ENS-MECP2
MCID: ENC021
MIFTS: 29

Encephalopathy, Neonatal Severe (ENS-MECP2) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Neonatal Severe

Aliases & Descriptions for Encephalopathy, Neonatal Severe:

Name: Encephalopathy, Neonatal Severe 54 13
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 54 66
Severe Neonatal-Onset Encephalopathy with Microcephaly 56 29
Severe Congenital Encephalopathy Due to Mecp2 Mutation 56
Ens-Mecp2 66

Characteristics:

Orphanet epidemiological data:

56
severe neonatal-onset encephalopathy with microcephaly
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
encephalopathy, neonatal severe:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 300673
Orphanet 56 ORPHA209370
ICD10 via Orphanet 34 Q02
MedGen 40 C1968556
MeSH 42 D001927

Summaries for Encephalopathy, Neonatal Severe

OMIM : 54 The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always... (300673) more...

MalaCards based summary : Encephalopathy, Neonatal Severe, also known as encephalopathy, neonatal severe, due to mecp2 mutations, is related to mecp2-related severe neonatal encephalopathy, and has symptoms including seizures, myoclonus and hyperreflexia. An important gene associated with Encephalopathy, Neonatal Severe is MECP2 (Methyl-CpG Binding Protein 2). The drugs Magnesium Sulfate and Betamethasone have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 Encephalopathy, neonatal severe, due to MECP2 mutations: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.

Related Diseases for Encephalopathy, Neonatal Severe

Diseases in the Encephalopathy, Neonatal Severe family:

Mecp2-Related Severe Neonatal Encephalopathy

Diseases related to Encephalopathy, Neonatal Severe via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mecp2-related severe neonatal encephalopathy 11.0

Symptoms & Phenotypes for Encephalopathy, Neonatal Severe

Symptoms by clinical synopsis from OMIM:

300673

Clinical features from OMIM:

300673

Human phenotypes related to Encephalopathy, Neonatal Severe:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 hyperreflexia 32 HP:0001347
4 failure to thrive 32 HP:0001508
5 respiratory insufficiency 32 HP:0002093
6 eeg abnormality 32 HP:0002353
7 global developmental delay 32 HP:0001263
8 gastroesophageal reflux 32 HP:0002020
9 feeding difficulties in infancy 32 HP:0008872
10 intellectual disability, severe 32 HP:0010864
11 apnea 32 HP:0002104
12 intellectual disability, progressive 32 HP:0006887
13 rigidity 32 HP:0002063
14 polymicrogyria 32 HP:0002126
15 encephalopathy 32 HP:0001298
16 central hypoventilation 32 HP:0007110
17 muscular hypotonia of the trunk 32 HP:0008936
18 progressive microcephaly 32 HP:0000253

UMLS symptoms related to Encephalopathy, Neonatal Severe:


myoclonus, seizures, limb rigidity

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

Drugs for Encephalopathy, Neonatal Severe (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Vet_approved Phase 4,Phase 2,Phase 3 7487-88-9 24083
2
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
3
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-02-9 14985
5 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1
6 Micronutrients Phase 4,Phase 2
7 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Tocopherols Phase 4,Phase 2
9 Tocotrienols Phase 4,Phase 2
10 Trace Elements Phase 4,Phase 2
11 Vitamins Phase 4,Phase 2
12 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
13 Anesthetics Phase 4,Phase 2,Phase 3
14 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
15 Anticonvulsants Phase 4,Phase 2,Phase 3
16 calcium channel blockers Phase 4,Phase 2,Phase 3
17 Calcium, Dietary Phase 4,Phase 2,Phase 3
18 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
19 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
20 Tocolytic Agents Phase 4,Phase 2,Phase 3,Phase 1
21
Bilirubin Phase 4 635-65-4 5280352
22 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
23 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1
24 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3
25 Respiratory System Agents Phase 4,Phase 2,Phase 3
26 Betamethasone benzoate Phase 4
27 Betamethasone sodium phosphate Phase 4
28 Betamethasone Valerate Phase 4 2152-44-5
29 Betamethasone-17,21-dipropionate Phase 4
30 glucocorticoids Phase 4
31 Hormone Antagonists Phase 4
32 Hormones Phase 4
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
34 Tocopherol Nutraceutical Phase 4,Phase 2
35 Tocotrienol Nutraceutical Phase 4,Phase 2
36
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
37
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
38
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
39
Allopurinol Approved Phase 3 315-30-0 2094
40
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
41 tannic acid Approved, Nutraceutical Phase 3
42 Hematinics Phase 3,Phase 1,Phase 2
43 Epoetin alfa Phase 3,Phase 2 113427-24-0
44 Autonomic Agents Phase 3,Phase 2,Phase 1
45 Dopamine Agents Phase 3
46 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
47 Antimetabolites Phase 3,Phase 2
48 Antirheumatic Agents Phase 3,Phase 1,Phase 2
49 Adrenergic Agents Phase 2, Phase 3,Phase 1
50 Antihypertensive Agents Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 79)
id Name Status NCT ID Phase
1 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
2 Single High Dose Vitamin C, E in Severe Birth Asphyxia Completed NCT01743742 Phase 4
3 Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm Birth Completed NCT00120588 Phase 4
4 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Recruiting NCT02594904 Phase 4
5 Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth Terminated NCT00295464 Phase 4
6 Supreme-LMA for Neonatal Resuscitation: a Prospective, Randomized Single-center Study Unknown status NCT01963936 Phase 3
7 Safety and Efficacy of Hypothermia to Treat Neonatal Hypoxic-Ischemic Encephalopathy Completed NCT00890409 Phase 3
8 Late Hypothermia for Hypoxic-Ischemic Encephalopathy Completed NCT00614744 Phase 2, Phase 3
9 Whole-Body Cooling for Birth Asphyxia in Term Infants Completed NCT00005772 Phase 3
10 Hypothermia Enhanced by Magnesium Sulphate Completed NCT02499393 Phase 2, Phase 3
11 Newborn Ventilation in the Delivery Room: Could it be Improved With a T-piece Resuscitator? Completed NCT00443118 Phase 3
12 Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial) Completed NCT00014989 Phase 3
13 Preemie Hypothermia for Neonatal Encephalopathy Recruiting NCT01793129 Phase 2, Phase 3
14 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3
15 High-dose Erythropoietin for Asphyxia and Encephalopathy Recruiting NCT02811263 Phase 3
16 Management of Hypotension In the Preterm Infant Recruiting NCT01482559 Phase 3
17 Efficacy of Erythropoietin to Improve Survival and Neurological Outcome in Hypoxic Ischemic Encephalopathy Active, not recruiting NCT01732146 Phase 3
18 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3
19 Erythropoietin in Management of Neonatal Hypoxic Ischemic Encephalopathy Not yet recruiting NCT03163589 Phase 3
20 Effect of Allopurinol for Hypoxic-ischemic Brain Injury on Neurocognitive Outcome Not yet recruiting NCT03162653 Phase 3
21 Optimizing (Longer, Deeper) Cooling for Neonatal Hypoxic-Ischemic Encephalopathy(HIE) Terminated NCT01192776 Phase 3
22 Labetalol Versus Magnesium Sulfate (MgSO4) for the Prevention of Eclampsia Trial Withdrawn NCT00293735 Phase 2, Phase 3
23 Moderate Hypothermia in Neonatal Hypoxic Ischemic Encephalopathy Completed NCT02826941 Phase 2
24 Darbe Administration in Newborns Undergoing Cooling for Encephalopathy Completed NCT01471015 Phase 1, Phase 2
25 Study of Cerebrolysin for Treatment of Infants With History of Neonatal Hypoxic Ischemic Encephalopathy Completed NCT01059461 Phase 2
26 Randomized Trial of Hydrocortisone in Very Preterm High-Risk Infants Completed NCT00167544 Phase 2
27 A Multi-site Study of Autologous Cord Blood Cells for Hypoxic Ischemic Encephalopathy Recruiting NCT02612155 Phase 2
28 Xenon and Cooling Therapy in Babies at High Risk of Brain Injury Following Poor Condition at Birth Recruiting NCT02071394 Phase 2
29 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
30 Effects of Delayed Cord Clamp and/or Indomethacin on Preterm Infant Brain Injury Recruiting NCT02221219 Phase 1, Phase 2
31 Autologous Cord Blood and Human Placental Derived Stem Cells in Neonates With Severe Hypoxic-Ischemic Encephalopathy Not yet recruiting NCT02434965 Phase 2
32 A Study of 2-Iminobiotin in Neonates With Perinatal Asphyxia Terminated NCT01626924 Phase 2
33 High-Dose Erythropoietin in Extremely Premature Infants to Prevent/Attenuate Brain Injury: A Phase II Study Terminated NCT00589953 Phase 2
34 Cord Blood for Neonatal Hypoxic-ischemic Encephalopathy Completed NCT00593242 Phase 1
35 Autologous Cord Blood Cell Therapy for Neonatal Encephalopathy Recruiting NCT02256618 Phase 1
36 Hypoxic-Ischemic Encephalopathy Therapy Optimization in Neonates for Better Neuroprotection With Inhalative CO2 Recruiting NCT02700854 Phase 1
37 Phase I Clinical Trial to Determine the Safety of Clonidine in Infants With HIE During Therapeutic Hypothermia. Recruiting NCT02252848 Phase 1
38 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
39 Melatonin Treatment for Newborn Infants With Moderate to Severe Hypoxic Ischemic Encephalopathy Withdrawn NCT01904786 Phase 1
40 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978
41 Plasma Neutrophil Gelatinase-associated Lipocalin (NGAL) as Early Biomarker for Renal Dysfunction and Good Neurologic Outcome in Out of Hospital Cardiac Arrest Patients Unknown status NCT01987466
42 Evaluation of Essential Surgical Skills-Emergency Maternal and Child Health (ESS-EMCH) Training by Assessing the Doctors' Practices Unknown status NCT00880204
43 S100B as a Marker of Brain Injury of Preterm Infants Unknown status NCT02082535
44 Pharmacokinetics of Ampicillin in Neonates With Moderate to Severe Hypoxic-Ischemic Encephalopathy Completed NCT03129620
45 The Impact of Electroencephalographic (EEG) Seizure Treatment in Neonatal Encephalopathy Completed NCT01027715
46 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305
47 Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries Completed NCT01754688
48 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030
49 California Transport Cooling Trial Completed NCT01683383
50 First Breath: Neonatal Resuscitation in Developing Countries Completed NCT00136708

Search NIH Clinical Center for Encephalopathy, Neonatal Severe

Genetic Tests for Encephalopathy, Neonatal Severe

Genetic tests related to Encephalopathy, Neonatal Severe:

id Genetic test Affiliating Genes
1 Severe Neonatal-Onset Encephalopathy with Microcephaly 29

Anatomical Context for Encephalopathy, Neonatal Severe

Publications for Encephalopathy, Neonatal Severe

Variations for Encephalopathy, Neonatal Severe

ClinVar genetic disease variations for Encephalopathy, Neonatal Severe:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
3 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
4 MECP2 MECP2, 2-BP DEL, 488GG deletion Pathogenic
5 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
6 MECP2 NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs) deletion Pathogenic rs267608428 GRCh37 Chromosome X, 153297915: 153297916
7 MECP2 NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs) deletion Pathogenic rs267608488 GRCh37 Chromosome X, 153296790: 153296791
8 MECP2 NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs) duplication Pathogenic rs61749751 GRCh37 Chromosome X, 153296526: 153296526
9 MECP2 NM_004992.3(MECP2): c.808delC (p.Arg270Glufs) deletion Pathogenic rs62931162 GRCh37 Chromosome X, 153296471: 153296471
10 MECP2 NM_001110792.1(MECP2): c.414-3_419delCAGTCCCCA deletion Pathogenic rs267608466 GRCh38 Chromosome X, 154031445: 154031453

Expression for Encephalopathy, Neonatal Severe

Search GEO for disease gene expression data for Encephalopathy, Neonatal Severe.

Pathways for Encephalopathy, Neonatal Severe

GO Terms for Encephalopathy, Neonatal Severe

Sources for Encephalopathy, Neonatal Severe

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11 DGIdb
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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