MCID: LYM007
MIFTS: 75

Lymphangioleiomyomatosis malady

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

Summaries for Lymphangioleiomyomatosis

About this section


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 based summary: Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis and angiomyolipoma, 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 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:23 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

About this section
Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 24GTR, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Lymphangioleiomyomatosis, Aliases & Descriptions:

Name: Lymphangioleiomyomatosis 47 10 11 43 23 12 45 49 62
Lymphangiomyomatosis 10 23 45
Lam 43 23 49
Pulmonary Lymphangioleiomyomatosis 10 62
 
Lymphangio-Myomatosis 43 24
Lymphangioleiomyomatosis, Somatic 47
Lung Lymphangioleiomyomatosis 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 606690
Disease Ontology10 DOID:3319
MeSH35 D018192
NCIt40 C38153
SNOMED-CT57 277844007
Orphanet49 538
MESH via Orphanet36 D018192
ICD10 via Orphanet28 J98.4
UMLS via Orphanet63 C0751674

Related Diseases for Lymphangioleiomyomatosis

About this section

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 145)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.3TSC2, TSC1, CCL26, MTOR
2angiomyolipoma31.0DES, MTOR, CCL26, TSC1, TSC2, ESR1
3leiomyoma30.5DES, PGR, ESR1, TSC2
4perivascular epithelioid cell tumor30.4TSC2
5endometrial stromal sarcoma30.1DES, PGR, ESR1
6sarcoma30.1MTOR, IGF1R, DES
7tuberous sclerosis-130.0TSC1, TSC2
8polycystic kidney disease29.9TSC2, MTOR
9leiomyomatosis29.9PGR, ESR1
10leiomyosarcoma29.9PGR, DES
11smooth muscle tumor29.9DES, PGR, ESR1
12papillary carcinoma29.9ESR1, PGR, VEGFC
13melanoma29.7DES, IGF1R, VEGFC, MMP2, MMP1, TSC2
14pneumothorax10.5
15spontaneous pneumothorax10.4
16endotheliitis10.3
17endosalpingiosis10.3
18chylous ascites10.3
19pulmonary function10.2
20hepatitis10.2
21pulmonary fibrosis10.2
22histiocytosis10.2
23mediastinitis10.2
24benign metastasizing leiomyoma10.2
25hemangioma10.1
26lymphedema10.1
27langerhans-cell histiocytosis10.1
28hepatic angiomyolipoma10.1
29peritonitis10.1
30respiratory failure10.1
31tsc1-related lymphangioleiomyomatosis10.1
32blindness10.1
33cerebral meningioma10.1PGR
34alexander disease10.1DES
35cystadenoma10.1VEGFC
36fibromatosis10.0PGR, DES
37west syndrome10.0TSC2, TSC1
38cowden disease10.0TSC1, TSC2
39spindle cell carcinoma10.0DES, PGR
40ganglioglioma10.0TSC2, TSC1
41sertoli cell tumor10.0DES, PGR
42fibroma10.0TSC1, DES
43sex cord-gonadal stromal tumor10.0PGR, DES
44malignant mixed mullerian tumor10.0PGR, DES
45tongue cancer10.0VEGFC, MMP2
46thoracic aortic aneurysm10.0MMP2, MMP1
47peripheral primitive neuroectodermal tumor10.0IGF1R
48fibromatosis, gingival10.0MMP2, MMP1
49neurofibromatosis10.0TSC2, TSC1
50conjunctivochalasis10.0MMP2, MMP1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to lymphangioleiomyomatosis

Symptoms for Lymphangioleiomyomatosis

About this section


Clinical features from OMIM:

606690

Symptoms:

 49 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Lymphangioleiomyomatosis

Search NIH Clinical Center for Lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

About this section

Genetic tests related to Lymphangioleiomyomatosis:

id Genetic test Affiliating Genes
1 Lymphangiomyomatosis24

Anatomical Context for Lymphangioleiomyomatosis

About this section

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

33
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

About this section

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

37 (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

About this section

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

About this section

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:

7
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

About this section

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for genes affiliated with Lymphangioleiomyomatosis

About this section

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
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
8.9MTOR, TSC2, IGF1R
12
Show member pathways
Signal transduction PTEN pathway60
8.9MTOR, TSC2, IGF1R
13
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.9MMP1, TSC2, TSC1, MTOR
148.8MTOR, TSC1, TSC2, ESR1
15
Show member pathways
8.8MTOR, TSC2, ESR1, PGR
16
Show member pathways
8.8IGF1R, MMP2, MMP1
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
228.6IGF1R, TSC2, TSC1, MTOR
23
Show member pathways
8.6IGF1R, TSC2, TSC1, MTOR
24
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.6IGF1R, 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

About this section

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 30 1312.3PGR, MMP1, ESR1
9alendronate45 51 1311.2MMP1, MMP2, ESR1
103-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.2IGF1R, DES, MMP2
11lapatinib45 51 1311.1ESR1, PGR, IGF1R
12clomiphene citrate459.1IGF1R, PGR, ESR1
13methotrexate51 45 1310.8MMP1, ESR1, PGR, MMP2
14hyaluronic acid45 269.8IGF1R, MMP2, MMP1, DES
15raloxifene45 51 30 1311.8IGF1R, PGR, ESR1
16dihydrotestosterone45 30 26 1311.7IGF1R, DES, ESR1, PGR
1712-o-tetradecanoylphorbol 13-acetate458.7MMP2, MMP1, MTOR, DES
18trastuzumab45 51 1310.7IGF1R, VEGFC, ESR1, PGR
19glycogen45 269.7TSC2, TSC1, MTOR, IGF1R, DES
20vitamin a45 26 1310.6MMP1, MMP2, PGR, IGF1R
21gefitinib45 51 1310.6MMP2, MTOR, IGF1R, ESR1
22docetaxel45 51 61 1311.6ESR1, IGF1R, MTOR, PGR
23everolimus45 51 1310.4MTOR, 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 26 1311.3ESR1, 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 269.0DES, 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 51 139.8PGR, ESR1, MTOR, IGF1R, MMP1, DES
40serine457.8IGF1R, MMP2, MMP1, TSC2, TSC1, MTOR
41genistein45 30 61 3 26 1312.7IGF1R, PGR, ESR1, MMP2, MMP1, MTOR
42dexamethasone45 51 30 1310.6VEGFC, PGR, MMP1, MTOR, IGF1R
43progesterone45 30 61 26 1311.5IGF1R, MMP1, MMP2, ESR1, PGR, VEGFC
44estradiol45 26 139.4DES, VEGFC, IGF1R, MTOR, MMP1, PGR
45calcium45 51 26 1310.0CCL26, VEGFC, MMP2, MMP1, DES, MTOR
46retinoic acid45 268.0MMP2, IGF1R, MTOR, MMP1, PGR, ESR1
47paraffin456.9ESR1, MMP2, TSC2, TSC1, MMP1, IGF1R
48testosterone45 61 26 139.8VEGFC, IGF1R, DES, MTOR, MMP2, MMP1
49estrogen456.8TSC2, DES, IGF1R, VEGFC, MTOR, MMP1
50vegf456.5ESR1, VEGFC, IGF1R, DES, PGR, MTOR

GO Terms for genes affiliated with Lymphangioleiomyomatosis

About this section

Cellular components related to Lymphangioleiomyomatosis according to GeneCards/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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

Products for genes affiliated with Lymphangioleiomyomatosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lymphangioleiomyomatosis

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet