MCID: ENC021
MIFTS: 30

Encephalopathy, Neonatal Severe malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Neonatal Severe

About this section

Aliases & Descriptions for Encephalopathy, Neonatal Severe:

Name: Encephalopathy, Neonatal Severe 51 12
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 51 69
Severe Neonatal-Onset Encephalopathy with Microcephaly 53 26
 
Severe Congenital Encephalopathy Due to Mecp2 Mutation 53
Ens-Mecp2 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
encephalopathy, neonatal severe:
Inheritance: x-linked recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 300673
Orphanet53 ORPHA209370
ICD10 via Orphanet30 Q02
MedGen36 C1968556
MeSH38 D001927

Summaries for Encephalopathy, Neonatal Severe

About this section
OMIM:51 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 progressive microcephaly, seizures and global developmental delay. An important gene associated with Encephalopathy, Neonatal Severe is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include brain and neutrophil.

UniProtKB/Swiss-Prot:69 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

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1mecp2-related severe neonatal encephalopathy11.0

Symptoms for Encephalopathy, Neonatal Severe

About this section

Symptoms by clinical synopsis from OMIM:

300673

Clinical features from OMIM:

300673

Human phenotypes related to Encephalopathy, Neonatal Severe:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 progressive microcephaly63 HP:0000253
2 seizures63 HP:0001250
3 global developmental delay63 HP:0001263
4 encephalopathy63 HP:0001298
5 myoclonus63 HP:0001336
6 hyperreflexia63 HP:0001347
7 failure to thrive63 HP:0001508
8 gastroesophageal reflux63 HP:0002020
9 rigidity63 HP:0002063
10 respiratory insufficiency63 HP:0002093
11 apnea63 HP:0002104
12 polymicrogyria63 HP:0002126
13 eeg abnormality63 HP:0002353
14 intellectual disability, progressive63 HP:0006887
15 central hypoventilation63 HP:0007110
16 feeding difficulties in infancy63 HP:0008872
17 muscular hypotonia of the trunk63 HP:0008936
18 intellectual disability, severe63 HP:0010864

UMLS symptoms related to Encephalopathy, Neonatal Severe:


myoclonus, seizures, rigidity of limbs

Drugs & Therapeutics for Encephalopathy, Neonatal Severe

About this section

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

(show top 50)    (show all 88)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Magnesium Sulfateapproved, vet_approvedPhase 4, Phase 2, Phase 31687487-88-924083
Synonyms:
(C10-C16) Alkylalcohol sulfuric acid, magnesium salt
00627_FLUKA
10028-26-9
10034-99-8 (heptahydrate)
13143_RIEDEL
13143_SIAL
139939-75-6
18939-43-0
203726_ALDRICH
208094_SIAL
34276_FLUKA
34276_RIEDEL
38146_FLUKA
38146_RIEDEL
63126_FLUKA
63136_FLUKA
63136_SIAL
63139_FLUKA
63139_SIAL
68081-97-0
7487-88-9
AC1L2N76
AC1LAX36
AC1Q1U66
AI3-02029
Bitter salt
C10-C16 Alkyl alcohol sulfuric acid magnesium salt
CCRIS 8411
CHEBI:32599
CID24083
CPD0-2390
Caswell No. 534
D008278
DB00653
EINECS 231-298-2
EINECS 233-073-4
EINECS 242-691-3
EINECS 268-365-0
EPA Pesticide Chemical Code 050503
Epsom salt
HSDB 664
Hair salt
Heptahydrate Magnesium Sulfate
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
MAGNESIUM SULFATE
Magnesium Sulfate In Plastic Container
Magnesium Sulfate, Heptahydrate
Magnesium Sulphate Hydrate
Magnesium bisulfate
Magnesium hydrogensulphate
Magnesium sulfate
Magnesium sulfate (1:1)
Magnesium sulfate anhydrous
Magnesium sulfate dried
Magnesium sulfate heptahydrate
Magnesium sulfate hexahydrate
Magnesium sulfate in dextrose 5% in plastic container
Magnesium sulfate solution
Magnesium sulphate
Magnesium sulphate anhydrous
Magnesium sulphate dried
Magnesium sulphate heptahydrate
Magnesium(II) sulfate
Magnesium(ii) sulfate
Magnesiumsulfat
MgSO4
MolPort-003-925-000
NSC 146179
OT-S
OT-S (drying agent)
SDA 15-062-07
Sal Angalis
Sal De sedlitz
Sal amarum
Sal anglicum
Sal catharticum
Sal seidlitense
Salts of england
Sel d'angleterre
Sulfate, Magnesium
Sulfuric acid magnesium salt
Sulfuric acid magnesium salt (1:1)
Sulfuric acid magnesium salt (VAN)
Sulfuric acid, C10-16 alkyl ester, magnesium salt
Sulfuric acid, magnesium salt
Sulfuric acid, magnesium salt (1:1)
Sulfuric acid, mono-C10-16-alkyl esters, magnesium salts
Tomix OT
UNII-DE08037SAB
UNII-ML30MJ2U7I
magnesium(2+) ion sulfate
2
Betamethasoneapproved, vet_approvedPhase 4183378-44-99782
Synonyms:
.beta.-Methasone
.beta.-Methasone alcohol
1,4-Pregnadiene-3,20-dione-9alpha-fluoro-16 beta-methyl-11 beta,17alpha,21-triol
16beta-Methyl-1,4-pregnadiene-9alpha-fluoro-11beta,17alpha,21-triol-3,20-dione
16β-Methyl-1,4-pregnadiene-9α-fluoro-11β,17α,21-triol-3,20-dione
24024-03-1
34166_FLUKA
34166_RIEDEL
378-44-9
4-08-00-03501 (Beilstein Handbook Reference)
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11-beta,17,21-trihydroxy-16-beta-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11.beta.,17,21-trihydroxy-16.beta.-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11beta,17,21-trihydroxy-16beta-methylpregna-1,4-diene-3,20-dione
9-Fluoro-16.beta.-methylprednisolone
9-Fluoro-16beta-methylprednisolone
9-Fluoro-16β-methylprednisolone
9-alpha-Fluoro-16-beta-methylprednisolone
9.alpha.-Fluoro-16.beta.-methylprednisolone
9alpha-Fluoro-16 beta-methyl-prednisolone
9alpha-Fluoro-16beta-methylprednisolone
9α-Fluoro-16β-methylprednisolone
AC1L1EYE
AC1L1TT4
AC1Q5HJZ
AKOS001582690
AR-1A7284
AR-1H5595
B1837
B7005_SIAL
B7005_SIGMA
B9675_SIAL
BIDD:PXR0047
BPBio1_000533
BRD-A35108200-001-04-7
BRD-K39188321-001-03-9
BRN 3176546
BSPBio_000483
Bebate
Becort
Bedifos
Betacorlan
Betacortril
Betadexamethasone
Betafluorene
Betamamallet
Betametasona
Betametasona [INN-Spanish]
Betametasone
Betametasone [DCIT]
Betamethasone
Betamethasone (JP15/USP/INN)
Betamethasone Base
Betamethasone Valearate
Betamethasone [USAN:BAN:INN:JAN]
Betamethasone [USAN:INN:BAN:JAN]
Betamethasone alcohol
Betamethasone cream
Betamethasonum
Betamethasonum [INN-Latin]
Betamethasonvalerat Mikron
Betamethazone
Betapredol
Betasolon
Betnelan
 
Betsolan
C22H29FO5
CHEBI:3077
CHEMBL632
CID3003
CID9782
CPD000339803
Celestene
Celeston
Celestona
Celestone
Celestone Syrup and Tablets
Celestone, Betadexamethasone, Flubenisolone, Sch-4831, NCS-39470, Betamethasone
Cellestoderm
Cidoten
D00244
D1961
DB00443
Desacort-Beta
EINECS 206-825-4
Flubenisolone
HMS1569I05
HSDB 3015
Hormezon
I06-0121
KST-1A3042
LS-118466
LT00441022
Luxiq
Luxiqo
MLS-0310139.0001
MLS000686794
MLS000859943
MLS001066413
MLS001332616
MLS002153244
Methazon
MolPort-003-845-025
MolPort-007-981-051
NCGC00164401-01
NCGC00164401-02
NSC 39470
NSC-39470
NSC39470
Prestwick0_000362
Prestwick1_000362
Prestwick2_000362
Prestwick3_000362
Prestwick_703
Rinderon
Rinderon (TN)
Rinderon A
S1500_Selleck
SAM002589959
SCH 4831
SCH-4831
SMP1_000043
SMR000058601
SMR000339803
SPBio_002404
UNII-9842X06Q6M
Valisone
Visubeta
ZINC03876136
beta-Methasone
beta-Methasone alcohol
betamethasone
3
Vitamin Capproved, nutraceuticalPhase 451450-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
4
Vitamin Eapproved, nutraceutical, vet_approvedPhase 440659-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
5VitaminsPhase 4, Phase 25095
6Trace ElementsPhase 4, Phase 25802
7Pharmaceutical SolutionsPhase 4, Phase 3, Phase 2, Phase 17793
8MicronutrientsPhase 4, Phase 25802
9Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 3, Phase 122776
10Protective AgentsPhase 4, Phase 3, Phase 2, Phase 17190
11Tocolytic AgentsPhase 4, Phase 2, Phase 3, Phase 1708
12Anti-Inflammatory AgentsPhase 4, Phase 2, Phase 110355
13TocotrienolsPhase 4402
14Calcium, DietaryPhase 4, Phase 2, Phase 35525
15
BilirubinPhase 4112635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
16Central Nervous System DepressantsPhase 4, Phase 2, Phase 3, Phase 112806
17calcium channel blockersPhase 4, Phase 2, Phase 31940
18TocopherolsPhase 4406
19AntioxidantsPhase 4, Phase 2, Phase 3, Phase 12928
20AnestheticsPhase 4, Phase 2, Phase 39001
21AnalgesicsPhase 4, Phase 2, Phase 3, Phase 111287
22AnticonvulsantsPhase 4, Phase 2, Phase 32620
23Anti-Arrhythmia AgentsPhase 4, Phase 2, Phase 32969
24Respiratory System AgentsPhase 4, Phase 2, Phase 34818
25Anti-Asthmatic AgentsPhase 4, Phase 2, Phase 33369
26Hormone AntagonistsPhase 412778
27HormonesPhase 413979
28Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
29glucocorticoidsPhase 44920
30Betamethasone benzoatePhase 4183
31Betamethasone-17,21-dipropionatePhase 4183
32Betamethasone sodium phosphatePhase 4183
33Betamethasone ValeratePhase 41832152-44-5
34TocopherolNutraceuticalPhase 4406
35TocotrienolNutraceuticalPhase 4402
36
BenzocaineapprovedPhase 318921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
37
DopamineapprovedPhase 3375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
38
Nitric OxideapprovedPhase 2, Phase 359910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
39tannic acidapproved, NutraceuticalPhase 31892
40HematinicsPhase 3, Phase 1, Phase 21630
41Neurotransmitter AgentsPhase 3, Phase 2, Phase 117734
42Antihypertensive AgentsPhase 2, Phase 3, Phase 14095
43Epoetin alfaPhase 3, Phase 2645113427-24-0
44Adrenergic AgentsPhase 2, Phase 3, Phase 15140
45Autonomic AgentsPhase 3, Phase 2, Phase 19774
46Dopamine AgentsPhase 33759
47Bronchodilator AgentsPhase 2, Phase 32856
48Vasodilator AgentsPhase 2, Phase 33438
49Endothelium-Dependent Relaxing FactorsPhase 2, Phase 3272
50
Darbepoetin alfaapproved, investigationalPhase 1, Phase 217311096-26-7, 209810-58-2
Synonyms:
 
Darbepoetin
Darbepoetin alfa,recombinant

Interventional clinical trials:

(show top 50)    (show all 69)
idNameStatusNCT IDPhase
1Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn InfantUnknown statusNCT02156050Phase 4
2Single High Dose Vitamin C, E in Severe Birth AsphyxiaCompletedNCT01743742Phase 4
3Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm BirthCompletedNCT00120588Phase 4
4Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase DeficiencyRecruitingNCT02594904Phase 4
5Antenatal Rescue Course of Glucocorticoids in Threatened Premature BirthTerminatedNCT00295464Phase 4
6Supreme-LMA for Neonatal Resuscitation: a Prospective, Randomized Single-center StudyUnknown statusNCT01963936Phase 3
7Safety and Efficacy of Hypothermia to Treat Neonatal Hypoxic-Ischemic EncephalopathyCompletedNCT00890409Phase 3
8Late Hypothermia for Hypoxic-Ischemic EncephalopathyCompletedNCT00614744Phase 2, Phase 3
9Whole-Body Cooling for Birth Asphyxia in Term InfantsCompletedNCT00005772Phase 3
10Hypothermia Enhanced by Magnesium SulphateCompletedNCT02499393Phase 2, Phase 3
11Newborn Ventilation in the Delivery Room: Could it be Improved With a T-piece Resuscitator?CompletedNCT00443118Phase 3
12Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)CompletedNCT00014989Phase 3
13Preemie Hypothermia for Neonatal EncephalopathyRecruitingNCT01793129Phase 2, Phase 3
14High-dose Erythropoietin for Asphyxia and EncephalopathyRecruitingNCT02811263Phase 3
15Management of Hypotension In the Preterm InfantRecruitingNCT01482559Phase 3
16Efficacy of Erythropoietin to Improve Survival and Neurological Outcome in Hypoxic Ischemic EncephalopathyActive, not recruitingNCT01732146Phase 3
17Inhaled Nitric Oxide and Neuroprotection in Premature InfantsActive, not recruitingNCT00515281Phase 2, Phase 3
18Optimizing (Longer, Deeper) Cooling for Neonatal Hypoxic-Ischemic Encephalopathy(HIE)TerminatedNCT01192776Phase 3
19Labetalol Versus Magnesium Sulfate (MgSO4) for the Prevention of Eclampsia TrialWithdrawnNCT00293735Phase 2, Phase 3
20A Study of 2-Iminobiotin in Neonates With Perinatal AsphyxiaUnknown statusNCT01626924Phase 2
21Moderate Hypothermia in Neonatal Hypoxic Ischemic EncephalopathyCompletedNCT02826941Phase 2
22Darbe Administration in Newborns Undergoing Cooling for EncephalopathyCompletedNCT01471015Phase 1, Phase 2
23Study of Cerebrolysin for Treatment of Infants With History of Neonatal Hypoxic Ischemic EncephalopathyCompletedNCT01059461Phase 2
24Randomized Trial of Hydrocortisone in Very Preterm High-Risk InfantsCompletedNCT00167544Phase 2
25A Multi-site Study of Autologous Cord Blood Cells for Hypoxic Ischemic EncephalopathyRecruitingNCT02612155Phase 2
26Effects of Delayed Cord Clamp and/or Indomethacin on Preterm Infant Brain InjuryRecruitingNCT02221219Phase 1, Phase 2
27SafeBoosC - a Phase II TrialActive, not recruitingNCT01590316Phase 2
28Autologous Cord Blood and Human Placental Derived Stem Cells in Neonates With Severe Hypoxic-Ischemic EncephalopathyNot yet recruitingNCT02434965Phase 2
29High-Dose Erythropoietin in Extremely Premature Infants to Prevent/Attenuate Brain Injury: A Phase II StudyTerminatedNCT00589953Phase 2
30Autologous Cord Blood Cell Therapy for Neonatal EncephalopathyRecruitingNCT02256618Phase 1
31Hypoxic-Ischemic Encephalopathy Therapy Optimization in Neonates for Better Neuroprotection With Inhalative CO2RecruitingNCT02700854Phase 1
32Phase I Clinical Trial to Determine the Safety of Clonidine in Infants With HIE During Therapeutic Hypothermia.RecruitingNCT02252848Phase 1
33Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
34Cord Blood for Neonatal Hypoxic-ischemic EncephalopathyActive, not recruitingNCT00593242Phase 1
35Melatonin Treatment for Newborn Infants With Moderate to Severe Hypoxic Ischemic EncephalopathyWithdrawnNCT01904786Phase 1
36New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseUnknown statusNCT02356978
37Plasma Neutrophil Gelatinase-associated Lipocalin (NGAL) as Early Biomarker for Renal Dysfunction and Good Neurologic Outcome in Out of Hospital Cardiac Arrest PatientsUnknown statusNCT01987466
38Evaluation of Essential Surgical Skills-Emergency Maternal and Child Health (ESS-EMCH) Training by Assessing the Doctors' PracticesUnknown statusNCT00880204
39The Impact of Electroencephalographic (EEG) Seizure Treatment in Neonatal EncephalopathyCompletedNCT01027715
40CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic EncephalopathyCompletedNCT00383305
41Determining Prevalence of Acute Bilirubin Encephalopathy in Developing CountriesCompletedNCT01754688
42TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal AsphyxiaCompletedNCT00147030
43California Transport Cooling TrialCompletedNCT01683383
44First Breath: Neonatal Resuscitation in Developing CountriesCompletedNCT00136708
45Prediction of Major Bleeding in ELBW-infants (<1000g) by Sequential Coagulation MonitoringCompletedNCT01976013
46Early Determinants of Multidimensional Outcome at School Age After Neonatal Arterial Ischemic StrokeCompletedNCT02511249
47Oral Titrated Misoprostol for Induction of LabourCompletedNCT00992524
48Clinical, Biochemical, Histological and Biophysical Parameters in the Prediction of Cerebral Palsy in Patients With Preterm Labor and Premature Rupture of MembranesCompletedNCT00342667
49Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
50The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot StudyCompletedNCT01917344

Search NIH Clinical Center for Encephalopathy, Neonatal Severe

Genetic Tests for Encephalopathy, Neonatal Severe

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Genetic tests related to Encephalopathy, Neonatal Severe:

id Genetic test Affiliating Genes
1 Severe Neonatal-Onset Encephalopathy with Microcephaly26

Anatomical Context for Encephalopathy, Neonatal Severe

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MalaCards organs/tissues related to Encephalopathy, Neonatal Severe:

35
Brain, Neutrophil

Animal Models for Encephalopathy, Neonatal Severe or affiliated genes

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Publications for Encephalopathy, Neonatal Severe

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Variations for Encephalopathy, Neonatal Severe

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Clinvar genetic disease variations for Encephalopathy, Neonatal Severe:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)SNVPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
2MECP2MECP2, 1-BP DEL, 806GdeletionPathogenicChr na, -1: -1
3MECP2NM_004992.3(MECP2): c.808C> T (p.Arg270Ter)SNVPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
4MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenicChr na, -1: -1
5MECP2NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs)deletionPathogenicrs61752992GRCh37Chr X, 153296072: 153296115
6MECP2NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs)deletionPathogenicrs267608428GRCh38Chr X, 154032464: 154032465
7MECP2NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs)deletionPathogenicrs267608488GRCh37Chr X, 153296790: 153296791
8MECP2NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs)duplicationPathogenicrs61749751GRCh37Chr X, 153296526: 153296526
9MECP2NM_004992.3(MECP2): c.808delC (p.Arg270Glufs)deletionPathogenicrs62931162GRCh37Chr X, 153296471: 153296471
10MECP2NM_001110792.1(MECP2): c.414-3_419delCAGTCCCCAdeletionPathogenicrs267608466GRCh38Chr X, 154031445: 154031453
11MECP2NM_004992.3(MECP2): c.806delG (p.Gly269Alafs)deletionPathogenicrs61750241GRCh37Chr X, 153296473: 153296473

Expression for genes affiliated with Encephalopathy, Neonatal Severe

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

Pathways for genes affiliated with Encephalopathy, Neonatal Severe

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GO Terms for genes affiliated with Encephalopathy, Neonatal Severe

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Sources for Encephalopathy, Neonatal Severe

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet