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Lymphangioleiomyomatosis

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lymphangioleiomyomatosis

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MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 57 12 76 53 25 59 75 37 13 55 15 40 73
Lymphangiomyomatosis 57 12 76 25 29 55 6
Lam 57 53 25 59 75 63
Pulmonary Lymphangioleiomyomatosis 12 73
Lymphangioleiomyomatosis, Somatic 57
Lung Lymphangioleiomyomatosis 12
Lymphangio-Myomatosis 53

Characteristics:

Orphanet epidemiological data:

59
lymphangioleiomyomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Worldwide),<1/1000000 (United States),1-9/1000000 (United States),<1/1000000 (France),1-9/1000000 (Germany),1-9/1000000 (Canada),1-9/1000000 (United Kingdom),1-9/1000000 (Switzerland),1-9/1000000 (New Zealand),1-9/1000000 (Australia),1-9/1000000 (Europe),1-9/1000000 (Netherlands); Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare respiratory diseases


Sources

Summaries for Lymphangioleiomyomatosis

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to kidney angiomyolipoma and tuberous sclerosis. An important gene associated with Lymphangioleiomyomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and kidney, and related phenotypes are hydrocephalus and seizures

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.

UniProtKB/Swiss-Prot : 75 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 : 63 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 : 76 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

Description from OMIM: 606690
Sources

Related Diseases for Lymphangioleiomyomatosis

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

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 31.3 MTOR TSC1 TSC2
2 tuberous sclerosis 31.1 MTOR RPS6KB1 TSC1 TSC2
3 perivascular epithelioid cell tumor 30.9 DES PGR TSC2
4 leiomyoma 30.8 DES ESR1 PGR
5 pneumothorax 30.8 ELN MMP2 PGR TSC1
6 benign metastasizing leiomyoma 30.7 DES PGR
7 hepatic angiomyolipoma 30.7 MTOR TSC2
8 lymphangiomatosis 30.6 DES PGR
9 endometrial stromal sarcoma 30.4 DES ESR1 PGR
10 smooth muscle tumor 30.3 DES ESR1 PGR
11 tuberous sclerosis 2 30.2 MTOR TSC1 TSC2
12 angiomyolipoma 30.1 DES ESR1 MTOR PGR TSC1 TSC2
13 renal cell carcinoma, nonpapillary 29.7 MMP2 MTOR TSC1 TSC2
14 breast cancer 25.7 ESR1 MMP1 MMP14 MMP2 MTOR PGR
15 tuberous sclerosis 1 11.3
16 adult hepatocellular carcinoma 10.9 TSC1 TSC2
17 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.9
18 vulvar syringoma 10.8 ESR1 PGR
19 lung leiomyoma 10.8 ESR1 PGR
20 vestibular gland benign neoplasm 10.8 ESR1 PGR
21 bartholin's gland adenoma 10.8 ESR1 PGR
22 glassy cell carcinoma of the cervix 10.8 ESR1 PGR
23 intravenous leiomyomatosis 10.8 DES ESR1
24 vulvar benign neoplasm 10.8 ESR1 PGR
25 trigonitis 10.8 ESR1 PGR
26 multilocular clear cell renal cell carcinoma 10.8 TSC1 TSC2
27 vulvar leiomyoma 10.8 ESR1 PGR
28 predominantly cortical thymoma 10.8 ESR1 PGR
29 breast medullary carcinoma 10.8 ESR1 PGR
30 breast scirrhous carcinoma 10.8 ESR1 PGR
31 epulis 10.8 DES PGR
32 progesterone resistance 10.7 ESR1 PGR
33 progesterone-receptor positive breast cancer 10.7 ESR1 PGR
34 cribriform carcinoma 10.7 ESR1 PGR
35 oncocytic breast carcinoma 10.7 ESR1 PGR
36 senile ectropion 10.7 ELN MMP2
37 endometrial squamous cell carcinoma 10.7 ESR1 PGR
38 gastric signet ring cell adenocarcinoma 10.6 ESR1 PGR
39 uterine benign neoplasm 10.6 ESR1 PGR TSC2
40 reproductive organ benign neoplasm 10.6 ESR1 PGR TSC2
41 spastic entropion 10.6 MMP1 MMP2
42 endometrial mucinous adenocarcinoma 10.6 ESR1 PGR
43 breast papillary carcinoma 10.6 ESR1 PGR TSC2
44 adenosarcoma 10.6 DES ESR1 PGR
45 adenoid basal cell carcinoma 10.6 ESR1 PGR
46 subependymal glioma 10.6 MTOR TSC1 TSC2
47 benign ependymoma 10.6 MTOR TSC1 TSC2
48 congenital lymphedema 10.6 VEGFC VEGFD
49 kidney benign neoplasm 10.6 MTOR TSC1 TSC2
50 apocrine adenocarcinoma 10.6 ESR1 PGR

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis
Sources

Symptoms & Phenotypes for Lymphangioleiomyomatosis

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Clinical features from OMIM:

606690

Human phenotypes related to Lymphangioleiomyomatosis:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
4 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
7 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
8 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
9 emphysema 59 32 frequent (33%) Frequent (79-30%) HP:0002097
10 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
11 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
12 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
13 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
14 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
15 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
16 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
17 atelectasis 59 32 frequent (33%) Frequent (79-30%) HP:0100750
18 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
19 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
20 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
21 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
22 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
23 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
24 abnormal urinary color 59 32 occasional (7.5%) Occasional (29-5%) HP:0012086
25 retinal hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009594
26 pneumothorax 59 32 frequent (33%) Frequent (79-30%) HP:0002107
27 chylopericardium 59 32 occasional (7.5%) Occasional (29-5%) HP:0011852
28 shagreen patch 59 32 occasional (7.5%) Occasional (29-5%) HP:0009721
29 pulmonary infiltrates 59 32 hallmark (90%) Very frequent (99-80%) HP:0002113
30 renal angiomyolipoma 59 32 frequent (33%) Frequent (79-30%) HP:0006772
31 chylothorax 59 32 frequent (33%) Frequent (79-30%) HP:0010310
32 pulmonary lymphangiomyomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0012798
33 ungual fibroma 59 32 frequent (33%) Frequent (79-30%) HP:0100804
34 restrictive ventilatory defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0002091
35 abnormality of the lymphatic system 59 Very frequent (99-80%)
36 renal neoplasm 59 Occasional (29-5%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
2 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 DES ESR1 MMP2 MMP14 RPS6KB1 MYH10
2 homeostasis/metabolism MP:0005376 10.34 DES ESR1 MMP2 CTSK MMP1 MMP14
3 cellular MP:0005384 10.26 MMP14 DES ESR1 CTSK PGR MTOR
4 behavior/neurological MP:0005386 10.25 DES MMP14 ESR1 PGR MTOR MYH10
5 growth/size/body region MP:0005378 10.22 MMP14 ESR1 CTSK MTOR RPS6KB1 MYH10
6 immune system MP:0005387 10.18 MMP14 ESR1 MMP2 CTSK MMP1 RPS6KB1
7 mortality/aging MP:0010768 10.18 MMP14 DES ESR1 MMP2 MTOR RPS6KB1
8 embryo MP:0005380 10.16 MMP14 ESR1 PGR MTOR RPS6KB1 MYH10
9 hematopoietic system MP:0005397 10.16 MMP14 ESR1 CTSK PGR MTOR PMEL
10 endocrine/exocrine gland MP:0005379 10.15 MMP14 ESR1 CTSK PGR MTOR RPS6KB1
11 adipose tissue MP:0005375 10.03 CTSK MMP14 ESR1 MTOR VEGFD RPS6KB1
12 muscle MP:0005369 10.02 MMP14 DES ESR1 MMP2 RPS6KB1 MYH10
13 neoplasm MP:0002006 9.86 ESR1 MMP2 MMP1 RPS6KB1 PGR VEGFD
14 normal MP:0002873 9.81 MMP14 ESR1 MMP2 PGR MTOR MYH10
15 respiratory system MP:0005388 9.5 CTSK MMP14 ESR1 MTOR MMP2 SRF
16 skeleton MP:0005390 9.28 MMP14 ESR1 CTSK PGR MTOR MYH10
Sources

Drugs & Therapeutics for Lymphangioleiomyomatosis

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PubMedHealth 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 againProcedures to shrink angiomyolipomas (AMLs) Lung transplant Hormone therapy

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Antimalarials Phase 4,Phase 1
5 Antiparasitic Agents Phase 4,Phase 1
6 Antiprotozoal Agents Phase 4,Phase 1
7
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
10 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
11 Antifungal Agents Phase 3,Phase 2,Phase 1
12 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
13
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
14
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
15
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
16
Menthol Approved Phase 2,Not Applicable 2216-51-5 16666
17
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
18
Nintedanib Approved Phase 2 656247-17-5 56843413
19
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
20
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
21
Saracatinib Investigational Phase 2,Phase 1 379231-04-6
22 Aromatase Inhibitors Phase 2
23 Estrogen Antagonists Phase 2
24 Estrogens Phase 2
25 Hormone Antagonists Phase 2
26 Hormones Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
28 Steroid Synthesis Inhibitors Phase 2
29 Antineoplastic Agents, Hormonal Phase 2
30 Gastrointestinal Agents Phase 2
31 Antirheumatic Agents Phase 2,Phase 1
32 Analgesics Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 2
36 Antineoplastic Agents, Phytogenic Phase 2
37 Antioxidants Phase 2
38 Peripheral Nervous System Agents Phase 2
39 Platelet Aggregation Inhibitors Phase 2
40 Protective Agents Phase 2
41 Adrenergic Agents Phase 2
42 Adrenergic Agonists Phase 2
43 Adrenergic beta-2 Receptor Agonists Phase 2
44 Adrenergic beta-Agonists Phase 2
45 Albuterol Phase 2
46 Anti-Asthmatic Agents Phase 2
47 Autonomic Agents Phase 2
48 Bronchodilator Agents Phase 2
49 Neurotransmitter Agents Phase 2
50 Respiratory System Agents Phase 2

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 Phase IV Study of Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Not yet recruiting NCT03525834 Phase 4 everolimus
3 Efficacy and Safety of Sirolimus for Treating Lymphangioleiomyomatosis (LAM) Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
4 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
5 Multicenter Interventional Lymphangioleiomyomatosis (LAM) Early Disease Trial Recruiting NCT03150914 Phase 3 Sirolimus
6 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
7 Trial of Aromatase Inhibition in Lymphangioleiomyomatosis Completed NCT01353209 Phase 2 Letrozole;Placebo
8 A Study to Determine the Effectiveness of Escalating Doses of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2 Everolimus;Everolimus;Everolimus
9 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
10 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
11 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
12 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
13 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial Recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
14 Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 2 albuterol inhaler;albuterol nebulizer
15 A Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2 Nintedanib
16 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
17 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
18 LAM Pilot Study With Imatinib Mesylate Recruiting NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
19 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Recruiting NCT02484664 Phase 2 Celecoxib
20 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
21 Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis Completed NCT01687179 Phase 1 sirolimus and hydroxychloroquine
22 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Unknown status NCT02859194 Not Applicable
23 Pulmonary Rehabilitation in Lymphangioleiomyomatosis Completed NCT02009241 Not Applicable
24 Pulmonary Hypertension in Lymphangioleiomyomatosis Completed NCT00960895
25 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
26 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
27 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
28 Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases Completed NCT00366509
29 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
30 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892
31 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
32 Study of the Disease Process of Lymphangioleiomyomatosis Recruiting NCT00001465
33 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
34 Safety and Durability of Sirolimus for Treatment of LAM Recruiting NCT02432560 Sirolimus;Everolimus
35 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Lymphangioleiomyomatosis

Sources

Genetic Tests for Lymphangioleiomyomatosis

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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:

41
Lung, Lymph Node, Kidney, Testes, Smooth Muscle, Liver, Endothelial
Sources

Publications for Lymphangioleiomyomatosis

About this section

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 697)
# Title Authors Year
1
Reply to &amp;quot;Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive&amp;quot;. ( 29469631 )
2018
2
Have Noninvasive Imaging Studies Supplanted the Need for Invasive Hemodynamics: Lessons Learned from Lymphangioleiomyomatosis. ( 29980399 )
2018
3
Chylothorax in a 32-Year-Old Patient with Lymphangioleiomyomatosis after Bilateral Lung Transplant. ( 29408242 )
2018
4
Rapamycin for lymphangioleiomyomatosis: optimal timing and optimal dosage. ( 29438097 )
2018
5
Rates of change in FEV<sub>1</sub> and <i>D</i><sub>LCO</sub> as potential indicators for mTOR inhibitor therapy in premenopausal lymphangioleiomyomatosis patients. ( 29519926 )
2018
6
In situ analysis of mTORC1/2 and cellular metabolism-related proteins in human Lymphangioleiomyomatosis. ( 29885404 )
2018
7
Single lung transplantation for lymphangioleiomyomatosis: a single-center experience in Japan. ( 29808303 )
2018
8
Pseudoneutropenia in lymphangioleiomyomatosis (LAM) patients receiving sirolimus: evaluation in a 100 patient cohort. ( 29577040 )
2018
9
Hemodynamic Mechanisms of Exercise-Induced Pulmonary Hypertension inA Patients with Lymphangioleiomyomatosis: The Role of Exercise Stress Echocardiography. ( 29605474 )
2018
10
Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. ( 29758070 )
2018
11
Pulmonary lymphangioleiomyomatosis and fertility treatment. ( 29228355 )
2018
12
Clinical characteristics in lymphangioleiomyomatosis-related pulmonary hypertension: an observation on 50 patients. ( 29675687 )
2018
13
Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356556 )
2018
14
Correction to: Single lung transplantation for lymphangioleiomyomatosis: a single-center experience in Japan. ( 29948173 )
2018
15
Lymphangioleiomyomatosis: A new relative contraindication for breast conservation therapy. ( 29556574 )
2018
16
A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. ( 29666741 )
2018
17
Lymphangioleiomyomatosis. ( 29874537 )
2018
18
Emerging biomarkers of lymphangioleiomyomatosis. ( 29171770 )
2018
19
Successful treatment of a patient with chyluria due to lymphangioleiomyomatosis using sirolimus. ( 29349035 )
2018
20
The 10,000-Piece Puzzle of Lymphangioleiomyomatosis. ( 29406212 )
2018
21
Reply to: Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356560 )
2018
22
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
23
Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report. ( 29487252 )
2018
24
Recent advances in the management of lymphangioleiomyomatosis. ( 29946430 )
2018
25
Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive. ( 29469627 )
2018
26
Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis. ( 29406234 )
2018
27
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
28
Sporadic lymphangioleiomyomatosis with multiple atypical features: A case report and literature review. ( 29567892 )
2018
29
Immunohistological features related to functional impairment in lymphangioleiomyomatosis. ( 29739412 )
2018
30
Recent advances in the pathobiology and clinical management of lymphangioleiomyomatosis. ( 29927757 )
2018
31
The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. ( 28096282 )
2017
32
Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method. ( 28427470 )
2017
33
Sirolimus and Autophagy Inhibition in Lymphangioleiomyomatosis: Results of a Phase I Clinical Trial. ( 28192114 )
2017
34
Reprogramming patient-derived tumor cells generates model cell lines for tuberous sclerosis-associated lymphangioleiomyomatosis. ( 29344553 )
2017
35
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? ( 28754097 )
2017
36
Experience of Lung Transplantation in Patients with Lymphangioleiomyomatosis at a Brazilian Reference Centre. ( 28823029 )
2017
37
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017
38
CA-125 in Disease Progression and Treatment of Lymphangioleiomyomatosis. ( 28576630 )
2017
39
An extrapulmonary manifestation of lymphangioleiomyomatosis: A rare case report. ( 29132117 )
2017
40
Lymphangioleiomyomatosis: an explosive presentation of a rare disease. ( 28616248 )
2017
41
Metabolic Impact of Rapamycin (Sirolimus) and B-Estradiol Using Mouse Embryonic Fibroblasts as a Model for Lymphangioleiomyomatosis. ( 28577037 )
2017
42
Lymphangioleiomyomatosis (LAM). ( 28289456 )
2017
43
Lung function response and side effects to rapamycin for lymphangioleiomyomatosis: a prospective national cohort study. ( 28993539 )
2017
44
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
45
Pleuroperitoneal Denver shunt insertion for the treatment of refractory chylothorax in a patient with tuberous sclerosis complex and lymphangioleiomyomatosis. ( 29224204 )
2017
46
Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-DubAc syndrome. ( 29220357 )
2017
47
Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings. ( 28584685 )
2017
48
A Phase II Clinical Trial of an Aromatase Inhibitor for Postmenopausal Women with Lymphangioleiomyomatosis. ( 28570161 )
2017
49
Cathepsin K in Lymphangioleiomyomatosis: LAM Cell-Fibroblast Interactions Enhance Protease Activity by Extracellular Acidification. ( 28623674 )
2017
50
Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. ( 28830860 )
2017
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Variations for Lymphangioleiomyomatosis

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UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

75
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Arg611Gln VAR_005650 rs28934872

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.495C> A (p.Cys165Ter) single nucleotide variant Pathogenic rs118203388 GRCh37 Chromosome 9, 135798748: 135798748
2 TSC1 NM_000368.4(TSC1): c.495C> A (p.Cys165Ter) single nucleotide variant Pathogenic rs118203388 GRCh38 Chromosome 9, 132923361: 132923361
3 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
4 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh38 Chromosome 16, 2087897: 2087897
5 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
6 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh38 Chromosome 16, 2064341: 2064341
7 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
8 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh38 Chromosome 16, 2070571: 2070571
9 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
10 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh38 Chromosome 16, 2060790: 2060790
11 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
12 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
13 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
14 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053
15 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
16 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh38 Chromosome 9, 132923365: 132923365
17 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
18 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh38 Chromosome 9, 132921418: 132921418
19 TSC2 NM_000548.4(TSC2): c.3442C> T (p.Gln1148Ter) single nucleotide variant Pathogenic rs45477491 GRCh37 Chromosome 16, 2130210: 2130210
20 TSC2 NM_000548.4(TSC2): c.3442C> T (p.Gln1148Ter) single nucleotide variant Pathogenic rs45477491 GRCh38 Chromosome 16, 2080209: 2080209
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Expression for Lymphangioleiomyomatosis

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Search GEO for disease gene expression data for Lymphangioleiomyomatosis.
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Pathways for Lymphangioleiomyomatosis

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Pathways related to Lymphangioleiomyomatosis according to KEGG:

37
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 mTOR signaling pathway hsa04150
3 Insulin signaling pathway hsa04910

Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.73 DES ELN ESR1 MTOR MYH10 SRF
2
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.21 ESR1 RPS6KB1 TSC1 TSC2 VEGFC VEGFD
3
p70S6K Signaling 64
Show member pathways
 12.96 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
4
Circadian entrainment 37
Show member pathways
 12.93 ESR1 MMP1 MMP2 PGR VEGFC VEGFD
5
PI3K-Akt signaling pathway 37
Show member pathways
 12.86 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
6
Degradation of the extracellular matrix 66
Show member pathways
 12.68 CTSK ELN MMP1 MMP14 MMP2
7
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.58 MMP14 MMP2 MTOR RPS6KB1 TSC2
8
Glioma 37
Show member pathways
 12.55 ESR1 MMP2 MTOR RPS6KB1 TSC1 TSC2
9
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.43 MTOR RPS6KB1 TSC1 TSC2
10
Pathways in cancer 37
12.42 ESR1 MMP1 MMP2 MTOR RPS6KB1 VEGFC
11
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.37 MTOR RPS6KB1 TSC1 TSC2
12
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.37 MTOR RPS6KB1 SRF TSC1 TSC2
13
mTOR signalling 66
Show member pathways
 12.35 MTOR RPS6KB1 TSC1 TSC2
14
Phospholipase D signaling pathway 37
Show member pathways
 12.34 MTOR RPS6KB1 TSC1 TSC2
15
Type I Interferon Signaling Pathways 65
Show member pathways
 12.24 MTOR RPS6KB1 TSC1 TSC2
16
Proteoglycans in cancer 37
12.22 ESR1 MMP2 MTOR RPS6KB1
17
Translational Control 4
12.2 MTOR RPS6KB1 TSC1 TSC2
18
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.11 MTOR RPS6KB1 TSC1 TSC2
19
AKT Signaling Pathway 67
12.1 MTOR RPS6KB1 TSC1 TSC2
20
Longevity regulating pathway 37
Show member pathways
 12.03 MTOR RPS6KB1 TSC1 TSC2
21
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12 MMP2 MTOR RPS6KB1 TSC2
22
Translation Translation regulation by Alpha-1 adrenergic receptors 22
Show member pathways
 11.95 MTOR RPS6KB1 TSC2
23
Thyroid hormone signaling pathway 37
11.93 ESR1 MTOR TSC2
24
Autophagy - animal 37
11.93 MTOR RPS6KB1 TSC1 TSC2
25
Development IGF-1 receptor signaling 22
Show member pathways
 11.91 MTOR RPS6KB1 TSC1 TSC2
26
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.85 MTOR RPS6KB1 TSC1 TSC2
27
AGE-RAGE signaling pathway in diabetic complications 37
11.84 MMP2 VEGFC VEGFD
28
Integrated Breast Cancer Pathway 1
11.84 ESR1 MMP1 MTOR TSC1 TSC2
29
TGF-beta Signaling Pathways 65
11.82 ESR1 MTOR RPS6KB1
30
Glioblastoma Multiforme 64
11.82 MTOR RPS6KB1 TSC1 TSC2
31
TP53 Regulates Metabolic Genes 66
11.76 MTOR TSC1 TSC2
32
Matrix Metalloproteinases 1
Show member pathways
 11.73 CTSK MMP1 MMP14 MMP2
33
Regulation of Telomerase 1
11.63 ESR1 MTOR RPS6KB1
34
Cell adhesion_ECM remodeling 22
11.58 MMP1 MMP14 MMP2
35
Wnt Signaling Pathway Netpath 1
11.49 MTOR TSC1 TSC2
36
mTOR signaling pathway (Pathway Interaction Database) 1
11.41 MTOR RPS6KB1 TSC1 TSC2
37
Follicle Stimulating Hormone (FSH) signaling pathway 1
11.06 MTOR RPS6KB1 TSC2
38
p38 signaling mediated by MAPKAP kinases 1
10.99 SRF TSC2
39
4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression 1
10.94 MTOR TSC1
40
Insulin signalling in human adipocytes (diabetic condition) 1
Show member pathways
 10.88 MTOR RPS6KB1
41
VEGF ligand-receptor interactions 66
Show member pathways
 10.88 VEGFC VEGFD
42
LKB1 signaling events 1
10.88 ESR1 MTOR TSC1 TSC2
43
Sirolimus Pathway, Pharmacokinetics/Pharmacodynamics 61
10.85 MTOR RPS6KB1
44
BDNF-TrkB Signaling 1
10.46 MTOR RPS6KB1 TSC1 TSC2
Sources

GO Terms for Lymphangioleiomyomatosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 ELN MMP1 MMP14 MMP2
2 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.8 MMP14 MMP2 VEGFC VEGFD
2 response to insulin GO:0032868 9.65 MTOR RPS6KB1 TSC1
3 positive regulation of endothelial cell proliferation GO:0001938 9.63 MTOR VEGFC VEGFD
4 cardiac myofibril assembly GO:0055003 9.58 MYH10 SRF
5 TOR signaling GO:0031929 9.58 MTOR RPS6KB1
6 positive regulation of myotube differentiation GO:0010831 9.57 MMP14 MTOR
7 stress fiber assembly GO:0043149 9.56 ELN SRF
8 negative regulation of macroautophagy GO:0016242 9.55 MTOR TSC1
9 induction of positive chemotaxis GO:0050930 9.54 VEGFC VEGFD
10 positive chemotaxis GO:0050918 9.54 TSC2 VEGFC VEGFD
11 anoikis GO:0043276 9.52 MTOR TSC2
12 negative regulation of cell size GO:0045792 9.51 MTOR TSC1
13 long-term memory GO:0007616 9.5 MTOR RPS6KB1 SRF
14 collagen catabolic process GO:0030574 9.46 CTSK MMP1 MMP14 MMP2
15 intramembranous ossification GO:0001957 9.43 CTSK MMP2
16 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 RPS6KB1 TSC1 TSC2
17 positive regulation of mast cell chemotaxis GO:0060754 9.4 VEGFC VEGFD
18 response to hypoxia GO:0001666 9.35 MMP14 MMP2 SRF VEGFC VEGFD
19 extracellular matrix disassembly GO:0022617 9.02 CTSK ELN MMP1 MMP14 MMP2

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

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

Sources for Lymphangioleiomyomatosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
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