LAM
MCID: LYM007
MIFTS: 66

Lymphangioleiomyomatosis (LAM) malady

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

Aliases & Classifications for Lymphangioleiomyomatosis

Aliases & Descriptions for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 54 12 50 25 56 66 13 52 14 69
Lam 50 25 56 66
Lymphangiomyomatosis 12 25 52
Pulmonary Lymphangioleiomyomatosis 12 69
Lymphangio-Myomatosis 50 29
Lymphangioleiomyomatosis, Somatic 54
Lung Lymphangioleiomyomatosis 12

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare respiratory diseases


External Ids:

OMIM 54 606690
Disease Ontology 12 DOID:3319
NCIt 47 C38153
SNOMED-CT 64 277844007
Orphanet 56 ORPHA538
MESH via Orphanet 43 D018192
UMLS via Orphanet 70 C0751674
ICD10 via Orphanet 34 D48.7
MedGen 40 C0751674
UMLS 69 C0349649

Summaries for Lymphangioleiomyomatosis

NIH Rare Diseases : 50 lymphangioleiomyomatosis (lim-fan-je-o-li-o-mi-o-ma-to-sis), or lam, is a rare lung disease that mostly affects women in their mid-forties. in lam, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. over time, these lam cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. they also destroy the normal lung tissue and replace it with cysts. as a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body’s other organs. more than 1 out of every 3 people with lam also develops growths called angiomyolipomas, or amls, in their kidneys. people with lam also may develop:growths in other organs, including the liver and brain large tumors on their lymph nodes there are two forms of lam:sporadic lam, which occurs for unknown reasons lam that occurs in people with a rare inherited disease called tuberous sclerosis complex. this is often a milder form. last updated: 7/16/2013

MalaCards based summary : Lymphangioleiomyomatosis, also known as lam, is related to tsc1-related lymphangioleiomyomatosis and tuberous sclerosis-1, and has symptoms including fatigue, dyspnea and fever. An important gene associated with Lymphangioleiomyomatosis is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways are ERK Signaling and p70S6K Signaling. The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related phenotypes are Decreased viability with paclitaxel and cardiovascular system

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 : 66 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.

Wikipedia : 71 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

Description from OMIM: 606690

Related Diseases for Lymphangioleiomyomatosis

Diseases in the Lymphangioleiomyomatosis family:

Tsc1-Related Lymphangioleiomyomatosis

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

(show top 50) (show all 133)
id Related Disease Score Top Affiliating Genes
1 tsc1-related lymphangioleiomyomatosis 11.8
2 tuberous sclerosis-1 10.8
3 tuberous sclerosis 10.4
4 angiomyolipoma 10.3
5 melorheostosis with osteopoikilosis 10.3 TSC1 TSC2
6 bartholin's gland benign neoplasm 10.3 ESR1 PGR
7 hemolytic anemia due to adenylate kinase deficiency 10.3 MTOR TSC1
8 cardiovascular organ benign neoplasm 10.3 ESR1 PGR
9 appendix leiomyoma 10.3 ESR1 PGR
10 bronchus adenoma 10.3 ESR1 PGR
11 glioma 10.3 ESR1 PGR
12 ovarian benign neoplasm 10.3 ESR1 PGR
13 plexiform neurofibroma 10.3 ESR1 PGR
14 paranasal sinus disease 10.3 ESR1 PGR
15 lymphomatous thyroiditis 10.3 DES PGR TSC2
16 sebaceous adenoma 10.2 DES PGR TSC2
17 pilocytic astrocytoma 10.2 MTOR TSC1 TSC2
18 pleomorphic xanthoastrocytoma 10.2 MTOR TSC1 TSC2
19 deafness, autosomal recessive 21 10.2 ESR1 PGR
20 auricular cancer 10.2 MTOR TSC1 TSC2
21 rectal neoplasm 10.2 DES ESR1 PGR
22 osteoblastoma 10.2 ESR1 PGR TSC2
23 gallbladder cancer 10.2 MTOR TSC1 TSC2
24 t-cell adult acute lymphocytic leukemia 10.2 ESR1 PGR TSC2
25 biliary tract neoplasm 10.2 ESR1 PGR TSC2
26 pilar sheath acanthoma 10.2 DES ESR1 PGR
27 cervical lymphoepithelioma-like carcinoma 10.2 ESR1 PGR
28 haverhill fever 10.2 ESR1 MMP2 PGR
29 dental caries 10.2 ESR1 MMP2 PGR
30 nasal cavity disease 10.2 ESR1 MMP2 PGR
31 gastrointestinal lymphoma 10.2 MTOR TSC1 TSC2
32 kleptomania 10.2 MMP1 MMP2
33 anomalous left coronary artery from the pulmonary artery 10.2 ESR1 MTOR PGR
34 histiocytic and dendritic cell cancer 10.2 ESR1 PGR
35 congenital myasthenic syndrome 10.2 DES VEGFC
36 progesterone-receptor negative breast cancer 10.2 ESR1 MTOR PGR
37 black piedra 10.2 DES ESR1 PGR
38 chronic polyneuropathy 10.2 ELN MMP2 TSC1 TSC2
39 neuropathy, hereditary sensory, type id 10.1 MMP14 MMP2
40 anisomastia 10.1 MMP14 MMP2
41 atypical lipomatous tumor 10.1 ESR1 PGR
42 trachea squamous cell carcinoma 10.1 ESR1 MMP2 PGR
43 algoneurodystrophy 10.1 ELN MMP1 MMP2
44 pneumothorax 10.1
45 breast abscess 10.1 ELN MMP1 MMP2
46 organ system benign neoplasm 10.1 ESR1 PGR RPS6KB1 TSC2
47 small intestinal vasoactive intestinal peptide producing tumor 10.1 DES ESR1
48 focal cortical dysplasia, taylor balloon cell type 10.1 MTOR RPS6KB1 TSC1 TSC2
49 tetanus neonatorum 10.1 MTOR RPS6KB1 TSC1 TSC2
50 polycythemia 10.1 MTOR PGR TSC1 TSC2

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:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Occasional (29-5%) HP:0012378
2 dyspnea 56 32 Very frequent (99-80%) HP:0002094
3 fever 56 32 Occasional (29-5%) HP:0001945
4 seizures 56 32 Occasional (29-5%) HP:0001250
5 hemoptysis 56 32 Occasional (29-5%) HP:0002105
6 chest pain 56 32 Very frequent (99-80%) HP:0100749
7 abdominal pain 56 32 Frequent (79-30%) HP:0002027
8 macule 56 32 Occasional (29-5%) HP:0012733
9 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
10 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
11 optic atrophy 56 32 Occasional (29-5%) HP:0000648
12 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
13 emphysema 56 32 Frequent (79-30%) HP:0002097
14 ascites 56 32 Occasional (29-5%) HP:0001541
15 lymphedema 56 32 Occasional (29-5%) HP:0001004
16 hematuria 56 32 Frequent (79-30%) HP:0000790
17 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
18 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
19 atelectasis 56 32 Frequent (79-30%) HP:0100750
20 cough 56 32 Very frequent (99-80%) HP:0012735
21 abnormality of skin pigmentation 56 32 Occasional (29-5%) HP:0001000
22 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
23 abnormality of female internal genitalia 56 32 Frequent (79-30%) HP:0000008
24 abnormal urinary color 56 32 Occasional (29-5%) HP:0012086
25 retinal hamartoma 56 32 Occasional (29-5%) HP:0009594
26 pneumothorax 56 32 Frequent (79-30%) HP:0002107
27 chylopericardium 56 32 Occasional (29-5%) HP:0011852
28 shagreen patch 56 32 Occasional (29-5%) HP:0009721
29 pulmonary infiltrates 56 32 Very frequent (99-80%) HP:0002113
30 renal angiomyolipoma 56 32 Frequent (79-30%) HP:0006772
31 chylothorax 56 32 Frequent (79-30%) HP:0010310
32 pulmonary lymphangiomyomatosis 56 32 Frequent (79-30%) HP:0012798
33 ungual fibroma 56 32 Frequent (79-30%) HP:0100804
34 abnormality of the lymphatic system 56 Very frequent (99-80%)
35 renal neoplasm 56 Occasional (29-5%)
36 restrictive lung disease 56 Very frequent (99-80%)
37 restrictive ventilatory defect 32 HP:0002091

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

26
id 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:

44 (show all 15)
id 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 PGR PMEL RPS6KB1 SRF TSC1 TSC2
3 cellular MP:0005384 10.26 SRF TSC1 TSC2 CTSK DES ESR1
4 behavior/neurological MP:0005386 10.25 TSC2 VEGFD DES ESR1 MMP14 MTOR
5 growth/size/body region MP:0005378 10.22 SRF TSC1 TSC2 VEGFD CTSK ESR1
6 immune system MP:0005387 10.18 CTSK ESR1 MMP1 MMP14 MMP2 MTOR
7 mortality/aging MP:0010768 10.18 ESR1 MMP14 MMP2 MTOR MYH10 PGR
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 muscle MP:0005369 10.02 SRF TSC1 DES ESR1 MMP14 MMP2
12 neoplasm MP:0002006 9.86 ESR1 MMP1 MMP2 PGR RPS6KB1 TSC1
13 normal MP:0002873 9.81 ESR1 MMP14 MMP2 MTOR MYH10 PGR
14 respiratory system MP:0005388 9.5 CTSK ESR1 MMP14 MMP2 MTOR SRF
15 skeleton MP:0005390 9.28 CTSK ESR1 MMP14 MMP2 MTOR MYH10

Drugs & Therapeutics for Lymphangioleiomyomatosis

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

(show top 50) (show all 59)
id 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 Phase 2 38916-34-6, 51110-01-1 53481605
16
Menthol Approved Phase 2 2216-51-5 16666
17
Nintedanib Approved Phase 2 656247-17-5 56843413
18
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20 Aromatase Inhibitors Phase 2
21 Estrogen Antagonists Phase 2
22 Estrogens Phase 2
23 Hormone Antagonists Phase 2
24 Hormones Phase 2
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
26 Steroid Synthesis Inhibitors Phase 2
27 Antineoplastic Agents, Hormonal Phase 2
28 Gastrointestinal Agents Phase 2
29
saracatinib Phase 2,Phase 1
30 Antirheumatic Agents Phase 2,Phase 1
31 Adrenergic Agents Phase 2
32 Adrenergic Agonists Phase 2
33 Adrenergic beta-2 Receptor Agonists Phase 2
34 Adrenergic beta-Agonists Phase 2
35 Albuterol Phase 2
36 Anti-Asthmatic Agents Phase 2
37 Autonomic Agents Phase 2
38 Bronchodilator Agents Phase 2
39 Neurotransmitter Agents Phase 2
40 Peripheral Nervous System Agents Phase 2
41 Respiratory System Agents Phase 2
42 Tocolytic Agents Phase 2
43 Liver Extracts Phase 2
44 Anticholesteremic Agents Phase 1, Phase 2
45 Antimetabolites Phase 1, Phase 2
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
47 Hypolipidemic Agents Phase 1, Phase 2
48 Lipid Regulating Agents Phase 1, Phase 2
49 Analgesics Phase 2
50 Analgesics, Non-Narcotic Phase 2

Interventional clinical trials:

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

Search NIH Clinical Center for Lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

Genetic tests related to Lymphangioleiomyomatosis:

id Genetic test Affiliating Genes
1 Lymphangiomyomatosis 29

Anatomical Context for Lymphangioleiomyomatosis

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

39
Lung, Kidney, Smooth Muscle, Lymph Node, Liver, Brain, Endothelial

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 623)
id Title Authors Year
1
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
2
Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288282 )
2017
3
Insulin growth factor binding protein 2 mediates the progression of lymphangioleiomyomatosis. ( 28410230 )
2017
4
Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method. ( 28427470 )
2017
5
Pelvic lymphangioleiomyomatosis treated successfully with everolimus: Two case reports with literature review. ( 28272193 )
2017
6
Long-Term Effect of Sirolimus on Serum VEGF-D Levels in Patients with Lymphangioleiomyomatosis. ( 28533049 )
2017
7
The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. ( 28096282 )
2017
8
Reply to Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288285 )
2017
9
Lymphangioleiomyomatosis: A Monogenic Model of Malignancy. ( 28099079 )
2017
10
Lymphangioleiomyomatosis (LAM). ( 28289456 )
2017
11
Computed tomography lymphangiography findings in 27 cases of lymphangioleiomyomatosis. ( 28132530 )
2017
12
Lung cancer in a patient with lymphangioleiomyomatosis. ( 27986407 )
2016
13
A Case of Successful Therapy by Intrapleural Injection of Fibrin Glue for Chylothorax after Lung Transplantation for Lymphangioleiomyomatosis. ( 27431923 )
2016
14
Isolation of individual cellular components from lung tissues of patients with lymphangioleiomyomatosis. ( 27016587 )
2016
15
Therapeutic Effect of Sirolimus for Lymphangioleiomyomatosis Remaining in the Abdominopelvic Region After Lung Transplantation: A Case Report. ( 26915883 )
2016
16
Incidence of Pneumothorax in Patients With Lymphangioleiomyomatosis Undergoing Pulmonary Function and Exercise Testing. ( 27396798 )
2016
17
Coexistence of pulmonary lymphangioleiomyomatosis and pulmonary angiomyolipoma. ( 27527652 )
2016
18
Solitary extrapulmonary lymphangioleiomyomatosis of the liver: A case report and literature review. ( 27588070 )
2016
19
Proapoptotic protein Bim attenuates estrogen-enhanced survival in lymphangioleiomyomatosis. ( 27882343 )
2016
20
Reductions in pulmonary function detected in patients with lymphangioleiomyomatosis: An analysis of the Japanese National Research Project on Intractable Diseases database. ( 27108015 )
2016
21
Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis. ( 27289491 )
2016
22
Should lymphangioleiomyomatosis patients be permitted to donate blood? ( 27103385 )
2016
23
Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 27628078 )
2016
24
Pulmonary rehabilitation in lymphangioleiomyomatosis: a controlled clinical trial. ( 26917604 )
2016
25
Lung Transplantation for Lymphangioleiomyomatosis in Japan. ( 26771878 )
2016
26
mTOR treatment in lymphangioleiomyomatosis: the role of everolimus. ( 26847859 )
2016
27
Imaging Biomarkers in Lymphangioleiomyomatosis Clinical Trials. A Wolf in Sheep's Clothing? ( 26963351 )
2016
28
Incidental pulmonary lymphangioleiomyomatosis in a patient with breast cancer. ( 27185512 )
2016
29
EPIDEMIOLOGY, PATHOGENESIS and DIAGNOSIS of LYMPHANGIOLEIOMYOMATOSIS. ( 27833825 )
2016
30
Reduced physical activity in lymphangioleiomyomatosis compared with COPD and healthy controls: disease-specific impact and clinical correlates. ( 26968971 )
2016
31
A case of lymphangioleiomyomatosis associated with endometrial cancer and severe systemic lupus erythematosus. ( 27377753 )
2016
32
Minireview: Lymphangioleiomyomatosis (LAM): The "Other" Steroid-Sensitive Cancer. ( 27409646 )
2016
33
Estrogen maintains myometrial tumors in a lymphangioleiomyomatosis model. ( 26880751 )
2016
34
Two Kinds of Cystic Lung Lesions with Pulmonary Lymphangioleiomyomatosis in a Male. ( 27349306 )
2016
35
Understanding the priorities for women diagnosed with lymphangioleiomyomatosis: a patient perspective. ( 27730199 )
2016
36
A Case of Sporadic Pulmonary Lymphangioleiomyomatosis. ( 27685825 )
2016
37
Recurrence of lymphangioleiomyomatosis: Nine years after a bilateral lung transplantation. ( 27011924 )
2016
38
Rapid oral desensitization to sirolimus in a patient with lymphangioleiomyomatosis. ( 26725158 )
2016
39
Efficacy and Safety of Long-term Sirolimus Therapy for Asian Patients with Lymphangioleiomyomatosis. ( 27513278 )
2016
40
Study of breast cancer incidence in patients of lymphangioleiomyomatosis. ( 26951504 )
2016
41
A Total Pleural Covering for Lymphangioleiomyomatosis Prevents Pneumothorax Recurrence. ( 27658250 )
2016
42
Sirolimus Therapy for Patients With Lymphangioleiomyomatosis Leads to Loss of Chylous Ascites and Circulating LAM Cells. ( 27502989 )
2016
43
Lymphangioleiomyomatosis. ( 27514586 )
2016
44
Role of Prolactin Receptors in Lymphangioleiomyomatosis. ( 26765535 )
2016
45
A Novel Quantitative Computed Tomographic Analysis Suggests How Sirolimus Stabilizes Progressive Air Trapping in Lymphangioleiomyomatosis. ( 26799509 )
2016
46
Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. ( 26938102 )
2016
47
NK cell activating receptor ligand expression in lymphangioleiomyomatosis is associated with lung function decline. ( 27734028 )
2016
48
Pulmonary lymphangioleiomyomatosis in a 46-year-old female: A case report and review of the literature. ( 27284412 )
2016
49
Bronchial involvement in advanced stage lymphangioleiomyomatosis: histopathologic and molecular analyses. ( 26997436 )
2016
50
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis. ( 27171001 )
2016

Variations for Lymphangioleiomyomatosis

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

66
id Symbol AA change Variation ID SNP ID
1 TSC2 p.Arg611Gln VAR_005650 rs28934872

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

6
id 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 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
3 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
4 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
5 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
6 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
7 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
8 TSC2 NM_000548.4(TSC2): c.3442C> T (p.Gln1148Ter) single nucleotide variant Pathogenic rs45477491 GRCh37 Chromosome 16, 2130210: 2130210

Expression for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for Lymphangioleiomyomatosis

Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 38)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 DES ELN ESR1 MTOR MYH10 SRF
2
Show member pathways
12.96 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
3
Show member pathways
12.77 ESR1 MMP2 MTOR PGR RPS6KB1 TSC1
4
Show member pathways
12.67 CTSK ELN MMP1 MMP14 MMP2
5
Show member pathways
12.64 ESR1 MMP14 MMP2 MTOR RPS6KB1 TSC2
6 12.56 MMP1 MMP2 MTOR VEGFC VEGFD
7
Show member pathways
12.43 MTOR RPS6KB1 TSC1 TSC2
8
Show member pathways
12.37 MTOR RPS6KB1 TSC1 TSC2
9
Show member pathways
12.37 MTOR RPS6KB1 SRF TSC1 TSC2
10
Show member pathways
12.34 MTOR RPS6KB1 TSC1 TSC2
11
Show member pathways
12.33 MTOR RPS6KB1 TSC1 TSC2
12
Show member pathways
12.32 MTOR RPS6KB1 TSC1 TSC2
13 12.27 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
14
Show member pathways
12.24 MTOR RPS6KB1 TSC1 TSC2
15 12.22 ESR1 MMP2 MTOR RPS6KB1
16 12.17 MTOR RPS6KB1 TSC1 TSC2
17
Show member pathways
12.09 MTOR RPS6KB1 TSC1 TSC2
18
Show member pathways
12.06 MTOR RPS6KB1 TSC1 TSC2
19
Show member pathways
12.02 MTOR RPS6KB1 TSC1 TSC2
20
Show member pathways
11.99 MMP2 MTOR RPS6KB1 TSC2
21 11.92 MTOR RPS6KB1 TSC1 TSC2
22 11.91 ESR1 MTOR TSC2
23 11.83 ESR1 MTOR RPS6KB1
24 11.83 MMP2 VEGFC VEGFD
25 11.8 MTOR RPS6KB1 TSC1 TSC2
26 11.75 MTOR TSC1 TSC2
27 11.74 ESR1 MMP1 MTOR TSC1 TSC2
28
Show member pathways
11.7 CTSK MMP1 MMP14 MMP2
29 11.62 ESR1 MTOR RPS6KB1
30 11.57 MMP1 MMP14 MMP2
31 11.48 MTOR TSC1 TSC2
32 11.41 MTOR RPS6KB1 TSC1 TSC2
33 11.04 MTOR RPS6KB1 TSC2
34 10.93 MTOR TSC1
35 10.88 ESR1 MTOR TSC1 TSC2
36
Show member pathways
10.87 MTOR RPS6KB1
37
Show member pathways
10.87 VEGFC VEGFD
38 10.46 MTOR RPS6KB1 TSC1 TSC2

GO Terms for Lymphangioleiomyomatosis

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

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

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

(show all 19)
id 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 TOR signaling GO:0031929 9.58 MTOR RPS6KB1
5 stress fiber assembly GO:0043149 9.58 ELN SRF
6 induction of positive chemotaxis GO:0050930 9.57 VEGFC VEGFD
7 negative regulation of macroautophagy GO:0016242 9.56 MTOR TSC1
8 cardiac myofibril assembly GO:0055003 9.55 MYH10 SRF
9 anoikis GO:0043276 9.54 MTOR TSC2
10 positive chemotaxis GO:0050918 9.54 TSC2 VEGFC VEGFD
11 negative regulation of cell size GO:0045792 9.52 MTOR TSC1
12 positive regulation of myotube differentiation GO:0010831 9.51 MMP14 MTOR
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:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 CTSK DES ELN ESR1 MMP14 MMP2
2 serine-type endopeptidase activity GO:0004252 9.46 CTSK MMP1 MMP14 MMP2
3 metalloendopeptidase activity GO:0004222 9.43 MMP1 MMP14 MMP2
4 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFC VEGFD

Sources for Lymphangioleiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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