MCID: CHR546
MIFTS: 43

Chronic Mountain Sickness

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Chronic Mountain Sickness

MalaCards integrated aliases for Chronic Mountain Sickness:

Name: Chronic Mountain Sickness 57 75 72
Chronic Mountain Sickness, Susceptibility to 57
Monge's Disease 75
Monge Disease 57

Classifications:



External Ids:

OMIM 57 616182
UMLS 72 C0274294

Summaries for Chronic Mountain Sickness

OMIM : 57 Chronic mountain sickness (CMS), or Monge disease, represents a state of maladaptation to high-altitude hypoxia in a member of a population acclimatized to high altitudes. CMS is characterized by severe polycythemia and an array of neurologic symptoms, including headache, fatigue, somnolence, and depression. Often, people with CMS suffer from strokes and myocardial infarctions in early adulthood because of increased blood viscosity. Studies have shown that CMS is common in Andeans, found occasionally in Tibetans, and absent from the Ethiopian population living on the East African high-altitude plateau (summary by Zhou et al., 2013). Acute mountain sickness (see pulmonary edema of mountaineers, 178400) is experienced by unacclimatized travelers exposed to high altitude. (616182)

MalaCards based summary : Chronic Mountain Sickness, also known as chronic mountain sickness, susceptibility to, is related to acute mountain sickness and congestive heart failure. An important gene associated with Chronic Mountain Sickness is CMTS (Chronic Mountain Sickness, Susceptibility To), and among its related pathways/superpathways are Development Angiotensin activation of ERK and PI3K-Akt signaling pathway. The drugs Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and bone, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Wikipedia : 75 Chronic mountain sickness (CMS) is a disease in which the proportion of blood volume that is occupied by... more...

Related Diseases for Chronic Mountain Sickness

Diseases in the Acute Mountain Sickness family:

Chronic Mountain Sickness

Diseases related to Chronic Mountain Sickness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 acute mountain sickness 32.8 VEGFA NOS3 EDN1
2 congestive heart failure 30.2 NPPB EPO EDN1
3 pulmonary edema 30.1 NPPB NOS3 EDN1
4 polycythemia 10.7
5 pulmonary hypertension 10.6
6 renal artery disease 10.5 NOS3 EPO
7 dystrophinopathies 10.5 CASP9 CASP8
8 cholestasis, benign recurrent intrahepatic, 2 10.4 CASP9 CASP8
9 coronary artery vasospasm 10.4 NOS3 EDN1
10 kashin-beck disease 10.4 VEGFA BCL2
11 central sleep apnea 10.4 NPPB NOS3
12 cyanosis, transient neonatal 10.3
13 hemifacial spasm 10.3 VEGFA NOS3
14 patellar tendinitis 10.3 VEGFA NOS3
15 brachydactyly, type e2 10.3 NOS3 EDN1
16 toxic myocarditis 10.3 NPPB NOS3
17 poems syndrome 10.3 VEGFA EPO
18 aortic coarctation 10.3 NOS3 EDN1
19 soft tissue sarcoma 10.2 VEGFA BCL2
20 renal hypertension 10.2 NPPB EPO EDN1
21 gastric lymphoma 10.2 VEGFA BCL2
22 angiodysplasia 10.2 VEGFA SST
23 hypokalemia 10.2
24 angina pectoris 10.1 NPPB NOS3 EDN1
25 urinary system disease 10.1 VEGFA EPO EDN1
26 sleep apnea 10.1 NPPB NOS3 EDN1
27 hepatic vascular disease 10.1 SST NOS3 EDN1
28 migraine with or without aura 1 10.1
29 pulmonary edema of mountaineers 10.1
30 pulmonary hypertension, primary, 1 10.1
31 hydrops, lactic acidosis, and sideroblastic anemia 10.1
32 sleep disorder 10.1
33 lung disease 10.1
34 hypoxia 10.1
35 coronary artery anomaly 10.1 NPPB NOS3 EDN1
36 idiopathic edema 10.1 NPPB EDN1
37 hepatopulmonary syndrome 10.1 VEGFA NOS3 EDN1
38 limb ischemia 10.1 VEGFA NOS3 EDN1
39 carcinoid syndrome 10.0 VEGFA SST
40 acute chest syndrome 10.0 NOS3 EDN1
41 autosomal dominant polycystic kidney disease 10.0 VEGFA NOS3 EDN1
42 diabetic macular edema 10.0 VEGFA SST NOS3
43 microvascular complications of diabetes 1 10.0 VEGFA SST EDN1
44 optic atrophy 1 10.0
45 3-methylglutaconic aciduria, type iii 10.0
46 thymoma, familial 10.0
47 immunodeficiency, common variable, 10 10.0
48 restless legs syndrome 10.0
49 migraine with aura 10.0
50 heart disease 10.0

Graphical network of the top 20 diseases related to Chronic Mountain Sickness:



Diseases related to Chronic Mountain Sickness

Symptoms & Phenotypes for Chronic Mountain Sickness

Clinical features from OMIM:

616182

MGI Mouse Phenotypes related to Chronic Mountain Sickness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 BCL2 CASP8 CASP9 EDN1 EGLN3 EPO
2 endocrine/exocrine gland MP:0005379 10.09 BCL2 CASP8 CASP9 EDN1 EGLN3 NOS3
3 embryo MP:0005380 10.06 BCL2 CASP8 CASP9 EDN1 EGLN3 EPO
4 growth/size/body region MP:0005378 10.06 BCL2 CASP8 CASP9 EDN1 EGLN3 NOS3
5 hematopoietic system MP:0005397 9.97 BCL2 CASP8 CASP9 EGLN3 EPO NOS3
6 immune system MP:0005387 9.97 BCL2 CASP8 CASP9 EGLN3 EPO NOS3
7 mortality/aging MP:0010768 9.85 BCL2 CASP8 CASP9 EDN1 EGLN3 EPO
8 liver/biliary system MP:0005370 9.73 CASP8 EGLN3 EPO NOS3 SENP1 VEGFA
9 muscle MP:0005369 9.5 BCL2 CASP8 EDN1 EGLN3 EPO NOS3
10 nervous system MP:0003631 9.28 BCL2 CASP8 CASP9 EDN1 EGLN3 NOS3

Drugs & Therapeutics for Chronic Mountain Sickness

Drugs for Chronic Mountain Sickness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2 Natriuretic Agents Phase 4
3 diuretics Phase 4
4 Anticonvulsants Phase 4
5 Carbonic Anhydrase Inhibitors Phase 4
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7
Cobalt Approved, Experimental Phase 1, Phase 2 7440-48-4 104729
8 N-monoacetylcystine Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 Free Radical Scavengers Phase 1, Phase 2
11 Antidotes Phase 1, Phase 2
12 Anti-Infective Agents Phase 1, Phase 2
13 Expectorants Phase 1, Phase 2
14 Antiviral Agents Phase 1, Phase 2
15
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
16
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
17
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
18
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
19 Tocotrienol Investigational 6829-55-6
20 Ferric Oxide, Saccharated
21 Hematinics
22 Antioxidants
23 Protective Agents
24 Nutrients
25 Micronutrients
26 Trace Elements
27 Tocopherols
28 Tocotrienols
29 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
2 Randomized Controlled Trial of N-acetylcysteine and Acetazolamide in Treatment of Chronic Mountain Sickness Completed NCT01187108 Phase 1, Phase 2 N-acetylcysteine;Acetazolamide;Placebo pills
3 Physiology Study Investigating the Effects of Supplementation and Depletion of Iron on Hypoxia-related Pulmonary Hypertension Completed NCT00952302 Iron sucrose;Normal saline;Iron sucrose;Normal saline
4 A Cohort Study of the Effect of High Altitudes on Physiological and Metabolic Markers in Adults Who Live at Qinghai-Tibet Plateau for Work Purpose Recruiting NCT03446898
5 Chronic Hypoxemia and Systemic Vascular Function Active, not recruiting NCT01182792

Search NIH Clinical Center for Chronic Mountain Sickness

Genetic Tests for Chronic Mountain Sickness

Anatomical Context for Chronic Mountain Sickness

MalaCards organs/tissues related to Chronic Mountain Sickness:

41
Lung, Heart, Bone, Bone Marrow, Testes, Endothelial, Brain

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show top 50) (show all 248)
# Title Authors PMID Year
1
Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease. 38 8
27821551 2016
2
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. 38 8
23954164 2013
3
Pulmonary arterial pressure at rest and during exercise in chronic mountain sickness: a meta-analysis. 38
31023845 2019
4
Downregulation of intrinsic apoptosis pathway in erythroblasts contributes to excessive erythrocytosis of chronic mountain sickness. 38
30683541 2019
5
Exaggerated systemic oxidative-inflammatory-nitrosative stress in chronic mountain sickness is associated with cognitive decline and depression. 38
30397919 2019
6
The Genetic Architecture of Chronic Mountain Sickness in Peru. 38
31417607 2019
7
Transcriptional profiling in the livers of rats after hypobaric hypoxia exposure. 38
30993032 2019
8
Excessive Erythrocytosis and Cardiovascular Risk in Andean Highlanders. 38
29782186 2018
9
Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness. 38
29357502 2018
10
The Effect of Hypoxia on Cardiovascular Disease: Friend or Foe? 38
29939783 2018
11
Intracellular pH Regulation in iPSCs-derived Astrocytes from Subjects with Chronic Mountain Sickness. 38
29438800 2018
12
[Prevalence and risk factors of chronic mountain sickness in Pamirs plateau]. 38
30788941 2018
13
[The expressions of VEGF and VEGFR signaling pathway in the bone marrow mononuclear cells with chronic mountain sickness]. 38
29690721 2018
14
Down-regulation of Inwardly Rectifying K+ Currents in Astrocytes Derived from Patients with Monge's Disease. 38
29355592 2018
15
Therapeutic Efficacy of Methazolamide Against Intermittent Hypoxia-Induced Excessive Erythrocytosis in Rats. 38
29077517 2018
16
[Study on apoptosis, cytochrome C and mitochondrial membrane potential in CD71(+) nucleated erythrocytes in patients with chronic mountain sickness]. 38
29495220 2018
17
Divergent Mitochondrial Antioxidant Activities and Lung Alveolar Architecture in the Lungs of Rats and Mice at High Altitude. 38
29670534 2018
18
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude. 38
29029226 2017
19
High-altitude adaptation in humans: from genomics to integrative physiology. 38
28951950 2017
20
Association Between Plasma N-Acylethanolamides and High Hemoglobin Concentration in Southern Peruvian Highlanders. 38
28665150 2017
21
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). 38
28720395 2017
22
PI3K-Akt Signal Transduction Molecules Maybe Involved in Downregulation of Erythroblasts Apoptosis and Perifosine Increased Its Apoptosis in Chronic Mountain Sickness. 38
29176544 2017
23
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans. 38
29100088 2017
24
Measuring high-altitude adaptation. 38
28860167 2017
25
Reduced Cardiac Calcineurin Expression Mimics Long-Term Hypoxia-Induced Heart Defects in Drosophila. 38
28986453 2017
26
[Effect of ERK1/2 Signaling Pathway Inhibitor PD98059 on the Expression of Ras, BRaf, MEK, ERK1/2 in Marrow Nucleated Red Blood Cells of CMS Patients]. 38
29070145 2017
27
Associations of high altitude polycythemia with polymorphisms in EPAS1, ITGA6 and ERBB4 in Chinese Han and Tibetan populations. 38
29156832 2017
28
Exercise Testing, Supplemental Oxygen, and Hypoxia. 38
28590162 2017
29
[Hemoglobin changes (Hb) in miners exposed to high altitude and associated factors]. 38
28474702 2017
30
Cerebral Edema in Chronic Mountain Sickness: a New Finding. 38
28233815 2017
31
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. 38
28770234 2017
32
Obesity as a Conditioning Factor for High-Altitude Diseases. 38
28810235 2017
33
Effects of Acute, Profound Hypoxia on Healthy Humans: Implications for Safety of Tests Evaluating Pulse Oximetry or Tissue Oximetry Performance. 38
27529318 2017
34
Evidence for and Against Genetic Predispositions to Acute and Chronic Altitude Illnesses. 38
27500591 2016
35
Hypercapnic ventilatory response is decreased in a mouse model of excessive erythrocytosis. 38
27605561 2016
36
Cerebral vasoconstriction reactions and plasma levels of ETBR, ET-1, and eNOS in patients with chronic high altitude disease. 38
27485004 2016
37
Dark Adaptation at High Altitude: An Unexpected Pupillary Response to Chronic Hypoxia in Andean Highlanders. 38
27454014 2016
38
Erythrocyte Sedimentation Rate in Chronic Mountain Sickness. 38
27468118 2016
39
Acceptability, Safety, and Efficacy of Oral Administration of Extracts of Black or Red Maca (Lepidium meyenii) in Adult Human Subjects: A Randomized, Double-Blind, Placebo-Controlled Study. 38
27548190 2016
40
Plasma soluble erythropoietin receptor is decreased during sleep in Andean highlanders with Chronic Mountain Sickness. 38
27125843 2016
41
Intermittent Oxygen Inhalation with Proper Frequency Improves Overall Health Conditions and Alleviates Symptoms in a Population at High Risk of Chronic Mountain Sickness with Severe Symptoms. 38
27231170 2016
42
Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment. 38
27218284 2016
43
SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders. 38
26952840 2016
44
Sleep-Disordered Breathing and Vascular Function in Patients With Chronic Mountain Sickness and Healthy High-Altitude Dwellers. 38
26540612 2016
45
Novel Insights into Cardiovascular Regulation in Patients with Chronic Mountain Sickness. 38
27343090 2016
46
Neuroprotective Role of Intermittent Hypobaric Hypoxia in Unpredictable Chronic Mild Stress Induced Depression in Rats. 38
26901349 2016
47
PULMONARY ARTERIAL DISEASE ASSOCIATED WITH RIGHT-SIDED CARDIAC HYPERTROPHY AND CONGESTIVE HEART FAILURE IN ZOO MAMMALS HOUSED AT 2,100 M ABOVE SEA LEVEL. 38
26667539 2015
48
New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness. 38
26272318 2015
49
The Local HIF-2α/EPO Pathway in the Bone Marrow is Associated with Excessive Erythrocytosis and the Increase in Bone Marrow Microvessel Density in Chronic Mountain Sickness. 38
26625252 2015
50
Research on rat models of hypobaric hypoxia-induced pulmonary hypertension. 38
26502863 2015

Variations for Chronic Mountain Sickness

Expression for Chronic Mountain Sickness

Search GEO for disease gene expression data for Chronic Mountain Sickness.

Pathways for Chronic Mountain Sickness

Pathways related to Chronic Mountain Sickness according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 NOS3 EPO EDN1 CASP9 CASP8
2
Show member pathways
12.75 VEGFA NOS3 EPO CASP9 CASP8 BCL2
3
Show member pathways
12.5 VEGFA NPPB EDN1 CASP9 CASP8
4
Show member pathways
12.47 VEGFA CASP9 CASP8 BCL2
5 12.46 VEGFA EPO EGLN3 CASP9 CASP8 BCL2
6
Show member pathways
12.3 NOS3 CASP9 CASP8 BCL2
7 12.11 CASP9 CASP8 BCL2
8
Show member pathways
12.1 CASP9 CASP8 BCL2
9 12.08 CASP9 CASP8 BCL2
10 12 PDK1 CASP9 BCL2
11 11.98 VEGFA CASP9 CASP8 BCL2
12 11.96 CASP9 CASP8 BCL2
13
Show member pathways
11.9 CASP9 CASP8 BCL2
14
Show member pathways
11.89 CASP9 CASP8 BCL2
15
Show member pathways
11.85 CASP9 CASP8 BCL2
16 11.81 VEGFA NOS3 EDN1 BCL2
17
Show member pathways
11.77 PDK1 EPO BCL2
18 11.74 NOS3 CASP9 BCL2
19
Show member pathways
11.69 CASP9 CASP8 BCL2
20
Show member pathways
11.68 NOS3 CASP9 CASP8
21 11.62 VEGFA NOS3 EDN1 BCL2
22 11.61 CASP9 CASP8 BCL2
23 11.54 NOS3 CASP9 CASP8
24 11.48 VEGFA PDK1 CASP9
25 11.36 CASP9 CASP8 BCL2
26
Show member pathways
11.29 CASP9 CASP8 BCL2
27 11.27 VEGFA EPO EGLN3 EDN1
28 11.26 CASP9 CASP8 BCL2
29 11.2 VEGFA EPO EDN1
30 11.2 VEGFA PDK1 NOS3 EPO EGLN3 EDN1
31 11.14 PDK1 NOS3
32
Show member pathways
11.14 VEGFA EDN1
33 11.11 VEGFA EPO EGLN3
34 11.03 VEGFA NOS3
35 11 CASP9 BCL2
36 10.99 VEGFA NOS3 EPO EDN1

GO Terms for Chronic Mountain Sickness

Biological processes related to Chronic Mountain Sickness according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 EPO EGLN3 CASP9 CASP8 BCL2
2 cell surface receptor signaling pathway GO:0007166 9.81 SST NPPB EDN1 CASP8
3 cellular response to hypoxia GO:0071456 9.76 VEGFA EDN1 BCL2
4 kidney development GO:0001822 9.75 VEGFA CASP9 BCL2
5 regulation of blood pressure GO:0008217 9.65 NPPB NOS3 EDN1
6 response to hypoxia GO:0001666 9.62 VEGFA EPO EGLN3 EDN1
7 branching involved in blood vessel morphogenesis GO:0001569 9.61 VEGFA EDN1
8 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.6 CASP8 BCL2
9 macrophage differentiation GO:0030225 9.59 VEGFA CASP8
10 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0008631 9.57 PDK1 BCL2
11 positive regulation of urine volume GO:0035810 9.56 NPPB EDN1
12 positive regulation of renal sodium excretion GO:0035815 9.55 NPPB EDN1
13 response to dexamethasone GO:0071548 9.52 EPO EDN1
14 body fluid secretion GO:0007589 9.49 NPPB EDN1
15 response to cobalt ion GO:0032025 9.46 CASP9 CASP8
16 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.46 SENP1 EGLN3 CASP9 CASP8
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.43 NOS3 EDN1
18 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.43 VEGFA EPO EGLN3
19 negative regulation of myeloid cell apoptotic process GO:0033033 9.4 EPO BCL2
20 negative regulation of calcium ion transport into cytosol GO:0010523 9.37 EPO BCL2
21 regulation of blood vessel size GO:0050880 9.13 NPPB NOS3 EDN1
22 response to lipopolysaccharide GO:0032496 9.02 NOS3 EPO EDN1 CASP9 CASP8

Molecular functions related to Chronic Mountain Sickness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cysteine-type peptidase activity GO:0008234 9.43 SENP1 CASP9 CASP8
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.16 CASP9 CASP8
3 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.96 CASP9 CASP8
4 hormone activity GO:0005179 8.92 SST NPPB EPO EDN1

Sources for Chronic Mountain Sickness

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