MCID: CHR546
MIFTS: 42

Chronic Mountain Sickness

Categories: Blood diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Chronic Mountain Sickness

MalaCards integrated aliases for Chronic Mountain Sickness:

Name: Chronic Mountain Sickness 56 74 17 71
Chronic Mountain Sickness, Susceptibility to 56
Monge's Disease 74
Monge Disease 56

Classifications:



External Ids:

OMIM 56 616182
UMLS 71 C0274294

Summaries for Chronic Mountain Sickness

OMIM : 56 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 pulmonary hypertension, primary, 1. An important gene associated with Chronic Mountain Sickness is CMTS (Chronic Mountain Sickness, Susceptibility To), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Relaxin signaling pathway. The drugs Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related phenotypes are cardiovascular system and embryo

Wikipedia : 74 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 94)
# Related Disease Score Top Affiliating Genes
1 acute mountain sickness 32.5 VEGFA NOS3 EDN1
2 pulmonary hypertension, primary, 1 30.3 NPPB EDN1
3 pulmonary hypertension 30.2 VEGFA NPPB NOS3 EDN1
4 hypoxia 29.6 VEGFA PDK1 EGLN3
5 pulmonary edema 29.5 NPPB NOS3 EPO EDN1
6 congestive heart failure 29.0 VEGFA NPPB NOS3 EPO EDN1
7 polycythemia 10.7
8 cyanosis, transient neonatal 10.4
9 dystrophinopathies 10.3 CASP9 CASP8
10 nephrogenic systemic fibrosis 10.3 EPO EDN1
11 tracheal calcification 10.2 NPPB EPO
12 renal artery disease 10.2 NOS3 EPO
13 chronic thromboembolic pulmonary hypertension 10.2 NPPB EDN1
14 erythrocytosis, familial, 2 10.2 EPO EGLN3
15 hypertensive encephalopathy 10.2 VEGFA EPO
16 soft tissue sarcoma 10.2 VEGFA BCL2
17 idiopathic edema 10.2 NPPB EDN1
18 hypokalemia 10.2
19 testicular torsion 10.1 NOS3 BCL2
20 posterior uveal melanoma 10.1 VEGFA BCL2
21 pulmonary valve insufficiency 10.1 NPPB EDN1
22 hemifacial spasm 10.1 VEGFA NOS3
23 migraine with or without aura 1 10.1
24 pulmonary edema of mountaineers 10.1
25 hydrops, lactic acidosis, and sideroblastic anemia 10.1
26 sleep disorder 10.1
27 pulmonary venoocclusive disease 10.1 NPPB EDN1
28 sickle cell anemia 10.0 NOS3 EPO EDN1
29 coronary artery vasospasm 10.0 NOS3 EDN1
30 central sleep apnea 10.0 NPPB NOS3
31 optic atrophy 1 10.0
32 3-methylglutaconic aciduria, type iii 10.0
33 thymoma, familial 10.0
34 restless legs syndrome 10.0
35 migraine with aura 10.0
36 heart disease 10.0
37 chagas disease 10.0
38 patent foramen ovale 10.0
39 sensory peripheral neuropathy 10.0
40 thymoma 10.0
41 lung disease 10.0
42 splenomegaly 10.0
43 encephalopathy 10.0
44 paresthesia 10.0
45 neonatal hypoxic and ischemic brain injury 10.0
46 chronic congestive splenomegaly 10.0 SST EPO
47 angina pectoris 9.9 NPPB NOS3 EDN1
48 renovascular hypertension 9.9 NPPB NOS3 EDN1
49 systolic heart failure 9.9 NPPB NOS3 EDN1
50 exudative vitreoretinopathy 1 9.9 VEGFA NOS3 EPO

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BCL2 CASP8 CASP9 EDN1 EGLN3 EPO
2 embryo MP:0005380 9.97 BCL2 CASP8 CASP9 EDN1 EGLN3 EPO
3 endocrine/exocrine gland MP:0005379 9.97 BCL2 CASP8 CASP9 EDN1 EGLN3 NOS3
4 immune system MP:0005387 9.91 BCL2 CASP8 CASP9 EGLN3 EPO NOS3
5 liver/biliary system MP:0005370 9.63 CASP8 EGLN3 EPO NOS3 SENP1 VEGFA
6 muscle MP:0005369 9.5 BCL2 CASP8 EDN1 EGLN3 EPO NOS3
7 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 31)
# 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 Anticonvulsants Phase 4
4 Carbonic Anhydrase Inhibitors Phase 4
5 diuretics 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 Anti-Infective Agents Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 N-monoacetylcystine Phase 1, Phase 2
11 Antiviral Agents Phase 1, Phase 2
12 Free Radical Scavengers Phase 1, Phase 2
13 Antidotes Phase 1, Phase 2
14 Expectorants Phase 1, Phase 2
15
Digoxin Approved Phase 1 20830-75-5 30322 2724385
16 Protective Agents Phase 1
17 Anti-Arrhythmia Agents Phase 1
18
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
19
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
20
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
21
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
22 Tocotrienol Investigational 6829-55-6
23 Hematinics
24 Ferric Oxide, Saccharated
25 Antioxidants
26 Nutrients
27 Trace Elements
28 Micronutrients
29 Vitamins
30 Tocopherols
31 Tocotrienols

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 Phase 1 Study of Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
4 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
5 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
6 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:

40
Heart, Lung, Bone, Kidney, Brain, Bone Marrow, Testes

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show top 50) (show all 256)
# Title Authors PMID Year
1
Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease. 61 56
27821551 2016
2
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. 61 56
23954164 2013
3
Individual chronic mountain sickness symptom is an early warning sign of cognitive impairment. 61
31770535 2020
4
Increased hypoxic proliferative response and gene expression in erythroid progenitor cells of Andean highlanders with chronic mountain sickness. 61
31617751 2020
5
Modification of the CO-rebreathing method to determine haemoglobin mass and blood volume in patients suffering from chronic mountain sickness. 61
31562838 2019
6
DTI Study on Brain Structure and Cognitive Function in Patients with Chronic Mountain Sickness. 61
31852992 2019
7
The impact of hypoxaemia on vascular function in lowlanders and high altitude indigenous populations. 61
31677355 2019
8
Association of Age with the Expression of Hypoxia-Inducible Factors HIF-1α, HIF-2α, HIF-3α and VEGF in Lung and Heart of Tibetan Sheep. 61
31514457 2019
9
[The expression of VHL/HIF signaling pathway in the erythroid progenitor cells with chronic mountain sickness]. 61
31505717 2019
10
Pulmonary arterial pressure at rest and during exercise in chronic mountain sickness: a meta-analysis. 61
31023845 2019
11
Downregulation of intrinsic apoptosis pathway in erythroblasts contributes to excessive erythrocytosis of chronic mountain sickness. 61
30683541 2019
12
Exaggerated systemic oxidative-inflammatory-nitrosative stress in chronic mountain sickness is associated with cognitive decline and depression. 61
30397919 2019
13
The Genetic Architecture of Chronic Mountain Sickness in Peru. 61
31417607 2019
14
Global REACH: Assessment of Brady-Arrhythmias in Andeans and Lowlanders During Apnea at 4330 m. 61
32038287 2019
15
Transcriptional profiling in the livers of rats after hypobaric hypoxia exposure. 61
30993032 2019
16
Excessive Erythrocytosis and Cardiovascular Risk in Andean Highlanders. 61
29782186 2018
17
Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness. 61
29357502 2018
18
The Effect of Hypoxia on Cardiovascular Disease: Friend or Foe? 61
29939783 2018
19
[Prevalence and risk factors of chronic mountain sickness in Pamirs plateau]. 61
30788941 2018
20
Intracellular pH Regulation in iPSCs-derived Astrocytes from Subjects with Chronic Mountain Sickness. 61
29438800 2018
21
[The expressions of VEGF and VEGFR signaling pathway in the bone marrow mononuclear cells with chronic mountain sickness]. 61
29690721 2018
22
Down-regulation of Inwardly Rectifying K+ Currents in Astrocytes Derived from Patients with Monge's Disease. 61
29355592 2018
23
Therapeutic Efficacy of Methazolamide Against Intermittent Hypoxia-Induced Excessive Erythrocytosis in Rats. 61
29077517 2018
24
[Study on apoptosis, cytochrome C and mitochondrial membrane potential in CD71(+) nucleated erythrocytes in patients with chronic mountain sickness]. 61
29495220 2018
25
Divergent Mitochondrial Antioxidant Activities and Lung Alveolar Architecture in the Lungs of Rats and Mice at High Altitude. 61
29670534 2018
26
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude. 61
29029226 2017
27
High-altitude adaptation in humans: from genomics to integrative physiology. 61
28951950 2017
28
Association Between Plasma N-Acylethanolamides and High Hemoglobin Concentration in Southern Peruvian Highlanders. 61
28665150 2017
29
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). 61
28720395 2017
30
PI3K-Akt Signal Transduction Molecules Maybe Involved in Downregulation of Erythroblasts Apoptosis and Perifosine Increased Its Apoptosis in Chronic Mountain Sickness. 61
29176544 2017
31
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans. 61
29100088 2017
32
Measuring high-altitude adaptation. 61
28860167 2017
33
Reduced Cardiac Calcineurin Expression Mimics Long-Term Hypoxia-Induced Heart Defects in Drosophila. 61
28986453 2017
34
[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]. 61
29070145 2017
35
Associations of high altitude polycythemia with polymorphisms in EPAS1, ITGA6 and ERBB4 in Chinese Han and Tibetan populations. 61
29156832 2017
36
Exercise Testing, Supplemental Oxygen, and Hypoxia. 61
28590162 2017
37
[Hemoglobin changes (Hb) in miners exposed to high altitude and associated factors]. 61
28474702 2017
38
Cerebral Edema in Chronic Mountain Sickness: a New Finding. 61
28233815 2017
39
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. 61
28770234 2017
40
Obesity as a Conditioning Factor for High-Altitude Diseases. 61
28810235 2017
41
Effects of Acute, Profound Hypoxia on Healthy Humans: Implications for Safety of Tests Evaluating Pulse Oximetry or Tissue Oximetry Performance. 61
27529318 2017
42
Evidence for and Against Genetic Predispositions to Acute and Chronic Altitude Illnesses. 61
27500591 2016
43
Hypercapnic ventilatory response is decreased in a mouse model of excessive erythrocytosis. 61
27605561 2016
44
Cerebral vasoconstriction reactions and plasma levels of ETBR, ET-1, and eNOS in patients with chronic high altitude disease. 61
27485004 2016
45
Erythrocyte Sedimentation Rate in Chronic Mountain Sickness. 61
27468118 2016
46
Dark Adaptation at High Altitude: An Unexpected Pupillary Response to Chronic Hypoxia in Andean Highlanders. 61
27454014 2016
47
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. 61
27548190 2016
48
Plasma soluble erythropoietin receptor is decreased during sleep in Andean highlanders with Chronic Mountain Sickness. 61
27125843 2016
49
Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment. 61
27218284 2016
50
SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders. 61
26952840 2016

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 VEGFA NOS3 EPO CASP9 CASP8 BCL2
2
Show member pathways
12.5 VEGFA SST NOS3 EDN1 BCL2
3
Show member pathways
12.47 VEGFA PDK1 EGLN3 BCL2
4
Show member pathways
12.3 NOS3 CASP9 CASP8 BCL2
5 12.22 VEGFA EPO EGLN3 EDN1 CASP9 CASP8
6
Show member pathways
12.07 CASP9 CASP8 BCL2
7 11.97 CASP9 CASP8 BCL2
8 11.97 VEGFA CASP9 CASP8 BCL2
9
Show member pathways
11.9 CASP9 CASP8 BCL2
10
Show member pathways
11.89 CASP9 CASP8 BCL2
11
Show member pathways
11.85 CASP9 CASP8 BCL2
12 11.81 VEGFA NOS3 EDN1 BCL2
13
Show member pathways
11.77 PDK1 EPO BCL2
14 11.74 NOS3 CASP9 BCL2
15
Show member pathways
11.69 NOS3 CASP9 CASP8
16
Show member pathways
11.68 CASP9 CASP8 BCL2
17 11.62 VEGFA NOS3 EDN1 BCL2
18 11.61 CASP9 CASP8 BCL2
19 11.54 NOS3 CASP9 CASP8
20 11.48 VEGFA PDK1 CASP9
21 11.37 VEGFA EPO EGLN3 EDN1
22 11.36 CASP9 CASP8 BCL2
23
Show member pathways
11.29 CASP9 CASP8 BCL2
24 11.27 CASP9 CASP8 BCL2
25 11.2 VEGFA EPO EDN1
26 11.2 VEGFA PDK1 NOS3 EPO EGLN3 EDN1
27 11.19 VEGFA NOS3 EPO EDN1
28 11.11 VEGFA EPO EGLN3
29 11.03 VEGFA NOS3
30 11 CASP9 BCL2

GO Terms for Chronic Mountain Sickness

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.92 EPO EGLN3 CASP9 CASP8 BCL2
2 cell surface receptor signaling pathway GO:0007166 9.76 SST NPPB EDN1 CASP8
3 cellular response to hypoxia GO:0071456 9.75 VEGFA EDN1 BCL2
4 kidney development GO:0001822 9.74 VEGFA CASP9 BCL2
5 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.65 VEGFA EPO EGLN3
6 regulation of blood pressure GO:0008217 9.61 NPPB NOS3 EDN1
7 regulation of blood vessel diameter GO:0097746 9.59 NPPB NOS3
8 macrophage differentiation GO:0030225 9.58 VEGFA CASP8
9 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0008631 9.56 PDK1 BCL2
10 positive regulation of renal sodium excretion GO:0035815 9.55 NPPB EDN1
11 positive regulation of urine volume GO:0035810 9.54 NPPB EDN1
12 response to dexamethasone GO:0071548 9.51 EPO EDN1
13 body fluid secretion GO:0007589 9.49 NPPB EDN1
14 response to hypoxia GO:0001666 9.46 VEGFA EPO EGLN3 EDN1
15 negative regulation of myeloid cell apoptotic process GO:0033033 9.4 EPO BCL2
16 response to cobalt ion GO:0032025 9.37 CASP9 CASP8
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.32 NOS3 EDN1
18 negative regulation of calcium ion transport into cytosol GO:0010523 9.26 EPO BCL2
19 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 SENP1 EGLN3 CASP9 CASP8
20 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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