LAM
MCID: LYM007
MIFTS: 74

Lymphangioleiomyomatosis (LAM) malady

Respiratory diseases, Immune diseases categories

Summaries for Lymphangioleiomyomatosis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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 nodesthere 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 angiomyolipoma, and has symptoms including asthenia/fatigue/weakness, uterine/uterus/fallopian tubes anomalies and atelectasia/pulmonary collapse. An important gene associated with Lymphangioleiomyomatosis is TSC1 (tuberous sclerosis 1), and among its related pathways are p70S6K Signaling and Inhibition of TSC complex formation by PKB. The compounds matrigel and alendronate have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related mouse phenotypes are muscle and tumorigenesis.

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

Description from OMIM:46 606690

Aliases & Classifications for Lymphangioleiomyomatosis

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Respiratory diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
lymphangioleiomyomatosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

lymphangioleiomyomatosis 8 9 42 21 46 10 44 48 60
lymphangiomyomatosis 8 21 44
lam 42 21 48
pulmonary lymphangioleiomyomatosis 8 60
lymphangio-myomatosis 42 22
lung lymphangioleiomyomatosis 8


External Ids:

Disease Ontology8 DOID:3319
MeSH34 D018192
NCIt39 C38153
OMIM46 606690
SNOMED-CT56 277844007
MESH via Orphanet35 D018192
ICD10 via Orphanet26 J98.4
SNOMED-CT via Orphanet57 73017001
UMLS via Orphanet61 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 194)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.1TSC2, TSC1, RHOD, MTOR, CCL26
2angiomyolipoma31.0TSC2, TSC1, ESR1, ACTC1, PGR, DES
3pneumothorax30.7TSC1
4leiomyoma30.3TSC2, ESR1, ACTC1, PGR, DES, S100A1
5meningioma30.3PGR, ESR1
6perivascular epithelioid cell tumor30.2TSC2, MLANA
7pulmonary fibrosis30.1MMP2, MMP1
8idiopathic pulmonary fibrosis30.1S100A1, MMP1, ACTC1
9hemangioma30.0ACTC1
10endometrial stromal sarcoma30.0DES, PGR, ACTC1, ESR1
11smooth muscle tumor30.0S100A1, DES, PGR, ACTC1, ESR1
12papillary carcinoma30.0S100A1, VEGFC, PGR, ACTC1, ESR1
13sarcoma30.0S100A1, MLANA, MTOR, DES, IGF1R, ACTC1
14leiomyomatosis29.8ESR1, PGR
15angiosarcoma29.8ACTC1, VEGFC
16kidney angiomyolipoma29.8MTOR, TSC1, TSC2
17epithelioid leiomyosarcoma29.8DES, ACTC1
18polycystic kidney disease29.8MTOR, TSC1, TSC2
19vascular disease29.8ESR1, MMP2
20leiomyosarcoma29.8S100A1, MLANA, DES, PGR, ACTC1
21papillary thyroid carcinoma29.8FIGF, VEGFC, S100A1
22ovarian cancer29.8MLANA, MTOR, RHOD, VEGFC, IGF1R, PGR
23melanoma29.7DES, RHOD, MTOR, MLANA, S100A1, PMEL
24amenorrhea10.4
25endosalpingiosis10.2
26perivascular tumor10.2
27opiate dependence10.1
28hepatitis10.1
29histiocytosis10.1
30mediastinitis10.1
31hepatic angiomyolipoma10.0
32hepatitis a10.0
33langerhans-cell histiocytosis10.0
34lymphedema10.0
35peritonitis10.0
36respiratory failure10.0
37sarcoidosis10.0
38tsc1-related lymphangioleiomyomatosis10.0
39lymphangioleiomyomatosis, somatic10.0
40kidney rhabdoid cancer10.0TSC2
41thyroid cancer10.0VEGFC
42kidney cancer10.0MTOR
43esophagitis10.0CCL26
44sertoli-leydig cell tumor10.0PGR
45cystadenoma10.0VEGFC
46syringoma10.0S100A1
47tuberous sclerosis complex10.0TSC2, TSC1
48glaucoma10.0MMP1
49fasciitis10.0ACTC1
50bladder carcinoma10.0TSC1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to lymphangioleiomyomatosis

Clinical Features for Lymphangioleiomyomatosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

606690

Symptoms:

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

Drugs & Therapeutics for Lymphangioleiomyomatosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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32MalaCards
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MalaCards organs/tissues related to Lymphangioleiomyomatosis:

32
Lung, Kidney, Smooth muscle, Lymph node, Liver, Brain, Skin, Uterus, Endothelial, Testes, Heart, T cells, Bone, Colon, Thyroid

Animal Models for Lymphangioleiomyomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.3IGF1R, MMP2, ACTC1, SRF, ESR1, TSC1
2MP:000200610.1IGF1R, FIGF, PGR, MMP2, ESR1, TSC1
3MP:000539010.0MTOR, IGF1R, PGR, SRF, TSC1
4MP:000538010.0TSC2, TSC1, ESR1, SRF, PGR, IGF1R
5MP:000537610.0PMEL, MTOR, DES, IGF1R, PGR, ACTC1
6MP:00028739.9S100A1, MTOR, RHEBL1, FIGF, PGR, MMP2
7MP:00030129.9PMEL, MLANA, MTOR, RHEBL1, PGR, SRF
8MP:00107719.9PMEL, IGF1R, TSC1, TSC2
9MP:00053859.9TSC2, S100A1, DES, VEGFC, IGF1R, FIGF
10MP:00053869.8S100A1, MTOR, DES, IGF1R, FIGF, PGR
11MP:00107689.7FIGF, IGF1R, VEGFC, DES, RHEBL1, MTOR

Publications for Lymphangioleiomyomatosis

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50PubMed
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Articles related to Lymphangioleiomyomatosis:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
The efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis. (23978644)
2013
2
Recurrent spontaneous pneumothorax in a 42 years old woman with pulmonary lymphangioleiomyomatosis: insights and pitfalls of the surgical treatment. (23390481)
2013
3
MicroRNA-21 is induced by rapamycin in a model of tuberous sclerosis (TSC) and lymphangioleiomyomatosis (LAM). (23555865)
2013
4
Farnesylthiosalicylic acid (salirasib) inhibits Rheb in TSC2-null ELT3 cells: a potential treatment for lymphangioleiomyomatosis. (21500191)
2012
5
Quantitative CT analysis of small pulmonary vessels in lymphangioleiomyomatosis. (22964373)
2012
6
Imaging features of lymphangioleiomyomatosis: diagnostic pitfalls. (21427352)
2011
7
Clinical features of lymphangioleiomyomatosis complicated by renal angiomyolipomas. (21325759)
2011
8
European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. (20044458)
2010
9
Retroperitoneal lymphangioleiomyomatosis: sonography, computed tomography, magnetic resonance imaging, and positron emission tomography with pathologic correlation. (21098857)
2010
10
The role of chemokines in migration of metastatic-like lymphangioleiomyomatosis cells. (20666708)
2010
11
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and clear-cell micronodules in a 39-year-old woman with tuberous sclerosis: a case report. (20667922)
2010
12
Predictors for clinical trial participation in the rare lung disease lymphangioleiomyomatosis. (19962873)
2010
13
Caesarean delivery under general anaesthesia for a woman with undiagnosed tuberous sclerosis complex and lymphangioleiomyomatosis. (19157370)
2009
14
Sirolimus treatment for recurrent lymphangioleiomyomatosis after lung transplantation. (19101258)
2009
15
Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. (19619804)
2009
16
Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. (17541983)
2008
17
Sirolimus amelioration of clinical symptoms of recurrent lymphangioleiomyomatosis after living-donor lobar lung transplantation. (18656809)
2008
18
Sirolimus ameliorated post lung transplant chylothorax in lymphangioleiomyomatosis. (19021963)
2008
19
Variability in the prevalence of acute bronchoresponsiveness in different populations of patients with lymphangioleiomyomatosis. (18628234)
2008
20
Lung transplantation for lymphangioleiomyomatosis: the French experience. (18724219)
2008
21
A 48-year-old woman with lymphangioleiomyomatosis. (17452658)
2007
22
Pulmonary lymphangioleiomyomatosis is easily mistaken for more common lung diseases. (17530132)
2007
23
Adrenal angiomyolipoma in lymphangioleiomyomatosis. (16586050)
2007
24
Cytologic findings of lymphangioleiomyomatosis in pleural effusion: a case report. (17718126)
2007
25
TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. (17975002)
2007
26
A clinico-pathologic presentation of a 23-year old-female with lymphangioleiomyomatosis and Wilm's tumor. (19610558)
2006
27
Lymphangioleiomyomatosis. (17138687)
2006
28
Anesthetic challenges in a patient with lymphangioleiomyomatosis complicated by myasthenia gravis. (16980167)
2006
29
Lymphangioleiomyomatosis. (16915145)
2006
30
Pulmonary lymphangioleiomyomatosis in a male patient with tuberous sclerosis complex. (16485546)
2005
31
In vitro studies of lymphangioleiomyomatosis. (16204585)
2005
32
Delayed enhancement of pelvic lymphangiomyoma associated with lymphangioleiomyomatosis on MR imaging (2005: 9b). (16370044)
2005
33
Should patients with lymphangioleiomyomatosis undergo screening for meningioma? (15516686)
2004
34
Pericardial effusion in a patient with lymphangioleiomyomatosis. (15307591)
2004
35
Renal smooth muscle tumor with features of lymphangioleiomyomatosis. Problems in histological diagnosis. (14646445)
2003
36
Lymphangioleiomyomatosis: an unusual cause of dyspnea in young women. (12014458)
2002
37
Lymphangioleiomyomatosis. (16088601)
2002
38
Lymphangioleiomyomatosis. (11202475)
2001
39
High levels of exhaled nitric oxide (NO) and NO synthase III expression in lesional smooth muscle in lymphangioleiomyomatosis. (11306434)
2001
40
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. (10631194)
2000
41
Hyperplasia of type II pneumocytes in pulmonary lymphangioleiomyomatosis. (11079017)
2000
42
Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis. (11229634)
2000
43
Clinical and molecular epidemiology of lymphangioleiomyomatosis and pulmonary pathology in tuberous sclerosis]. (10939121)
2000
44
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. (10823953)
2000
45
Decline in lung function in lymphangioleiomyomatosis: relation to menopause and progesterone treatment. (10430739)
1999
46
Successful treatment of pulmonary lymphangioleiomyomatosis with progestins: a case report. (9925099)
1999
47
Pulmonary lymphangioleiomyomatosis. (10999175)
1999
48
Immunohistochemical study of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in pulmonary lymphangioleiomyomatosis (LAM). (9308732)
1997
49
When to suspect and how to diagnose pulmonary lymphangioleiomyomatosis. (9424398)
1996
50
Lymphangioleiomyomatosis: clinical course. (8193622)
1994

Genetic Variations for Lymphangioleiomyomatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Lymphangioleiomyomatosis:

62
id Symbol AA change Variation ID SNP ID
1TSC2p.Arg611GlnVAR_005650

Expression for genes affiliated with Lymphangioleiomyomatosis

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1BioGPS, 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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51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 52R&D Systems
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Pathways related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4IGF1R
210.4TSC2, TSC1
3
Hide members
10.3FIGF, VEGFC
410.3MTOR, TSC1, TSC2
5
Hide members
10.3TSC2, TSC1, MTOR
610.3TSC2, TSC1, MTOR
710.3TSC2, TSC1, IGF1R
8
Cell adhesion ECM remodeling
Hide members
10.3MMP1, MMP2, IGF1R
910.3IGF1R, MMP2, ESR1
10
Hide members
10.2TSC2, TSC1, MMP1, MTOR
1110.2MTOR, ESR1, TSC1, TSC2
12
Translation Insulin regulation of translation
Hide members
10.2MTOR, IGF1R, TSC1, TSC2
13
Hide members
10.2TSC2, TSC1, IGF1R, MTOR
14
Hide members
10.2MTOR, IGF1R, TSC1, TSC2
15
Hide members
10.2TSC2, TSC1, IGF1R, MTOR
1610.2MTOR, IGF1R, TSC1, TSC2
17
Hide members
10.2MTOR, PGR, ESR1, TSC2
18
Development Endothelin-1/EDNRA signaling
Hide members
10.2TSC2, ESR1, MMP2, MTOR
19
Transcription Androgen Receptor nuclear signaling
Hide members
10.2MTOR, IGF1R, MMP2, TSC2
20
Hide members
10.2TSC2, TSC1, FIGF, VEGFC
2110.2MTOR, IGF1R, MMP2, ESR1
2210.2MTOR, MMP1, ESR1, TSC1, TSC2
2310.1MTOR, IGF1R, SRF, TSC1, TSC2
2410.1MTOR, VEGFC, IGF1R, FIGF, TSC1, TSC2
25
Hide members
10.1CCL26, VEGFC, IGF1R, FIGF, TSC1, TSC2
2610.1MTOR, VEGFC, IGF1R, FIGF, MMP2, MMP1
27
Hide members
10.0VEGFC, IGF1R, FIGF, MMP2, MMP1, SRF
28
Hide members
9.9MTOR, RHOD, VEGFC, IGF1R, FIGF, PGR
29
Hide members
9.9CCL26, DES, VEGFC, IGF1R, FIGF, SRF

Compounds for genes affiliated with Lymphangioleiomyomatosis

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1matrigel4410.6MTOR, RHOD, MMP1, ACTC1
2alendronate44 49 1112.6RHOD, MMP2, MMP1, ESR1
3trastuzumab44 49 1112.6VEGFC, IGF1R, PGR, ESR1
4glycogen44 2411.6MTOR, IGF1R, ACTC1, TSC1, TSC2
5progestin4410.6DES, IGF1R, PGR, MMP1, ESR1
6mucicarmine4410.5ACTC1, DES, S100A1
7actomyosin4410.5S100A1, RHOD, ACTC1, SRF
8vitamin a44 11 2412.5SRF, MMP1, MMP2, IGF1R
9lapatinib44 49 1112.5ESR1, PGR, IGF1R
10resveratrol44 59 11 2413.5ESR1, MMP2, PGR, IGF1R, MTOR
11dexamethasone44 49 28 1113.5MTOR, VEGFC, IGF1R, SRF
12dihydrotestosterone44 28 11 2413.5DES, IGF1R, PGR, SRF, ESR1
13pge24410.5RHOD, VEGFC, IGF1R, MMP2
14hematoxylin4410.5S100A1, MLANA, DES, MMP1, ACTC1
15creatinine4410.5IGF1R, MMP2, MMP1, ACTC1, SRF
16clomiphene citrate4410.5IGF1R, PGR, ESR1
17gefitinib44 49 1112.5ESR1, MMP2, IGF1R, MTOR
185fluorouracil4410.5MTOR, IGF1R, PGR, MMP2, SRF, ESR1
19ribonucleic acid4410.5VEGFC, IGF1R, PGR, MMP2, MMP1, ACTC1
20tibolone4410.5PGR, MMP1, ESR1
21methotrexate44 49 1112.5ESR1, SRF, MMP1, MMP2, PGR
22daidzein4410.5IGF1R, SRF, ESR1
23steroid4410.4MLANA, MTOR, DES, ACTC1, ESR1, TSC2
24doxorubicin44 49 1112.4MTOR, DES, IGF1R, PGR, MMP1, ESR1
25rapamycin4410.4CCL26, MTOR, RHOD, IGF1R, MMP1, TSC1
26pd 98,0594410.4MTOR, RHOD, VEGFC, IGF1R, MMP2, MMP1
27ly2940024410.4MTOR, RHOD, VEGFC, IGF1R, MMP2, ESR1
28Ethynodiol Diacetate1110.4PGR, ESR1
29glucose4410.4VEGFC, IGF1R, ACTC1, SRF, TSC1, TSC2
30estradiol44 11 2412.4MTOR, DES, VEGFC, IGF1R, PGR, MMP1
31phxa 854410.3MMP2, MMP1
32genistein44 28 59 2 11 2415.3MTOR, RHOD, IGF1R, PGR, MMP2, MMP1
33phosphatidylinositol4410.3MTOR, RHOD, VEGFC, IGF1R, MMP2, SRF
34lactate4410.3MLANA, DES, IGF1R, MMP2, MMP1, SRF
3512-o-tetradecanoylphorbol 13-acetate4410.3SRF, MMP1, MMP2, DES, MTOR
36levonorgestrel44 59 28 1113.3ESR1, MMP1, PGR
37serine4410.3RHOD, DES, MMP2, MMP1, SRF, TSC1
38cysteine4410.2CCL26, S100A1, RHOD, DES, IGF1R, PGR
39ici 1643844410.2PGR, ESR1
40threonine4410.2MTOR, RHOD, DES, IGF1R, SRF, TSC1
41tamoxifen44 49 28 1113.2MTOR, IGF1R, FIGF, PGR, ESR1
42testosterone44 59 11 2413.2IGF1R, VEGFC, DES, MTOR, PGR, MMP2
43oxygen44 2411.2CCL26, MTOR, RHOD, DES, VEGFC, IGF1R
44retinoic acid44 2411.1S100A1, MTOR, DES, VEGFC, IGF1R, PGR
45progesterone44 59 28 11 2414.1S100A1, DES, VEGFC, IGF1R, FIGF, PGR
46paraffin4410.1S100A1, TSC2, TSC1, ESR1, ACTC1, MMP1
47tyrosine4410.0VEGFC, DES, RHOD, MTOR, S100A1, IGF1R
48calcium44 49 11 2413.0CCL26, S100A1, MTOR, RHOD, DES, VEGFC
49taxane4410.0ESR1, PGR, MTOR
50vegf4410.0MTOR, RHOD, TSC2, TSC1, ESR1, SRF

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:03359610.4TSC2, TSC1
2membraneGO:0160209.7TSC2, TSC1, ESR1, FIGF, IGF1R, VEGFC

Biological processes related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.5TSC2, TSC1, MTOR
2positive chemotaxisGO:05091810.4TSC2, FIGF, VEGFC
3positive regulation of mast cell chemotaxisGO:06075410.4FIGF, VEGFC
4insulin receptor signaling pathwayGO:00828610.4MTOR, IGF1R, TSC1, TSC2
5protein heterooligomerizationGO:05129110.4IGF1R, TSC1, TSC2
6insulin-like growth factor receptor signaling pathwayGO:04800910.3TSC2, IGF1R
7cardiac myofibril assemblyGO:05500310.2SRF, ACTC1
8signal transductionGO:00716510.1CCL26, MTOR, VEGFC, IGF1R, PGR, ESR1
9TOR signaling cascadeGO:03192910.0RHEBL1, MTOR

Molecular functions related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor receptor 3 bindingGO:04318510.0FIGF, VEGFC
2protein bindingGO:0055159.5S100A1, MLANA, MTOR, DES, VEGFC, IGF1R

Products for genes affiliated with Lymphangioleiomyomatosis

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  • Antibodies
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Sources for Lymphangioleiomyomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet