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 hypertension and pulmonary edema. 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 Development Angiotensin activation of ERK. 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 : 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 53)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 30.4 EDN1 NOS3 NPPB
2 pulmonary edema 30.1 EDN1 NOS3 NPPB
3 acute mountain sickness 30.0 EDN1 NOS3 VEGFA
4 heart disease 29.8 EDN1 NOS3 NPPB VEGFA
5 dystrophinopathies 10.3 CASP8 CASP9
6 cholestasis, benign recurrent intrahepatic, 2 10.3 CASP8 CASP9
7 renal artery disease 10.3 EPO NOS3
8 hypoxia 10.3
9 coronary artery vasospasm 10.3 EDN1 NOS3
10 central sleep apnea 10.2 NOS3 NPPB
11 brachydactyly, type e2 10.2 EDN1 NOS3
12 aortic coarctation 10.2 EDN1 NOS3
13 poems syndrome 10.2 EPO VEGFA
14 toxic myocarditis 10.2 NOS3 NPPB
15 hemifacial spasm 10.2 NOS3 VEGFA
16 patellar tendinitis 10.2 NOS3 VEGFA
17 idiopathic edema 10.2 EDN1 NPPB
18 ischemic heart disease 10.2 NOS3 NPPB
19 acute chest syndrome 10.2 EDN1 NOS3
20 chronic myocardial ischemia 10.2 NOS3 VEGFA
21 renal hypertension 10.2 EDN1 EPO NPPB
22 angiodysplasia 10.2 SST VEGFA
23 diastolic heart failure 10.1 NOS3 NPPB
24 congestive heart failure 10.1 EDN1 EPO NPPB
25 persistent fetal circulation syndrome 10.1 EDN1 NOS3
26 systolic heart failure 10.1 EDN1 NPPB
27 carcinoid syndrome 10.1 SST VEGFA
28 polycythemia 10.1
29 angina pectoris 10.1 EDN1 NOS3 NPPB
30 sleep apnea 10.1 EDN1 NOS3 NPPB
31 urinary system disease 10.1 EDN1 EPO VEGFA
32 coronary artery anomaly 10.1 EDN1 NOS3 NPPB
33 hepatic vascular disease 10.1 EDN1 NOS3 SST
34 hepatopulmonary syndrome 10.0 EDN1 NOS3 VEGFA
35 limb ischemia 10.0 EDN1 NOS3 VEGFA
36 adamantinoma of long bones 10.0 CASP8 CASP9 VEGFA
37 autosomal dominant polycystic kidney disease 10.0 EDN1 NOS3 VEGFA
38 microvascular complications of diabetes 1 10.0 EDN1 SST VEGFA
39 sexual disorder 10.0 EDN1 NOS3
40 diabetic macular edema 10.0 NOS3 SST VEGFA
41 tetralogy of fallot 10.0 EDN1 NPPB VEGFA
42 restless legs syndrome 10.0
43 depression 10.0
44 chronic kidney failure 9.9 EDN1 EPO NOS3 NPPB
45 myeloma, multiple 9.9 CASP8 CASP9 EPO VEGFA
46 nephrogenic systemic fibrosis 9.9 EDN1 EPO
47 kidney disease 9.9 EDN1 EPO NOS3 NPPB
48 arteries, anomalies of 9.8 EDN1 NOS3 NPPB VEGFA
49 portal hypertension 9.8 EDN1 NOS3 SST VEGFA
50 ischemia 9.7 CASP9 EDN1 EPO NOS3 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 10.03 CASP8 CASP9 EDN1 EGLN3 EPO NOS3
2 endocrine/exocrine gland MP:0005379 9.97 CASP8 CASP9 EDN1 EGLN3 NOS3 PDK1
3 embryo MP:0005380 9.95 CASP8 CASP9 EDN1 EGLN3 EPO SENP1
4 immune system MP:0005387 9.92 CASP8 CASP9 EGLN3 EPO NOS3 SENP1
5 mortality/aging MP:0010768 9.81 CASP8 CASP9 EDN1 EGLN3 EPO NOS3
6 liver/biliary system MP:0005370 9.73 CASP8 EGLN3 EPO NOS3 SENP1 VEGFA
7 muscle MP:0005369 9.43 CASP8 EDN1 EGLN3 EPO NOS3 VEGFA
8 nervous system MP:0003631 9.23 CASP8 CASP9 EDN1 EGLN3 NOS3 SENP1

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 Anticonvulsants Phase 4,Phase 1,Phase 2
5 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
6
Cobalt Approved, Experimental Phase 1, Phase 2 7440-48-4 104729
7
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
8 Free Radical Scavengers Phase 1, Phase 2
9 Antioxidants Phase 1, Phase 2,Not Applicable
10 Antidotes Phase 1, Phase 2
11 Anti-Infective Agents Phase 1, Phase 2
12 Protective Agents Phase 1, Phase 2,Not Applicable
13 Respiratory System Agents Phase 1, Phase 2
14 Expectorants Phase 1, Phase 2
15 Antiviral Agents Phase 1, Phase 2
16 N-monoacetylcystine Phase 1, Phase 2
17
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 23925 27284
18
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
19
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
20
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
21 Tocotrienol Investigational Not Applicable 6829-55-6
22 Hematinics Not Applicable
23 Trace Elements Not Applicable
24 Ferric Oxide, Saccharated Not Applicable
25 Nutrients Not Applicable
26 Micronutrients Not Applicable
27 Vitamins Not Applicable
28 Tocotrienols Not Applicable
29 Tocopherols 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
Lung, Heart, Bone, Endothelial, Bone Marrow, Brain, Spleen

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show top 50) (show all 111)
# 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
Intracellular pH regulation in iPSCs-derived astrocytes from subjects with Chronic Mountain Sickness. ( 29438800 )
2018
4
MITOCHONDRIAL DYSFUNCTION IN IPSC-DERIVED NEURONS OF SUBJECTS WITH CHRONIC MOUNTAIN SICKNESS. ( 29357502 )
2017
5
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). ( 28720395 )
2017
6
PI3K-Akt Signal Transduction Molecules Maybe Involved in Downregulation of Erythroblasts Apoptosis and Perifosine Increased Its Apoptosis in Chronic Mountain Sickness. ( 29176544 )
2017
7
Cerebral Edema in Chronic Mountain Sickness: a New Finding. ( 28233815 )
2017
8
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. ( 28770234 )
2017
9
SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders. ( 26952840 )
2016
10
Erythrocyte Sedimentation Rate in Chronic Mountain Sickness. ( 27468118 )
2016
11
Plasma soluble erythropoietin receptor is decreased during sleep in Andean highlanders with Chronic Mountain Sickness. ( 27125843 )
2016
12
Novel Insights into Cardiovascular Regulation in Patients with Chronic Mountain Sickness. ( 27343090 )
2016
13
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
14
Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment. ( 27218284 )
2016
15
Investigation of the Hepato-Protective Effects of Imdur in a Rat Model of Chronic Mountain Sickness. ( 26554240 )
2015
16
The Local HIF-2I+/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
17
Noninvasive Assessment of Excessive Erythrocytosis as a Screening Method for Chronic Mountain Sickness at High Altitude. ( 25973777 )
2015
18
New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness. ( 26272318 )
2015
19
Sleep disturbances in long-term immigrants with chronic mountain sickness: a comparison with healthy immigrants at high altitude. ( 25462013 )
2015
20
Left ventricular adaptation to high altitude: speckle tracking echocardiography in lowlanders, healthy highlanders and highlanders with chronic mountain sickness. ( 25665685 )
2015
21
Is restless legs syndrome associated with chronic mountain sickness? ( 26026624 )
2015
22
Sleep disordered breathing and vascular function in patients with chronic mountain sickness and healthy high-altitude dwellers. ( 26540612 )
2015
23
Effects and mechanisms of acetyl-L-cysteine in rats with chronic mountain sickness with H1-NMR metabolomics methods. ( 24816079 )
2014
24
Decreased plasma soluble erythropoietin receptor in high-altitude excessive erythrocytosis and Chronic Mountain Sickness. ( 25324511 )
2014
25
Potential beneficial effects of oral administration of isoflavones in patients with chronic mountain sickness. ( 24348805 )
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
The treatment of Uygur medicine Dracocephalum moldavica L on chronic mountain sickness rat model. ( 25422549 )
2014
29
Vascular endothelial growth factor-A is associated with chronic mountain sickness in the Andean population. ( 24971768 )
2014
30
Higher androgen bioactivity is associated with excessive erythrocytosis and chronic mountain sickness in Andean Highlanders: a review. ( 25277225 )
2014
31
The genetic basis of chronic mountain sickness. ( 25362634 )
2014
32
Pulmonary hypertension and chronic mountain sickness. ( 23795731 )
2013
33
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. ( 23954164 )
2013
34
RV contractility and exercise-induced pulmonary hypertension in chronic mountain sickness: a stress echocardiographic and tissue Doppler imaging study. ( 24269266 )
2013
35
Epidemiological study of chronic mountain sickness in natives of Spiti Valley in the Greater Himalayas. ( 24067183 )
2013
36
Prevalence of Chronic Mountain Sickness in high altitude districts of Himachal Pradesh. ( 24872667 )
2013
37
Sleep-disordered breathing and oxidative stress in preclinical chronic mountain sickness (excessive erythrocytosis). ( 23380170 )
2013
38
Chronic mountain sickness score was related with health status score but not with hemoglobin levels at high altitudes. ( 23770310 )
2013
39
Systemic vascular dysfunction in patients with chronic mountain sickness. ( 21700688 )
2012
40
Exercise induces rapid interstitial lung water accumulation in patients with chronic mountain sickness. ( 21885723 )
2012
41
Exercise pathophysiology in patients with chronic mountain sickness exercise in chronic mountain sickness. ( 22302297 )
2012
42
Ecological study of community-level factors associated with chronic mountain sickness in the young male chinese immigrant population in Tibet. ( 22343324 )
2012
43
Burden of disease resulting from chronic mountain sickness among young Chinese male immigrants in Tibet. ( 22672510 )
2012
44
Normal exercise capacity in chronic mountain sickness: how high can the hematocrit go without consequence? ( 23032448 )
2012
45
Poor sleep quality predicts decreased cognitive function independently of chronic mountain sickness score in young soldiers with polycythemia stationed in Tibet. ( 21962067 )
2011
46
B-type natriuretic peptide, vascular endothelial growth factor, endothelin-1, and nitric oxide synthase in chronic mountain sickness. ( 21217075 )
2011
47
[Studies on apoptosis and caspase-8 and caspase-9 expressions of bone marrow cells in chronic mountain sickness]. ( 22339913 )
2011
48
Serum testosterone levels and score of chronic mountain sickness in Peruvian men natives at 4340 m. ( 21486396 )
2011
49
Exaggerated pulmonary hypertension during mild exercise in chronic mountain sickness. ( 19783668 )
2010
50
Chronic mountain sickness and the heart. ( 20417348 )
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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 CASP8 CASP9 EPO NOS3 VEGFA
2
Show member pathways
12.68 CASP8 CASP9 EDN1 EPO NOS3
3 12.56 CASP8 CASP9 EGLN3 EPO VEGFA
4
Show member pathways
12.35 CASP8 CASP9 EDN1 NPPB VEGFA
5 11.91 CASP8 CASP9 VEGFA
6 11.86 EDN1 NOS3 VEGFA
7 11.69 EDN1 NOS3 VEGFA
8
Show member pathways
11.57 CASP8 CASP9 NOS3
9 11.45 CASP8 CASP9 NOS3
10 11.34 CASP9 PDK1 VEGFA
11 11.27 EDN1 EGLN3 EPO VEGFA
12 11.12 EDN1 NOS3
13 11.1 EDN1 EGLN3 EPO NOS3 PDK1 VEGFA
14 11.07 EDN1 EPO VEGFA
15
Show member pathways
11.05 EDN1 VEGFA
16 11.04 NOS3 PDK1
17 10.99 EDN1 EPO NOS3 VEGFA
18 10.96 EGLN3 EPO VEGFA
19 10.94 NOS3 VEGFA

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 cell surface receptor signaling pathway GO:0007166 9.78 CASP8 EDN1 NPPB SST
2 regulation of signaling receptor activity GO:0010469 9.77 EDN1 EPO NPPB SST VEGFA
3 in utero embryonic development GO:0001701 9.75 EDN1 NOS3 VEGFA
4 regulation of blood pressure GO:0008217 9.63 EDN1 NOS3 NPPB
5 response to hypoxia GO:0001666 9.62 EDN1 EGLN3 EPO VEGFA
6 response to amino acid GO:0043200 9.6 EDN1 SST
7 response to testosterone GO:0033574 9.59 EDN1 EPO
8 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.58 CASP8 NOS3
9 response to antibiotic GO:0046677 9.57 CASP8 CASP9
10 branching involved in blood vessel morphogenesis GO:0001569 9.56 EDN1 VEGFA
11 macrophage differentiation GO:0030225 9.55 CASP8 VEGFA
12 positive regulation of renal sodium excretion GO:0035815 9.54 EDN1 NPPB
13 positive regulation of urine volume GO:0035810 9.52 EDN1 NPPB
14 response to dexamethasone GO:0071548 9.51 EDN1 EPO
15 body fluid secretion GO:0007589 9.49 EDN1 NPPB
16 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.43 EDN1 NOS3
17 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.43 EGLN3 EPO VEGFA
18 response to cobalt ion GO:0032025 9.4 CASP8 CASP9
19 regulation of blood vessel size GO:0050880 9.33 EDN1 NOS3 NPPB
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP8 CASP9 EGLN3 SENP1
21 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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