MCID: CHR546
MIFTS: 44

Chronic Mountain Sickness

Categories: Rare diseases

Aliases & Classifications for Chronic Mountain Sickness

MalaCards integrated aliases for Chronic Mountain Sickness:

Name: Chronic Mountain Sickness 57 76 73
Chronic Mountain Sickness, Susceptibility to 57
Monge's Disease 76
Monge Disease 57

Classifications:



External Ids:

OMIM 57 616182
UMLS 73 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 pulmonary hypertension and renal artery disease. 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 Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include lung, endothelial and bone, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Wikipedia : 76 Chronic mountain sickness (CMS or Monge\'s disease) is a disease in which the proportion of blood volume... 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 all 44)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 29.5 EDN1 NOS3 NPPB VEGFA
2 renal artery disease 10.7 EPO NOS3
3 hemifacial spasm 10.7 NOS3 VEGFA
4 chronic myocardial ischemia 10.6 NOS3 VEGFA
5 angiodysplasia 10.6 SST VEGFA
6 poems syndrome 10.6 EPO VEGFA
7 coronary artery vasospasm 10.5 EDN1 NOS3
8 angina pectoris 10.5 EDN1 NOS3
9 central sleep apnea 10.5 NOS3 NPPB
10 aortic coarctation 10.4 EDN1 NOS3
11 toxic myocarditis 10.4 NOS3 NPPB
12 acute chest syndrome 10.4 EDN1 NOS3
13 dystrophinopathies 10.4 CASP8 CASP9
14 chronic thromboembolic pulmonary hypertension 10.4 EDN1 NPPB
15 carcinoid syndrome 10.3 SST VEGFA
16 hepatic vascular disease 10.3 EDN1 NOS3 SST
17 diastolic heart failure 10.3 NOS3 NPPB
18 acute mountain sickness 10.3 EDN1 NOS3 VEGFA
19 hepatopulmonary syndrome 10.3 EDN1 NOS3 VEGFA
20 limb ischemia 10.2 EDN1 NOS3 VEGFA
21 autosomal dominant polycystic kidney disease 10.2 EDN1 NOS3 VEGFA
22 ischemic heart disease 10.1 NOS3 NPPB
23 renal hypertension 10.1 EDN1 EPO NPPB
24 pulmonary edema 10.1 EDN1 NOS3 NPPB
25 congestive heart failure 10.1 EDN1 EPO NPPB
26 diabetic macular edema 10.0 EPO NOS3 SST VEGFA
27 sexual disorder 10.0 EDN1 NOS3
28 chronic kidney failure 10.0 EDN1 EPO NPPB
29 endotheliitis 10.0
30 idiopathic edema 10.0 EDN1 NPPB
31 adamantinoma of long bones 9.9 CASP8 CASP9 VEGFA
32 ischemia 9.9 EDN1 EPO NOS3 VEGFA
33 portal hypertension 9.9 EDN1 NOS3 SST VEGFA
34 restless legs syndrome 9.8
35 cerebritis 9.8
36 sleep disorder 9.8
37 neuronitis 9.8
38 polycythemia 9.8
39 myeloma, multiple 9.8 CASP8 CASP9 EPO VEGFA
40 persistent fetal circulation syndrome 9.8 EDN1 NOS3
41 tetralogy of fallot 9.7 EDN1 NPPB VEGFA
42 sleep apnea 9.7 EDN1 NOS3 NPPB VEGFA
43 arteries, anomalies of 9.7 EDN1 NOS3 NPPB VEGFA
44 diabetes mellitus 9.5 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:

46
# 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 VEGFA CASP8 CASP9 EDN1 EGLN3 NOS3
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 28)
# 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 Anticonvulsants Phase 4,Phase 1,Phase 2
3 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
4 diuretics Phase 4,Phase 1,Phase 2
5 Natriuretic Agents Phase 4,Phase 1,Phase 2
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7 Antioxidants Phase 1, Phase 2,Not Applicable
8 Protective Agents Phase 1, Phase 2,Not Applicable
9 Antidotes Phase 1, Phase 2
10 Anti-Infective Agents Phase 1, Phase 2
11 Antiviral Agents Phase 1, Phase 2
12
Cobalt Phase 1, Phase 2 7440-48-4 104729
13 Expectorants Phase 1, Phase 2
14 N-monoacetylcystine Phase 1, Phase 2
15 Respiratory System Agents Phase 1, Phase 2
16
Iron Approved Not Applicable 7439-89-6 23925
17
Tocopherol Approved, Investigational, Nutraceutical Not Applicable 1406-66-2 14986
18
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
19
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
20 Micronutrients Not Applicable
21 Tocopherols Not Applicable
22 Tocotrienols Not Applicable
23 Trace Elements Not Applicable
24 Vitamins Not Applicable
25 Ferric Compounds Not Applicable
26 Ferric oxide, saccharated Not Applicable
27 Hematinics Not Applicable
28 Tocotrienol Investigational, Nutraceutical Not Applicable 6829-55-6

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 Chronic Mountain Sickness, Systemic Vascular Function Unknown status NCT01182792 Not Applicable
4 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
5 Sleep Related Breathing Disturbances and High Altitude Pulmonary Hypertension in Kyrgyz Highlanders Completed NCT01621061
6 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

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, Endothelial, Bone, Bone Marrow

Publications for Chronic Mountain Sickness

Articles related to Chronic Mountain Sickness:

(show all 44)
# Title Authors Year
1
Intracellular pH regulation in iPSCs-derived astrocytes from subjects with Chronic Mountain Sickness. ( 29438800 )
2018
2
MITOCHONDRIAL DYSFUNCTION IN IPSC-DERIVED NEURONS OF SUBJECTS WITH CHRONIC MOUNTAIN SICKNESS. ( 29357502 )
2017
3
Acetazolamide and N-acetylcysteine in the treatment of chronic mountain sickness (Monge's disease). ( 28720395 )
2017
4
PI3K-Akt Signal Transduction Molecules Maybe Involved in Downregulation of Erythroblasts Apoptosis and Perifosine Increased Its Apoptosis in Chronic Mountain Sickness. ( 29176544 )
2017
5
Cerebral Edema in Chronic Mountain Sickness: a New Finding. ( 28233815 )
2017
6
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. ( 28770234 )
2017
7
SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders. ( 26952840 )
2016
8
Erythrocyte Sedimentation Rate in Chronic Mountain Sickness. ( 27468118 )
2016
9
Plasma soluble erythropoietin receptor is decreased during sleep in Andean highlanders with Chronic Mountain Sickness. ( 27125843 )
2016
10
Novel Insights into Cardiovascular Regulation in Patients with Chronic Mountain Sickness. ( 27343090 )
2016
11
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
12
Chronic Mountain Sickness: Clinical Aspects, Etiology, Management, and Treatment. ( 27218284 )
2016
13
Investigation of the Hepato-Protective Effects of Imdur in a Rat Model of Chronic Mountain Sickness. ( 26554240 )
2015
14
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
15
Noninvasive Assessment of Excessive Erythrocytosis as a Screening Method for Chronic Mountain Sickness at High Altitude. ( 25973777 )
2015
16
New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness. ( 26272318 )
2015
17
Sleep disturbances in long-term immigrants with chronic mountain sickness: a comparison with healthy immigrants at high altitude. ( 25462013 )
2015
18
Left ventricular adaptation to high altitude: speckle tracking echocardiography in lowlanders, healthy highlanders and highlanders with chronic mountain sickness. ( 25665685 )
2015
19
Is restless legs syndrome associated with chronic mountain sickness? ( 26026624 )
2015
20
Sleep disordered breathing and vascular function in patients with chronic mountain sickness and healthy high-altitude dwellers. ( 26540612 )
2015
21
Effects and mechanisms of acetyl-L-cysteine in rats with chronic mountain sickness with H1-NMR metabolomics methods. ( 24816079 )
2014
22
Decreased plasma soluble erythropoietin receptor in high-altitude excessive erythrocytosis and Chronic Mountain Sickness. ( 25324511 )
2014
23
Potential beneficial effects of oral administration of isoflavones in patients with chronic mountain sickness. ( 24348805 )
2014
24
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
25
Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness. ( 25225945 )
2014
26
The treatment of Uygur medicine Dracocephalum moldavica L on chronic mountain sickness rat model. ( 25422549 )
2014
27
Vascular endothelial growth factor-A is associated with chronic mountain sickness in the Andean population. ( 24971768 )
2014
28
Higher androgen bioactivity is associated with excessive erythrocytosis and chronic mountain sickness in Andean Highlanders: a review. ( 25277225 )
2014
29
The genetic basis of chronic mountain sickness. ( 25362634 )
2014
30
Pulmonary hypertension and chronic mountain sickness. ( 23795731 )
2013
31
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. ( 23954164 )
2013
32
RV contractility and exercise-induced pulmonary hypertension in chronic mountain sickness: a stress echocardiographic and tissue Doppler imaging study. ( 24269266 )
2013
33
Epidemiological study of chronic mountain sickness in natives of Spiti Valley in the Greater Himalayas. ( 24067183 )
2013
34
Prevalence of Chronic Mountain Sickness in high altitude districts of Himachal Pradesh. ( 24872667 )
2013
35
Poor sleep quality predicts decreased cognitive function independently of chronic mountain sickness score in young soldiers with polycythemia stationed in Tibet. ( 21962067 )
2011
36
B-type natriuretic peptide, vascular endothelial growth factor, endothelin-1, and nitric oxide synthase in chronic mountain sickness. ( 21217075 )
2011
37
[Studies on apoptosis and caspase-8 and caspase-9 expressions of bone marrow cells in chronic mountain sickness]. ( 22339913 )
2011
38
High serum testosterone levels are associated with excessive erythrocytosis of chronic mountain sickness in men. ( 19318512 )
2009
39
Abnormal energy regulation in early life: childhood gene expression may predict subsequent chronic mountain sickness. ( 18954447 )
2008
40
Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. ( 15642663 )
2005
41
Acetazolamide: a treatment for chronic mountain sickness. ( 16126936 )
2005
42
Selected contribution: Peripheral chemoreflex function in high-altitude natives and patients with chronic mountain sickness. ( 12571149 )
2003
43
Ventilation, autonomic function, sleep and erythropoietin. Chronic mountain sickness of Andean natives. ( 14713121 )
2003
44
Chronic cor pulmonale due to loss of altitude acclimatization (chronic mountain sickness). ( 4253583 )
1971

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
12.72 CASP8 CASP9 EPO NOS3 VEGFA
2
Show member pathways
12.68 CASP8 CASP9 EDN1 EPO NOS3
3 12.55 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 11.68 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 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.8 CASP8 EDN1 NPPB SST
2 in utero embryonic development GO:0001701 9.75 EDN1 NOS3 VEGFA
3 regulation of signaling receptor activity GO:0010469 9.72 EDN1 EPO NPPB SST VEGFA
4 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.63 EGLN3 EPO VEGFA
5 regulation of blood pressure GO:0008217 9.61 EDN1 NOS3 NPPB
6 response to testosterone GO:0033574 9.59 EDN1 EPO
7 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.58 CASP8 NOS3
8 response to antibiotic GO:0046677 9.57 CASP8 CASP9
9 branching involved in blood vessel morphogenesis GO:0001569 9.56 EDN1 VEGFA
10 response to hypoxia GO:0001666 9.56 EDN1 EGLN3 EPO 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 9.48 EDN1 NPPB
16 response to cobalt ion GO:0032025 9.4 CASP8 CASP9
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.37 EDN1 NOS3
18 regulation of blood vessel size GO:0050880 9.33 EDN1 NOS3 NPPB
19 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP8 CASP9 EGLN3 SENP1
20 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 execution phase of apoptosis GO:0097200 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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