LAM
MCID: LYM007
MIFTS: 68

Lymphangioleiomyomatosis (LAM)

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

Aliases & Classifications for Lymphangioleiomyomatosis

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 57 12 76 53 25 59 75 37 13 55 44 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:

Orphanet: 59  
Rare respiratory diseases


Summaries for Lymphangioleiomyomatosis

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 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 p53 signaling pathway and mTOR signaling pathway. The drugs Everolimus and Miconazole 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

Related Diseases for Lymphangioleiomyomatosis

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

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 32.5 MTOR TSC1 TSC2
2 tuberous sclerosis 31.2 MTOR RPS6KB1 TSC1 TSC2
3 kidney angiomyolipoma 30.9 MTOR TSC1 TSC2
4 angiomyolipoma 30.7 DES ESR1 MTOR PGR TSC1 TSC2
5 pneumothorax 30.5 ELN MMP1 MMP2 PGR TSC1
6 leiomyoma 30.5 DES ESR1 PGR
7 benign metastasizing leiomyoma 30.3 DES PGR
8 perivascular epithelioid cell tumor 30.3 DES PGR TSC2
9 hepatic angiomyolipoma 30.2 MTOR TSC2
10 endometrial stromal sarcoma 30.1 DES ESR1 PGR
11 lymphangiomatosis 30.0 DES PGR
12 intravenous leiomyomatosis 30.0 DES ESR1
13 smooth muscle tumor 29.9 DES ESR1 PGR
14 tuberous sclerosis 2 29.9 MTOR TSC1 TSC2
15 breast cancer 28.8 ESR1 MMP1 MMP14 MMP2 MTOR PGR
16 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1
17 adult hepatocellular carcinoma 10.3 TSC1 TSC2
18 syringoma 10.3 DES ESR1
19 vestibular gland benign neoplasm 10.3 ESR1 PGR
20 bartholin's gland adenoma 10.3 ESR1 PGR
21 vulvar syringoma 10.3 ESR1 PGR
22 glassy cell carcinoma of the cervix 10.3 ESR1 PGR
23 lung leiomyoma 10.3 ESR1 PGR
24 vulvar benign neoplasm 10.2 ESR1 PGR
25 trigonitis 10.2 ESR1 PGR
26 vulvar leiomyoma 10.2 ESR1 PGR
27 pneumothorax, primary spontaneous 10.2
28 epulis 10.2 DES PGR
29 predominantly cortical thymoma 10.2 ESR1 PGR
30 breast medullary carcinoma 10.2 ESR1 PGR
31 breast scirrhous carcinoma 10.2 ESR1 PGR
32 bartholin's gland benign neoplasm 10.2 ESR1 PGR
33 oncocytic breast carcinoma 10.2 ESR1 PGR
34 cerebral aneurysms 10.2 ELN MMP2
35 senile ectropion 10.2 ELN MMP2
36 progesterone-receptor positive breast cancer 10.2 ESR1 PGR
37 progesterone resistance 10.2 ESR1 PGR
38 endometrial squamous cell carcinoma 10.2 ESR1 PGR
39 cribriform carcinoma 10.2 ESR1 PGR
40 lung disease 10.2
41 endometrial mucinous adenocarcinoma 10.2 ESR1 PGR
42 spastic entropion 10.2 MMP1 MMP2
43 adenoid basal cell carcinoma 10.2 ESR1 PGR
44 congenital lymphedema 10.2 VEGFC VEGFD
45 uterine benign neoplasm 10.2 ESR1 PGR TSC2
46 breast adenoid cystic carcinoma 10.2 ESR1 PGR
47 subependymal glioma 10.2 MTOR TSC1 TSC2
48 benign ependymoma 10.2 MTOR TSC1 TSC2
49 apocrine adenocarcinoma 10.2 ESR1 PGR
50 adenosarcoma 10.2 DES ESR1 PGR

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis

Symptoms & Phenotypes for Lymphangioleiomyomatosis

Clinical features from OMIM:

606690

Human phenotypes related to Lymphangioleiomyomatosis:

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 MMP14 MMP2 MTOR MYH10
2 homeostasis/metabolism MP:0005376 10.34 CTSK DES ESR1 MMP1 MMP14 MMP2
3 cellular MP:0005384 10.26 CTSK DES ESR1 MMP14 MTOR MYH10
4 behavior/neurological MP:0005386 10.25 DES ESR1 MMP14 MTOR MYH10 PGR
5 growth/size/body region MP:0005378 10.22 CTSK ESR1 MMP14 MMP2 MTOR MYH10
6 immune system MP:0005387 10.18 CTSK ESR1 MMP1 MMP14 MMP2 MTOR
7 mortality/aging MP:0010768 10.18 DES ESR1 MMP14 MMP2 MTOR MYH10
8 embryo MP:0005380 10.16 ESR1 MMP14 MTOR MYH10 PGR RPS6KB1
9 hematopoietic system MP:0005397 10.16 CTSK ESR1 MMP14 MMP2 MTOR PGR
10 endocrine/exocrine gland MP:0005379 10.15 CTSK ESR1 MMP14 MTOR PGR RPS6KB1
11 adipose tissue MP:0005375 10.03 CTSK ESR1 MMP14 MTOR RPS6KB1 VEGFD
12 muscle MP:0005369 10.02 DES ESR1 MMP14 MMP2 MTOR MYH10
13 neoplasm MP:0002006 9.86 ESR1 MMP1 MMP2 PGR RPS6KB1 TSC1
14 normal MP:0002873 9.81 ESR1 MMP14 MMP2 MTOR MYH10 PGR
15 respiratory system MP:0005388 9.5 CTSK ESR1 MMP14 MMP2 MTOR SRF
16 skeleton MP:0005390 9.28 CTSK ESR1 MMP14 MMP2 MTOR MYH10

Drugs & Therapeutics for Lymphangioleiomyomatosis

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 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
8 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
9 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antiparasitic Agents Phase 4,Phase 1
12 Antiprotozoal Agents Phase 4,Phase 1
13 Antimalarials Phase 4,Phase 1
14
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
15
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
16
Nintedanib Approved Phase 2 656247-17-5 56843413
17
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
18
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
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 Anti-Inflammatory Agents Phase 2
23 Analgesics, Non-Narcotic Phase 2
24 Anti-Inflammatory Agents, Non-Steroidal Phase 2
25 Antirheumatic Agents Phase 2,Phase 1
26 Analgesics Phase 2
27 Platelet Aggregation Inhibitors Phase 2
28 Antioxidants Phase 2
29 Antineoplastic Agents, Phytogenic Phase 2
30 Peripheral Nervous System Agents Phase 2,Phase 1
31 Protective Agents Phase 2
32 Hormone Antagonists Phase 2
33 Aromatase Inhibitors Phase 2
34 Estrogen Receptor Antagonists Phase 2
35 Steroid Synthesis Inhibitors Phase 2
36 Estrogen Antagonists Phase 2
37 Estrogens Phase 2
38 Hormones Phase 2
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
40 Liver Extracts Phase 2
41 Antineoplastic Agents, Hormonal Phase 2
42 Gastrointestinal Agents Phase 2
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
44 Anticholesteremic Agents Phase 1, Phase 2
45 Lipid Regulating Agents Phase 1, Phase 2
46 Antimetabolites Phase 1, Phase 2
47 Hypolipidemic Agents Phase 1, Phase 2
48 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
49 Protein Kinase Inhibitors Phase 1, Phase 2
50 Cyclooxygenase 2 Inhibitors Phase 2

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. 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 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial Recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
8 Trial of Aromatase Inhibition in Lymphangioleiomyomatosis Completed NCT01353209 Phase 2 Letrozole;Placebo
9 A Study to Determine the Effectiveness of Escalating Doses of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2 Everolimus;Everolimus;Everolimus
10 A Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2 Nintedanib
11 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
12 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
13 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)
14 Safety of Simvastatin in LAM and TSC Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
15 LAM Pilot Study With Imatinib Mesylate Recruiting NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
16 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
17 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
18 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
19 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
20 Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 1 albuterol inhaler;albuterol nebulizer
21 Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis Completed NCT01687179 Phase 1 "Sirolimus" and "Hydroxychloroquine" 200 mg;"Sirolimus" and "Hydroxychloroquine" 400 mg
22 Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
23 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
24 Pulmonary Rehabilitation in Lymphangioleiomyomatosis Completed NCT02009241 Not Applicable
25 Pulmonary Hypertension in Lymphangioleiomyomatosis Completed NCT00960895
26 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892
27 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
28 Study of the Disease Process of Lymphangioleiomyomatosis Recruiting NCT00001465
29 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
30 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
31 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
32 Safety and Durability of Sirolimus for Treatment of LAM Recruiting NCT02432560 Sirolimus;Everolimus
33 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
34 Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases Completed NCT00366509
35 Creation of a Biospecimen Repository From Patients With Interstitial Lung Diseases (ILD) Recruiting NCT03478826
36 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Completed NCT02859194 Not Applicable
37 Lymphatic Anomalies Registry Recruiting NCT02399527

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 29 TSC1 TSC2

Anatomical Context for Lymphangioleiomyomatosis

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

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

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 924)
# Title Authors Year
1
Coexistent sarcoidosis and lymphangioleiomyomatosis in a patient with cystic lung disease. ( 30519468 )
2019
2
Pregnancy unmasking symptoms of undiagnosed lymphangioleiomyomatosis: Case report and review of literature. ( 30555778 )
2019
3
Reply to &amp;quot;Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive&amp;quot;. ( 29469631 )
2018
4
Have Noninvasive Imaging Studies Supplanted the Need for Invasive Hemodynamics: Lessons Learned from Lymphangioleiomyomatosis. ( 29980399 )
2018
5
Chylothorax in a 32-Year-Old Patient with Lymphangioleiomyomatosis after Bilateral Lung Transplant. ( 29408242 )
2018
6
Rapamycin for lymphangioleiomyomatosis: optimal timing and optimal dosage. ( 29438097 )
2018
7
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
8
In situ analysis of mTORC1/2 and cellular metabolism-related proteins in human Lymphangioleiomyomatosis. ( 29885404 )
2018
9
Single lung transplantation for lymphangioleiomyomatosis: a single-center experience in Japan. ( 29808303 )
2018
10
Pseudoneutropenia in lymphangioleiomyomatosis (LAM) patients receiving sirolimus: evaluation in a 100 patient cohort. ( 29577040 )
2018
11
Hemodynamic Mechanisms of Exercise-Induced Pulmonary Hypertension inA Patients with Lymphangioleiomyomatosis: The Role of Exercise Stress Echocardiography. ( 29605474 )
2018
12
Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. ( 29758070 )
2018
13
Pulmonary lymphangioleiomyomatosis and fertility treatment. ( 29228355 )
2018
14
Clinical characteristics in lymphangioleiomyomatosis-related pulmonary hypertension: an observation on 50 patients. ( 29675687 )
2018
15
Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356556 )
2018
16
Correction to: Single lung transplantation for lymphangioleiomyomatosis: a single-center experience in Japan. ( 29948173 )
2018
17
Lymphangioleiomyomatosis: A new relative contraindication for breast conservation therapy. ( 29556574 )
2018
18
A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. ( 29666741 )
2018
19
Lymphangioleiomyomatosis. ( 29874537 )
2018
20
Emerging biomarkers of lymphangioleiomyomatosis. ( 29171770 )
2018
21
Successful treatment of a patient with chyluria due to lymphangioleiomyomatosis using sirolimus. ( 29349035 )
2018
22
The 10,000-Piece Puzzle of Lymphangioleiomyomatosis. ( 29406212 )
2018
23
Reply to: Treatment of Pulmonary Lymphangioleiomyomatosis During Pregnancy. ( 29356560 )
2018
24
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
25
Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report. ( 29487252 )
2018
26
Recent advances in the management of lymphangioleiomyomatosis. ( 29946430 )
2018
27
Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive. ( 29469627 )
2018
28
Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis. ( 29406234 )
2018
29
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
30
Sporadic lymphangioleiomyomatosis with multiple atypical features: A case report and literature review. ( 29567892 )
2018
31
Immunohistological features related to functional impairment in lymphangioleiomyomatosis. ( 29739412 )
2018
32
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. ( 30192751 )
2018
33
Successful Sirolimus Treatment of Lymphangioleiomyomatosis in a Hepatitis B Virus Carrier. ( 30333386 )
2018
34
Efficacy and safety of transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: A report of 24 consecutive patients. ( 28960664 )
2018
35
The Lymphangioleiomyomatosis Lung Cell and Its Human Cell Models. ( 29406787 )
2018
36
Functional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study. ( 29458386 )
2018
37
Recent advances in the pathobiology and clinical management of lymphangioleiomyomatosis. ( 29927757 )
2018
38
Roles of human epidermal growth factor receptor family in pulmonary lymphangioleiomyomatosis. ( 30030119 )
2018
39
The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis. ( 30093573 )
2018
40
Immune Checkpoint Ligand PD-L1 Is Upregulated in Pulmonary Lymphangioleiomyomatosis. ( 30095976 )
2018
41
The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis. ( 30107845 )
2018
42
Lymphangioleiomyomatosis (LAM). ( 30109949 )
2018
43
COPD assessment test as a possible tool for evaluating health-related quality of life in lymphangioleiomyomatosis. ( 30143460 )
2018
44
Circulating Biomarkers From the Phase 1 Trial of Sirolimus and Autophagy Inhibition for Patients With Lymphangioleiomyomatosis. ( 30144422 )
2018
45
Could Immunotherapy Sink Its Teeth into Lymphangioleiomyomatosis? ( 30157385 )
2018
46
Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment. ( 30214240 )
2018
47
Efficacy of sirolimus for the prevention of recurrent pneumothorax in patients with lymphangioleiomyomatosis: a case series. ( 30241551 )
2018
48
Dysregulation of the endothelin pathway in lymphangioleiomyomatosis with no direct effect on cell proliferation and migration. ( 30279475 )
2018
49
Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis. ( 30291925 )
2018
50
Incidental lymphangioleiomyomatosis in the lymph nodes of gynecologic surgical specimens. ( 30336310 )
2018

Variations for Lymphangioleiomyomatosis

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 top 50) (show all 98)
# 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.2075G> A (p.Arg692Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199755731 GRCh37 Chromosome 9, 135779171: 135779171
14 TSC1 NM_000368.4(TSC1): c.2075G> A (p.Arg692Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199755731 GRCh38 Chromosome 9, 132903784: 132903784
15 TSC1 NM_000368.4(TSC1): c.965T> C (p.Met322Thr) single nucleotide variant Benign rs1073123 GRCh37 Chromosome 9, 135786904: 135786904
16 TSC1 NM_000368.4(TSC1): c.965T> C (p.Met322Thr) single nucleotide variant Benign rs1073123 GRCh38 Chromosome 9, 132911517: 132911517
17 TSC2 NM_000548.4(TSC2): c.5383C> T (p.Arg1795Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs45517423 GRCh37 Chromosome 16, 2138570: 2138570
18 TSC2 NM_000548.4(TSC2): c.5383C> T (p.Arg1795Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs45517423 GRCh38 Chromosome 16, 2088569: 2088569
19 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
20 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053
21 TSC1 NM_000368.4(TSC1): c.2829C> T (p.Ala943=) single nucleotide variant Benign rs4962081 GRCh37 Chromosome 9, 135772717: 135772717
22 TSC1 NM_000368.4(TSC1): c.2829C> T (p.Ala943=) single nucleotide variant Benign rs4962081 GRCh38 Chromosome 9, 132897330: 132897330
23 TSC1 NM_000368.4(TSC1): c.3195G> A (p.Thr1065=) single nucleotide variant Benign/Likely benign rs118203746 GRCh37 Chromosome 9, 135771922: 135771922
24 TSC1 NM_000368.4(TSC1): c.3195G> A (p.Thr1065=) single nucleotide variant Benign/Likely benign rs118203746 GRCh38 Chromosome 9, 132896535: 132896535
25 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
26 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh38 Chromosome 9, 132923365: 132923365
27 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
28 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh38 Chromosome 9, 132921418: 132921418
29 TSC1 NM_000368.4(TSC1): c.891T> G (p.Tyr297Ter) single nucleotide variant not provided rs118203461 GRCh37 Chromosome 9, 135787691: 135787691
30 TSC1 NM_000368.4(TSC1): c.891T> G (p.Tyr297Ter) single nucleotide variant not provided rs118203461 GRCh38 Chromosome 9, 132912304: 132912304
31 TSC2 NM_000548.4(TSC2): c.1578C> T (p.Ser526=) single nucleotide variant Benign/Likely benign rs34012042 GRCh37 Chromosome 16, 2114407: 2114407
32 TSC2 NM_000548.4(TSC2): c.1578C> T (p.Ser526=) single nucleotide variant Benign/Likely benign rs34012042 GRCh38 Chromosome 16, 2064406: 2064406
33 TSC2 NM_000548.4(TSC2): c.251C> T (p.Ala84Val) single nucleotide variant Benign/Likely benign rs35660529 GRCh37 Chromosome 16, 2103368: 2103368
34 TSC2 NM_000548.4(TSC2): c.251C> T (p.Ala84Val) single nucleotide variant Benign/Likely benign rs35660529 GRCh38 Chromosome 16, 2053367: 2053367
35 TSC2 NM_000548.4(TSC2): c.3610+1G> A single nucleotide variant not provided rs45517299 GRCh37 Chromosome 16, 2130379: 2130379
36 TSC2 NM_000548.4(TSC2): c.3610+1G> A single nucleotide variant not provided rs45517299 GRCh38 Chromosome 16, 2080378: 2080378
37 TSC2 NM_000548.4(TSC2): c.3755C> G (p.Ser1252Ter) single nucleotide variant not provided rs45517309 GRCh37 Chromosome 16, 2131740: 2131740
38 TSC2 NM_000548.4(TSC2): c.3755C> G (p.Ser1252Ter) single nucleotide variant not provided rs45517309 GRCh38 Chromosome 16, 2081739: 2081739
39 TSC2 NM_000548.4(TSC2): c.529_532delCTTC (p.Leu177Trpfs) deletion not provided rs137854207 GRCh37 Chromosome 16, 2105450: 2105453
40 TSC2 NM_000548.4(TSC2): c.529_532delCTTC (p.Leu177Trpfs) deletion not provided rs137854207 GRCh38 Chromosome 16, 2055449: 2055452
41 TSC2 NM_000548.4(TSC2): c.781C> T (p.Arg261Trp) single nucleotide variant Benign/Likely benign rs45517130 GRCh37 Chromosome 16, 2107112: 2107112
42 TSC2 NM_000548.4(TSC2): c.781C> T (p.Arg261Trp) single nucleotide variant Benign/Likely benign rs45517130 GRCh38 Chromosome 16, 2057111: 2057111
43 TSC2 NM_000548.4(TSC2): c.880G> A (p.Gly294Arg) single nucleotide variant not provided rs45517139 GRCh37 Chromosome 16, 2108779: 2108779
44 TSC2 NM_000548.4(TSC2): c.880G> A (p.Gly294Arg) single nucleotide variant not provided rs45517139 GRCh38 Chromosome 16, 2058778: 2058778
45 TSC2 NM_000548.4(TSC2): c.4536C> T (p.Asp1512=) single nucleotide variant Benign/Likely benign rs35986575 GRCh37 Chromosome 16, 2134994: 2134994
46 TSC2 NM_000548.4(TSC2): c.4536C> T (p.Asp1512=) single nucleotide variant Benign/Likely benign rs35986575 GRCh38 Chromosome 16, 2084993: 2084993
47 TSC2 NM_000548.4(TSC2): c.4249delC (p.Arg1417Glyfs) deletion not provided rs137854055 GRCh37 Chromosome 16, 2134472: 2134472
48 TSC2 NM_000548.4(TSC2): c.4249delC (p.Arg1417Glyfs) deletion not provided rs137854055 GRCh38 Chromosome 16, 2084471: 2084471
49 TSC2 NM_000548.4(TSC2): c.2580T> C (p.Phe860=) single nucleotide variant Benign/Likely benign rs13337626 GRCh37 Chromosome 16, 2125834: 2125834
50 TSC2 NM_000548.4(TSC2): c.2580T> C (p.Phe860=) single nucleotide variant Benign/Likely benign rs13337626 GRCh38 Chromosome 16, 2075833: 2075833

Expression for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for Lymphangioleiomyomatosis

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
Show member pathways
13.7 DES ELN ESR1 MTOR MYH10 SRF
2
Show member pathways
13.21 ESR1 RPS6KB1 TSC1 TSC2 VEGFC VEGFD
3
Show member pathways
12.96 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
4
Show member pathways
12.91 ESR1 MMP1 MMP2 PGR VEGFC VEGFD
5
Show member pathways
12.87 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
6
Show member pathways
12.67 CTSK ELN MMP1 MMP14 MMP2
7
Show member pathways
12.58 MMP14 MMP2 MTOR RPS6KB1 TSC2
8
Show member pathways
12.52 ESR1 MMP2 MTOR RPS6KB1 TSC1 TSC2
9
Show member pathways
12.43 MTOR RPS6KB1 TSC1 TSC2
10 12.42 ESR1 MMP1 MMP2 MTOR RPS6KB1 VEGFC
11
Show member pathways
12.37 MTOR RPS6KB1 TSC1 TSC2
12
Show member pathways
12.36 MTOR RPS6KB1 SRF TSC1 TSC2
13
Show member pathways
12.35 MTOR RPS6KB1 TSC1 TSC2
14
Show member pathways
12.33 MTOR RPS6KB1 TSC1 TSC2
15
Show member pathways
12.32 MTOR RPS6KB1 TSC1 TSC2
16
Show member pathways
12.23 MTOR RPS6KB1 TSC1 TSC2
17 12.22 ESR1 MMP2 MTOR RPS6KB1
18 12.19 MTOR RPS6KB1 TSC1 TSC2
19
Show member pathways
12.14 MTOR RPS6KB1 TSC1 TSC2
20
Show member pathways
12.09 MTOR RPS6KB1 TSC1 TSC2
21 12.03 MTOR RPS6KB1 TSC1 TSC2
22
Show member pathways
12 MTOR RPS6KB1 TSC1 TSC2
23
Show member pathways
11.98 MMP2 MTOR RPS6KB1 TSC2
24
Show member pathways
11.95 MTOR RPS6KB1 TSC2
25 11.93 ESR1 MTOR TSC2
26 11.9 MTOR RPS6KB1 TSC1 TSC2
27 11.84 MMP2 VEGFC VEGFD
28 11.84 ESR1 MMP1 MTOR TSC1 TSC2
29 11.82 ESR1 MTOR RPS6KB1
30 11.8 MTOR RPS6KB1 TSC1 TSC2
31 11.76 MTOR TSC1 TSC2
32
Show member pathways
11.7 CTSK MMP1 MMP14 MMP2
33 11.63 ESR1 MTOR RPS6KB1
34 11.59 MMP1 MMP14 MMP2
35 11.48 MTOR TSC1 TSC2
36 11.41 MTOR RPS6KB1 TSC1 TSC2
37 11.04 MTOR RPS6KB1 TSC2
38 10.99 SRF TSC2
39 10.94 MTOR TSC1
40
Show member pathways
10.88 MTOR RPS6KB1
41
Show member pathways
10.88 VEGFC VEGFD
42 10.88 ESR1 MTOR TSC1 TSC2
43 10.85 MTOR RPS6KB1
44 10.46 MTOR RPS6KB1 TSC1 TSC2

GO Terms for Lymphangioleiomyomatosis

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

# Name GO ID Score Top Affiliating Genes
1 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 20)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.8 MMP14 MMP2 VEGFC VEGFD
2 positive regulation of endothelial cell proliferation GO:0001938 9.65 MTOR VEGFC VEGFD
3 response to insulin GO:0032868 9.63 MTOR RPS6KB1 TSC1
4 cardiac myofibril assembly GO:0055003 9.59 MYH10 SRF
5 stress fiber assembly GO:0043149 9.58 ELN SRF
6 TOR signaling GO:0031929 9.58 MTOR RPS6KB1
7 vascular endothelial growth factor signaling pathway GO:0038084 9.57 VEGFC VEGFD
8 positive regulation of myotube differentiation GO:0010831 9.56 MMP14 MTOR
9 induction of positive chemotaxis GO:0050930 9.55 VEGFC VEGFD
10 response to hypoxia GO:0001666 9.55 MMP14 MMP2 SRF VEGFC VEGFD
11 negative regulation of macroautophagy GO:0016242 9.54 MTOR TSC1
12 positive chemotaxis GO:0050918 9.54 TSC2 VEGFC VEGFD
13 anoikis GO:0043276 9.52 MTOR TSC2
14 negative regulation of cell size GO:0045792 9.51 MTOR TSC1
15 negative regulation of insulin receptor signaling pathway GO:0046627 9.5 RPS6KB1 TSC1 TSC2
16 intramembranous ossification GO:0001957 9.43 CTSK MMP2
17 long-term memory GO:0007616 9.43 MTOR RPS6KB1 SRF
18 positive regulation of mast cell chemotaxis GO:0060754 9.4 VEGFC VEGFD
19 extracellular matrix disassembly GO:0022617 9.26 CTSK MMP1 MMP14 MMP2
20 collagen catabolic process GO:0030574 8.92 CTSK MMP1 MMP14 MMP2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 DES ESR1 MTOR PGR PMEL RPS6KB1
2 protein binding GO:0005515 9.53 CTSK DES ELN ESR1 MMP14 MMP2
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 8.96 VEGFC VEGFD

Sources for Lymphangioleiomyomatosis

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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