Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LAM
MCID: LYM007
MIFTS: 69

Lymphangioleiomyomatosis (LAM)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Lymphangioleiomyomatosis

About this section

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 56 12 74 52 25 58 73 36 13 54 15 39 71
Lymphangiomyomatosis 56 12 74 25 29 54 6
Lam 56 52 25 58 73 62
Pulmonary Lymphangioleiomyomatosis 12 71
Lung Lymphangioleiomyomatosis 12 17
Lymphangioleiomyomatosis, Somatic 56
Lymphangio-Myomatosis 52

Characteristics:

Orphanet epidemiological data:

58
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;

HPO:

31
lymphangioleiomyomatosis:
Inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Respiratory diseases Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


Sources

Summaries for Lymphangioleiomyomatosis

About this section
Genetics Home Reference : 25 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 kidney angiomyolipoma. 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 Everolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related phenotypes are dyspnea and restrictive ventilatory defect

NIH Rare Diseases : 52 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 . There are several management options for LAM, but the best course of treatment may vary from person to person. Treatment options may include therapy with an mTOR inhibitor (such as sirolimus ), and supportive measures such as oxygen therapy or the use of bronchodilators . Some people may need a lung transplant when lung function is considerably impaired.

KEGG : 36 Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

More information from OMIM: 606690
Sources

Related Diseases for Lymphangioleiomyomatosis

About this section

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

(show top 50) (show all 392)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 33.1 TSC2 TSC1 RPS6KB1 RPS6 MTOR
2 kidney angiomyolipoma 33.0 VEGFD TSC2 TSC1 RPS6KB1 MTOR
3 pneumothorax 31.8 TSC1 PGR MMP2 MMP1 ELN
4 tuberous sclerosis 31.7 VEGFA TSC2 TSC1 RPS6KB1 RPS6 MTOR
5 lung disease 31.6 VEGFA TSC2 TSC1 ELN EGFR
6 angiomyolipoma 31.4 VEGFD TSC2 TSC1 PGR MTOR ESR1
7 leiomyoma 31.3 TSC2 PGR ESR1 DES
8 perivascular epithelioid cell tumor 31.0 TSC2 PGR DES CTSK
9 intravenous leiomyomatosis 31.0 PGR ESR1 DES
10 rare tumor 31.0 MMP2 DES
11 benign metastasizing leiomyoma 30.9 PGR DES
12 leiomyoma, uterine 30.8 PGR MMP2 MMP1 ESR1
13 myoma 30.7 PGR ESR1 EGFR
14 endometrial stromal sarcoma 30.7 PGR MMP2 ESR1 DES
15 smooth muscle tumor 30.7 PGR ESR1 DES
16 lymphangiomatosis 30.6 PGR DES
17 tuberous sclerosis 2 30.6 TSC2 TSC1 RPS6KB1 RPS6 MTOR
18 hepatic angiomyolipoma 30.6 TSC2 MTOR
19 pulmonary emphysema 30.5 VEGFA MMP2 MMP1 ELN
20 lymphangioma 30.5 VEGFC VEGFA EGFR
21 neurofibromatosis, type ii 30.5 VEGFA PGR MTOR EGFR
22 meningioma, familial 30.5 VEGFA PGR ESR1 EGFR
23 mucositis 30.5 VEGFA MTOR MMP2
24 carcinosarcoma 30.4 PGR EGFR DES
25 hemangioma 30.4 VEGFA TSC2 PGR MTOR
26 ovary adenocarcinoma 30.4 VEGFA PGR ESR1 EGFR
27 leiomyosarcoma 30.3 VEGFA PGR MTOR ESR1 DES
28 polycystic kidney disease 30.2 VEGFA TSC2 TSC1 MTOR EGFR
29 adenomyosis 30.2 VEGFA PGR MMP2 ESR1
30 exanthem 30.2 VEGFA MTOR EGFR
31 endometrial adenocarcinoma 30.1 VEGFA PGR ESR1 EGFR
32 endometriosis 29.9 VEGFA PGR MMP2 MMP1 ESR1
33 wilms tumor 1 29.8 VEGFA PGR IGF1R ESR1 EGFR
34 adenocarcinoma 29.7 VEGFD VEGFC VEGFA MMP2 IGF1R EGFR
35 pulmonary fibrosis, idiopathic 29.6 VEGFA MMP2 MMP1 ELN
36 kidney cancer 29.6 VEGFD VEGFC VEGFA TSC2 TSC1 MTOR
37 lung cancer susceptibility 3 29.1 VEGFD VEGFC VEGFA TSC2 MTOR MMP2
38 endometrial cancer 29.1 VEGFD VEGFC VEGFA PGR MTOR MMP2
39 gastric cancer 28.9 VEGFD VEGFC VEGFA RPS6KB1 PGR MTOR
40 renal cell carcinoma, nonpapillary 28.8 VEGFD VEGFC VEGFA TSC2 TSC1 PMEL
41 breast cancer 28.8 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
42 ovarian cancer 28.6 VEGFD VEGFC VEGFA RPS6KB1 PGR MTOR
43 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
44 respiratory failure 10.7
45 pneumothorax, primary spontaneous 10.7
46 glassy cell carcinoma of the cervix 10.6 PGR ESR1
47 bartholin's gland adenoid cystic carcinoma 10.6 PGR ESR1
48 chronic tympanitis 10.6 PGR ESR1
49 bartholin's gland adenoma 10.6 PGR ESR1
50 granulomatous endometritis 10.6 PGR ESR1

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis
Sources

Symptoms & Phenotypes for Lymphangioleiomyomatosis

About this section

Human phenotypes related to Lymphangioleiomyomatosis:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
2 restrictive ventilatory defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0002091
3 pulmonary infiltrates 58 31 hallmark (90%) Very frequent (99-80%) HP:0002113
4 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
5 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
6 emphysema 58 31 frequent (33%) Frequent (79-30%) HP:0002097
7 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 atelectasis 58 31 frequent (33%) Frequent (79-30%) HP:0100750
10 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
11 pneumothorax 58 31 frequent (33%) Frequent (79-30%) HP:0002107
12 ungual fibroma 58 31 frequent (33%) Frequent (79-30%) HP:0100804
13 renal angiomyolipoma 58 31 frequent (33%) Frequent (79-30%) HP:0006772
14 chylothorax 58 31 frequent (33%) Frequent (79-30%) HP:0010310
15 pulmonary lymphangiomyomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0012798
16 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008
17 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
21 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
22 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
23 macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0012733
24 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
25 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
26 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
27 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
28 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
29 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
30 abnormal urinary color 58 31 occasional (7.5%) Occasional (29-5%) HP:0012086
31 chylopericardium 58 31 occasional (7.5%) Occasional (29-5%) HP:0011852
32 retinal hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009594
33 shagreen patch 58 31 occasional (7.5%) Occasional (29-5%) HP:0009721
34 seizure 31 occasional (7.5%) HP:0001250
35 seizures 58 Occasional (29-5%)
36 abnormality of the lymphatic system 58 Very frequent (99-80%)
37 abnormality of female internal genitalia 58 Frequent (79-30%)
38 renal neoplasm 58 Occasional (29-5%)

Clinical features from OMIM:

606690

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.25 EGFR MTOR
2 Decreased viability GR00055-A-2 10.25 EGFR MTOR
3 Decreased viability GR00221-A-1 10.25 EGFR ESR1 IGF1R MTOR RPS6KB1
4 Decreased viability GR00221-A-2 10.25 ESR1 IGF1R
5 Decreased viability GR00221-A-3 10.25 IGF1R
6 Decreased viability GR00221-A-4 10.25 EGFR ESR1 MTOR
7 Decreased viability GR00301-A 10.25 IGF1R RPS6KB1
8 Decreased viability GR00342-S-1 10.25 MTOR
9 Decreased viability GR00342-S-2 10.25 IGF1R MTOR
10 Decreased viability GR00381-A-1 10.25 RPS6KB1
11 Decreased viability GR00386-A-1 10.25 ESR1
12 Decreased viability GR00402-S-2 10.25 ESR1 IGF1R RPS6KB1
13 Decreased cell migration GR00055-A-1 9.56 IGF1R TSC1
14 Decreased cell migration GR00055-A-3 9.56 EGFR MTOR
15 Decreased viability with paclitaxel GR00179-A-1 9.5 EGFR MTOR RPS6KB1
16 Decreased viability with paclitaxel GR00179-A-2 9.5 MTOR
17 Decreased viability with paclitaxel GR00179-A-3 9.5 EGFR MTOR RPS6KB1
18 Reduced mammosphere formation GR00396-S 9.23 CTSK DES EGFR IGF1R MMP2 MTOR

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 CTSK DES EGFR ESR1 IGF1R MMP1
2 cardiovascular system MP:0005385 10.42 DES EGFR ESR1 IGF1R MMP2 MTOR
3 cellular MP:0005384 10.38 CTSK DES EGFR ESR1 IGF1R MTOR
4 growth/size/body region MP:0005378 10.34 CTSK EGFR ESR1 IGF1R MMP2 MTOR
5 endocrine/exocrine gland MP:0005379 10.31 CTSK EGFR ESR1 IGF1R MTOR PGR
6 hematopoietic system MP:0005397 10.29 CTSK EGFR ESR1 IGF1R MMP2 MTOR
7 immune system MP:0005387 10.29 CTSK EGFR ESR1 IGF1R MMP1 MMP2
8 mortality/aging MP:0010768 10.28 DES EGFR ESR1 IGF1R MMP2 MTOR
9 embryo MP:0005380 10.25 EGFR ESR1 IGF1R MTOR PGR RPS6KB1
10 integument MP:0010771 10.11 EGFR ESR1 IGF1R PGR PMEL RPS6
11 muscle MP:0005369 10.11 DES EGFR ESR1 IGF1R MMP2 MTOR
12 craniofacial MP:0005382 10.1 CTSK EGFR IGF1R MMP2 RPS6 SRF
13 neoplasm MP:0002006 10.06 EGFR ESR1 IGF1R MMP1 MMP2 PGR
14 limbs/digits/tail MP:0005371 9.98 CTSK EGFR ESR1 IGF1R PGR RPS6
15 no phenotypic analysis MP:0003012 9.86 EGFR ESR1 MTOR PGR PMEL RHEBL1
16 normal MP:0002873 9.85 EGFR ESR1 MMP2 MTOR PGR RHEBL1
17 respiratory system MP:0005388 9.61 CTSK EGFR ESR1 IGF1R MMP2 MTOR
18 skeleton MP:0005390 9.32 CTSK EGFR ESR1 IGF1R MMP2 MTOR
Sources

Drugs & Therapeutics for Lymphangioleiomyomatosis

About this section

PubMed Health treatment related to Lymphangioleiomyomatosis: 62

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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
3 Antiprotozoal Agents Phase 4
4 Antiparasitic Agents Phase 4
5 Antimalarials Phase 4
6 Immunologic Factors Phase 4
7 Immunosuppressive Agents Phase 4
8
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
9
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
10
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
11
Nintedanib Approved Phase 2 656247-17-5 56843413
12
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
14
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
15
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
16
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
17
Saracatinib Investigational Phase 2 379231-04-6
18
Resveratrol Investigational Phase 2 501-36-0 445154
19 Hormone Antagonists Phase 2
20 Hormones Phase 2
21 Estrogen Receptor Antagonists Phase 2
22 Estrogen Antagonists Phase 2
23 Aromatase Inhibitors Phase 2
24 Estrogens Phase 2
25 Antineoplastic Agents, Hormonal Phase 2
26 Gastrointestinal Agents Phase 2
27 Protein Kinase Inhibitors Phase 1, Phase 2
28 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
29 Liver Extracts Phase 2
30 Antioxidants Phase 2
31 Platelet Aggregation Inhibitors Phase 2
32 Protective Agents Phase 2
33 Hypolipidemic Agents Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
36 Anticholesteremic Agents Phase 1, Phase 2
37 Antimetabolites Phase 1, Phase 2
38 Anti-Infective Agents Phase 2
39 Anti-Bacterial Agents Phase 2
40 Antifungal Agents Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Analgesics, Non-Narcotic Phase 2
43 Analgesics Phase 2
44 Antirheumatic Agents Phase 2
45 Anti-Inflammatory Agents Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Cyclooxygenase Inhibitors Phase 2
48 Cyclooxygenase 2 Inhibitors Phase 2
49 Cola Phase 2
50
Hydroxychloroquine Approved Phase 1 118-42-3 3652

Interventional clinical trials:

(show all 50)
# 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 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Active, not recruiting NCT03525834 Phase 4 everolimus
3 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
4 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
5 Multicenter Interventional Lymphangioleiomyomatosis (LAM) Early Disease Trial Recruiting NCT03150914 Phase 3 Sirolimus
6 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
7 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
8 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
9 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;Everolimus;Everolimus
10 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
11 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
12 LAM Pilot Study With Imatinib Mesylate Completed NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
13 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)
14 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
15 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
16 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial (RESULT) Recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
17 A Pilot Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2 Nintedanib
18 The Efficacy and Safety of Sirolimus for Plastic Bronchitis：a Pilot Study Recruiting NCT03942926 Phase 2 Sirolimus
19 Sirolimus for Cowden Syndrome With Colon Polyposis Recruiting NCT04094675 Phase 2 Sirolimus
20 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
21 A Phase II, Single-arm Open-label Multi-center Study of Sirolimus in Previously Treated Idiopathic Multicentric Castleman Disease Active, not recruiting NCT03933904 Phase 2 Sirolimus
22 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
23 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
24 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
25 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
26 13-H-0051 Bronchodilator Effects of Nebulized Versus Inhaled Albuterol in Subjects With Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 1 albuterol inhaler;albuterol nebulizer
27 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
28 Glutamine PET Imaging in LAM Suspended NCT04388371 Phase 1 Glutamine
29 Definition of the Status of the Human Lung Stem Cell Niches ex Vivo in Tissue Biopsies Performed in Patients With Emphysema and Interstitial Fibrosis Compared to Non-diseased Areas Unknown status NCT02705144
30 Observational Study of Patients With Lymphangioleiomyomatosis and Pulmonary Hypertension Completed NCT00960895
31 Evaluation of the Impact of a Pulmonary Rehabilitation Program on Exercise Capacity in Patients With Lymphangioleiomyomatosis Completed NCT02009241
32 Benefits of Pulmonary Rehabilitation in Patients With Severe Lymphangioleiomyomatosis (LAM) - a Retrospective Analysis Completed NCT04184193
33 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00001869
34 Effect of Fasting on the Size of Lymphangioleiomyomas in Patients With Lymphangioleiomyomatosis Completed NCT00552955
35 Effect of Daily Low Dose Aspirin on Exhaled Inflammatory Mediators in Normal Subjects Completed NCT00898222 aspirin
36 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
37 Role of Helicobacter Pylori and Its Toxins in Pulmonary and Oropharyngeal Disease Completed NCT00366509
38 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Completed NCT02859194
39 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
40 A National Registry on Clinical Manifestations, Genetics, Interventions, and Outcomes in Chinese Patients With Lymphangioleiomyomatosis (LAM-CHINA) Recruiting NCT03193892
41 Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM) Recruiting NCT00001465
42 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
43 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Recruiting NCT02325505
44 National Multicenter Retrospective Study: PEComas: Natural History and Prognostic Recruiting NCT03916575
45 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
46 Creation of a Biospecimen Repository From Patients With Interstitial Lung Diseases (ILD) Recruiting NCT03478826
47 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Recruiting NCT02654340
48 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
49 Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders Recruiting NCT02156115
50 Multicenter International Durability and Safety of Sirolimus in LAM Trial (MIDAS) Active, not recruiting NCT02432560 Sirolimus;Everolimus

Search NIH Clinical Center for Lymphangioleiomyomatosis

Sources

Genetic Tests for Lymphangioleiomyomatosis

About this section

Genetic tests related to Lymphangioleiomyomatosis:

# Genetic test Affiliating Genes
1 Lymphangiomyomatosis 29 TSC1 TSC2
Sources

Anatomical Context for Lymphangioleiomyomatosis

About this section

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

40
Lung, Kidney, Smooth Muscle, Lymph Node, Testes, Endothelial, Uterus
Sources

Publications for Lymphangioleiomyomatosis

About this section

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 1786)
# Title Authors PMID Year
1
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 61 56 54 6
11829138 2002
2
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 56 61 6
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. 54 61 56
9529362 1998
4
Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. 56 61 54
7791386 1995
5
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 56 61
12411287 2003
6
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. 61 56
10633137 2000
7
Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). 56 61
10499073 1999
8
Lung transplantation for lymphangioleiomyomatosis. 61 56
8857007 1996
9
Pulmonary tuberous sclerosis. 61 56
7813275 1995
10
Lymphangioleiomyomatosis. 61 56
8323071 1993
11
Lymphangioleiomyomatosis. Clinical course in 32 patients. 56 61
2215609 1990
12
Complete inactivation of the TSC2 gene leads to formation of hamartomas. 6
10577937 1999
13
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 6
8824881 1996
14
Mutation and cancer: statistical study of retinoblastoma. 6
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. 54 61
20085456 2010
16
CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. 54 61
20177097 2010
17
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 61 54
20235887 2010
18
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. 61 54
20038814 2010
19
Vascular endothelial growth factors C and D induces proliferation of lymphangioleiomyomatosis cells through autocrine crosstalk with endothelium. 61 54
19717640 2009
20
Signal transducer and activator of transcription 3 is required for abnormal proliferation and survival of TSC2-deficient cells: relevance to pulmonary lymphangioleiomyomatosis. 61 54
19596836 2009
21
Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. 61 54
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. 54 61
19602587 2009
23
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 61 54
19419980 2009
24
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 54 61
19443708 2009
25
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. 54 61
19133941 2009
26
Therapeutic targeting of mTOR in tuberous sclerosis. 54 61
19143643 2009
27
Cathepsin-k expression in pulmonary lymphangioleiomyomatosis. 54 61
19060845 2009
28
The pathogenesis and imaging of the tuberous sclerosis complex. 54 61
18414839 2008
29
Activation of the estrogen receptor contributes to the progression of pulmonary lymphangioleiomyomatosis via matrix metalloproteinase-induced cell invasiveness. 54 61
18285421 2008
30
PEComas: the past, the present and the future. 54 61
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. 61 54
18156981 2008
32
TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. 61 54
17975002 2007
33
Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. 54 61
17431222 2007
34
Survivin expression in tuberous sclerosis complex cells. 61 54
17592551 2007
35
Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. 61 54
17105849 2007
36
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. 61 54
16905638 2007
37
Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus. 54 61
17114346 2006
38
Frequent [corrected] hyperphosphorylation of ribosomal protein S6 [corrected] in lymphangioleiomyomatosis-associated angiomyolipomas. 54 61
16575396 2006
39
Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2. 61 54
16424383 2006
40
The role of tuberin in cellular differentiation: are B-Raf and MAPK involved? 54 61
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. 61 54
16192644 2005
42
Unilateral lymphangioleiomyomatosis. 54 61
16077340 2005
43
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. 54 61
15781664 2005
44
Imbalanced plasminogen system in lymphangioleiomyomatosis: potential role of serum response factor. 54 61
15514113 2005
45
TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase. 61 54
15611338 2004
46
A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis. 61 54
15257730 2004
47
Matrix proteoglycans and remodelling of interstitial lung tissue in lymphangioleiomyomatosis. 61 54
15141380 2004
48
Tumour suppressors hamartin and tuberin: intracellular signalling. 54 61
12781866 2003
49
Nongenomic estrogen action regulates tyrosine phosphatase activity and tuberin stability. 61 54
12581886 2003
50
Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. 54 61
12466966 2002
Sources

Variations for Lymphangioleiomyomatosis

About this section

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

6 (show top 50) (show all 91) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1):c.495C>A (p.Cys165Ter)SNV Pathogenic 5102 rs118203388 9:135798748-135798748 9:132923361-132923361
2 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)SNV Pathogenic 12393 rs45483392 16:2137898-2137898 16:2087897-2087897
3 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)SNV Pathogenic 12396 rs45517179 16:2114342-2114342 16:2064341-2064341
4 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)SNV Pathogenic 12397 rs28934872 16:2120572-2120572 16:2070571-2070571
5 TSC2 NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)SNV Pathogenic 12400 rs45517148 16:2110791-2110791 16:2060790-2060790
6 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)deletion Pathogenic 12402 rs137854218 16:2138294-2138311 16:2088293-2088310
7 TSC2 NM_000548.5(TSC2):c.1458del (p.Ser487fs)deletion Pathogenic 626195 rs1567437155 16:2114287-2114287 16:2064286-2064286
8 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)SNV Pathogenic 48796 rs118203542 9:135781440-135781440 9:132906053-132906053
9 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)SNV Pathogenic 48885 rs118203631 9:135779172-135779172 9:132903785-132903785
10 TSC1 NM_000368.4(TSC1):c.491G>A (p.Trp164Ter)SNV Pathogenic 49046 rs118203387 9:135798752-135798752 9:132923365-132923365
11 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)SNV Pathogenic 49083 rs118203427 9:135796805-135796805 9:132921418-132921418
12 TSC2 NM_000548.5(TSC2):c.3610+1G>ASNV Pathogenic 49264 rs45517299 16:2130379-2130379 16:2080378-2080378
13 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)SNV Pathogenic 49471 rs45517412 16:2138294-2138294 16:2088293-2088293
14 TSC2 NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)SNV Pathogenic 49643 rs45469298 16:2120571-2120571 16:2070570-2070570
15 TSC2 NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)SNV Pathogenic 49930 rs45517395 16:2138118-2138118 16:2088117-2088117
16 TSC2 NM_000548.5(TSC2):c.5161-1G>ASNV Pathogenic 49943 rs45517404 16:2138227-2138227 16:2088226-2088226
17 TSC2 NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)SNV Pathogenic 50087 rs45477491 16:2130210-2130210 16:2080209-2080209
18 TSC2 NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)SNV Pathogenic 50131 rs45517222 16:2122880-2122880 16:2072879-2072879
19 TSC2 NM_000548.5(TSC2):c.2318dup (p.Leu773fs)duplication Likely pathogenic 828015 16:2122945-2122946 16:2072944-2072945
20 TSC2 NM_000548.5(TSC2):c.2545+5G>CSNV Likely pathogenic 430442 rs1131691965 16:2124395-2124395 16:2074394-2074394
21 TSC1 NM_000368.4(TSC1):c.1033del (p.Thr345fs)deletion Likely pathogenic 626194 rs1564488264 9:135786497-135786497 9:132911110-132911110
22 TSC2 NM_000548.5(TSC2):c.225+1G>ASNV Likely pathogenic 626196 rs1567387207 16:2100488-2100488 16:2050487-2050487
23 TSC2 NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)SNV Conflicting interpretations of pathogenicity 468061 rs1555513911 16:2134286-2134286 16:2084285-2084285
24 TSC1 NM_000368.4(TSC1):c.2303G>A (p.Arg768His)SNV Conflicting interpretations of pathogenicity 411249 rs1033725987 9:135778080-135778080 9:132902693-132902693
25 TSC2 NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)SNV Conflicting interpretations of pathogenicity 405943 rs760413281 16:2138300-2138300 16:2088299-2088299
26 TSC2 NM_000548.5(TSC2):c.4086C>T (p.Val1362=)SNV Conflicting interpretations of pathogenicity 413692 rs763847509 16:2134309-2134309 16:2084308-2084308
27 TSC2 NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu)SNV Conflicting interpretations of pathogenicity 406039 rs768864353 16:2121853-2121853 16:2071852-2071852
28 TSC2 NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)SNV Conflicting interpretations of pathogenicity 468021 rs1060500939 16:2130319-2130319 16:2080318-2080318
29 TSC2 NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)SNV Conflicting interpretations of pathogenicity 468015 rs749633483 16:2130203-2130203 16:2080202-2080202
30 TSC1 NM_000368.4(TSC1):c.518C>T (p.Ala173Val)SNV Conflicting interpretations of pathogenicity 486571 rs777484049 9:135797351-135797351 9:132921964-132921964
31 TSC2 NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)SNV Conflicting interpretations of pathogenicity 535866 rs764840082 16:2121861-2121861 16:2071860-2071860
32 TSC2 NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)SNV Conflicting interpretations of pathogenicity 535887 rs749593050 16:2122881-2122881 16:2072880-2072880
33 TSC2 NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)SNV Conflicting interpretations of pathogenicity 536003 rs746197874 16:2129653-2129653 16:2079652-2079652
34 TSC2 NM_000548.5(TSC2):c.2295C>G (p.Ala765=)SNV Conflicting interpretations of pathogenicity 626038 rs45509500 16:2122924-2122924 16:2072923-2072923
35 TSC1 NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln)SNV Conflicting interpretations of pathogenicity 41694 rs199755731 9:135779171-135779171 9:132903784-132903784
36 TSC2 NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)SNV Conflicting interpretations of pathogenicity 41740 rs45517333 16:2134448-2134448 16:2084447-2084447
37 TSC2 NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)SNV Conflicting interpretations of pathogenicity 41748 rs45517423 16:2138570-2138570 16:2088569-2088569
38 TSC2 NM_000548.5(TSC2):c.251C>T (p.Ala84Val)SNV Conflicting interpretations of pathogenicity 49212 rs35660529 16:2103368-2103368 16:2053367-2053367
39 TSC2 NM_000548.5(TSC2):c.1678G>A (p.Val560Met)SNV Conflicting interpretations of pathogenicity 65075 rs141631268 16:2115598-2115598 16:2065597-2065597
40 TSC2 NM_000548.5(TSC2):c.1281C>A (p.Ile427=)SNV Conflicting interpretations of pathogenicity 49685 rs45478892 16:2112521-2112521 16:2062520-2062520
41 TSC2 NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)SNV Conflicting interpretations of pathogenicity 65196 rs397515146 16:2110728-2110728 16:2060727-2060727
42 TSC1 NM_000368.4(TSC1):c.941C>T (p.Thr314Met)SNV Conflicting interpretations of pathogenicity 141980 rs373454700 9:135786928-135786928 9:132911541-132911541
43 TSC2 NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)SNV Conflicting interpretations of pathogenicity 184186 rs45505405 16:2105481-2105481 16:2055480-2055480
44 TSC2 NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)SNV Conflicting interpretations of pathogenicity 207659 rs376573446 16:2114406-2114406 16:2064405-2064405
45 TSC2 NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)SNV Conflicting interpretations of pathogenicity 207742 rs747910305 16:2129371-2129371 16:2079370-2079370
46 TSC2 NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)SNV Conflicting interpretations of pathogenicity 237964 rs878854077 16:2112984-2112984 16:2062983-2062983
47 TSC2 NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del)short repeat Conflicting interpretations of pathogenicity 238039 rs878854100 16:2134248-2134250 16:2084247-2084249
48 TSC2 NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)SNV Conflicting interpretations of pathogenicity 318313 rs752953762 16:2115542-2115542 16:2065541-2065541
49 TSC2 NM_000548.5(TSC2):c.*61_*62deldeletion Uncertain significance 50172 rs36032671 16:2138671-2138672 16:2088670-2088671
50 TSC2 NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)SNV Uncertain significance 65229 rs397515167 16:2134956-2134956 16:2084955-2084955

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

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

Sources

Expression for Lymphangioleiomyomatosis

About this section
Search GEO for disease gene expression data for Lymphangioleiomyomatosis.
Sources

Pathways for Lymphangioleiomyomatosis

About this section

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 top 50) (show all 74)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.23 VEGFD VEGFC VEGFA TSC2 TSC1 SRF
2
ERK Signaling 63
Show member pathways
 13.87 VEGFD VEGFC VEGFA TSC2 TSC1 SRF
3
GPCR Pathway 63
Show member pathways
 13.75 VEGFD VEGFC VEGFA SRF MMP2 MMP1
4
TGF-Beta Pathway 63
Show member pathways
 13.58 VEGFD VEGFC VEGFA RPS6KB1 RPS6 MTOR
5
Akt Signaling 63
Show member pathways
 13.46 VEGFD VEGFC TSC2 TSC1 RPS6KB1 MTOR
6
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.29 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
7
Phospholipase-C Pathway 63
Show member pathways
 13.13 VEGFD VEGFC RPS6KB1 MTOR IGF1R ELN
8
TNFR1 Pathway 63
Show member pathways
 13.1 VEGFA TSC2 RPS6KB1 MTOR IGF1R EGFR
9
p70S6K Signaling 63
Show member pathways
 13.03 VEGFD VEGFC TSC2 TSC1 RPS6KB1 RPS6
10
Human cytomegalovirus infection 36
Show member pathways
 12.99 VEGFA TSC2 TSC1 RPS6KB1 MTOR EGFR
11
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.92 SRF RPS6KB1 RPS6 MTOR IGF1R EGFR
12
Endometrial cancer 36
Show member pathways
 12.92 VEGFA TSC2 RPS6KB1 MTOR IGF1R EGFR
13
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.91 VEGFA TSC2 TSC1 RPS6KB1 RPS6 MTOR
14
PI3K-Akt signaling pathway 36
Show member pathways
 12.86 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
15
MAPK signaling pathway 36 1
12.81 VEGFD VEGFC VEGFA SRF IGF1R EGFR
16
Gastric cancer 36
Show member pathways
 12.81 RPS6KB1 PGR MTOR IGF1R ESR1 EGFR
17
Ras signaling pathway 36
Show member pathways
 12.78 VEGFD VEGFC VEGFA IGF1R EGFR
18
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.69 TSC2 RPS6KB1 MTOR MMP2 EGFR
19
ErbB signaling pathway 36 1
Show member pathways
 12.67 VEGFA RPS6KB1 RPS6 MTOR IGF1R EGFR
20
Glioma 36
Show member pathways
 12.63 TSC2 TSC1 RPS6KB1 MTOR MMP2 IGF1R
21
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.56 TSC2 TSC1 SRF RPS6KB1 MTOR IGF1R
22
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.49 TSC2 TSC1 RPS6KB1 RPS6 MTOR IGF1R
23
VEGF Pathway (Qiagen) 63
Show member pathways
 12.47 VEGFD VEGFC VEGFA SRF EGFR
24
mTOR signalling 65
Show member pathways
 12.47 TSC2 TSC1 RPS6KB1 RPS6 MTOR
25
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.46 VEGFD VEGFC RPS6KB1 MTOR IGF1R EGFR
26
Phospholipase D signaling pathway 36
Show member pathways
 12.46 TSC2 TSC1 RPS6KB1 MTOR EGFR
27
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.46 TSC2 TSC1 RPS6KB1 RPS6 RHEBL1 MTOR
28
Development IGF-1 receptor signaling 22
Show member pathways
 12.43 TSC2 TSC1 RPS6KB1 RPS6 MTOR IGF1R
29
RhoGDI Pathway 63
Show member pathways
 12.42 VEGFD VEGFC VEGFA EGFR
30
Relaxin signaling pathway 36
Show member pathways
 12.4 VEGFD VEGFC VEGFA PGR MTOR MMP2
31
Pathways in cancer 36
12.38 VEGFD VEGFC VEGFA RPS6KB1 MTOR MMP2
32
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.35 VEGFA RPS6 MTOR MMP1 EGFR
33
Translational Control 4
12.34 TSC2 TSC1 RPS6KB1 RPS6 MTOR
34
Translation Non-genomic (rapid) action of Androgen Receptor 22
Show member pathways
 12.34 TSC2 RPS6KB1 MTOR MMP2 IGF1R EGFR
35
AMPK Enzyme Complex Pathway 63
Show member pathways
 12.26 TSC2 TSC1 RPS6KB1 MTOR
36
Colorectal Cancer Metastasis 63
12.24 VEGFA MMP2 MMP1 EGFR
37
MAPK Signaling: Mitogens 64
Show member pathways
 12.24 TSC2 TSC1 RPS6KB1 RPS6 MTOR IGF1R
38
Longevity regulating pathway 36
Show member pathways
 12.18 TSC2 TSC1 RPS6KB1 MTOR IGF1R
39
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
12.17 TSC2 RPS6KB1 RPS6 MTOR
40
Autophagy - animal 36
12.13 TSC2 TSC1 RPS6KB1 MTOR IGF1R
41
ErbB1 downstream signaling 1
11.99 SRF RPS6 MTOR EGFR
42
Integrated Breast Cancer Pathway 1
11.99 VEGFA TSC2 TSC1 MTOR MMP1 ESR1
43
AGE-RAGE signaling pathway in diabetic complications 36
11.97 VEGFD VEGFC VEGFA MMP2
44
Glioblastoma Multiforme 63
11.93 TSC2 TSC1 RPS6KB1 MTOR IGF1R EGFR
45
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors 65
Show member pathways
 11.89 VEGFA ESR1 EGFR
46
Rheumatoid arthritis 36
11.89 VEGFA MMP1 CTSK
47
Interferon Pathway 63
11.88 RPS6KB1 RPS6 MTOR
48
HIF-1 signaling pathway 36
11.88 VEGFA RPS6KB1 RPS6 MTOR IGF1R EGFR
49
TP53 Regulates Metabolic Genes 65
11.85 TSC2 TSC1 MTOR
50
Bladder cancer 36 1
11.82 VEGFA MMP2 MMP1 EGFR
Sources

GO Terms for Lymphangioleiomyomatosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 VEGFD VEGFC VEGFA PMEL MMP2 MMP1
2 membrane GO:0016020 9.89 VEGFD VEGFC VEGFA TSC2 TSC1 RPS6KB1
3 platelet alpha granule lumen GO:0031093 9.33 VEGFD VEGFC VEGFA
4 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 VEGFD VEGFC VEGFA IGF1R EGFR
2 angiogenesis GO:0001525 9.91 VEGFD VEGFC VEGFA MMP2
3 positive regulation of cell migration GO:0030335 9.91 VEGFC VEGFA IGF1R EGFR
4 positive regulation of protein kinase B signaling GO:0051897 9.83 MTOR IGF1R ESR1 EGFR
5 positive regulation of protein phosphorylation GO:0001934 9.83 VEGFD VEGFC VEGFA MTOR EGFR
6 extracellular matrix disassembly GO:0022617 9.76 MMP2 MMP1 CTSK
7 positive regulation of epithelial cell proliferation GO:0050679 9.75 VEGFC VEGFA EGFR
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.74 VEGFD VEGFC VEGFA
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.73 MTOR MMP2 EGFR
10 cellular response to amino acid stimulus GO:0071230 9.72 MTOR MMP2 EGFR
11 response to hypoxia GO:0001666 9.72 VEGFD VEGFC VEGFA SRF MMP2
12 positive regulation of endothelial cell proliferation GO:0001938 9.71 VEGFD VEGFC VEGFA MTOR
13 positive regulation of cell division GO:0051781 9.69 VEGFD VEGFC VEGFA
14 collagen catabolic process GO:0030574 9.67 MMP2 MMP1 CTSK
15 negative regulation of insulin receptor signaling pathway GO:0046627 9.65 TSC2 TSC1 RPS6KB1
16 sprouting angiogenesis GO:0002040 9.63 VEGFD VEGFC VEGFA
17 eyelid development in camera-type eye GO:0061029 9.62 SRF EGFR
18 anoikis GO:0043276 9.6 TSC2 MTOR
19 negative regulation of cell size GO:0045792 9.59 TSC1 MTOR
20 intramembranous ossification GO:0001957 9.54 MMP2 CTSK
21 vascular endothelial growth factor signaling pathway GO:0038084 9.54 VEGFD VEGFC VEGFA
22 positive chemotaxis GO:0050918 9.46 VEGFD VEGFC VEGFA TSC2
23 induction of positive chemotaxis GO:0050930 9.43 VEGFD VEGFC VEGFA
24 positive regulation of mast cell chemotaxis GO:0060754 9.13 VEGFD VEGFC VEGFA
25 TOR signaling GO:0031929 8.92 RPS6KB1 RPS6 RHEBL1 MTOR

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 VEGFD VEGFC VEGFA TSC2 TSC1 SRF
2 identical protein binding GO:0042802 9.61 VEGFD VEGFA PMEL PGR MTOR IGF1R
3 ATPase binding GO:0051117 9.58 PGR ESR1 EGFR
4 chemoattractant activity GO:0042056 9.5 VEGFD VEGFC VEGFA
5 nitric-oxide synthase regulator activity GO:0030235 9.37 ESR1 EGFR
6 vascular endothelial growth factor receptor 3 binding GO:0043185 9.26 VEGFD VEGFC
7 vascular endothelial growth factor receptor binding GO:0005172 8.8 VEGFD VEGFC VEGFA
Sources

Sources for Lymphangioleiomyomatosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....