Childhood Myocerebrohepatopathy Spectrum (MCHS)

Categories: Liver diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Childhood Myocerebrohepatopathy Spectrum

MalaCards integrated aliases for Childhood Myocerebrohepatopathy Spectrum:

Name: Childhood Myocerebrohepatopathy Spectrum 43 6 70
Childhood Myocerebrohepatopathy Spectrum Disorders 29
Mchs 43


External Ids:

UMLS 70 C3713421

Summaries for Childhood Myocerebrohepatopathy Spectrum

MedlinePlus Genetics : 43 Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-).Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive).Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.

MalaCards based summary : Childhood Myocerebrohepatopathy Spectrum, is also known as childhood myocerebrohepatopathy spectrum disorders. An important gene associated with Childhood Myocerebrohepatopathy Spectrum is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Mechlorethamine and Petrolatum have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and skin.

Related Diseases for Childhood Myocerebrohepatopathy Spectrum

Symptoms & Phenotypes for Childhood Myocerebrohepatopathy Spectrum

Drugs & Therapeutics for Childhood Myocerebrohepatopathy Spectrum

Drugs for Childhood Myocerebrohepatopathy Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
Petrolatum Approved, Investigational Phase 2 8009-03-8
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7 Alkylating Agents Phase 2
8 Nitrogen Mustard Compounds Phase 2
9 Antirheumatic Agents Phase 2
10 Tubulin Modulators Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Immunosuppressive Agents Phase 2
Liposomal doxorubicin Phase 2 31703
14 Antineoplastic Agents, Immunological Phase 2
15 Immunologic Factors Phase 2
16 Antimitotic Agents Phase 2
17 Anti-Bacterial Agents Phase 2
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
Allopurinol Approved Phase 1 315-30-0 2094
Nitroprusside Approved, Investigational Phase 1 15078-28-1 11963622
Nitric Oxide Approved Phase 1 10102-43-9 145068
Nitroarginine Experimental, Investigational Phase 1 2149-70-4
23 Acetovanillone Phase 1
24 Vasodilator Agents Phase 1
25 Pharmaceutical Solutions Phase 1
26 Antihypertensive Agents Phase 1
27 Antimetabolites Phase 1
28 Protective Agents Phase 1
29 Antioxidants Phase 1
30 NG-Nitroarginine Methyl Ester Phase 1
Arginine Investigational, Nutraceutical Phase 1 74-79-3 6322
Iron Approved 7439-89-6 23925 29936
Zinc Approved, Investigational 7440-66-6 32051
Ethanol Approved 64-17-5 702
Zinc protoporphyrin Experimental
Protoporphyrin IX Experimental 553-12-8
37 Anti-Retroviral Agents
38 Photosensitizing Agents
39 Dermatologic Agents
40 Hormones
41 Liver Extracts

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 An Open Label Study to Evaluate the Safety and Efficacy of Nitrogen Mustard (Mechlorethamine - MCH) 0.04% Formulation in Patients With Stage I-IIA Mycosis Fungoides Who Have Completed 12 Months Treatment Without a Complete Response Completed NCT00535470 Phase 2 0.04% Mechlorethamine gel
2 A Phase II Pivotal Trial to Evaluate the Safety and Efficacy of Nitrogen Mustard (NM) 0.02% Ointment Formulations in Patients With Stage I or IIA Mycosis Fungoides (MF) Completed NCT00168064 Phase 2 mechlorethamine-MCH (nitrogen mustard)
3 Prospective, Open-Label, Randomized Study of Combination Therapy of MYOCET® Plus Cyclophosphamide and Trastuzumab Versus Free Doxorubicin Plus Cyclophosphamide Alone, Each Followed by Docetaxel and Trastuzumab, in Neoadjuvant Setting in Treatment-Naive Patients With HER2-Positive Breast Cancer Completed NCT00712881 Phase 2 MYOCET® Plus Cyclophosphamide and Trastuzumab, 4 cycles, followed by Docetaxel plus Trastuzumab, 4 cycles;Free Doxorubicin Plus Cyclophosphamide, 4 cycles, followed by Docetaxel plus Trastuzumab, 4 cycles
4 The Effect of Antioxidants on Skin Blood Flow-BH4 Completed NCT03680573 Phase 1 Control: Lacated Ringers;Apocynin;Allopurinol;BH4;NG Nitro L Arginine Methyl Ester;Sodium Nitroprusside;Acetyl-ß-methylcholine chloride
5 Strategies to Optimize Antiretroviral Therapy Services for Maternal & Child Health: the MCH-ART Study Unknown status NCT01933477
6 Structural Hinders to and Promoters of Good Maternal Care in Rural China Completed NCT01006317
7 Advancing Community Level Action for Improving MCH/PMTCT (ACCLAIM): A Multi-Country Randomized Trial to Evaluate the Effectiveness of Selected Community-Level Interventions on Key MCH/PMTCT Outcomes Completed NCT01971710
8 Early ART Initiation Among HIV-positive Pregnant Women in Central Mozambique Completed NCT02371265
9 Piloting At-birth Point of Care HIV Testing Strategies in Kenya Completed NCT03435887
10 The Association Between the Distributions MCH and RBC, and Mortality in a Cohort of Chronic Hemodialysis Patients: a 3-year Retrospective Observational Study Completed NCT04227158
11 Evaluating the Effectiveness of Point-of-care Diagnostic Technologies in MCH Services and Their Impact on Mother and Child Health Outcomes in Cabo Delgado Province, Mozambique Completed NCT02191527
12 A Community Randomized Study to Evaluate the Effect of a Community-Based Peer Facilitator Intervention on Prevention of Maternal to Child Transmission (PMTCT) of HIV Program Outcomes in Zimbabwe Completed NCT02496793
13 Non-invasive Diagnostics of Iron Deficiency in Surgical Patients by Measuring Zinc Protoporphyrin-IX Completed NCT03071497
14 A Multidisciplinary "Integrated Management Team to Improve Maternal-Child Outcomes (IMPROVE)" Intervention to Improve Maternal and Child Outcomes and HIV Service and Antiretroviral Therapy Uptake and Retention in Lesotho Completed NCT04598958
15 An Important Index on Severity of Coronavirus Disease: Erythrocyte Haemoglobin Concentration Recruiting NCT04377607
16 Using the DNA Exome Sequencing Tools to Explore the Association Among Gene Sequence, TCM Pattern, TCM Tongue Diagnosis and TCM Pulse Diagnosis for Sjögren's Syndrome Active, not recruiting NCT03935373
17 mWACh-PrEP: A SMS-based Support Intervention to Enhance PrEP Adherence During Pregnancy and Breastfeeding Not yet recruiting NCT04472884
18 Awareness & Use of Emergency Contraception Among Women Attending Kidwany MCH Center , Assiut City Not yet recruiting NCT04172584

Search NIH Clinical Center for Childhood Myocerebrohepatopathy Spectrum

Genetic Tests for Childhood Myocerebrohepatopathy Spectrum

Genetic tests related to Childhood Myocerebrohepatopathy Spectrum:

# Genetic test Affiliating Genes
1 Childhood Myocerebrohepatopathy Spectrum Disorders 29

Anatomical Context for Childhood Myocerebrohepatopathy Spectrum

MalaCards organs/tissues related to Childhood Myocerebrohepatopathy Spectrum:

Liver, Pancreas, Skin, Tongue, Lymph Node, Spleen

Publications for Childhood Myocerebrohepatopathy Spectrum

Articles related to Childhood Myocerebrohepatopathy Spectrum:

(show top 50) (show all 88)
# Title Authors PMID Year
Hydraulic and Thermal Performance of Microchannel Heat Sink Inserted with Pin Fins. 61
33670962 2021
Delivering dental health promotion in developing countries: should this be carried out by non-dental professionals? 61
33772124 2021
A natural post-emergence herbicide based on essential oil encapsulation by cross-linked biopolymers: characterization and herbicidal activity. 61
32803609 2020
Urine Antigen Testing is Equally Sensitive to B. dermatitidis and B. gilchristii Infections. 61
32571776 2020
Rural Telehealth Use during the COVID-19 Pandemic: How Long-term Infrastructure Commitment May Support Rural Health Care Systems Resilience. 61
32921284 2020
Facile synthesis of polypyrrole decorated chitosan-based magsorbent: Characterizations, performance, and applications in removing cationic and anionic dyes from aqueous medium. 61
32512098 2020
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice. 61
32418612 2020
An Experimental Study of Microchannel and Micro-Pin-Fin Based On-Chip Cooling Systems with Silicon-to-Silicon Direct Bonding. 61
32992553 2020
Family-centred oral health promotion through Victorian child-health services: a pilot. 61
31006023 2020
Using the maximum clustering heterogeneous set-proportion to select the maximum window size for the spatial scan statistic. 61
32184455 2020
Rapid fabrication of electrode for the detection of alpha fetoprotein based on MnO2 functionalized mesoporous carbon hollow sphere. 61
31761168 2020
Numerical Analysis of Fluid Flow and Heat Transfer in Micro-Channel Heat Sinks with Double-Layered Complex Structure. 61
32013059 2020
Encapsulation of Few-Layer MoS2 in the Pores of Mesoporous Carbon Hollow Spheres for Lithium-Sulfur Batteries. 61
31484297 2019
Analysis and Optimization of a Microchannel Heat Sink with V-Ribs Using Nanofluids for Micro Solar Cells. 61
31533305 2019
Mesoporous carbon hollow spheres as a light weight microwave absorbing material showing modulating dielectric loss. 61
31184651 2019
POLG-related disorders and their neurological manifestations. 61
30451971 2019
Numerical Study of Double-Layered Microchannel Heat Sinks with Different Cross-Sectional Shapes. 61
33266732 2018
Elicited ROS Scavenging Activity, Photoprotective, and Wound-Healing Properties of Collagen-Derived Peptides from the Marine Sponge Chondrosia reniformis. 61
30477144 2018
Prevalence of frailty, cognitive impairment, and sarcopenia in outpatients with cardiometabolic disease in a frailty clinic. 61
30400831 2018
The Scaffold Design of Trivalent Chelator Heads Dictates Affinity and Stability for Labeling His-tagged Proteins in vitro and in Cells. 61
29845721 2018
Investigation of the Temperature Fluctuation of Single-Phase Fluid Based Microchannel Heat Sink. 61
29747477 2018
Mesoporous carbon hollow spheres: carbonisation-temperature-dependent delivery of therapeutic proteins. 61
32254263 2018
Analysis and Optimization of Trapezoidal Grooved Microchannel Heat Sink Using Nanofluids in a Micro Solar Cell. 61
33265098 2017
The presence of anaemia negatively influences survival in patients with POLG disease. 61
28865037 2017
Dual Core-Shell-Structured S@C@MnO2 Nanocomposite for Highly Stable Lithium-Sulfur Batteries. 61
28817251 2017
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 61
28480171 2017
Supporting Family Caregivers of Persons With Dementia in the Community: Description of the 'Memory Care Home Solutions' Program and Its Impacts. 61
29876527 2017
Surfactant-Free Assembly of Mesoporous Carbon Hollow Spheres with Large Tunable Pore Sizes. 61
27050771 2016
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report. 61
25466440 2015
Mesenchymal chondrosarcoma of the mandible: a rare malignant tumor. 61
25255353 2014
Aligning physician compensation with strategic goals. 61
25076636 2014
A computational linguistic measure of clustering behavior on semantic verbal fluency task predicts risk of future dementia in the nun study. 61
23845236 2014
Functional characterization of two melanin-concentrating hormone genes in the color camouflage, hypermelanosis, and appetite of starry flounder. 61
23660446 2013
Capacity building of skilled birth attendants: a review of pre-service education curricula. 61
23199532 2013
Clinical and molecular features of POLG-related mitochondrial disease. 61
23545419 2013
Role of print and audiovisual media in cervical cancer prevention in Bangladesh. 61
23803091 2013
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 61
22342071 2012
Effects of different warm-up programs on golf performance in elite male golfers. 61
23936749 2012
The character of sleep disturbances produced by multiple administrations of atropine the antagonist of brain muscarinic cholinergic system. 61
22573754 2012
Quiz. Correct answer to the quiz. Check your diagnosis. Mesenchymal chondrosarcoma of the orbit: two cases and a brief review of the literature. 61
22535612 2012
A preliminary investigation of the role of melanin-concentrating hormone (MCH) and its receptors in appetite regulation of winter flounder (Pseudopleuronectes americanus). 61
21945816 2012
Minimal chair height standing ability is independently associated with falls in Taiwanese older people. 61
21704788 2011
Effects of caesarean section on maternal health in low risk nulliparous women: a prospective matched cohort study in Shanghai, China. 61
21122153 2010
POLG-Related Disorders 61
20301791 2010
Nucleoside diphosphate kinase (NDPK, NM23, AWD): recent regulatory advances in endocytosis, metastasis, psoriasis, insulin release, fetal erythroid lineage and heart failure; translational medicine exemplified. 61
19415463 2009
Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma. 61
19667180 2009
Selectivity of competitive multivalent interactions at interfaces. 61
19565593 2009
Evolution and functional divergence of monocarboxylate transporter genes in vertebrates. 61
18674605 2008
Efficient transfer of two large secondary metabolite pathway gene clusters into heterologous hosts by transposition. 61
18701643 2008
Functional analysis of a cell cycle-associated, tumor-suppressive gene, protein tyrosine phosphatase receptor type G, in nasopharyngeal carcinoma. 61
18829573 2008

Variations for Childhood Myocerebrohepatopathy Spectrum

ClinVar genetic disease variations for Childhood Myocerebrohepatopathy Spectrum:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.3(POLG):c.3102del (p.Lys1035fs) Deletion Pathogenic 872916 GRCh37:
2 POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic 206556 rs201732356 GRCh37: 15:89861968-89861968
GRCh38: 15:89318737-89318737

Expression for Childhood Myocerebrohepatopathy Spectrum

Search GEO for disease gene expression data for Childhood Myocerebrohepatopathy Spectrum.

Pathways for Childhood Myocerebrohepatopathy Spectrum

GO Terms for Childhood Myocerebrohepatopathy Spectrum

Sources for Childhood Myocerebrohepatopathy Spectrum

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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