MCID: CHR546
MIFTS: 43

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 57 73 17 70
Chronic Mountain Sickness, Susceptibility to 57
Monge's Disease 73
Monge Disease 57

Classifications:



External Ids:

OMIM® 57 616182
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Chronic Mountain Sickness, also known as chronic mountain sickness, susceptibility to, is related to acute mountain sickness and polycythemia. An important gene associated with Chronic Mountain Sickness is CMTS (Chronic Mountain Sickness, Susceptibility To), and among its related pathways/superpathways are Circadian entrainment and PI3K-Akt signaling pathway. The drugs Acetylcysteine and Cobalt have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related phenotypes are cardiovascular system and embryo

Wikipedia : 73 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 114)
# Related Disease Score Top Affiliating Genes
1 acute mountain sickness 31.9 VEGFA NOS3 EDN1
2 polycythemia 30.7 VEGFA EPO EPAS1 EGLN3 EDN1
3 pulmonary hypertension 30.5 VEGFA NPPB NOS3 EDN1
4 pulmonary edema 29.8 NPPB NOS3 EPO EDN1
5 hypoxia 29.6 VEGFA PDK1 EPAS1 EGLN3
6 patent foramen ovale 29.5 SST NPPB EDN1
7 congestive heart failure 29.4 VEGFA NPPB NOS3 EPO EDN1
8 cyanosis, transient neonatal 10.4
9 anemia of prematurity 10.3 EPO ANP32D
10 pulmonary edema of mountaineers 10.3
11 plethora of newborn 10.3 EPO EPAS1
12 autosomal dominant secondary polycythemia 10.3 EPO EPAS1
13 acquired color blindness 10.3 EPO EDN1
14 migraine with or without aura 1 10.3
15 acquired polycythemia 10.3 EPO EPAS1
16 dystrophinopathies 10.2 CASP9 CASP8
17 tracheal calcification 10.2 NPPB EPO
18 nephrogenic systemic fibrosis 10.2 EPO EDN1
19 esophagus leiomyoma 10.2 EPAS1 EGLN3
20 renal artery disease 10.2 NOS3 EPO
21 chronic thromboembolic pulmonary hypertension 10.2 NPPB EDN1
22 pulmonary hypertension, primary, 1 10.2
23 sleep disorder 10.2
24 primary polycythemia 10.2 EPO EPAS1 EGLN3
25 erythrocytosis, familial, 2 10.2 EPO EPAS1 EGLN3
26 soft tissue sarcoma 10.2 VEGFA BCL2
27 idiopathic edema 10.1 NPPB EDN1
28 pulmonary valve insufficiency 10.1 NPPB EDN1
29 testicular torsion 10.1 NOS3 BCL2
30 hemifacial spasm 10.1 VEGFA NOS3
31 posterior uveal melanoma 10.1 VEGFA BCL2
32 buerger disease 10.1 VEGFA EDN1
33 iritis 10.1 VEGFA EPO
34 plantar fasciitis 10.1 VEGFA NOS3
35 retinal hemangioblastoma 10.1 VEGFA EPAS1
36 familial isolated hypoparathyroidism 10.1 VEGFA EPO EGLN3
37 central retinal artery occlusion 10.1 VEGFA EDN1
38 orthostatic intolerance 10.1 NOS3 EPO EDN1
39 sickle cell disease 10.1 NOS3 EPO EDN1
40 hypertensive encephalopathy 10.0 VEGFA EPO EDN1
41 background diabetic retinopathy 10.0 VEGFA EDN1
42 clubfoot 10.0 CASP9 CASP8 BCL2
43 optic atrophy 1 10.0
44 3-methylglutaconic aciduria, type iii 10.0
45 thymoma, familial 10.0
46 restless legs syndrome 10.0
47 migraine with aura 10.0
48 chagas disease 10.0
49 sensory peripheral neuropathy 10.0
50 thymoma 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 (Updated 20-May-2021)

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 EPAS1
2 embryo MP:0005380 10.06 BCL2 CASP8 CASP9 EDN1 EGLN3 EPAS1
3 endocrine/exocrine gland MP:0005379 10.02 BCL2 CASP8 CASP9 EDN1 EGLN3 NOS3
4 immune system MP:0005387 10.02 BCL2 CASP8 CASP9 EGLN3 EPAS1 EPO
5 mortality/aging MP:0010768 9.9 BCL2 CASP8 CASP9 EDN1 EGLN3 EPAS1
6 liver/biliary system MP:0005370 9.8 CASP8 EGLN3 EPAS1 EPO NOS3 SENP1
7 muscle MP:0005369 9.56 BCL2 CASP8 EDN1 EGLN3 EPAS1 EPO
8 nervous system MP:0003631 9.32 BCL2 CASP8 CASP9 EDN1 EGLN3 EPAS1

Drugs & Therapeutics for Chronic Mountain Sickness

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2
Cobalt Approved, Experimental Phase 1, Phase 2 7440-48-4 104729
3 Respiratory System Agents Phase 1, Phase 2
4 Antidotes Phase 1, Phase 2
5 Antioxidants Phase 1, Phase 2
6 Protective Agents Phase 1, Phase 2
7 Expectorants Phase 1, Phase 2
8 Anti-Infective Agents Phase 1, Phase 2
9 Antiviral Agents Phase 1, Phase 2
10 N-monoacetylcystine Phase 1, Phase 2
11
Acetazolamide Approved, Vet_approved 59-66-5 1986
12
Atorvastatin Approved 134523-00-5 60823
13 Anticonvulsants
14 diuretics
15 Carbonic Anhydrase Inhibitors
16 Anticholesteremic Agents
17 Antimetabolites
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors
19 Hypolipidemic Agents
20 Lipid Regulating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Acetazolamide and Statins for the Treatment of Chronic Mountain Sickness in Highlanders: A Randomized Controlled Trial Recruiting NCT04251364 Acetazolamide;Atorvastatin;Placebo oral tablet

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, Kidney, Lung, Bone Marrow, Brain, Endothelial, Bone

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show top 50) (show all 276)
# Title Authors PMID Year
1
Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease. 57 61
27821551 2016
2
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. 61 57
23954164 2013
3
[Chronic exposure to altitude. Clinical characteristics and diagnosis]. 61
33765369 2021
4
Pulmonary Hypertension in Acute and Chronic High Altitude Maladaptation Disorders. 61
33578749 2021
5
VHL gene methylation contributes to excessive erythrocytosis in chronic mountain sickness rat model by upregulating the HIF-2α/EPO pathway. 61
33309718 2021
6
[Adaption to chronic hypoxaemia by populations living at high altitude]. 61
33541755 2021
7
Novel insights into plasma biomarker candidates in patients with chronic mountain sickness based on proteomics. 61
33393624 2021
8
Protective role of estrogen against excessive erythrocytosis in Monge's disease. 61
33473144 2021
9
Might a high hemoglobin mass be involved in non-cardiogenic pulmonary edema? The case of the chronic maladaptation to high-altitude in the Andes. 61
33268002 2021
10
HYPOXIA AND REPRODUCTIVE HEALTH: Reproductive challenges at high altitude: fertility, pregnancy and neonatal well-being. 61
33112770 2021
11
Global REACH 2018: Andean highlanders, chronic mountain sickness and the integrative regulation of resting blood pressure. 61
32271969 2021
12
Safety and Efficacy of Therapeutic Erythrocytapheresis Treatment in Chronic Mountain Sickness Patients in Shigatse, Tibet, China. 61
33353927 2020
13
Office and Ambulatory Arterial Hypertension in Highlanders: HIGHCARE-ANDES Highlanders Study. 61
33175629 2020
14
Reevaluation of excessive erythrocytosis in diagnosing chronic mountain sickness in men from the world's highest city. 61
32614941 2020
15
Blood viscosity and its determinants in the highest city in the world. 61
32445208 2020
16
EPAS1 regulates proliferation of erythroblasts in chronic mountain sickness. 61
32470757 2020
17
Macitentan Attenuates Chronic Mountain Sickness in Rats by Regulating Arginine and Purine Metabolism. 61
32640793 2020
18
Long-term chronic intermittent hypoxia: a particular form of chronic high-altitude pulmonary hypertension. 61
33110494 2020
19
Acute, subacute and chronic mountain sickness. 61
32197780 2020
20
Individual chronic mountain sickness symptom is an early warning sign of cognitive impairment. 61
31770535 2020
21
Neuroprotective Role of Akt in Hypoxia Adaptation in Andeans. 61
33519361 2020
22
Relationships Between Chemoreflex Responses, Sleep Quality, and Hematocrit in Andean Men and Women. 61
32435207 2020
23
Excessive Erythrocytosis and Chronic Mountain Sickness in Dwellers of the Highest City in the World. 61
32760289 2020
24
Increased hypoxic proliferative response and gene expression in erythroid progenitor cells of Andean highlanders with chronic mountain sickness. 61
31617751 2020
25
The impact of hypoxaemia on vascular function in lowlanders and high altitude indigenous populations. 61
31677355 2019
26
Modification of the CO-rebreathing method to determine haemoglobin mass and blood volume in patients suffering from chronic mountain sickness. 61
31562838 2019
27
DTI Study on Brain Structure and Cognitive Function in Patients with Chronic Mountain Sickness. 61
31852992 2019
28
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
29
[The expression of VHL/HIF signaling pathway in the erythroid progenitor cells with chronic mountain sickness]. 61
31505717 2019
30
Pulmonary arterial pressure at rest and during exercise in chronic mountain sickness: a meta-analysis. 61
31023845 2019
31
Downregulation of intrinsic apoptosis pathway in erythroblasts contributes to excessive erythrocytosis of chronic mountain sickness. 61
30683541 2019
32
The Genetic Architecture of Chronic Mountain Sickness in Peru. 61
31417607 2019
33
Transcriptional profiling in the livers of rats after hypobaric hypoxia exposure. 61
30993032 2019
34
Global REACH: Assessment of Brady-Arrhythmias in Andeans and Lowlanders During Apnea at 4330 m. 61
32038287 2019
35
Exaggerated systemic oxidative-inflammatory-nitrosative stress in chronic mountain sickness is associated with cognitive decline and depression. 61
30397919 2019
36
Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness. 61
29357502 2018
37
Excessive Erythrocytosis and Cardiovascular Risk in Andean Highlanders. 61
29782186 2018
38
The Effect of Hypoxia on Cardiovascular Disease: Friend or Foe? 61
29939783 2018
39
Intracellular pH Regulation in iPSCs-derived Astrocytes from Subjects with Chronic Mountain Sickness. 61
29438800 2018
40
[The expressions of VEGF and VEGFR signaling pathway in the bone marrow mononuclear cells with chronic mountain sickness]. 61
29690721 2018
41
[Prevalence and risk factors of chronic mountain sickness in Pamirs plateau]. 61
30788941 2018
42
Therapeutic Efficacy of Methazolamide Against Intermittent Hypoxia-Induced Excessive Erythrocytosis in Rats. 61
29077517 2018
43
Down-regulation of Inwardly Rectifying K+ Currents in Astrocytes Derived from Patients with Monge's Disease. 61
29355592 2018
44
[Study on apoptosis, cytochrome C and mitochondrial membrane potential in CD71(+) nucleated erythrocytes in patients with chronic mountain sickness]. 61
29495220 2018
45
Divergent Mitochondrial Antioxidant Activities and Lung Alveolar Architecture in the Lungs of Rats and Mice at High Altitude. 61
29670534 2018
46
Association Between Plasma N-Acylethanolamides and High Hemoglobin Concentration in Southern Peruvian Highlanders. 61
28665150 2017
47
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). 61
28720395 2017
48
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude. 61
29029226 2017
49
High-altitude adaptation in humans: from genomics to integrative physiology. 61
28951950 2017
50
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans. 61
29100088 2017

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 VEGFA SST NOS3 EDN1 BCL2
2
Show member pathways
12.77 VEGFA NOS3 EPO CASP9 CASP8 BCL2
3
Show member pathways
12.46 NOS3 EPAS1 CASP9 BCL2
4
Show member pathways
12.31 NOS3 CASP9 CASP8 BCL2
5 12.28 VEGFA EPO EPAS1 EGLN3 EDN1 CASP9
6
Show member pathways
12.18 VEGFA NOS3 CASP9 CASP8
7
Show member pathways
12.11 PDK1 NOS3 CASP9 BCL2
8
Show member pathways
12.09 CASP9 CASP8 BCL2
9 11.99 CASP9 CASP8 BCL2
10 11.98 VEGFA CASP9 CASP8 BCL2
11
Show member pathways
11.92 CASP9 CASP8 BCL2
12
Show member pathways
11.91 CASP9 CASP8 BCL2
13
Show member pathways
11.87 CASP9 CASP8 BCL2
14 11.85 VEGFA NOS3 EDN1 BCL2
15
Show member pathways
11.78 PDK1 EPO BCL2
16 11.76 NOS3 CASP9 BCL2
17
Show member pathways
11.74 VEGFA NOS3 EPAS1
18
Show member pathways
11.69 CASP9 CASP8 BCL2
19
Show member pathways
11.69 NOS3 CASP9 CASP8
20 11.67 VEGFA NOS3 EDN1 BCL2
21 11.62 CASP9 CASP8 BCL2
22 11.57 VEGFA EPAS1 EGLN3
23 11.54 NOS3 CASP9 CASP8
24 11.46 VEGFA PDK1 CASP9
25 11.44 VEGFA EPO EGLN3 EDN1
26 11.35 CASP9 CASP8 BCL2
27
Show member pathways
11.3 CASP9 CASP8 BCL2
28 11.29 VEGFA NOS3 EPO EDN1
29 11.22 VEGFA EPO EDN1
30 11.2 VEGFA PDK1 NOS3 EPO EGLN3 EDN1
31
Show member pathways
11.17 SENP1 EPAS1 EGLN3
32 11.05 VEGFA NOS3
33 11.02 CASP9 BCL2
34 10.99 VEGFA EPO EPAS1 EGLN3
35 10.87 VEGFA EPAS1

GO Terms for Chronic Mountain Sickness

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.97 EPO EGLN3 CASP9 CASP8 BCL2
2 cell surface receptor signaling pathway GO:0007166 9.84 SST NPPB EDN1 CASP8
3 kidney development GO:0001822 9.76 VEGFA CASP9 BCL2
4 regulation of blood pressure GO:0008217 9.65 NPPB NOS3 EDN1
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.62 SENP1 EGLN3 CASP9 CASP8
6 regulation of blood vessel diameter GO:0097746 9.6 NPPB NOS3
7 macrophage differentiation GO:0030225 9.59 VEGFA CASP8
8 positive regulation of renal sodium excretion GO:0035815 9.57 NPPB EDN1
9 positive regulation of urine volume GO:0035810 9.56 NPPB EDN1
10 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.56 VEGFA EPO EPAS1 EGLN3
11 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0008631 9.55 PDK1 BCL2
12 response to hypoxia GO:0001666 9.55 VEGFA EPO EPAS1 EGLN3 EDN1
13 surfactant homeostasis GO:0043129 9.52 VEGFA EPAS1
14 response to dexamethasone GO:0071548 9.51 EPO EDN1
15 body fluid secretion GO:0007589 9.49 NPPB EDN1
16 response to cobalt ion GO:0032025 9.46 CASP9 CASP8
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.43 NOS3 EDN1
18 negative regulation of calcium ion transport into cytosol GO:0010523 9.4 EPO BCL2
19 negative regulation of myeloid cell apoptotic process GO:0033033 9.37 EPO BCL2
20 response to lipopolysaccharide GO:0032496 9.35 NOS3 EPO EDN1 CASP9 CASP8
21 cellular response to hypoxia GO:0071456 9.02 VEGFA EPAS1 EGLN3 EDN1 BCL2

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 9.5 SENP1 CASP9 CASP8
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP9 CASP8
3 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.16 CASP9 CASP8
4 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.96 CASP9 CASP8
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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