MCID: CHR546
MIFTS: 47

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 58 77 74
Chronic Mountain Sickness, Susceptibility to 58
Monge's Disease 77
Monge Disease 58

Classifications:



External Ids:

OMIM 58 616182
UMLS 74 C0274294

Summaries for Chronic Mountain Sickness

OMIM : 58 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 pulmonary edema and acute mountain sickness. 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 heart, bone and kidney, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Wikipedia : 77 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 51)
# Related Disease Score Top Affiliating Genes
1 pulmonary edema 30.1 EDN1 NOS3 NPPB
2 acute mountain sickness 30.0 EDN1 NOS3 VEGFA
3 pulmonary hypertension 10.3
4 renal artery disease 10.3 EPO NOS3
5 dystrophinopathies 10.3 CASP8 CASP9
6 cholestasis, benign recurrent intrahepatic, 2 10.3 CASP8 CASP9
7 hypoxia 10.3
8 coronary artery vasospasm 10.2 EDN1 NOS3
9 kashin-beck disease 10.2 BCL2 VEGFA
10 central sleep apnea 10.2 NOS3 NPPB
11 brachydactyly, type e2 10.2 EDN1 NOS3
12 hemifacial spasm 10.2 NOS3 VEGFA
13 patellar tendinitis 10.2 NOS3 VEGFA
14 aortic coarctation 10.2 EDN1 NOS3
15 poems syndrome 10.2 EPO VEGFA
16 chronic myocardial ischemia 10.2 NOS3 VEGFA
17 toxic myocarditis 10.2 NOS3 NPPB
18 renal hypertension 10.2 EDN1 EPO NPPB
19 soft tissue sarcoma 10.1 BCL2 VEGFA
20 gastric lymphoma 10.1 BCL2 VEGFA
21 angiodysplasia 10.1 SST VEGFA
22 heart disease 10.1
23 polycythemia 10.1
24 congestive heart failure 10.1 EDN1 EPO NPPB
25 angina pectoris 10.1 EDN1 NOS3 NPPB
26 urinary system disease 10.1 EDN1 EPO VEGFA
27 sleep apnea 10.1 EDN1 NOS3 NPPB
28 hepatic vascular disease 10.1 EDN1 NOS3 SST
29 ischemic heart disease 10.1 NOS3 NPPB
30 acute chest syndrome 10.1 EDN1 NOS3
31 coronary artery anomaly 10.1 EDN1 NOS3 NPPB
32 hepatopulmonary syndrome 10.0 EDN1 NOS3 VEGFA
33 limb ischemia 10.0 EDN1 NOS3 VEGFA
34 carcinoid syndrome 10.0 SST VEGFA
35 autosomal dominant polycystic kidney disease 10.0 EDN1 NOS3 VEGFA
36 diabetic macular edema 10.0 NOS3 SST VEGFA
37 idiopathic edema 10.0 EDN1 NPPB
38 microvascular complications of diabetes 1 10.0 EDN1 SST VEGFA
39 restless legs syndrome 10.0
40 depression 10.0
41 chronic kidney failure 9.9 EDN1 EPO NOS3 NPPB
42 myeloma, multiple 9.9 CASP8 CASP9 EPO VEGFA
43 adamantinoma of long bones 9.9 BCL2 CASP8 CASP9 VEGFA
44 kidney disease 9.9 EDN1 EPO NOS3 NPPB
45 cervical cancer 9.9 BCL2 CASP8 CASP9 VEGFA
46 diastolic heart failure 9.9 NOS3 NPPB
47 tetralogy of fallot 9.8 EDN1 NPPB VEGFA
48 arteries, anomalies of 9.8 EDN1 NOS3 NPPB VEGFA
49 portal hypertension 9.8 EDN1 NOS3 SST VEGFA
50 diabetes mellitus 9.6 EDN1 EPO NOS3 SST VEGFA

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:

47
# 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,Phase 1,Phase 2 59-66-5 1986
2 Natriuretic Agents Phase 4,Phase 1,Phase 2
3 diuretics Phase 4,Phase 1,Phase 2
4 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
5 Anticonvulsants Phase 4,Phase 1,Phase 2
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 Free Radical Scavengers Phase 1, Phase 2
9 Antidotes Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Antioxidants Phase 1, Phase 2,Not Applicable
12 Anti-Infective Agents Phase 1, Phase 2
13 Protective Agents Phase 1, Phase 2,Not Applicable
14 N-monoacetylcystine Phase 1, Phase 2
15 Antiviral Agents Phase 1, Phase 2
16 Expectorants Phase 1, Phase 2
17
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
18
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
19
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
20
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 54670067 5785
21 Tocotrienol Investigational Not Applicable 6829-55-6
22 Nutrients Not Applicable
23 Micronutrients Not Applicable
24 Trace Elements Not Applicable
25 Hematinics Not Applicable
26 Ferric Oxide, Saccharated Not Applicable
27 Vitamins Not Applicable
28 Tocopherols Not Applicable
29 Tocotrienols Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of High Altitude Polycythemia by Acetazolamide Completed NCT00424970 Phase 4 acetazolamide
2 Study of Cobalt's Role in Excessive Erythrocytosis Among High Altitude Dwellers in Cerro de Pasco, Peru Completed NCT01187108 Phase 1, Phase 2 N-acetylcysteine;Acetazolamide;Placebo pills
3 Study of the Effects of Iron Levels on the Lungs at High Altitude Completed NCT00952302 Not Applicable Iron sucrose;Normal saline;Iron sucrose;Normal saline
4 Sleep Related Breathing Disturbances and High Altitude Pulmonary Hypertension in Kyrgyz Highlanders Completed NCT01621061
5 A Study of the Effect of High Altitudes on Physiological and Metabolic Markers in Adults Living at Qinghai-Tibet Plateau for Work Purpose Recruiting NCT03446898
6 Chronic Mountain Sickness, Systemic Vascular Function Active, not recruiting NCT01182792 Not Applicable

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:

42
Heart, Bone, Kidney, Lung, Endothelial, Bone Marrow, Spleen

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show top 50) (show all 112)
# Title Authors Year
1
Exaggerated systemic oxidative-inflammatory-nitrosative stress in chronic mountain sickness is associated with cognitive decline and depression. ( 30397919 )
2019
2
Downregulation of intrinsic apoptosis pathway in erythroblasts contributes to excessive erythrocytosis of chronic mountain sickness. ( 30683541 )
2019
3
Pulmonary artery pressure at rest and during exercise in Chronic Mountain Sickness: a meta-analysis. ( 31023845 )
2019
4
Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness. ( 29357502 )
2018
5
Intracellular pH Regulation in iPSCs-derived Astrocytes from Subjects with Chronic Mountain Sickness. ( 29438800 )
2018
6
Cerebral Edema in Chronic Mountain Sickness: a New Finding. ( 28233815 )
2017
7
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). ( 28720395 )
2017
8
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. ( 28770234 )
2017
9
PI3K-Akt Signal Transduction Molecules Maybe Involved in Downregulation of Erythroblasts Apoptosis and Perifosine Increased Its Apoptosis in Chronic Mountain Sickness. ( 29176544 )
2017
10
Sleep-Disordered Breathing and Vascular Function in Patients With Chronic Mountain Sickness and Healthy High-Altitude Dwellers. ( 26540612 )
2016
11
SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders. ( 26952840 )
2016
12
Plasma soluble erythropoietin receptor is decreased during sleep in Andean highlanders with Chronic Mountain Sickness. ( 27125843 )
2016
13
Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment. ( 27218284 )
2016
14
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. ( 27231170 )
2016
15
Novel Insights into Cardiovascular Regulation in Patients with Chronic Mountain Sickness. ( 27343090 )
2016
16
Erythrocyte Sedimentation Rate in Chronic Mountain Sickness. ( 27468118 )
2016
17
Higher androgen bioactivity is associated with excessive erythrocytosis and chronic mountain sickness in Andean Highlanders: a review. ( 25277225 )
2015
18
Sleep disturbances in long-term immigrants with chronic mountain sickness: a comparison with healthy immigrants at high altitude. ( 25462013 )
2015
19
Left ventricular adaptation to high altitude: speckle tracking echocardiography in lowlanders, healthy highlanders and highlanders with chronic mountain sickness. ( 25665685 )
2015
20
Noninvasive Assessment of Excessive Erythrocytosis as a Screening Method for Chronic Mountain Sickness at High Altitude. ( 25973777 )
2015
21
Is restless legs syndrome associated with chronic mountain sickness? ( 26026624 )
2015
22
New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness. ( 26272318 )
2015
23
Investigation of the Hepato-Protective Effects of Imdur in a Rat Model of Chronic Mountain Sickness. ( 26554240 )
2015
24
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. ( 26625252 )
2015
25
Vascular endothelial growth factor-A is associated with chronic mountain sickness in the Andean population. ( 24971768 )
2014
26
Chronic mountain sickness in Chinese Han males who migrated to the Qinghai-Tibetan plateau: application and evaluation of diagnostic criteria for chronic mountain sickness. ( 25007716 )
2014
27
Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness. ( 25225945 )
2014
28
Decreased plasma soluble erythropoietin receptor in high-altitude excessive erythrocytosis and Chronic Mountain Sickness. ( 25324511 )
2014
29
The genetic basis of chronic mountain sickness. ( 25362634 )
2014
30
The treatment of Uygur medicine Dracocephalum moldavica L on chronic mountain sickness rat model. ( 25422549 )
2014
31
Potential beneficial effects of oral administration of isoflavones in patients with chronic mountain sickness. ( 24348805 )
2014
32
Effects and mechanisms of acetyl-L-cysteine in rats with chronic mountain sickness with H1-NMR metabolomics methods. ( 24816079 )
2014
33
Prevalence of Chronic Mountain Sickness in high altitude districts of Himachal Pradesh. ( 24872667 )
2013
34
Sleep-disordered breathing and oxidative stress in preclinical chronic mountain sickness (excessive erythrocytosis). ( 23380170 )
2013
35
Chronic mountain sickness score was related with health status score but not with hemoglobin levels at high altitudes. ( 23770310 )
2013
36
Pulmonary hypertension and chronic mountain sickness. ( 23795731 )
2013
37
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. ( 23954164 )
2013
38
Epidemiological study of chronic mountain sickness in natives of Spiti Valley in the Greater Himalayas. ( 24067183 )
2013
39
RV contractility and exercise-induced pulmonary hypertension in chronic mountain sickness: a stress echocardiographic and tissue Doppler imaging study. ( 24269266 )
2013
40
Systemic vascular dysfunction in patients with chronic mountain sickness. ( 21700688 )
2012
41
Exercise induces rapid interstitial lung water accumulation in patients with chronic mountain sickness. ( 21885723 )
2012
42
Exercise pathophysiology in patients with chronic mountain sickness exercise in chronic mountain sickness. ( 22302297 )
2012
43
Ecological study of community-level factors associated with chronic mountain sickness in the young male chinese immigrant population in Tibet. ( 22343324 )
2012
44
Burden of disease resulting from chronic mountain sickness among young Chinese male immigrants in Tibet. ( 22672510 )
2012
45
Normal exercise capacity in chronic mountain sickness: how high can the hematocrit go without consequence? ( 23032448 )
2012
46
B-type natriuretic peptide, vascular endothelial growth factor, endothelin-1, and nitric oxide synthase in chronic mountain sickness. ( 21217075 )
2011
47
Serum testosterone levels and score of chronic mountain sickness in Peruvian men natives at 4340 m. ( 21486396 )
2011
48
Poor sleep quality predicts decreased cognitive function independently of chronic mountain sickness score in young soldiers with polycythemia stationed in Tibet. ( 21962067 )
2011
49
[Studies on apoptosis and caspase-8 and caspase-9 expressions of bone marrow cells in chronic mountain sickness]. ( 22339913 )
2011
50
Exaggerated pulmonary hypertension during mild exercise in chronic mountain sickness. ( 19783668 )
2010

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 CASP8 CASP9 EDN1 EPO NOS3
2
Show member pathways
12.75 BCL2 CASP8 CASP9 EPO NOS3 VEGFA
3
Show member pathways
12.5 CASP8 CASP9 EDN1 NPPB VEGFA
4
Show member pathways
12.47 BCL2 CASP8 CASP9 VEGFA
5 12.46 BCL2 CASP8 CASP9 EGLN3 EPO VEGFA
6
Show member pathways
12.3 BCL2 CASP8 CASP9 NOS3
7 12.1 BCL2 CASP8 CASP9
8
Show member pathways
12.1 BCL2 CASP8 CASP9
9 12.08 BCL2 CASP8 CASP9
10 11.99 BCL2 CASP9 PDK1
11 11.98 BCL2 CASP8 CASP9 VEGFA
12 11.96 BCL2 CASP8 CASP9
13
Show member pathways
11.9 BCL2 CASP8 CASP9
14
Show member pathways
11.89 BCL2 CASP8 CASP9
15
Show member pathways
11.85 BCL2 CASP8 CASP9
16 11.81 BCL2 EDN1 NOS3 VEGFA
17
Show member pathways
11.77 BCL2 EPO PDK1
18 11.74 BCL2 CASP9 NOS3
19
Show member pathways
11.69 BCL2 CASP8 CASP9
20
Show member pathways
11.68 CASP8 CASP9 NOS3
21 11.62 BCL2 EDN1 NOS3 VEGFA
22 11.61 BCL2 CASP8 CASP9
23 11.54 CASP8 CASP9 NOS3
24 11.48 CASP9 PDK1 VEGFA
25 11.36 BCL2 CASP8 CASP9
26
Show member pathways
11.29 BCL2 CASP8 CASP9
27 11.27 EDN1 EGLN3 EPO VEGFA
28 11.23 BCL2 CASP8 CASP9
29 11.22 EDN1 EPO VEGFA
30 11.17 BCL2 EDN1 EGLN3 EPO NOS3 PDK1
31
Show member pathways
11.15 EDN1 VEGFA
32 11.14 NOS3 PDK1
33 11.11 EGLN3 EPO VEGFA
34 11.03 NOS3 VEGFA
35 11 BCL2 CASP9
36 10.99 EDN1 EPO NOS3 VEGFA

GO Terms for Chronic Mountain Sickness

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.95 BCL2 CASP8 CASP9 EGLN3 EPO
2 cell surface receptor signaling pathway GO:0007166 9.83 CASP8 EDN1 NPPB SST
3 cellular response to hypoxia GO:0071456 9.77 BCL2 EDN1 VEGFA
4 regulation of signaling receptor activity GO:0010469 9.77 EDN1 EPO NPPB SST VEGFA
5 kidney development GO:0001822 9.76 BCL2 CASP9 VEGFA
6 regulation of blood pressure GO:0008217 9.67 EDN1 NOS3 NPPB
7 response to hypoxia GO:0001666 9.62 EDN1 EGLN3 EPO VEGFA
8 branching involved in blood vessel morphogenesis GO:0001569 9.61 EDN1 VEGFA
9 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.61 BCL2 CASP8
10 macrophage differentiation GO:0030225 9.6 CASP8 VEGFA
11 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0008631 9.58 BCL2 PDK1
12 positive regulation of renal sodium excretion GO:0035815 9.57 EDN1 NPPB
13 positive regulation of urine volume GO:0035810 9.56 EDN1 NPPB
14 response to dexamethasone GO:0071548 9.54 EDN1 EPO
15 body fluid secretion GO:0007589 9.51 EDN1 NPPB
16 negative regulation of myeloid cell apoptotic process GO:0033033 9.48 BCL2 EPO
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.46 EDN1 NOS3
18 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.46 CASP8 CASP9 EGLN3 SENP1
19 response to cobalt ion GO:0032025 9.43 CASP8 CASP9
20 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.43 EGLN3 EPO VEGFA
21 negative regulation of calcium ion transport into cytosol GO:0010523 9.4 BCL2 EPO
22 regulation of blood vessel size GO:0050880 9.13 EDN1 NOS3 NPPB
23 response to lipopolysaccharide GO:0032496 9.02 CASP8 CASP9 EDN1 EPO NOS3

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 CASP8 CASP9 SENP1
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.16 CASP8 CASP9
3 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.96 CASP8 CASP9
4 hormone activity GO:0005179 8.92 EDN1 EPO NPPB SST

Sources for Chronic Mountain Sickness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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