LAM
MCID: LYM007
MIFTS: 73

Lymphangioleiomyomatosis (LAM) malady

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

Summaries for Lymphangioleiomyomatosis

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.

Wikipedia:66 Lymphangioleiomyomatosis (LAM) is a rare lung disease that results in a proliferation of disorderly... more...

Description from OMIM:48 606690

Aliases & Classifications for Lymphangioleiomyomatosis

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 36MeSH, 41NCIt, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
lymphangioleiomyomatosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

lymphangioleiomyomatosis 9 10 44 22 48 11 46 50 63
lymphangiomyomatosis 9 22 46
lam 44 22 50
pulmonary lymphangioleiomyomatosis 9 63
lymphangio-myomatosis 44 23
lung lymphangioleiomyomatosis 9


External Ids:

Disease Ontology9 DOID:3319
MeSH36 D018192
NCIt41 C38153
OMIM48 606690
SNOMED-CT59 277844007
MESH via Orphanet37 D018192
ICD10 via Orphanet27 J98.4
SNOMED-CT via Orphanet60 73017001
UMLS via Orphanet64 C0751674

Related Diseases for Lymphangioleiomyomatosis

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Clinical features from OMIM:

606690

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Lymphangioleiomyomatosis

Drug clinical trials:

Search ClinicalTrials for Lymphangioleiomyomatosis

Search NIH Clinical Center for Lymphangioleiomyomatosis

Search CenterWatch for Lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

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23GTR
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Genetic tests related to Lymphangioleiomyomatosis:

id Genetic test Affiliating Genes
1 Lymphangiomyomatosis23

Anatomical Context for Lymphangioleiomyomatosis

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34MalaCards
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MalaCards organs/tissues related to Lymphangioleiomyomatosis:

34
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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38MGI
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MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

38 (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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

65
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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 5Cell Signaling Technology, 31KEGG, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore, 55R&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 pathway39
9.4TSC2, TSC1, MTOR
99.1ESR1, TSC2, MTOR
109.1TSC1, TSC2, IGF1R
11
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
8.9MMP1, TSC2, TSC1, MTOR
12
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis61
8.9MTOR, TSC2, IGF1R
13
Show member pathways
Signal transduction PTEN pathway61
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 signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
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 regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.6IGF1R, TSC2, TSC1, MTOR
218.6IGF1R, TSC2, TSC1, MTOR
22
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
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 Receptor61
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 Glioblastoma39
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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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB
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Compounds related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1phxa 85469.8MMP2, MMP1
2ici 164384469.7PGR, ESR1
3cgs-27023a469.7MMP2, MMP1
4idoxifene469.6PGR, ESR1
5vgvapg469.6MMP2, MMP1
6taxane469.4PGR, MTOR, ESR1
7tibolone469.3ESR1, MMP1, PGR
8levonorgestrel46 62 30 1212.3PGR, MMP1, ESR1
9alendronate46 52 1211.2MMP1, MMP2, ESR1
103-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.2IGF1R, DES, MMP2
11lapatinib46 52 1211.1ESR1, PGR, IGF1R
12clomiphene citrate469.1IGF1R, PGR, ESR1
13methotrexate52 46 1210.8MMP1, ESR1, PGR, MMP2
14hyaluronic acid46 259.8IGF1R, MMP2, MMP1, DES
15raloxifene46 52 30 1211.8IGF1R, PGR, ESR1
16dihydrotestosterone46 30 25 1211.7IGF1R, DES, ESR1, PGR
1712-o-tetradecanoylphorbol 13-acetate468.7MMP2, MMP1, MTOR, DES
18trastuzumab46 52 1210.7IGF1R, VEGFC, ESR1, PGR
19glycogen46 259.7TSC2, TSC1, MTOR, IGF1R, DES
20vitamin a46 25 1210.6MMP1, MMP2, PGR, IGF1R
21gefitinib46 52 1210.6MMP2, MTOR, IGF1R, ESR1
22docetaxel46 52 62 1211.6ESR1, IGF1R, MTOR, PGR
23everolimus46 52 1210.4MTOR, TSC1, TSC2, IGF1R, ESR1
24ribonucleic acid468.4MMP1, VEGFC, MMP2, PGR, IGF1R
25matrigel468.3MTOR, IGF1R, VEGFC, MMP2, MMP1
26progestin468.3ESR1, MMP1, DES, IGF1R, PGR
27resveratrol46 62 25 1211.3ESR1, MMP2, MTOR, IGF1R, PGR
285fluorouracil468.3MTOR, IGF1R, PGR, ESR1, MMP2
29phosphatidylinositol468.2MTOR, TSC1, TSC2, MMP2, VEGFC, IGF1R
30glucose468.2TSC1, VEGFC, IGF1R, DES, MTOR, TSC2
31cycloheximide468.1IGF1R, MMP1, MMP2, ESR1, PGR
32pd 98,059468.0TSC1, MMP2, VEGFC, IGF1R, MMP1, MTOR
33steroid468.0DES, PGR, ESR1, TSC2, MTOR, IGF1R
34rapamycin468.0MMP1, TSC2, TSC1, IGF1R, MTOR, CCL26
35oxygen46 259.0DES, MTOR, IGF1R, VEGFC, TSC2, CCL26
36ly294002467.9IGF1R, VEGFC, ESR1, MMP2, MTOR, TSC2
37cysteine467.9MMP2, CCL26, MMP1, PGR, IGF1R, DES
38tyrosine467.8DES, MMP2, TSC2, TSC1, MTOR, VEGFC
39doxorubicin46 52 129.8PGR, ESR1, MTOR, IGF1R, MMP1, DES
40serine467.8IGF1R, MMP2, MMP1, TSC2, TSC1, MTOR
41genistein46 30 62 3 25 1212.7IGF1R, PGR, ESR1, MMP2, MMP1, MTOR
42dexamethasone46 52 30 1210.6VEGFC, PGR, MMP1, MTOR, IGF1R
43progesterone46 30 62 25 1211.5IGF1R, MMP1, MMP2, ESR1, PGR, VEGFC
44estradiol46 25 129.4DES, VEGFC, IGF1R, MTOR, MMP1, PGR
45calcium46 52 25 1210.0CCL26, VEGFC, MMP2, MMP1, DES, MTOR
46retinoic acid46 258.0MMP2, IGF1R, MTOR, MMP1, PGR, ESR1
47paraffin466.9ESR1, MMP2, TSC2, TSC1, MMP1, IGF1R
48testosterone46 62 25 129.8VEGFC, IGF1R, DES, MTOR, MMP2, MMP1
49estrogen466.7TSC2, DES, IGF1R, VEGFC, MTOR, MMP1
50vegf466.5ESR1, VEGFC, IGF1R, DES, PGR, MTOR

GO Terms for genes affiliated with Lymphangioleiomyomatosis

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet