MCID: LYM007
MIFTS: 66

Lymphangioleiomyomatosis

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

Aliases & Classifications for Lymphangioleiomyomatosis

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 54 12 50 25 56 71 13 52 14 69
Lymphangiomyomatosis 12 25 29 52
Lam 50 25 56 71
Pulmonary Lymphangioleiomyomatosis 12 69
Lymphangioleiomyomatosis, Somatic 54
Lung Lymphangioleiomyomatosis 12
Lymphangio-Myomatosis 50

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


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 lymphangiomyomatosis, is related to tsc1-related lymphangioleiomyomatosis and buschke-ollendorff syndrome, and has symptoms including optic atrophy, recurrent respiratory infections and cognitive impairment. An important gene associated with Lymphangioleiomyomatosis is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. 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

UniProtKB/Swiss-Prot : 71 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.

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.

Wikipedia : 72 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 156)
id Related Disease Score Top Affiliating Genes
1 tsc1-related lymphangioleiomyomatosis 11.8
2 buschke-ollendorff syndrome 10.9 TSC1 TSC2
3 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.8
4 tuberous sclerosis-1 10.8
5 chronic salpingitis 10.8 DES ESR1
6 bartholin's gland benign neoplasm 10.8 ESR1 PGR
7 central nervous system organ benign neoplasm 10.8 ESR1 PGR
8 gallbladder leiomyoma 10.8 ESR1 PGR
9 lung adenoma 10.8 ESR1 PGR
10 glaucoma, hereditary 10.7 ESR1 PGR
11 fallopian tube benign neoplasm 10.7 ESR1 PGR
12 paranasal sinus disease 10.7 ESR1 PGR
13 clear cell adenocarcinoma 10.7 TSC1 TSC2
14 dartoic leiomyoma 10.7 ESR1 PGR
15 urinary bladder inverted papilloma 10.7 ESR1 PGR
16 spinal cancer 10.7 ESR1 PGR
17 subglottis verrucous carcinoma 10.7 ESR1 PGR
18 pineal region yolk sac tumor 10.7 DES PGR
19 deafness, autosomal dominant 8/12 10.7 ESR1 PGR
20 intestinal perforation 10.7 ESR1 PGR
21 mannose-binding lectin protein deficiency 10.7 DES PGR
22 gastric tubular adenocarcinoma 10.6 ESR1 PGR
23 berk-tabatznik syndrome 10.6 DES PGR
24 lymphocytic infiltrate of jessner 10.6 DES PGR TSC2
25 her2-receptor positive breast cancer 10.6 ESR1 PGR
26 kleptomania 10.6 MMP1 MMP2
27 sebaceous adenoma 10.6 DES PGR TSC2
28 focal cortical dysplasia, type ii, somatic 10.6 MTOR TSC1 TSC2
29 cauda equina intradural extramedullary astrocytoma 10.6 MTOR TSC1 TSC2
30 colloid adenoma 10.6 MTOR TSC1 TSC2
31 cauda equina neoplasm 10.6 MTOR TSC1 TSC2
32 tinea profunda 10.6 ELN MMP2
33 superficial basal cell carcinoma 10.6 ESR1 PGR
34 thoracic benign neoplasm 10.6 ESR1 PGR TSC2
35 gastrointestinal system benign neoplasm 10.6 ESR1 PGR TSC2
36 fallopian tube papillary adenocarcinoma 10.6 ESR1 PGR TSC2
37 gallbladder papillomatosis 10.6 MTOR TSC1 TSC2
38 mixed epithelial stromal tumour 10.6 MTOR TSC1 TSC2
39 sarcomatoid squamous cell skin carcinoma 10.6 ESR1 PGR
40 rectal neoplasm 10.6 DES ESR1 PGR
41 cystitis 10.6 MMP2 PGR TSC1
42 benign struma ovarii 10.6 ELN TSC1 TSC2
43 large cell acanthoma 10.6 DES ESR1 PGR
44 congenital mitral stenosis 10.6 VEGFC VEGFD
45 pineal region meningioma 10.5 ESR1 PGR
46 haverhill fever 10.5 ESR1 MMP2 PGR
47 hemoglobin lepore-beta-thalassemia syndrome 10.5 ELN MMP1
48 trachea squamous cell carcinoma 10.5 ESR1 MMP2 PGR
49 black piedra 10.5 DES ESR1 PGR
50 bladder colloid adenocarcinoma 10.5 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:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
3 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 hematuria 56 32 frequent (33%) Frequent (79-30%) HP:0000790
7 fatigue 56 32 occasional (7.5%) Occasional (29-5%) HP:0012378
8 dyspnea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002094
9 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
10 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
11 cough 56 32 hallmark (90%) Very frequent (99-80%) HP:0012735
12 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
13 atelectasis 56 32 frequent (33%) Frequent (79-30%) HP:0100750
14 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
15 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
16 hemoptysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002105
17 chest pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0100749
18 pulmonary infiltrates 56 32 hallmark (90%) Very frequent (99-80%) HP:0002113
19 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
20 emphysema 56 32 frequent (33%) Frequent (79-30%) HP:0002097
21 shagreen patch 56 32 occasional (7.5%) Occasional (29-5%) HP:0009721
22 renal angiomyolipoma 56 32 frequent (33%) Frequent (79-30%) HP:0006772
23 pneumothorax 56 32 frequent (33%) Frequent (79-30%) HP:0002107
24 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
25 chylothorax 56 32 frequent (33%) Frequent (79-30%) HP:0010310
26 retinal hamartoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0009594
27 macule 56 32 occasional (7.5%) Occasional (29-5%) HP:0012733
28 abnormality of skin pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001000
29 abnormality of female internal genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0000008
30 abnormal urinary color 56 32 occasional (7.5%) Occasional (29-5%) HP:0012086
31 chylopericardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0011852
32 pulmonary lymphangiomyomatosis 56 32 frequent (33%) Frequent (79-30%) HP:0012798
33 ungual fibroma 56 32 frequent (33%) Frequent (79-30%) HP:0100804
34 restrictive lung disease 56 Very frequent (99-80%)
35 restrictive ventilatory defect 32 hallmark (90%) HP:0002091
36 abnormality of the lymphatic system 56 Very frequent (99-80%)
37 renal neoplasm 56 Occasional (29-5%)

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 MTOR MYH10 PGR PMEL RPS6KB1 SRF
3 cellular MP:0005384 10.26 CTSK DES ESR1 MMP14 MTOR MYH10
4 behavior/neurological MP:0005386 10.25 TSC1 TSC2 VEGFD DES ESR1 MMP14
5 growth/size/body region MP:0005378 10.22 RPS6KB1 SRF TSC1 TSC2 VEGFD CTSK
6 immune system MP:0005387 10.18 CTSK ESR1 MMP1 MMP14 MMP2 MTOR
7 mortality/aging MP:0010768 10.18 PGR RPS6KB1 SRF TSC1 TSC2 VEGFC
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 MMP14 MTOR PGR RPS6KB1 SRF TSC1
11 muscle MP:0005369 10.02 PGR RPS6KB1 SRF TSC1 DES ESR1
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 ESR1 MMP14 MMP2 MTOR MYH10 PGR

Drugs & Therapeutics for Lymphangioleiomyomatosis

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

(show top 50) (show all 64)
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
Saracatinib Investigational Phase 2,Phase 1 379231-04-6
21
Resveratrol Experimental, Investigational Phase 2 501-36-0 445154
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 Adrenergic Agents Phase 2
33 Adrenergic Agonists Phase 2
34 Adrenergic beta-2 Receptor Agonists Phase 2
35 Adrenergic beta-Agonists Phase 2
36 Albuterol Phase 2
37 Anti-Asthmatic Agents Phase 2
38 Autonomic Agents Phase 2
39 Bronchodilator Agents Phase 2
40 Neurotransmitter Agents Phase 2
41 Peripheral Nervous System Agents Phase 2
42 Respiratory System Agents Phase 2
43 Tocolytic Agents Phase 2
44 Liver Extracts Phase 2
45 Anticholesteremic Agents Phase 1, Phase 2
46 Antimetabolites Phase 1, Phase 2
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
48 Hypolipidemic Agents Phase 1, Phase 2
49 Lipid Regulating Agents Phase 1, Phase 2
50 Analgesics Phase 2

Interventional clinical trials:

(show all 34)

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

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 639)
id Title Authors Year
1
CA-125 in Disease Progression and Treatment of Lymphangioleiomyomatosis. ( 28576630 )
2017
2
Metabolic Impact of Rapamycin (Sirolimus) and B-Estradiol Using Mouse Embryonic Fibroblasts as a Model for Lymphangioleiomyomatosis. ( 28577037 )
2017
3
Experience of Lung Transplantation in Patients with Lymphangioleiomyomatosis at a Brazilian Reference Centre. ( 28823029 )
2017
4
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? ( 28754097 )
2017
5
Insulin growth factor binding protein 2 mediates the progression of lymphangioleiomyomatosis. ( 28410230 )
2017
6
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. ( 28613922 )
2017
7
A Phase II Clinical Trial of an Aromatase Inhibitor for Postmenopausal Women with Lymphangioleiomyomatosis. ( 28570161 )
2017
8
Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. ( 28830860 )
2017
9
Active Surveillance of Nonfatty Renal Masses in Patients With Lymphangioleiomyomatosis: Use of CT Features and Patterns of Growth to Differentiate Angiomyolipoma From Renal Cancer. ( 28678574 )
2017
10
Lymphangioleiomyomatosis (LAM). ( 28289456 )
2017
11
Computed tomography lymphangiography findings in 27 cases of lymphangioleiomyomatosis. ( 28132530 )
2017
12
The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. ( 28096282 )
2017
13
Cathepsin K in Lymphangioleiomyomatosis: LAM Cell-Fibroblast Interactions Enhance Protease Activity by Extracellular Acidification. ( 28623674 )
2017
14
Angiomyomatous Hamartoma of Lymph Nodes, Revisited: Clinico-pathologic Study of 21 Cases, Emphasizing Its Distinction from Lymphangioleiomyomatosis of Lymph Nodes. ( 28899738 )
2017
15
Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method. ( 28427470 )
2017
16
Lymphangioleiomyomatosis: an explosive presentation of a rare disease. ( 28616248 )
2017
17
Renal Epithelioid Angiomyolipoma Associated with Pulmonary Lymphangioleiomyomatosis: Imaging Findings. ( 28584685 )
2017
18
Lymphangioleiomyomatosis: A Monogenic Model of Malignancy. ( 28099079 )
2017
19
Summary for Clinicians: Lymphangioleiomyomatosis Diagnosis and Management Clinical Practice Guideline. ( 28665705 )
2017
20
Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288282 )
2017
21
Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story. ( 28643793 )
2017
22
Risk factors for stomatitis in patients with lymphangioleiomyomatosis during treatment with sirolimus: A multicenter investigator-initiated prospective study. ( 28752672 )
2017
23
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
24
Reply to Official ATS/JRS Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. ( 28288285 )
2017
25
Pelvic lymphangioleiomyomatosis treated successfully with everolimus: Two case reports with literature review. ( 28272193 )
2017
26
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017
27
Long-Term Effect of Sirolimus on Serum VEGF-D Levels in Patients with Lymphangioleiomyomatosis. ( 28533049 )
2017
28
Rapid oral desensitization to sirolimus in a patient with lymphangioleiomyomatosis. ( 26725158 )
2016
29
A Novel Quantitative Computed Tomographic Analysis Suggests How Sirolimus Stabilizes Progressive Air Trapping in Lymphangioleiomyomatosis. ( 26799509 )
2016
30
A Case of Successful Therapy by Intrapleural Injection of Fibrin Glue for Chylothorax after Lung Transplantation for Lymphangioleiomyomatosis. ( 27431923 )
2016
31
A case of lymphangioleiomyomatosis associated with endometrial cancer and severe systemic lupus erythematosus. ( 27377753 )
2016
32
Incidence of Pneumothorax in Patients With Lymphangioleiomyomatosis Undergoing Pulmonary Function and Exercise Testing. ( 27396798 )
2016
33
Estrogen maintains myometrial tumors in a lymphangioleiomyomatosis model. ( 26880751 )
2016
34
Bronchial involvement in advanced stage lymphangioleiomyomatosis: histopathologic and molecular analyses. ( 26997436 )
2016
35
Lymphangioleiomyomatosis. ( 27514586 )
2016
36
Minireview: Lymphangioleiomyomatosis (LAM): The "Other" Steroid-Sensitive Cancer. ( 27409646 )
2016
37
Therapeutic Effect of Sirolimus for Lymphangioleiomyomatosis Remaining in the Abdominopelvic Region After Lung Transplantation: A Case Report. ( 26915883 )
2016
38
Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. ( 26938102 )
2016
39
Pulmonary lymphangioleiomyomatosis in a 46-year-old female: A case report and review of the literature. ( 27284412 )
2016
40
Coexistence of pulmonary lymphangioleiomyomatosis and pulmonary angiomyolipoma. ( 27527652 )
2016
41
Sirolimus Therapy for Patients With Lymphangioleiomyomatosis Leads to Loss of Chylous Ascites and Circulating LAM Cells. ( 27502989 )
2016
42
Reductions in pulmonary function detected in patients with lymphangioleiomyomatosis: An analysis of the Japanese National Research Project on Intractable Diseases database. ( 27108015 )
2016
43
Recurrence of lymphangioleiomyomatosis: Nine years after a bilateral lung transplantation. ( 27011924 )
2016
44
Isolation of individual cellular components from lung tissues of patients with lymphangioleiomyomatosis. ( 27016587 )
2016
45
Lung Transplantation for Lymphangioleiomyomatosis in Japan. ( 26771878 )
2016
46
Understanding the priorities for women diagnosed with lymphangioleiomyomatosis: a patient perspective. ( 27730199 )
2016
47
Lung cancer in a patient with lymphangioleiomyomatosis. ( 27986407 )
2016
48
Two Kinds of Cystic Lung Lesions with Pulmonary Lymphangioleiomyomatosis in a Male. ( 27349306 )
2016
49
Proapoptotic protein Bim attenuates estrogen-enhanced survival in lymphangioleiomyomatosis. ( 27882343 )
2016
50
A Total Pleural Covering for Lymphangioleiomyomatosis Prevents Pneumothorax Recurrence. ( 27658250 )
2016

Variations for Lymphangioleiomyomatosis

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

71
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
13.73 DES ELN ESR1 MTOR MYH10 SRF
2
Show member pathways
13.2 ESR1 RPS6KB1 TSC1 TSC2 VEGFC VEGFD
3
Show member pathways
12.94 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
4
Show member pathways
12.66 CTSK ELN MMP1 MMP14 MMP2
5
Show member pathways
12.65 MMP14 MMP2 MTOR RPS6KB1 TSC2
6 12.53 MMP1 MMP2 MTOR VEGFC VEGFD
7 12.52 MTOR RPS6KB1 TSC1 TSC2 VEGFC VEGFD
8
Show member pathways
12.47 ESR1 MTOR PGR RPS6KB1 TSC1 TSC2
9
Show member pathways
12.43 MTOR RPS6KB1 TSC1 TSC2
10
Show member pathways
12.36 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
Show member pathways
12.31 MTOR RPS6KB1 TSC1 TSC2
14
Show member pathways
12.31 MTOR RPS6KB1 SRF TSC1 TSC2
15
Show member pathways
12.22 MTOR RPS6KB1 TSC1 TSC2
16 12.21 ESR1 MMP2 MTOR RPS6KB1
17
Show member pathways
12.18 MTOR RPS6KB1 TSC1 TSC2
18 12.16 MTOR RPS6KB1 TSC1 TSC2
19
Show member pathways
12.06 MTOR RPS6KB1 TSC1 TSC2
20
Show member pathways
11.97 MTOR RPS6KB1 TSC1 TSC2
21
Show member pathways
11.94 MMP2 MTOR RPS6KB1 TSC2
22
Show member pathways
11.93 MTOR RPS6KB1 TSC2
23 11.91 ESR1 MTOR TSC2
24 11.87 MTOR RPS6KB1 TSC1 TSC2
25 11.83 MMP2 VEGFC VEGFD
26 11.83 ESR1 MTOR RPS6KB1
27 11.75 MTOR TSC1 TSC2
28 11.75 MTOR RPS6KB1 TSC1 TSC2
29 11.74 ESR1 MMP1 MTOR TSC1 TSC2
30
Show member pathways
11.62 CTSK MMP1 MMP14 MMP2
31 11.61 ESR1 MTOR RPS6KB1
32 11.55 MMP1 MMP14 MMP2
33 11.45 MTOR TSC1 TSC2
34 11.34 MTOR RPS6KB1 TSC1 TSC2
35 10.98 MTOR RPS6KB1 TSC2
36 10.92 MTOR TSC1
37 10.88 ESR1 MTOR TSC1 TSC2
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 extracellular matrix GO:0031012 9.13 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 18)
id 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 positive regulation of myotube differentiation GO:0010831 9.58 MMP14 MTOR
5 TOR signaling GO:0031929 9.57 MTOR RPS6KB1
6 stress fiber assembly GO:0043149 9.56 ELN SRF
7 induction of positive chemotaxis GO:0050930 9.55 VEGFC VEGFD
8 negative regulation of macroautophagy GO:0016242 9.54 MTOR TSC1
9 positive chemotaxis GO:0050918 9.54 TSC2 VEGFC VEGFD
10 anoikis GO:0043276 9.52 MTOR TSC2
11 negative regulation of cell size GO:0045792 9.51 MTOR TSC1
12 long-term memory GO:0007616 9.5 MTOR RPS6KB1 SRF
13 collagen catabolic process GO:0030574 9.46 CTSK MMP1 MMP14 MMP2
14 intramembranous ossification GO:0001957 9.43 CTSK MMP2
15 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 RPS6KB1 TSC1 TSC2
16 positive regulation of mast cell chemotaxis GO:0060754 9.4 VEGFC VEGFD
17 response to hypoxia GO:0001666 9.35 MMP14 MMP2 SRF VEGFC VEGFD
18 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
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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