LAM
MCID: LYM007
MIFTS: 68

Lymphangioleiomyomatosis (LAM)

Categories: Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lymphangioleiomyomatosis

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 57 11 19 42 58 75 73 12 53 43 14 38 71 33
Lymphangiomyomatosis 57 11 42 75 28 53 5
Lam 57 19 42 58 73 63
Pulmonary Lymphangioleiomyomatosis 11 71
Lung Lymphangioleiomyomatosis 11 16
Lymphangioleiomyomatosis, Somatic 57
Lymphangio-Myomatosis 19

Characteristics:


Prevelance:

<1/1000000 (Worldwide, United States, France) 1-9/1000000 (Worldwide, United States, Germany, Canada, United Kingdom, Switzerland, New Zealand, Australia, Europe, Netherlands) 58

Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Lymphangioleiomyomatosis

MedlinePlus Genetics: 42 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.LAM is found almost exclusively in women. It often occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM.Signs and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax).The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation.Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.

MalaCards based summary: Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis 1 and tuberous sclerosis. An important gene associated with Lymphangioleiomyomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Doxycycline and Antiprotozoal Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, smooth muscle and skin, and related phenotypes are dyspnea and cough

GARD: 19 Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic 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. Some people also develop growths called angiomyolipomas (AMLs) in the kidneys. There are two forms of LAM - a sporadic form, which occurs for unknown reasons, and a form that occurs in people with a rare, inherited disease called tuberous sclerosis complex. LAM may be difficult to diagnosis in the early stages because symptoms may be similar to other lung diseases. A high resolution CT scan is the most accurate imaging test for diagnosing LAM. Additional testing may include an abdominal CT scan or ultrasound, a VEGF-D blood test (measuring the VEGF-D hormone, which would typically be high), and a lung biopsy.

PubMed Health : 63 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).

Disease Ontology: 11 A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.

Wikipedia: 75 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

More information 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 419)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 32.5 TSC2 TSC1
2 tuberous sclerosis 31.6 VEGFA TSC2 TSC1 RPS6KB1 RPS6 MTOR
3 pneumothorax 31.5 TSC1 PGR MMP2 MMP1 ELN DES
4 angiomyolipoma 31.3 VEGFD TSC2 TSC1 PGR MTOR ESR1
5 kidney angiomyolipoma 31.2 VEGFD TSC2 TSC1 RPS6KB1 RPS6 MTOR
6 leiomyoma 31.0 TSC2 PGR ESR1 DES
7 perivascular epithelioid cell tumor 30.9 TSC2 TSC1 MTOR CTSK
8 birt-hogg-dube syndrome 30.7 VEGFD TSC2 TSC1 MTOR
9 leiomyomatosis 30.7 PGR ESR1 DES
10 hereditary lymphedema i 30.5 VEGFD VEGFC PDPN
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.5 TSC2 TSC1
12 uterine sarcoma 30.5 ESR1 DES
13 hepatic angiomyolipoma 30.4 TSC2 TSC1
14 epithelioid type angiomyolipoma 30.4 TSC2 TSC1 CTSK
15 interstitial lung disease 2 30.4 VEGFA MTOR MMP2 MMP1 ELN
16 endometrial stromal sarcoma 30.4 PGR ESR1 DES
17 leiomyosarcoma 30.3 VEGFA PGR ESR1 DES
18 meningioma, familial 30.3 VEGFA TSC1 PGR PDPN ESR1
19 lymphoid interstitial pneumonia 30.3 VEGFD TSC2 TSC1 MTOR ELN
20 pulmonary emphysema 30.3 VEGFA MMP2 MMP1 ELN
21 fibroma 30.3 TSC1 PGR ESR1 DES
22 smooth muscle tumor 30.2 PGR MMP2 MMP1 ESR1 DES
23 angiolipoma 30.2 TSC2 TSC1 DES
24 uterus leiomyosarcoma 30.2 PGR DES
25 lymphangioma 30.1 VEGFC VEGFA PDPN
26 serous cystadenocarcinoma 30.1 PGR MMP2 ESR1
27 ovary adenocarcinoma 30.0 VEGFA PGR ESR1
28 polycystic kidney disease 1 with or without polycystic liver disease 30.0 TSC2 TSC1 MTOR
29 gorham's disease 30.0 VEGFD VEGFC VEGFA PDPN
30 adenomyosis 30.0 VEGFA MMP2 ESR1
31 endometriosis 29.9 VEGFA PGR MMP2 MMP1 ESR1
32 polycystic kidney disease 29.9 VEGFA TSC2 TSC1 SRF MTOR
33 adenocarcinoma 29.8 VEGFD VEGFC VEGFA MMP2 IGF1R
34 aortic aneurysm, familial abdominal, 1 29.8 VEGFA MMP2 MMP1 ELN
35 kidney cancer 29.8 VEGFA TSC2 TSC1 MTOR
36 angiosarcoma 29.7 VEGFC VEGFA PDPN
37 lung cancer susceptibility 3 29.7 VEGFD VEGFC VEGFA MMP2 IGF1R
38 connective tissue disease 29.6 VEGFA MTOR MMP2 MMP1 ESR1 ELN
39 hypertension, essential 29.6 VEGFC VEGFA MTOR MMP2 MMP1 ESR1
40 wilms tumor 1 29.6 VEGFA PGR IGF1R ESR1
41 hemangioma 29.6 VEGFC VEGFA TSC2 TSC1 PGR PDPN
42 vascular disease 29.6 VEGFA MMP2 IGF1R ESR1 ELN
43 kaposi sarcoma 29.6 VEGFC VEGFA PDPN IGF1R
44 bladder cancer 29.1 VEGFC VEGFA TSC1 MTOR MMP2 MMP1
45 endometrial cancer 29.0 VEGFD VEGFC VEGFA TSC2 RPS6KB1 PGR
46 renal cell carcinoma, nonpapillary 28.9 VEGFD VEGFC VEGFA TSC2 TSC1 PDPN
47 ovarian cancer 28.8 VEGFD VEGFC VEGFA RPS6KB1 PGR MTOR
48 gastric cancer 28.8 VEGFD VEGFC VEGFA RPS6KB1 PDPN MTOR
49 breast cancer 28.5 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
50 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis

Symptoms & Phenotypes for Lymphangioleiomyomatosis

Human phenotypes related to Lymphangioleiomyomatosis:

58 30 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002094
2 cough 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012735
3 chest pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100749
4 restrictive ventilatory defect 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002091
5 pulmonary infiltrates 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002113
6 pneumothorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0002107
7 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
8 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
9 emphysema 58 30 Frequent (33%) Frequent (79-30%)
HP:0002097
10 abnormal morphology of female internal genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000008
11 atelectasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100750
12 lymphadenopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002716
13 ungual fibroma 58 30 Frequent (33%) Frequent (79-30%)
HP:0100804
14 renal angiomyolipoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0006772
15 chylothorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0010310
16 pulmonary lymphangiomyomatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0012798
17 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
18 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
19 recurrent respiratory infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002205
20 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
21 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
22 fatigue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012378
23 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
24 lymphedema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001004
25 ascites 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001541
26 hemoptysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002105
27 multiple renal cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005562
28 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
29 macule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012733
30 abnormality of skin pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001000
31 abnormal urinary color 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012086
32 chylopericardium 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011852
33 retinal hamartoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009594
34 shagreen patch 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009721
35 abnormality of the lymphatic system 58 Very frequent (99-80%)
36 renal neoplasm 58 Occasional (29-5%)

Clinical features from OMIM®:

606690 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 CTSK DES ELN ESR1 IGF1R MMP1
2 no effect GR00402-S-2 10.14 DES MMP1 MMP2 MTOR PGR PMEL
3 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
4 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
5 Decreased viability with paclitaxel GR00179-A-3 9.55 MTOR RPS6KB1
6 Reduced mammosphere formation GR00396-S 9.5 CTSK DES IGF1R MMP2 MTOR RPS6

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.5 CTSK DES ELN ESR1 IGF1R MMP1
2 muscle MP:0005369 10.33 DES ELN ESR1 IGF1R MMP2 MTOR
3 growth/size/body region MP:0005378 10.32 CTSK ESR1 IGF1R MMP2 MTOR PDPN
4 cardiovascular system MP:0005385 10.31 DES ELN ESR1 IGF1R MMP2 MTOR
5 neoplasm MP:0002006 10.27 ESR1 IGF1R MMP1 MMP2 PGR RPS6KB1
6 endocrine/exocrine gland MP:0005379 10.27 CTSK ESR1 IGF1R MMP2 MTOR PGR
7 behavior/neurological MP:0005386 10.25 CTSK DES ESR1 IGF1R MMP2 MTOR
8 cellular MP:0005384 10.23 CTSK DES ESR1 IGF1R MTOR PGR
9 normal MP:0002873 10.22 ESR1 MMP2 MTOR PGR RHEBL1 SRF
10 immune system MP:0005387 10.18 CTSK ESR1 IGF1R MMP1 MMP2 MTOR
11 embryo MP:0005380 10.13 ESR1 IGF1R MTOR PGR RPS6KB1 SRF
12 no phenotypic analysis MP:0003012 10.1 ESR1 MTOR PGR PMEL RHEBL1 SRF
13 limbs/digits/tail MP:0005371 10.08 CTSK ESR1 IGF1R MTOR PGR RPS6
14 respiratory system MP:0005388 10.02 CTSK ELN ESR1 IGF1R MMP2 MTOR
15 skeleton MP:0005390 10 CTSK ELN ESR1 IGF1R MMP2 MTOR
16 hematopoietic system MP:0005397 9.93 CTSK ESR1 IGF1R MMP2 MTOR PDPN
17 mortality/aging MP:0010768 9.86 DES ELN ESR1 IGF1R MMP2 MTOR
18 integument MP:0010771 9.32 ESR1 IGF1R MMP2 PDPN PGR PMEL

Drugs & Therapeutics for Lymphangioleiomyomatosis

PubMed Health treatment related to Lymphangioleiomyomatosis: 63

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 again Procedures to shrink angiomyolipomas (AMLs) Lung transplant Hormone therapy

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antiprotozoal Agents Phase 4
3 Antiparasitic Agents Phase 4
4 Antimalarials Phase 4
5
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
6
Nintedanib Approved Phase 2 656247-17-5 135423438 9809715
7
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605 16129706
8
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
9
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Loratadine Approved, Investigational Phase 2 79794-75-5 3957
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Salbutamol Approved, Vet_approved Phase 1, Phase 2 18559-94-9 2083
14
Resveratrol Investigational Phase 2 501-36-0 445154
15
Saracatinib Investigational Phase 2 379231-04-6 10302451
16 Anticholesteremic Agents Phase 1, Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
18 Protein Kinase Inhibitors Phase 2
19 Antineoplastic Agents, Hormonal Phase 2
20 Estrogens Phase 2
21 Estrogen Receptor Antagonists Phase 2
22 Estrogen Antagonists Phase 2
23 Hormones Phase 2
24 Hormone Antagonists Phase 2
25 Aromatase Inhibitors Phase 2
26 Antirheumatic Agents Phase 2
27 Analgesics Phase 2
28 Cyclooxygenase Inhibitors Phase 2
29 Cyclooxygenase 2 Inhibitors Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Cola Phase 2
32 Analgesics, Non-Narcotic Phase 2
33 Anti-Inflammatory Agents Phase 2
34
Imatinib Mesylate Phase 1, Phase 2 220127-57-1
35 Anti-Allergic Agents Phase 2
36
Histamine phosphate Phase 2 51-74-1 134614
37 Histamine H1 Antagonists, Non-Sedating Phase 2
38 Histamine H1 Antagonists Phase 2
39 Histamine Antagonists Phase 2
40 Dermatologic Agents Phase 2
41 Bronchodilator Agents Phase 1, Phase 2
42 Adrenergic beta-Agonists Phase 1, Phase 2
43 Adrenergic Agonists Phase 1, Phase 2
44 Anti-Asthmatic Agents Phase 1, Phase 2
45 Adrenergic Agents Phase 1, Phase 2
46 Respiratory System Agents Phase 1, Phase 2
47 Tocolytic Agents Phase 1, Phase 2
48 Platelet Aggregation Inhibitors Phase 2
49 Antioxidants Phase 2
50 Protective Agents Phase 2

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
3 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients 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 Recruiting NCT03150914 Phase 3 Sirolimus
5 A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Unknown status NCT00490789 Phase 2 sirolimus
6 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
7 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
8 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Completed NCT02061397 Phase 1, Phase 2 Simvastatin;Sirolimus Oral Product;Everolimus Oral Product
9 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
10 A Pilot Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Completed NCT03062943 Phase 2 Nintedanib
11 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
12 An Exploratory, Open-label, Non-randomized, Within-patient Multiple Dose-escalation Safety, Tolerability, PK and Efficacy Trial of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2 Everolimus
13 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
14 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Completed NCT02484664 Phase 2 Celecoxib
15 LAM Pilot Study With Imatinib Mesylate Completed NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
16 Phase II Clinical Trial Evaluating the Effect of Loratadine Associated to Rapamicyn in Patients With Lymphangioleiomyomatosis Recruiting NCT05190627 Phase 2 Loratadine;Placebo 10mg/day added to rapamycin for 12 months
17 Feasibility Study of [11C]Acetate Positron Emission Tomography (PET) as an Indicator of Early Response to Rapamycin in Lymphangioleiomyomatosis (LAM) Patients Recruiting NCT05467397 Phase 1, Phase 2 [11C]acetate
18 Bronchodilator Effects of Nebulized Versus Inhaled Albuterol in Subjects With Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 1, Phase 2 albuterol inhaler;albuterol nebulizer
19 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial (RESULT) Active, not recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
20 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Terminated NCT02737202 Phase 2 saracatinib
21 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
22 Glutamine PET Imaging in LAM Completed NCT04388371 Phase 1 Glutamine
23 Targeting Autophagy for the Treatment of TSC and LAM: a Phase I Trial of Hydroxychloroquine and Sirolimus Completed NCT01687179 Phase 1 "Sirolimus" and "Hydroxychloroquine" 200 mg;"Sirolimus" and "Hydroxychloroquine" 400 mg
24 Application of 68Ga NEB PET Imaging in the Diagnosis and Evaluation of Lymphatic Disorders, Including Lymphedema, Lymphangioma, Lymphangioleiomyomatosis, Plastic Bronchitis, Lymphadenopathy Caused by Rheumatoid Arthritis, Etc. Recruiting NCT04273334 Phase 1 68Ga-NEB
25 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Active, not recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
26 Effect of Fasting on the Size of Lymphangioleiomyomas in Patients With Lymphangioleiomyomatosis Completed NCT00552955
27 Evaluation of the Impact of a Pulmonary Rehabilitation Program on Exercise Capacity in Patients With Lymphangioleiomyomatosis Completed NCT02009241
28 Benefits of Pulmonary Rehabilitation in Patients With Severe Lymphangioleiomyomatosis (LAM) - a Retrospective Analysis Completed NCT04184193
29 Observational Study of Patients With Lymphangioleiomyomatosis and Pulmonary Hypertension Completed NCT00960895
30 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
31 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00001869
32 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Completed NCT02325505
33 Role of Helicobacter Pylori and Its Toxins in Pulmonary and Oropharyngeal Disease Completed NCT00366509
34 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Completed NCT02859194
35 Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM) Recruiting NCT00001465
36 A National Registry on Clinical Manifestations, Genetics, Interventions, and Outcomes in Chinese Patients With Lymphangioleiomyomatosis (LAM-CHINA) Recruiting NCT03193892
37 Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates Recruiting NCT05323370
38 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
39 Sleep Patterns in Patients Affected by Lymphangioleiomiomatosis Recruiting NCT04577937
40 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
41 Multicenter International Durability and Safety of Sirolimus in LAM Trial (MIDAS) Recruiting NCT02432560 Sirolimus;Everolimus
42 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
43 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Active, not recruiting NCT02654340
44 Characterizing Lymphangioleiomyomatosis (LAM) With 11C-Choline PET/CT Not yet recruiting NCT05087134 Early Phase 1 11C-Choline

Search NIH Clinical Center for Lymphangioleiomyomatosis

Cochrane evidence based reviews: lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

Genetic tests related to Lymphangioleiomyomatosis:

# Genetic test Affiliating Genes
1 Lymphangiomyomatosis 28 TSC1 TSC2

Anatomical Context for Lymphangioleiomyomatosis

Organs/tissues related to Lymphangioleiomyomatosis:

MalaCards : Lung, Smooth Muscle, Skin, Endothelial, Kidney, Heart, Lymph Node
ODiseA: Brain, Heart, Respiratory System-Lung, Respiratory System, Skin, Kidney

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 1979)
# Title Authors PMID Year
1
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 53 62 57 5
11829138 2002
2
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 62 57 5
10823953 2000
3
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. 53 62 57
9529362 1998
4
Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. 53 62 57
7791386 1995
5
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 62 57
12411287 2003
6
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. 62 57
10633137 2000
7
Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). 62 57
10499073 1999
8
Lung transplantation for lymphangioleiomyomatosis. 62 57
8857007 1996
9
Pulmonary tuberous sclerosis. 62 57
7813275 1995
10
Lymphangioleiomyomatosis. 62 57
8323071 1993
11
Lymphangioleiomyomatosis. Clinical course in 32 patients. 62 57
2215609 1990
12
Complete inactivation of the TSC2 gene leads to formation of hamartomas. 5
10577937 1999
13
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 5
8824881 1996
14
Mutation and cancer: statistical study of retinoblastoma. 5
5279523 1971
15
A high-throughput, cell-based screening method for siRNA and small molecule inhibitors of mTORC1 signaling using the In Cell Western technique. 53 62
20085456 2010
16
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 53 62
20235887 2010
17
CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. 53 62
20177097 2010
18
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. 53 62
20038814 2010
19
Signal transducer and activator of transcription 3 is required for abnormal proliferation and survival of TSC2-deficient cells: relevance to pulmonary lymphangioleiomyomatosis. 53 62
19596836 2009
20
Vascular endothelial growth factors C and D induces proliferation of lymphangioleiomyomatosis cells through autocrine crosstalk with endothelium. 53 62
19717640 2009
21
Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. 53 62
19349386 2009
22
Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors. 53 62
19602587 2009
23
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 53 62
19419980 2009
24
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 53 62
19443708 2009
25
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. 53 62
19133941 2009
26
Therapeutic targeting of mTOR in tuberous sclerosis. 53 62
19143643 2009
27
Cathepsin-k expression in pulmonary lymphangioleiomyomatosis. 53 62
19060845 2009
28
The pathogenesis and imaging of the tuberous sclerosis complex. 53 62
18414839 2008
29
Activation of the estrogen receptor contributes to the progression of pulmonary lymphangioleiomyomatosis via matrix metalloproteinase-induced cell invasiveness. 53 62
18285421 2008
30
PEComas: the past, the present and the future. 53 62
18080139 2008
31
"Malignant" uterine perivascular epithelioid cell tumor, pelvic lymph node lymphangioleiomyomatosis, and gynecological pecomatosis in a patient with tuberous sclerosis: a case report and review of the literature. 53 62
18156981 2008
32
TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. 53 62
17975002 2007
33
Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. 53 62
17431222 2007
34
Survivin expression in tuberous sclerosis complex cells. 53 62
17592551 2007
35
Subcellular distribution of the TSC2 gene product tuberin in human airway smooth muscle cells is driven by multiple localization sequences and is cell-cycle dependent. 53 62
16905638 2007
36
Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. 53 62
17105849 2007
37
Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus. 53 62
17114346 2006
38
Frequent [corrected] hyperphosphorylation of ribosomal protein S6 [corrected] in lymphangioleiomyomatosis-associated angiomyolipomas. 53 62
16575396 2006
39
Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2. 53 62
16424383 2006
40
The role of tuberin in cellular differentiation: are B-Raf and MAPK involved? 53 62
16382052 2005
41
Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor. 53 62
16192644 2005
42
Unilateral lymphangioleiomyomatosis. 53 62
16077340 2005
43
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. 53 62
15781664 2005
44
Imbalanced plasminogen system in lymphangioleiomyomatosis: potential role of serum response factor. 53 62
15514113 2005
45
TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase. 53 62
15611338 2004
46
A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis. 53 62
15257730 2004
47
Matrix proteoglycans and remodelling of interstitial lung tissue in lymphangioleiomyomatosis. 53 62
15141380 2004
48
Tumour suppressors hamartin and tuberin: intracellular signalling. 53 62
12781866 2003
49
Nongenomic estrogen action regulates tyrosine phosphatase activity and tuberin stability. 53 62
12581886 2003
50
Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. 53 62
12466966 2002

Variations for Lymphangioleiomyomatosis

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

5 (show top 50) (show all 170)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC1 NM_000368.5(TSC1):c.495C>A (p.Cys165Ter) SNV Pathogenic
5102 rs118203388 GRCh37: 9:135798748-135798748
GRCh38: 9:132923361-132923361
2 TSC2 NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) SNV Pathogenic
12400 rs45517148 GRCh37: 16:2110791-2110791
GRCh38: 16:2060790-2060790
3 TSC2 NM_000548.5(TSC2):c.1458del (p.Ser487fs) DEL Pathogenic
626195 rs1567437155 GRCh37: 16:2114287-2114287
GRCh38: 16:2064286-2064286
4 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) SNV Pathogenic
49083 rs118203427 GRCh37: 9:135796805-135796805
GRCh38: 9:132921418-132921418
5 TSC2 NM_000548.5(TSC2):c.5161-1G>A SNV Pathogenic
49943 rs45517404 GRCh37: 16:2138227-2138227
GRCh38: 16:2088226-2088226
6 TSC2 NM_000548.5(TSC2):c.501G>A (p.Trp167Ter) SNV Pathogenic
930277 rs755728007 GRCh37: 16:2105422-2105422
GRCh38: 16:2055421-2055421
7 TSC2 NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) DUP Pathogenic
49539 rs137854210 GRCh37: 16:2131680-2131681
GRCh38: 16:2081679-2081680
8 TSC2 NM_000548.5(TSC2):c.5160+4A>C SNV Pathogenic
373972 rs45517403 GRCh37: 16:2138144-2138144
GRCh38: 16:2088143-2088143
9 TSC2 NM_000548.5(TSC2):c.1583dup (p.Asp529fs) DUP Pathogenic
930794 rs2087032456 GRCh37: 16:2114411-2114412
GRCh38: 16:2064410-2064411
10 TSC2 NM_000548.5(TSC2):c.4473del (p.Val1492fs) DEL Pathogenic
238047 rs397515023 GRCh37: 16:2134694-2134694
GRCh38: 16:2084693-2084693
11 TSC2 NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer) DEL Pathogenic
50041 rs137854157 GRCh37: 16:2129165-2129165
GRCh38: 16:2079164-2079164
12 TSC1 NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) DEL Pathogenic
48971 rs118203707 GRCh37: 9:135776215-135776218
GRCh38: 9:132900828-132900831
13 TSC1 NM_000368.5(TSC1):c.1868_1877del (p.Lys623fs) DEL Pathogenic
931763 rs1845615656 GRCh37: 9:135781088-135781097
GRCh38: 9:132905701-132905710
14 TSC2 NM_000548.5(TSC2):c.595del (p.Val199fs) DEL Pathogenic
1686276 GRCh37: 16:2105515-2105515
GRCh38: 16:2055514-2055514
15 TSC2 NM_000548.5(TSC2):c.1380_1386del (p.Val461fs) DEL Pathogenic
1686277 GRCh37: 16:2112987-2112993
GRCh38: 16:2062986-2062992
16 TSC2 NM_000548.5(TSC2):c.3040dup (p.Ser1014fs) DUP Pathogenic
1686278 GRCh37: 16:2129105-2129106
GRCh38: 16:2079104-2079105
17 TSC2 NM_000548.5(TSC2):c.3376del (p.Asp1126fs) DEL Pathogenic
1686279 GRCh37: 16:2129647-2129647
GRCh38: 16:2079646-2079646
18 TSC2 NM_000548.5(TSC2):c.4279dup (p.Ser1427fs) DUP Pathogenic
1686280 GRCh37: 16:2134499-2134500
GRCh38: 16:2084498-2084499
19 TSC2 NM_000548.5(TSC2):c.4006-2A>G SNV Pathogenic
64922 rs397514941 GRCh37: 16:2134227-2134227
GRCh38: 16:2084226-2084226
20 TSC2 NM_000548.5(TSC2):c.2046del (p.Ser683fs) DEL Pathogenic
65381 rs397515287 GRCh37: 16:2121881-2121881
GRCh38: 16:2071880-2071880
21 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) SNV Pathogenic
48796 rs118203542 GRCh37: 9:135781440-135781440
GRCh38: 9:132906053-132906053
22 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic
48885 rs118203631 GRCh37: 9:135779172-135779172
GRCh38: 9:132903785-132903785
23 TSC2 NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) SNV Pathogenic
49643 rs45469298 GRCh37: 16:2120571-2120571
GRCh38: 16:2070570-2070570
24 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV Pathogenic
Pathogenic
12397 rs28934872 GRCh37: 16:2120572-2120572
GRCh38: 16:2070571-2070571
25 TSC1 NM_000368.5(TSC1):c.2329del (p.Ser777fs) DEL Pathogenic
64708 rs397514780 GRCh37: 9:135778054-135778054
GRCh38: 9:132902667-132902667
26 TSC2 NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs) DEL Pathogenic
1319400 GRCh37: 16:2121862-2121872
GRCh38: 16:2071861-2071871
27 TSC2 NM_000548.5(TSC2):c.848+281C>T SNV Pathogenic
49923 rs45517132 GRCh37: 16:2107460-2107460
GRCh38: 16:2057459-2057459
28 TSC1 NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) SNV Pathogenic
48791 rs118203537 GRCh37: 9:135781467-135781467
GRCh38: 9:132906080-132906080
29 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic
12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
30 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV Pathogenic
49471 rs45517412 GRCh37: 16:2138294-2138294
GRCh38: 16:2088293-2088293
31 TSC2 NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) SNV Pathogenic
49930 rs45517395 GRCh37: 16:2138118-2138118
GRCh38: 16:2088117-2088117
32 TSC2 NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) SNV Pathogenic
50131 rs45517222 GRCh37: 16:2122880-2122880
GRCh38: 16:2072879-2072879
33 TSC1 NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) DUP Pathogenic
648763 rs1588309702 GRCh37: 9:135781242-135781243
GRCh38: 9:132905855-132905856
34 TSC2 NM_000548.5(TSC2):c.4662+1G>A SNV Pathogenic
50031 rs45514095 GRCh37: 16:2135324-2135324
GRCh38: 16:2085323-2085323
35 TSC1 NM_000368.5(TSC1):c.2321_2330del (p.Lys774fs) DEL Pathogenic
931562 rs1845446236 GRCh37: 9:135778053-135778062
GRCh38: 9:132902666-132902675
36 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) SNV Pathogenic
Not Provided
12396 rs45517179 GRCh37: 16:2114342-2114342
GRCh38: 16:2064341-2064341
37 TSC1 NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) SNV Pathogenic
48941 rs118203680 GRCh37: 9:135778042-135778042
GRCh38: 9:132902655-132902655
38 TSC1 NM_000368.5(TSC1):c.1033del (p.Thr345fs) DEL Likely Pathogenic
626194 rs1564488264 GRCh37: 9:135786497-135786497
GRCh38: 9:132911110-132911110
39 TSC2 NM_000548.5(TSC2):c.886G>A (p.Val296Met) SNV Likely Pathogenic
374159 rs747237113 GRCh37: 16:2108785-2108785
GRCh38: 16:2058784-2058784
40 TSC2 NM_000548.5(TSC2):c.2318dup (p.Leu773fs) DUP Likely Pathogenic
828015 rs1596350476 GRCh37: 16:2122945-2122946
GRCh38: 16:2072944-2072945
41 TSC2 NM_000548.5(TSC2):c.225+1G>A SNV Likely Pathogenic
626196 rs1567387207 GRCh37: 16:2100488-2100488
GRCh38: 16:2050487-2050487
42 TSC2 NM_000548.5(TSC2):c.2545+5G>C SNV Likely Pathogenic
430442 rs1131691965 GRCh37: 16:2124395-2124395
GRCh38: 16:2074394-2074394
43 TSC2 NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) SNV Uncertain Significance
468061 rs1555513911 GRCh37: 16:2134286-2134286
GRCh38: 16:2084285-2084285
44 TSC2 NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) SNV Uncertain Significance
65196 rs397515146 GRCh37: 16:2110728-2110728
GRCh38: 16:2060727-2060727
45 TSC2 NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del) MICROSAT Uncertain Significance
626039 rs1596356726 GRCh37: 16:2124322-2124324
GRCh38: 16:2074321-2074323
46 TSC2 NM_000548.5(TSC2):c.2479G>A (p.Val827Met) SNV Uncertain Significance
626040 rs543738044 GRCh37: 16:2124324-2124324
GRCh38: 16:2074323-2074323
47 TSC2 NM_000548.5(TSC2):c.1172_1174del (p.Val391del) DEL Uncertain Significance
626197 rs1567428371 GRCh37: 16:2111922-2111924
GRCh38: 16:2061921-2061923
48 TSC2 NM_000548.5(TSC2):c.2098-3C>A SNV Uncertain Significance
828014 rs876660489 GRCh37: 16:2122239-2122239
GRCh38: 16:2072238-2072238
49 TSC2 NM_000548.5(TSC2):c.481+5G>C SNV Uncertain Significance
828016 rs137854135 GRCh37: 16:2104446-2104446
GRCh38: 16:2054445-2054445
50 TSC2 NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) DEL Uncertain Significance
548553 rs1555439825 GRCh37: 16:2137925-2137942
GRCh38: 16:2087924-2087941

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

73
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Arg611Gln VAR_005650 rs28934872

Expression for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for Lymphangioleiomyomatosis

Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ELN ESR1 IGF1R MTOR SRF TSC1
2
Show member pathways
13.71 VEGFD VEGFC VEGFA SRF MMP2 MMP1
3 13.59 ESR1 IGF1R MMP2 MTOR PGR RPS6
4
Show member pathways
13.48 VEGFA TSC2 TSC1 SRF RPS6KB1 RPS6
5
Show member pathways
13.41 VEGFD VEGFC TSC2 TSC1 RPS6KB1 MTOR
6
Show member pathways
13.28 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
7
Show member pathways
13.07 ELN IGF1R MTOR RPS6KB1 VEGFC VEGFD
8
Show member pathways
13.01 VEGFD VEGFC TSC2 TSC1 RPS6KB1 RPS6
9
Show member pathways
12.87 SRF RPS6KB1 RPS6 MTOR IGF1R
10 12.73 VEGFD VEGFC VEGFA SRF PGR MTOR
11
Show member pathways
12.71 VEGFA TSC2 RPS6KB1 MTOR IGF1R
12
Show member pathways
12.69 VEGFA TSC2 TSC1 RPS6KB1 RPS6 MTOR
13
Show member pathways
12.62 IGF1R MTOR RPS6 RPS6KB1 TSC1 TSC2
14
Show member pathways
12.53 TSC2 TSC1 SRF RPS6KB1 MTOR IGF1R
15
Show member pathways
12.49 RPS6KB1 PGR MTOR IGF1R ESR1
16
Show member pathways
12.42 SRF MMP2 IGF1R ESR1
17
Show member pathways
12.4 VEGFD VEGFC RPS6KB1 MTOR IGF1R
18
Show member pathways
12.32 VEGFD VEGFC VEGFA MTOR
19
Show member pathways
12.3 TSC2 TSC1 RPS6KB1 RPS6 MTOR
20 12.29 VEGFD VEGFC VEGFA IGF1R
21
Show member pathways
12.21 TSC2 TSC1 RPS6KB1 MTOR
22
Show member pathways
12.2 TSC2 TSC1 RPS6KB1 RPS6 MTOR IGF1R
23
Show member pathways
12.18 TSC2 TSC1 RPS6KB1 RPS6 MTOR IGF1R
24
Show member pathways
12.15 IGF1R MMP2 MTOR RPS6KB1 TSC2
25 12.11 TSC2 TSC1 RPS6KB1 MTOR IGF1R
26 12.09 VEGFA RPS6KB1 MTOR ESR1
27
Show member pathways
12.07 TSC2 TSC1 RPS6KB1 RPS6 MTOR
28
Show member pathways
12.06 TSC2 TSC1 RPS6KB1 MTOR
29 11.98 VEGFA TSC2 TSC1 MTOR MMP1 ESR1
30
Show member pathways
11.96 MTOR RPS6 RPS6KB1 TSC1 TSC2
31 11.95 VEGFA MMP2 MMP1
32 11.93 VEGFC VEGFA MTOR MMP2
33 11.93 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
34
Show member pathways
11.91 MMP2 MMP1 CTSK
35 11.89 RPS6KB1 MTOR ESR1
36
Show member pathways
11.89 TSC2 TSC1 RPS6KB1 RPS6 RHEBL1 MTOR
37 11.86 RPS6KB1 RPS6 MTOR
38 11.86 VEGFA TSC2 TSC1 MTOR
39 11.85 VEGFC PDPN MMP2
40 11.84 TSC2 TSC1 MTOR
41 11.79 VEGFA MMP2 MMP1 ELN
42 11.77 TSC2 TSC1 RPS6KB1 RPS6 MTOR
43 11.76 IGF1R MTOR RPS6
44 11.72 RPS6KB1 MTOR ESR1
45
Show member pathways
11.68 VEGFA MMP2 MMP1
46
Show member pathways
11.68 TSC2 TSC1 RPS6KB1 MTOR
47 11.67 TSC2 TSC1 MTOR
48 11.66 MMP2 MMP1 IGF1R
49 11.66 RPS6KB1 RPS6 MTOR IGF1R
50 11.63 VEGFA RPS6KB1 IGF1R

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 8.92 TSC2 TSC1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.34 VEGFA RPS6KB1 RPS6 PDPN MTOR IGF1R
2 positive regulation of cell migration GO:0030335 10.15 VEGFC VEGFA PDPN MMP2 IGF1R
3 response to hypoxia GO:0001666 10.13 VEGFD VEGFC VEGFA SRF MMP2
4 positive regulation of cell division GO:0051781 10.02 VEGFD VEGFC VEGFA
5 extracellular matrix disassembly GO:0022617 10.01 CTSK MMP1 MMP2
6 collagen catabolic process GO:0030574 10 MMP2 MMP1 CTSK
7 cellular response to estradiol stimulus GO:0071392 9.99 MMP2 IGF1R ESR1
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.97 RPS6KB1 MMP2 IGF1R
9 sprouting angiogenesis GO:0002040 9.95 VEGFD VEGFC VEGFA
10 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.93 VEGFA VEGFC VEGFD
11 vascular endothelial growth factor signaling pathway GO:0038084 9.88 VEGFD VEGFC VEGFA
12 intramembranous ossification GO:0001957 9.87 MMP2 CTSK
13 positive chemotaxis GO:0050918 9.86 VEGFD VEGFC VEGFA TSC2
14 response to nutrient levels GO:0031667 9.85 TSC1 RPS6KB1 MTOR IGF1R
15 induction of positive chemotaxis GO:0050930 9.8 VEGFA VEGFC VEGFD
16 positive regulation of mast cell chemotaxis GO:0060754 9.63 VEGFD VEGFC VEGFA
17 response to insulin GO:0032868 9.56 TSC1 RPS6KB1 MTOR IGF1R CTSK
18 TOR signaling GO:0031929 9.23 RPS6KB1 RPS6 RHEBL1 MTOR

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

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 9.73 VEGFD VEGFC VEGFA
2 fibronectin binding GO:0001968 9.63 VEGFA MMP2 CTSK
3 vascular endothelial growth factor receptor 3 binding GO:0043185 9.26 VEGFD VEGFC
4 vascular endothelial growth factor receptor binding GO:0005172 9.1 VEGFD VEGFC VEGFA

Sources for Lymphangioleiomyomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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