LAM
MCID: LYM007
MIFTS: 73

Lymphangioleiomyomatosis (LAM) malady

Genetic diseases, Rare diseases, Respiratory diseases, Immune diseases categories
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Summaries for Lymphangioleiomyomatosis

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis and tuberous sclerosis complex, and has symptoms including abnormal colour of the urine/cholic/dark urines, polycystic kidneys and lymphedema. An important gene associated with Lymphangioleiomyomatosis is TSC1 (tuberous sclerosis 1), and among its related pathways are FSH signaling pathway and Validated transcriptional targets of AP1 family members Fra1 and Fra2. 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:65 Lymphangioleiomyomatosis (LAM) is a rare lung disease that results in a proliferation of disorderly... more...

Description from OMIM:47 606690

Aliases & Classifications for Lymphangioleiomyomatosis

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GTR, 35MeSH, 40NCIt, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
lymphangioleiomyomatosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

lymphangioleiomyomatosis 8 9 43 21 47 10 45 49 62
lymphangiomyomatosis 8 21 45
lam 43 21 49
pulmonary lymphangioleiomyomatosis 8 62
lymphangio-myomatosis 43 22
lung lymphangioleiomyomatosis 8


External Ids:

Disease Ontology8 DOID:3319
MeSH35 D018192
NCIt40 C38153
OMIM47 606690
SNOMED-CT58 277844007
MESH via Orphanet36 D018192
ICD10 via Orphanet26 J98.4
SNOMED-CT via Orphanet59 73017001
UMLS via Orphanet63 C0751674

Related Diseases for Lymphangioleiomyomatosis

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17GeneCards, 18GeneDecks
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Diseases in the Lymphangioleiomyomatosis family:

Tsc1-Related Lymphangioleiomyomatosis

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.2TSC2, TSC1, CCL26, MTOR
2tuberous sclerosis complex31.1TSC1, TSC2
3angiomyolipoma30.9DES, MTOR, CCL26, TSC1, TSC2, ESR1
4perivascular epithelioid cell tumor30.5TSC2
5meningioma30.5PGR, ESR1
6leiomyoma30.4DES, PGR, ESR1, TSC2
7endometrial stromal sarcoma30.1DES, PGR, ESR1
8sarcoma30.0MTOR, IGF1R, DES
9polycystic kidney disease29.9TSC2, MTOR
10leiomyomatosis29.9PGR, ESR1
11leiomyosarcoma29.9PGR, DES
12smooth muscle tumor29.9DES, PGR, ESR1
13papillary carcinoma29.9ESR1, PGR, VEGFC
14ovarian cancer29.6IGF1R, VEGFC, PGR, ESR1, MMP2, MTOR
15melanoma29.6DES, IGF1R, VEGFC, MMP2, MMP1, TSC2
16pneumothorax10.5
17spontaneous pneumothorax10.4
18endotheliitis10.3
19endosalpingiosis10.3
20chylous ascites10.3
21pulmonary function10.2
22idiopathic pulmonary fibrosis10.1
23hepatitis10.1
24histiocytosis10.1
25mediastinitis10.1
26pulmonary fibrosis10.1
27benign metastasizing leiomyoma10.1
28cerebral meningioma10.1PGR
29alexander disease10.1DES
30cystadenoma10.1VEGFC
31fibromatosis10.1PGR, DES
32infantile epileptic encephalopathy10.1TSC2, TSC1
33cowden disease10.1TSC1, TSC2
34spindle cell carcinoma10.1DES, PGR
35sertoli cell tumor10.1DES, PGR
36ganglioglioma10.1TSC2, TSC1
37fibroma10.1TSC1, DES
38sex cord-gonadal stromal tumor10.1PGR, DES
39malignant mixed mullerian tumor10.1PGR, DES
40tongue cancer10.1VEGFC, MMP2
41thoracic aortic aneurysm10.1MMP2, MMP1
42fibromatosis, gingival10.1MMP2, MMP1
43peripheral primitive neuroectodermal tumor10.1IGF1R
44neurofibromatosis10.1TSC2, TSC1
45conjunctivochalasis10.1MMP2, MMP1
46cribriform carcinoma10.1PGR, ESR1
47uterine sarcoma10.1DES, ESR1
48progesterone resistance10.1ESR1, PGR
49mammary paget's disease10.1PGR, ESR1
50bilateral breast cancer10.1PGR, ESR1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to lymphangioleiomyomatosis

Symptoms for Lymphangioleiomyomatosis

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47OMIM, 49Orphanet
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Clinical features from OMIM:

606690

Symptoms:

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

Drugs & Therapeutics for Lymphangioleiomyomatosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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Genetic tests related to Lymphangioleiomyomatosis:

id Genetic test Affiliating Genes
1 Lymphangiomyomatosis22

Anatomical Context for Lymphangioleiomyomatosis

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33MalaCards
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MalaCards organs/tissues related to Lymphangioleiomyomatosis:

33
Lung, Kidney, Smooth muscle, Lymph node, Liver, Brain, Skin, Uterus, Endothelial, Testes, T cells, Heart, Bone, Colon, Thyroid

Animal Models for Lymphangioleiomyomatosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

37 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2IGF1R, PGR, ESR1, TSC2, TSC1
2MP:00053888.1IGF1R, ESR1, MMP2, TSC1, MTOR
3MP:00053807.8IGF1R, PGR, ESR1, TSC2, TSC1, MTOR
4MP:00053897.8IGF1R, PGR, ESR1, TSC2, TSC1
5MP:00053907.8IGF1R, PGR, ESR1, MMP2, TSC1, MTOR
6MP:00053977.7IGF1R, PGR, ESR1, MMP2, TSC2, MTOR
7MP:00053847.6IGF1R, PGR, ESR1, TSC2, TSC1, MTOR
8MP:00053787.6MTOR, TSC1, TSC2, MMP2, ESR1, IGF1R
9MP:00053867.6DES, IGF1R, PGR, ESR1, TSC2, TSC1
10MP:00053697.5DES, IGF1R, PGR, ESR1, MMP2, TSC1
11MP:00036317.5IGF1R, ESR1, MMP2, TSC2, TSC1, MTOR
12MP:00020067.5IGF1R, PGR, ESR1, MMP2, MMP1, TSC2
13MP:00053857.3DES, IGF1R, VEGFC, PGR, ESR1, MMP2
14MP:00053877.1IGF1R, VEGFC, PGR, ESR1, MMP2, MMP1
15MP:00107686.8DES, IGF1R, VEGFC, PGR, ESR1, MMP2
16MP:00053766.3MTOR, DES, IGF1R, VEGFC, PGR, ESR1

Publications for Lymphangioleiomyomatosis

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52PubMed
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Articles related to Lymphangioleiomyomatosis:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
Doxycycline use in patients with lymphangioleiomyomatosis: biomarkers and pulmonary function response. (23503480)
2013
2
Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy. (23919845)
2013
3
The efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis. (23978644)
2013
4
Probable initial pulmonary lymphangioleiomyomatosis and mediastinal lymphangioleiomyoma. (24268918)
2013
5
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
6
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
7
LAM cells biology and lymphangioleiomyomatosis. (23690211)
2013
8
Tuberous sclerosis presenting with spontaneous pneumothorax secondary to lymphangioleiomyomatosis; previously mistaken for asthma. (23729718)
2013
9
Bronchoscopic diagnosis of Langerhans cell histiocytosis and lymphangioleiomyomatosis. (22770823)
2012
10
Bilateral pneumothorax in pregnancy unmasking lymphangioleiomyomatosis. (21076889)
2011
11
Efficacy and safety of sirolimus in lymphangioleiomyomatosis. (21410393)
2011
12
Successful pregnancy complicated by persistent pneumothorax in a patient with lymphangioleiomyomatosis (LAM) on sirolimus. (22117507)
2011
13
Prevalence of uterine leiomyomas in lymphangioleiomyomatosis. (21880281)
2011
14
The St. George's Respiratory Questionnaire in lymphangioleiomyomatosis. (21180274)
2010
15
Lymphangioleiomyomatosis (LAM): molecular insights lead to targeted therapies. (20630348)
2010
16
Pregnancy complicated by lymphangioleiomyomatosis. (19249892)
2009
17
Involvement of lymphatics in lymphangioleiomyomatosis. (20143921)
2009
18
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. (19419980)
2009
19
New diagnosis and subsequent post-partum radiological improvement of lymphangioleiomyomatosis. (19401495)
2009
20
Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. (17541983)
2008
21
Lymphangioleiomyomatosis: A review. (18549932)
2008
22
Extrapulmonary lymphangioleiomyomatosis presented as the asymptomatic retroperitoneal tumours--two cases report. (17285764)
2006
23
Lymphangioleiomyomatosis. (16707400)
2006
24
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
25
Combined smooth muscle and melanocytic differentiation in lymphangioleiomyomatosis. (15557209)
2004
26
Lymphangioleiomyomatosis: a case report and review of the literature. (15656345)
2004
27
Should patients with lymphangioleiomyomatosis undergo screening for meningioma? (15516686)
2004
28
Pulmonary lymphangioleiomyomatosis: a clinicopathological analysis of ten cases. (15148998)
2004
29
Localized retroperitoneal lymphangioleiomyomatosis mimicking malignancy. A case report and review of the literature. (12823048)
2003
30
Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis. (12666075)
2003
31
Lymphangioleiomyomatosis initially presenting with abdominal pain: a case report. (12727053)
2003
32
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
33
Canadian respirologists' experience with lymphangioleiomyomatosis. (12522487)
2002
34
Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. (11893688)
2002
35
Lymphangioleiomyomatosis: a review of the literature. (11863203)
2002
36
Lymphangioleiomyomatosis. A series of three case reports illustrating the link with high oestrogen states. (11771497)
2001
37
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
38
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. (10631194)
2000
39
Hyperplasia of type II pneumocytes in pulmonary lymphangioleiomyomatosis. (11079017)
2000
40
Pulmonary lymphangioleiomyomatosis in Korea. (10377208)
1999
41
Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis. (10460750)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

64
id Symbol AA change Variation ID SNP ID
1TSC2p.Arg611GlnVAR_005650

Clinvar genetic disease variations for Lymphangioleiomyomatosis:

1
id Gene Name 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 variantPathogenic, otherrs28934872GRCh37Chr 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for genes affiliated with Lymphangioleiomyomatosis

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 5Cell Signaling Technology, 30KEGG, 53QIAGEN, 60Thomson Reuters, 12EMD Millipore, 54R&D Systems
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Pathways related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MTOR, TSC2
29.6MMP1, MMP2
39.6MMP2, MMP1
4
Show member pathways
9.5ESR1, PGR
59.5MMP2, ESR1
69.4MTOR, TSC1, TSC2
79.4MTOR, TSC1, TSC2
8
Show member pathways
mTOR signaling pathway38
9.4TSC2, TSC1, MTOR
99.1ESR1, TSC2, MTOR
109.1TSC1, TSC2, IGF1R
11
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.9MMP1, TSC2, TSC1, MTOR
12
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
8.9MTOR, TSC2, IGF1R
13
Show member pathways
Signal transduction PTEN pathway60
8.9MTOR, TSC2, IGF1R
148.8MTOR, TSC1, TSC2, ESR1
15
Show member pathways
8.8IGF1R, MMP2, MMP1
16
Show member pathways
8.8MTOR, TSC2, ESR1, PGR
17
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.7ESR1, MMP2, TSC2, MTOR
18
Show member pathways
8.7TSC1, TSC2, VEGFC, IGF1R
198.7MMP2, ESR1, IGF1R
20
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.6IGF1R, TSC2, TSC1, MTOR
218.6IGF1R, TSC2, TSC1, MTOR
22
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.6IGF1R, TSC2, TSC1, MTOR
23
Show member pathways
8.6IGF1R, TSC2, TSC1, MTOR
248.6IGF1R, TSC2, TSC1, MTOR
25
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.5MTOR, TSC2, MMP2, IGF1R
268.3ESR1, MMP1, TSC2, TSC1, MTOR
278.2IGF1R, VEGFC, TSC2, TSC1, MTOR
288.2MTOR, MMP2, ESR1, IGF1R
29
Show member pathways
8.1CCL26, TSC1, TSC2, VEGFC, IGF1R
30
Show member pathways
8.0IGF1R, VEGFC, ESR1, TSC2, TSC1
317.9IGF1R, VEGFC, MMP2, MMP1, MTOR
32
Show member pathways
7.7IGF1R, VEGFC, ESR1, MMP2, MMP1
33
Show member pathways
Signaling Pathways in Glioblastoma38
7.7MTOR, TSC1, TSC2, MMP1, MMP2, IGF1R
34
Show member pathways
7.2IGF1R, VEGFC, PGR, ESR1, TSC2, TSC1
35
Show member pathways
7.2DES, IGF1R, VEGFC, ESR1, TSC2, TSC1

Compounds for genes affiliated with Lymphangioleiomyomatosis

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1phxa 85459.8MMP2, MMP1
2ici 164384459.7PGR, ESR1
3cgs-27023a459.7MMP2, MMP1
4idoxifene459.6PGR, ESR1
5vgvapg459.6MMP2, MMP1
6taxane459.4PGR, MTOR, ESR1
7tibolone459.3ESR1, MMP1, PGR
8levonorgestrel45 61 29 1112.3PGR, MMP1, ESR1
9alendronate45 51 1111.2MMP1, MMP2, ESR1
103-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.2IGF1R, DES, MMP2
11lapatinib45 51 1111.1ESR1, PGR, IGF1R
12clomiphene citrate459.1IGF1R, PGR, ESR1
13methotrexate51 45 1110.8MMP1, ESR1, PGR, MMP2
14hyaluronic acid45 249.8IGF1R, MMP2, MMP1, DES
15raloxifene45 51 29 1111.8IGF1R, PGR, ESR1
16dihydrotestosterone45 29 24 1111.7IGF1R, DES, ESR1, PGR
1712-o-tetradecanoylphorbol 13-acetate458.7MMP2, MMP1, MTOR, DES
18trastuzumab45 51 1110.7IGF1R, VEGFC, ESR1, PGR
19glycogen45 249.7TSC2, TSC1, MTOR, IGF1R, DES
20vitamin a45 24 1110.6MMP1, MMP2, PGR, IGF1R
21gefitinib45 51 1110.6MMP2, MTOR, IGF1R, ESR1
22docetaxel45 51 61 1111.6ESR1, IGF1R, MTOR, PGR
23everolimus45 51 1110.4MTOR, TSC1, TSC2, IGF1R, ESR1
24ribonucleic acid458.4MMP1, VEGFC, MMP2, PGR, IGF1R
25matrigel458.3MTOR, IGF1R, VEGFC, MMP2, MMP1
26progestin458.3ESR1, MMP1, DES, IGF1R, PGR
27resveratrol45 61 24 1111.3ESR1, MMP2, MTOR, IGF1R, PGR
285fluorouracil458.3MTOR, IGF1R, PGR, ESR1, MMP2
29phosphatidylinositol458.2MTOR, TSC1, TSC2, MMP2, VEGFC, IGF1R
30glucose458.2TSC1, VEGFC, IGF1R, DES, MTOR, TSC2
31cycloheximide458.1IGF1R, MMP1, MMP2, ESR1, PGR
32pd 98,059458.0TSC1, MMP2, VEGFC, IGF1R, MMP1, MTOR
33steroid458.0DES, PGR, ESR1, TSC2, MTOR, IGF1R
34rapamycin458.0MMP1, TSC2, TSC1, IGF1R, MTOR, CCL26
35oxygen45 249.0DES, MTOR, IGF1R, VEGFC, TSC2, CCL26
36ly294002457.9IGF1R, VEGFC, ESR1, MMP2, MTOR, TSC2
37cysteine457.9MMP2, CCL26, MMP1, PGR, IGF1R, DES
38tyrosine457.8DES, MMP2, TSC2, TSC1, MTOR, VEGFC
39doxorubicin45 51 119.8PGR, ESR1, MTOR, IGF1R, MMP1, DES
40serine457.8IGF1R, MMP2, MMP1, TSC2, TSC1, MTOR
41genistein45 29 61 3 24 1112.7IGF1R, PGR, ESR1, MMP2, MMP1, MTOR
42dexamethasone45 51 29 1110.6VEGFC, PGR, MMP1, MTOR, IGF1R
43progesterone45 29 61 24 1111.5IGF1R, MMP1, MMP2, ESR1, PGR, VEGFC
44estradiol45 24 119.4DES, VEGFC, IGF1R, MTOR, MMP1, PGR
45calcium45 51 24 1110.0CCL26, VEGFC, MMP2, MMP1, DES, MTOR
46retinoic acid45 248.0MMP2, IGF1R, MTOR, MMP1, PGR, ESR1
47paraffin456.9ESR1, MMP2, TSC2, TSC1, MMP1, IGF1R
48testosterone45 61 24 119.8VEGFC, IGF1R, DES, MTOR, MMP2, MMP1
49estrogen456.7TSC2, DES, IGF1R, VEGFC, MTOR, MMP1
50vegf456.5ESR1, VEGFC, IGF1R, DES, PGR, MTOR

GO Terms for genes affiliated with Lymphangioleiomyomatosis

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16Gene Ontology
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Cellular components related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.9TSC1, TSC2
2membraneGO:0160207.3MTOR, TSC1, TSC2, ESR1, VEGFC, IGF1R

Biological processes related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:03200710.0TSC1, TSC2
2regulation of protein kinase activityGO:0458599.9MTOR, TSC1
3negative regulation of cell sizeGO:0457929.7MTOR, TSC1, TSC2
4positive chemotaxisGO:0509189.7TSC2, VEGFC
5cell projection organizationGO:0300309.6TSC1, TSC2
6insulin-like growth factor receptor signaling pathwayGO:0480099.5TSC2, IGF1R
7positive regulation of actin filament polymerizationGO:0308389.5MTOR, CCL26
8phosphatidylinositol 3-kinase signalingGO:0140659.4IGF1R, TSC2
9negative regulation of protein kinase B signalingGO:0518989.4TSC2, IGF1R
10protein heterooligomerizationGO:0512919.3TSC1, TSC2, IGF1R
11phosphatidylinositol-mediated signalingGO:0480159.1IGF1R, TSC2, MTOR
12insulin receptor signaling pathwayGO:0082868.9IGF1R, TSC2, TSC1, MTOR
13signal transductionGO:0071657.5IGF1R, VEGFC, PGR, ESR1, CCL26, MTOR

Molecular functions related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid hormone receptor activityGO:0037079.5ESR1, PGR
2steroid bindingGO:0054969.2ESR1, PGR
3protein bindingGO:0055156.4MTOR, DES, IGF1R, VEGFC, PGR, ESR1

Products for genes affiliated with Lymphangioleiomyomatosis

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Sources for Lymphangioleiomyomatosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet