MCID: LYM007
MIFTS: 68

Lymphangioleiomyomatosis

Categories: Genetic diseases, Rare diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Lymphangioleiomyomatosis

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 53 12 72 49 24 55 71 36 13 51 14 69
Lymphangiomyomatosis 53 12 72 24 28 51
Lam 53 49 24 55 71 59
Pulmonary Lymphangioleiomyomatosis 12 69
Lymphangioleiomyomatosis, Somatic 53
Lung Lymphangioleiomyomatosis 12
Lymphangio-Myomatosis 49

Characteristics:

Orphanet epidemiological data:

55
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),1-9/1000000 (Netherlands); Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare respiratory diseases


Summaries for Lymphangioleiomyomatosis

NIH Rare Diseases : 49 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 pneumothorax, and has symptoms including fatigue, dyspnea and fever. An important gene associated with Lymphangioleiomyomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and kidney, and related phenotypes are Decreased viability with paclitaxel and Decreased viability with paclitaxel

Genetics Home Reference : 24 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. Lymph fluid helps exchange immune cells, proteins, and other substances between the blood and tissues.

UniProtKB/Swiss-Prot : 71 Lymphangioleiomyomatosis: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.

PubMed Health : 59
About lam: LAM, or lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), is a rare lung disease that mostly affects women of childbearing age.In LAM, abnormal, muscle-like cells begin to grow out of control in certain organs or tissues, especially the lungs, lymph nodes, and kidneys.Over time, these LAM cells can destroy the normal lung tissue. As a result, air can’t move freely in and out of the lungs. In some cases, this means the lungs can’t supply the body’s other organs with enough oxygen.

Wikipedia : 72 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

Description from OMIM: 606690

Related Diseases for Lymphangioleiomyomatosis

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

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 31.0 MTOR RPS6KB1 TSC1 TSC2
2 pneumothorax 30.6 ELN MMP2 PGR TSC1
3 leiomyoma 30.4 DES ESR1 PGR
4 perivascular epithelioid cell tumor 30.4 DES PGR TSC2
5 benign metastasizing leiomyoma 30.3 DES PGR
6 angiomyolipoma 30.3 DES ESR1 MTOR PGR TSC1 TSC2
7 lymphangiomatosis 30.1 DES PGR
8 smooth muscle tumor 29.9 DES ESR1 PGR
9 endometrial stromal sarcoma 29.9 DES ESR1 MMP2 PGR
10 tuberous sclerosis 2 29.9 MTOR TSC1 TSC2
11 leiomyoma, uterine 29.6 ESR1 MMP1 MMP2 PGR
12 renal cell carcinoma, nonpapillary 29.5 MMP2 MTOR TSC1 TSC2
13 tuberous sclerosis 1 11.3
14 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.9
15 adult hepatocellular carcinoma 10.6 TSC1 TSC2
16 intravenous leiomyomatosis 10.5 DES ESR1
17 vulvar syringoma 10.5 ESR1 PGR
18 vestibular gland benign neoplasm 10.5 ESR1 PGR
19 lung leiomyoma 10.5 ESR1 PGR
20 bartholin's gland adenoma 10.5 ESR1 PGR
21 glassy cell carcinoma of the cervix 10.5 ESR1 PGR
22 vulvar benign neoplasm 10.5 ESR1 PGR
23 trigonitis 10.5 ESR1 PGR
24 multilocular clear cell renal cell carcinoma 10.5 TSC1 TSC2
25 vulvar leiomyoma 10.5 ESR1 PGR
26 predominantly cortical thymoma 10.5 ESR1 PGR
27 breast medullary carcinoma 10.5 ESR1 PGR
28 breast scirrhous carcinoma 10.5 ESR1 PGR
29 epulis 10.5 DES PGR
30 progesterone resistance 10.4 ESR1 PGR
31 progesterone-receptor positive breast cancer 10.4 ESR1 PGR
32 cribriform carcinoma 10.4 ESR1 PGR
33 oncocytic breast carcinoma 10.4 ESR1 PGR
34 senile ectropion 10.4 ELN MMP2
35 bartholin's gland benign neoplasm 10.4 ESR1 PGR
36 endometrial squamous cell carcinoma 10.4 ESR1 PGR
37 gastric signet ring cell adenocarcinoma 10.4 ESR1 PGR
38 spastic entropion 10.4 MMP1 MMP2
39 reproductive organ benign neoplasm 10.4 ESR1 PGR TSC2
40 uterine benign neoplasm 10.4 ESR1 PGR TSC2
41 breast papillary carcinoma 10.4 ESR1 PGR TSC2
42 adenosarcoma 10.4 DES ESR1 PGR
43 endometrial mucinous adenocarcinoma 10.4 ESR1 PGR
44 subependymal glioma 10.4 MTOR TSC1 TSC2
45 kidney angiomyolipoma 10.4 MTOR TSC1 TSC2
46 benign ependymoma 10.4 MTOR TSC1 TSC2
47 adenoid basal cell carcinoma 10.4 ESR1 PGR
48 focal cortical dysplasia, type ii 10.4 MTOR TSC1 TSC2
49 kidney benign neoplasm 10.3 MTOR TSC1 TSC2
50 congenital lymphedema 10.3 VEGFC VEGFD

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis

Symptoms & Phenotypes for Lymphangioleiomyomatosis

Clinical features from OMIM:

606690

Human phenotypes related to Lymphangioleiomyomatosis:

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 occasional (7.5%) Occasional (29-5%) HP:0012378
2 dyspnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002094
3 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
4 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
5 hemoptysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002105
6 chest pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0100749
7 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
8 macule 55 31 occasional (7.5%) Occasional (29-5%) HP:0012733
9 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
10 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
11 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
13 emphysema 55 31 frequent (33%) Frequent (79-30%) HP:0002097
14 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
15 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
16 hematuria 55 31 frequent (33%) Frequent (79-30%) HP:0000790
17 multiple renal cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0005562
18 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
19 atelectasis 55 31 frequent (33%) Frequent (79-30%) HP:0100750
20 cough 55 31 hallmark (90%) Very frequent (99-80%) HP:0012735
21 abnormality of skin pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001000
22 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
23 abnormality of female internal genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000008
24 abnormal urinary color 55 31 occasional (7.5%) Occasional (29-5%) HP:0012086
25 retinal hamartoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0009594
26 pneumothorax 55 31 frequent (33%) Frequent (79-30%) HP:0002107
27 chylopericardium 55 31 occasional (7.5%) Occasional (29-5%) HP:0011852
28 shagreen patch 55 31 occasional (7.5%) Occasional (29-5%) HP:0009721
29 pulmonary infiltrates 55 31 hallmark (90%) Very frequent (99-80%) HP:0002113
30 renal angiomyolipoma 55 31 frequent (33%) Frequent (79-30%) HP:0006772
31 chylothorax 55 31 frequent (33%) Frequent (79-30%) HP:0010310
32 pulmonary lymphangiomyomatosis 55 31 frequent (33%) Frequent (79-30%) HP:0012798
33 ungual fibroma 55 31 frequent (33%) Frequent (79-30%) HP:0100804
34 abnormality of the lymphatic system 55 Very frequent (99-80%)
35 renal neoplasm 55 Occasional (29-5%)
36 restrictive lung disease 55 Very frequent (99-80%)
37 restrictive ventilatory defect 31 hallmark (90%) HP:0002091

GenomeRNAi Phenotypes related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
2 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 TSC2 VEGFC VEGFD TSC1 MMP14 DES
2 homeostasis/metabolism MP:0005376 10.34 TSC2 VEGFC VEGFD TSC1 CTSK MMP1
3 cellular MP:0005384 10.26 TSC1 TSC2 SRF CTSK MMP14 DES
4 behavior/neurological MP:0005386 10.25 VEGFD TSC1 TSC2 SRF ESR1 DES
5 growth/size/body region MP:0005378 10.22 TSC1 TSC2 SRF VEGFD ESR1 MMP2
6 immune system MP:0005387 10.18 VEGFC VEGFD CTSK MMP1 MMP14 ESR1
7 mortality/aging MP:0010768 10.18 TSC2 SRF VEGFC VEGFD TSC1 MMP14
8 embryo MP:0005380 10.16 TSC1 TSC2 SRF MMP14 ESR1 PGR
9 hematopoietic system MP:0005397 10.16 TSC2 SRF ESR1 MMP2 CTSK MMP14
10 endocrine/exocrine gland MP:0005379 10.15 TSC1 TSC2 SRF ESR1 CTSK MMP14
11 muscle MP:0005369 10.02 TSC1 MMP14 DES ESR1 MMP2 MTOR
12 neoplasm MP:0002006 9.86 TSC2 VEGFD TSC1 MMP1 ESR1 MMP2
13 normal MP:0002873 9.81 TSC2 SRF VEGFD MMP2 MMP14 ESR1
14 respiratory system MP:0005388 9.5 TSC1 SRF ESR1 CTSK MMP14 MTOR
15 skeleton MP:0005390 9.28 TSC1 SRF ESR1 MMP2 CTSK MMP14

Drugs & Therapeutics for Lymphangioleiomyomatosis

PubMedHealth treatment related to Lymphangioleiomyomatosis: 59

Currently, no treatment is available to stop the growth of the cysts and cell clusters that occur in LAM. Most treatments for LAM are aimed at easing symptoms and preventing complications.The main treatments are:Medicines to improve air flow in the lungs and reduce wheezing Oxygen therapy Procedures to remove fluid from the chest or abdomen and stop it from building up againProcedures to shrink angiomyolipomas (AMLs) Lung transplant Hormone therapy

Drugs for Lymphangioleiomyomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Antimalarials Phase 4,Phase 1
5 Antiparasitic Agents Phase 4,Phase 1
6 Antiprotozoal Agents Phase 4,Phase 1
7
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
10 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
11 Antifungal Agents Phase 3,Phase 2,Phase 1
12 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
13
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
14
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
15
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
16
Menthol Approved Phase 2 2216-51-5 16666
17
Nintedanib Approved Phase 2 656247-17-5 56843413
18
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
21
Saracatinib Investigational Phase 2,Phase 1 379231-04-6
22 Aromatase Inhibitors Phase 2
23 Estrogen Antagonists Phase 2
24 Estrogens Phase 2
25 Hormone Antagonists Phase 2
26 Hormones Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
28 Steroid Synthesis Inhibitors Phase 2
29 Antineoplastic Agents, Hormonal Phase 2
30 Gastrointestinal Agents Phase 2
31 Antirheumatic Agents Phase 2,Phase 1
32 Adrenergic Agents Phase 2
33 Adrenergic Agonists Phase 2
34 Adrenergic beta-2 Receptor Agonists Phase 2
35 Adrenergic beta-Agonists Phase 2
36 Albuterol Phase 2
37 Anti-Asthmatic Agents Phase 2
38 Autonomic Agents Phase 2
39 Bronchodilator Agents Phase 2
40 Neurotransmitter Agents Phase 2
41 Peripheral Nervous System Agents Phase 2
42 Respiratory System Agents Phase 2
43 Tocolytic Agents Phase 2
44 Liver Extracts Phase 2
45 Anticholesteremic Agents Phase 1, Phase 2
46 Antimetabolites Phase 1, Phase 2
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
48 Hypolipidemic Agents Phase 1, Phase 2
49 Lipid Regulating Agents Phase 1, Phase 2
50 Imatinib Mesylate Phase 1, Phase 2 123596

Interventional clinical trials:

(show all 34)

# Name Status NCT ID Phase Drugs
1 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 Efficacy and Safety of Sirolimus for Treating Lymphangioleiomyomatosis (LAM) Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
3 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
4 Multicenter Interventional Lymphangioleiomyomatosis (LAM) Early Disease Trial Not yet recruiting NCT03150914 Phase 3 Sirolimus
5 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
6 Trial of Aromatase Inhibition in Lymphangioleiomyomatosis Completed NCT01353209 Phase 2 Letrozole;Placebo
7 A Study to Determine the Effectiveness of Escalating Doses of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2 Everolimus;Everolimus;Everolimus
8 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
9 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
10 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
11 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
12 Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 2 albuterol inhaler;albuterol nebulizer
13 A Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2 Nintedanib
14 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
15 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
16 LAM Pilot Study With Imatinib Mesylate Recruiting NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
17 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Recruiting NCT02484664 Phase 2 Celecoxib
18 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial Not yet recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
19 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
20 Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis Completed NCT01687179 Phase 1 sirolimus and hydroxychloroquine
21 Pulmonary Rehabilitation in Lymphangioleiomyomatosis Completed NCT02009241
22 Pulmonary Hypertension in Lymphangioleiomyomatosis Completed NCT00960895
23 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
24 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
25 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
26 Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases Completed NCT00366509
27 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
28 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892
29 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
30 Study of the Disease Process of Lymphangioleiomyomatosis Recruiting NCT00001465
31 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
32 Safety and Durability of Sirolimus for Treatment of LAM Recruiting NCT02432560 Sirolimus;Everolimus
33 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Recruiting NCT02859194
34 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

Genetic tests related to Lymphangioleiomyomatosis:

# Genetic test Affiliating Genes
1 Lymphangiomyomatosis 28 TSC1 TSC2

Anatomical Context for Lymphangioleiomyomatosis

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

38
Lung, Lymph Node, Kidney, Smooth Muscle, Liver, Brain, Endothelial

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 659)
# Title Authors Year
1
Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356556 )
2018
2
Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis. ( 29406234 )
2018
3
Pulmonary lymphangioleiomyomatosis and fertility treatment. ( 29228355 )
2018
4
Chylothorax in a 32-Year-Old Patient with Lymphangioleiomyomatosis after Bilateral Lung Transplant. ( 29408242 )
2018
5
Successful treatment of a patient with chyluria due to lymphangioleiomyomatosis using sirolimus. ( 29349035 )
2018
6
The 10,000-Piece Puzzle of Lymphangioleiomyomatosis. ( 29406212 )
2018
7
Reply to: Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356560 )
2018
8
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
9
Rapamycin for lymphangioleiomyomatosis: optimal timing and optimal dosage. ( 29438097 )
2018
10
Emerging biomarkers of lymphangioleiomyomatosis. ( 29171770 )
2018
11
Transudative chylothorax in a patient with lymphangioleiomyomatosis. ( 29062682 )
2017
12
Additional Octreotide Therapy to Sirolimus Achieved a Decrease in Sirolimus-refractory Chylous Effusion Complicated with Lymphangioleiomyomatosis. ( 29021448 )
2017
13
An extrapulmonary manifestation of lymphangioleiomyomatosis: A rare case report. ( 29132117 )
2017
14
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017
15
Pelvic lymphangioleiomyomatosis treated successfully with everolimus: Two case reports with literature review. ( 28272193 )
2017
16
CA-125 in Disease Progression and Treatment of Lymphangioleiomyomatosis. ( 28576630 )
2017
17
Durability of Sirolimus for Lymphangioleiomyomatosis. ( 29208258 )
2017
18
Experience of Lung Transplantation in Patients with Lymphangioleiomyomatosis at a Brazilian Reference Centre. ( 28823029 )
2017
19
Pelvic lymphangioleiomyomatosis diagnosed by FNA of cyst fluid. ( 29218750 )
2017
20
Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. ( 28830860 )
2017
21
Pleuroperitoneal Denver shunt insertion for the treatment of refractory chylothorax in a patient with tuberous sclerosis complex and lymphangioleiomyomatosis. ( 29224204 )
2017
22
Angiomyomatous Hamartoma of Lymph Nodes, Revisited: Clinico-pathologic Study of 21 Cases, Emphasizing Its Distinction from Lymphangioleiomyomatosis of Lymph Nodes. ( 28899738 )
2017
23
Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story. ( 28643793 )
2017
24
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. ( 28613922 )
2017
25
Long-Term Effect of Sirolimus on Serum VEGF-D Levels in Patients with Lymphangioleiomyomatosis. ( 28533049 )
2017
26
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
27
Insulin growth factor binding protein 2 mediates the progression of lymphangioleiomyomatosis. ( 28410230 )
2017
28
Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings. ( 28584685 )
2017
29
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? ( 28754097 )
2017
30
Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guideline. ( 29140122 )
2017
31
Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method. ( 28427470 )
2017
32
Reply to Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288285 )
2017
33
Cathepsin K in Lymphangioleiomyomatosis: LAM Cell-Fibroblast Interactions Enhance Protease Activity by Extracellular Acidification. ( 28623674 )
2017
34
Lung function response and side effects to rapamycin for lymphangioleiomyomatosis: a prospective national cohort study. ( 28993539 )
2017
35
Reprogramming patient-derived tumor cells generates model cell lines for tuberous sclerosis-associated lymphangioleiomyomatosis. ( 29344553 )
2017
36
Risk factors for stomatitis in patients with lymphangioleiomyomatosis during treatment with sirolimus: A multicenter investigator-initiated prospective study. ( 28752672 )
2017
37
Lymphangioleiomyomatosis (LAM). ( 28289456 )
2017
38
Lymphangioleiomyomatosis: A Monogenic Model of Malignancy. ( 28099079 )
2017
39
Metabolic Impact of Rapamycin (Sirolimus) and B-Estradiol Using Mouse Embryonic Fibroblasts as a Model for Lymphangioleiomyomatosis. ( 28577037 )
2017
40
A Phase II Clinical Trial of an Aromatase Inhibitor for Postmenopausal Women with Lymphangioleiomyomatosis. ( 28570161 )
2017
41
Computed tomography lymphangiography findings in 27 cases of lymphangioleiomyomatosis. ( 28132530 )
2017
42
Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288282 )
2017
43
Summary for Clinicians: Lymphangioleiomyomatosis Diagnosis and Management Clinical Practice Guideline. ( 28665705 )
2017
44
Lymphangioleiomyomatosis: an explosive presentation of a rare disease. ( 28616248 )
2017
45
Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-DubAc syndrome. ( 29220357 )
2017
46
Active Surveillance of Nonfatty Renal Masses in Patients With Lymphangioleiomyomatosis: Use of CT Features and Patterns of Growth to Differentiate Angiomyolipoma From Renal Cancer. ( 28678574 )
2017
47
The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. ( 28096282 )
2017
48
A Novel Quantitative Computed Tomographic Analysis Suggests How Sirolimus Stabilizes Progressive Air Trapping in Lymphangioleiomyomatosis. ( 26799509 )
2016
49
Minireview: Lymphangioleiomyomatosis (LAM): The "Other" Steroid-Sensitive Cancer. ( 27409646 )
2016
50
Lymphangioleiomyomatosis. ( 27514586 )
2016

Variations for Lymphangioleiomyomatosis

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

71
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Arg611Gln VAR_005650 rs28934872

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
2 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
3 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
4 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
5 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
6 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
7 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
8 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
9 TSC2 NM_000548.4(TSC2): c.3442C> T (p.Gln1148Ter) single nucleotide variant Pathogenic rs45477491 GRCh37 Chromosome 16, 2130210: 2130210
10 TSC1 NM_000368.4(TSC1): c.495C> A (p.Cys165Ter) single nucleotide variant Pathogenic rs118203388 GRCh37 Chromosome 9, 135798748: 135798748

Expression for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for Lymphangioleiomyomatosis

Pathways related to Lymphangioleiomyomatosis according to KEGG:

36
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 mTOR signaling pathway hsa04150
3 Insulin signaling pathway hsa04910

Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ELN ESR1 MTOR MYH10 SRF TSC1
2
Show member pathways
13.21 ESR1 RPS6KB1 TSC1 TSC2 VEGFC VEGFD
3
Show member pathways
12.94 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
4
Show member pathways
12.84 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
5
Show member pathways
12.67 CTSK ELN MMP1 MMP14 MMP2
6
Show member pathways
12.55 MMP14 MMP2 MTOR RPS6KB1 TSC2
7 12.52 ESR1 MMP1 MMP2 MTOR RPS6KB1 VEGFC
8
Show member pathways
12.42 MTOR RPS6KB1 TSC1 TSC2
9
Show member pathways
12.36 MTOR RPS6KB1 TSC1 TSC2
10
Show member pathways
12.36 MTOR RPS6KB1 SRF TSC1 TSC2
11
Show member pathways
12.34 MTOR RPS6KB1 TSC1 TSC2
12
Show member pathways
12.32 MTOR RPS6KB1 TSC1 TSC2
13
Show member pathways
12.31 MTOR RPS6KB1 TSC1 TSC2
14
Show member pathways
12.22 MTOR RPS6KB1 TSC1 TSC2
15 12.21 ESR1 MMP2 MTOR RPS6KB1
16 12.16 MTOR RPS6KB1 TSC1 TSC2
17
Show member pathways
12.14 MTOR RPS6KB1 TSC1 TSC2
18
Show member pathways
12.08 MTOR RPS6KB1 TSC1 TSC2
19
Show member pathways
12 MTOR RPS6KB1 TSC1 TSC2
20
Show member pathways
11.98 MMP2 MTOR RPS6KB1 TSC2
21
Show member pathways
11.94 MTOR RPS6KB1 TSC2
22 11.92 ESR1 MTOR TSC2
23 11.91 ESR1 MMP1 MTOR TSC1 TSC2
24 11.9 MTOR RPS6KB1 TSC1 TSC2
25 11.83 MMP2 VEGFC VEGFD
26 11.81 ESR1 MTOR RPS6KB1
27 11.8 MTOR RPS6KB1 TSC1 TSC2
28 11.75 MTOR TSC1 TSC2
29
Show member pathways
11.7 CTSK MMP1 MMP14 MMP2
30
Show member pathways
11.69 ESR1 MMP1 MMP2 MTOR RPS6KB1 VEGFC
31 11.62 ESR1 MTOR RPS6KB1
32 11.55 MMP1 MMP14 MMP2
33 11.46 MTOR TSC1 TSC2
34 11.45 MTOR RPS6KB1 TSC1 TSC2
35 11.08 ESR1 MTOR TSC1 TSC2
36 11.04 MTOR RPS6KB1 TSC2
37 10.93 MTOR TSC1
38
Show member pathways
10.88 MTOR RPS6KB1
39
Show member pathways
10.87 VEGFC VEGFD
40 10.84 MTOR RPS6KB1
41 10.79 MTOR RPS6KB1 TSC1 TSC2

GO Terms for Lymphangioleiomyomatosis

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

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.8 MMP14 MMP2 VEGFC VEGFD
2 response to insulin GO:0032868 9.65 MTOR RPS6KB1 TSC1
3 positive regulation of endothelial cell proliferation GO:0001938 9.63 MTOR VEGFC VEGFD
4 positive regulation of myotube differentiation GO:0010831 9.58 MMP14 MTOR
5 stress fiber assembly GO:0043149 9.57 ELN SRF
6 TOR signaling GO:0031929 9.56 MTOR RPS6KB1
7 induction of positive chemotaxis GO:0050930 9.55 VEGFC VEGFD
8 negative regulation of macroautophagy GO:0016242 9.54 MTOR TSC1
9 positive chemotaxis GO:0050918 9.54 TSC2 VEGFC VEGFD
10 anoikis GO:0043276 9.52 MTOR TSC2
11 negative regulation of cell size GO:0045792 9.51 MTOR TSC1
12 long-term memory GO:0007616 9.5 MTOR RPS6KB1 SRF
13 collagen catabolic process GO:0030574 9.46 CTSK MMP1 MMP14 MMP2
14 intramembranous ossification GO:0001957 9.43 CTSK MMP2
15 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 RPS6KB1 TSC1 TSC2
16 positive regulation of mast cell chemotaxis GO:0060754 9.4 VEGFC VEGFD
17 response to hypoxia GO:0001666 9.35 MMP14 MMP2 SRF VEGFC VEGFD
18 extracellular matrix disassembly GO:0022617 9.02 CTSK ELN MMP1 MMP14 MMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 CTSK DES ELN ESR1 MMP14 MMP2
2 identical protein binding GO:0042802 9.73 DES ESR1 MTOR PGR PMEL RPS6KB1
3 metalloendopeptidase activity GO:0004222 9.5 MMP1 MMP14 MMP2
4 serine-type endopeptidase activity GO:0004252 9.46 CTSK MMP1 MMP14 MMP2
5 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFC VEGFD

Sources for Lymphangioleiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MGI
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53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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