, MMP2, ESR1
20
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
8.6IGF1R, TSC2, TSC1, MTOR
21
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
8.6MTOR, TSC1, TSC2, IGF1R
228.6TSC2, MTOR, TSC1, IGF1R
238.6IGF1R, TSC1, MTOR, TSC2
24
Show member pathways
8.6TSC1, IGF1R, TSC2, MTOR
25
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
8.5MTOR, TSC2, IGF1R, MMP2
268.3TSC2, MMP1, ESR1, TSC1, MTOR
278.2TSC1, TSC2, IGF1R, VEGFC, MTOR
288.2MMP2, MTOR, ESR1, IGF1R
29
Show member pathways
8.1CCL26, VEGFC, IGF1R, TSC2, TSC1
30
Show member pathways
8.0IGF1R, VEGFC, TSC1, TSC2, ESR1
317.9MMP2, VEGFC, IGF1R, MTOR, MMP1
32
Show member pathways
7.7ESR1, IGF1R, MMP2, MMP1, VEGFC
33
Show member pathways
Signaling Pathways in Glioblastoma36
7.7MMP1, TSC1, TSC2, MTOR, MMP2, IGF1R
34
Show member pathways
7.2PGR, TSC2, ESR1, VEGFC, MTOR, IGF1R
35
Show member pathways
7.2IGF1R, CCL26, TSC1, TSC2, ESR1, VEGFC

Compounds for genes affiliated with Lymphangioleiomyomatosis

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Compounds related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1phxa 85449.8MMP2, MMP1
2ici 164384449.7PGR, ESR1
3cgs-27023a449.7MMP2, MMP1
4idoxifene449.6PGR, ESR1
5triphenylethylene449.5PGR, ESR1
6taxane449.4PGR, MTOR, ESR1
7tibolone449.3ESR1, MMP1, PGR
8levonorgestrel44 60 28 1112.3PGR, MMP1, ESR1
9alendronate44 50 1111.2MMP1, MMP2, ESR1
103-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.2IGF1R, DES, MMP2
11lapatinib44 50 1111.1ESR1, PGR, IGF1R
12clomiphene citrate449.1IGF1R, PGR, ESR1
13methotrexate50 44 1110.8MMP1, ESR1, PGR, MMP2
14hyaluronic acid44 249.8IGF1R, MMP2, MMP1, DES
15raloxifene44 50 28 1111.8IGF1R, PGR, ESR1
16dihydrotestosterone44 28 24 1111.7IGF1R, DES, ESR1, PGR
1712-o-tetradecanoylphorbol 13-acetate448.7MMP2, MMP1, MTOR, DES
18trastuzumab44 50 1110.7IGF1R, VEGFC, ESR1, PGR
19glycogen44 249.7TSC2, TSC1, MTOR, IGF1R, DES
20vitamin a44 24 1110.6MMP1, MMP2, PGR, IGF1R
21gefitinib44 50 1110.6MMP2, MTOR, IGF1R, ESR1
22docetaxel44 50 60 1111.6ESR1, IGF1R, MTOR, PGR
23everolimus44 50 1110.4MTOR, TSC1, TSC2, IGF1R, ESR1
24ribonucleic acid448.4MMP1, VEGFC, MMP2, PGR, IGF1R
25matrigel448.3MTOR, IGF1R, VEGFC, MMP2, MMP1
26progestin448.3ESR1, MMP1, DES, IGF1R, PGR
27resveratrol44 60 24 1111.3ESR1, MMP2, MTOR, IGF1R, PGR
285fluorouracil448.3MTOR, IGF1R, PGR, ESR1, MMP2
29phosphatidylinositol448.2MTOR, TSC1, TSC2, MMP2, VEGFC, IGF1R
30glucose448.2TSC1, VEGFC, IGF1R, DES, MTOR, TSC2
31cycloheximide448.1IGF1R, MMP1, MMP2, ESR1, PGR
32pd 98,059448.0TSC1, MMP2, VEGFC, IGF1R, MMP1, MTOR
33steroid448.0DES, PGR, ESR1, TSC2, MTOR, IGF1R
34rapamycin448.0MMP1, TSC2, TSC1, IGF1R, MTOR, CCL26
35oxygen44 249.0DES, MTOR, IGF1R, VEGFC, TSC2, CCL26
36ly294002447.9IGF1R, VEGFC, ESR1, MMP2, MTOR, TSC2
37cysteine447.9MMP2, CCL26, MMP1, PGR, IGF1R, DES
38tyrosine447.8DES, MMP2, TSC2, TSC1, MTOR, VEGFC
39doxorubicin44 50 119.8PGR, ESR1, MTOR, IGF1R, MMP1, DES
40serine447.8IGF1R, MMP2, MMP1, TSC2, TSC1, MTOR
41genistein44 28 60 1 24 1112.7IGF1R, PGR, ESR1, MMP2, MMP1, MTOR
42dexamethasone44 50 28 1110.6VEGFC, PGR, MMP1, MTOR, IGF1R
43progesterone44 28 60 24 1111.5IGF1R, MMP1, MMP2, ESR1, PGR, VEGFC
44estradiol44 24 119.4DES, VEGFC, IGF1R, MTOR, MMP1, PGR
45calcium44 50 24 1110.0CCL26, VEGFC, MMP2, MMP1, DES, MTOR
46retinoic acid44 248.0MMP2, IGF1R, MTOR, MMP1, PGR, ESR1
47paraffin446.9ESR1, MMP2, TSC2, TSC1, MMP1, IGF1R
48testosterone44 60 24 119.8VEGFC, IGF1R, DES, MTOR, MMP2, MMP1
49estrogen446.8TSC2, DES, IGF1R, VEGFC, MTOR, MMP1
50vegf446.5ESR1, VEGFC, IGF1R, DES, PGR, MTOR

GO Terms for genes affiliated with Lymphangioleiomyomatosis

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Cellular components related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:00335969.9TSC1, TSC2
2membraneGO:00160207.3MTOR, TSC1, TSC2, ESR1, VEGFC, IGF1R

Biological processes related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:003200710.0TSC1, TSC2
2regulation of protein kinase activityGO:00458599.8MTOR, TSC1
3negative regulation of cell sizeGO:00457929.7MTOR, TSC1, TSC2
4positive chemotaxisGO:00509189.7TSC2, VEGFC
5cell projection organizationGO:00300309.6TSC1, TSC2
6insulin-like growth factor receptor signaling pathwayGO:00480099.5TSC2, IGF1R
7positive regulation of actin filament polymerizationGO:00308389.5MTOR, CCL26
8phosphatidylinositol 3-kinase signalingGO:00140659.4IGF1R, TSC2
9negative regulation of protein kinase B signalingGO:00518989.4TSC2, IGF1R
10protein heterooligomerizationGO:00512919.3TSC1, TSC2, IGF1R
11phosphatidylinositol-mediated signalingGO:00480159.1IGF1R, TSC2, MTOR
12insulin receptor signaling pathwayGO:00082868.9IGF1R, TSC2, TSC1, MTOR
13signal transductionGO:00071657.5IGF1R, VEGFC, PGR, ESR1, CCL26, MTOR

Molecular functions related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1steroid hormone receptor activityGO:00037079.5ESR1, PGR
2steroid bindingGO:00054969.2ESR1, PGR
3protein bindingGO:00055156.4MTOR, DES, IGF1R, VEGFC, PGR, ESR1

Sources for Lymphangioleiomyomatosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet