MCID: EPL025
MIFTS: 35

Epileptic Encephalopathy, Early Infantile, 2 malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

About this section

Aliases & Descriptions for Epileptic Encephalopathy, Early Infantile, 2:

Name: Epileptic Encephalopathy, Early Infantile, 2 49 11 22 24 67
Issx2 22 67
Eiee2 22 67
Rett Syndrome, Variant, with Infantile Spasms 22
Rett Syndrome Variant with Infantile Spasms 67
 
Rett Syndrome Early-Onset Seizure Variant 67
Atypical Rett Syndrome Hanefeld Variant 67
Infantile Spasm Syndrome, X-Linked 2 22
Atypical Rett Syndrome Cdkl5-Related 67
Infantile Spasm Syndrome X-Linked 2 67


Classifications:



External Ids:

OMIM49 300672
MedGen34 C1839333
MeSH36 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 2

About this section
OMIM:49 EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life... (300672) more...

MalaCards based summary: Epileptic Encephalopathy, Early Infantile, 2, also known as issx2, is related to rett syndrome and epileptic encephalopathy, early infantile, 1, and has symptoms including thick lower lip vermilion, progressive microcephaly and broad forehead. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (Cyclin-Dependent Kinase-Like 5). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Epileptic encephalopathy, early infantile, 2: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

About this section

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 11 Epileptic Encephalopathy, Early Infantile, 24
Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 3
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 16
Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
epileptic encephalopathy, early infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Kcnq2-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome10.4
2epileptic encephalopathy, early infantile, 110.1
3linear skin defects with multiple congenital anomalies 19.9ARX, CDKL5
4palindromic rheumatism9.9ARX, CDKL5
5nephrotic syndrome9.9ARX, CDKL5
6olfactory nerve disease9.9ARX, CDKL5
7substernal goiter9.9ARX, CDKL5
8kashin-beck disease9.8ARX, CDKL5
9epileptic hemiplegia9.8ARX, CDKL5
10disseminated intravascular coagulation9.8ARX, CDKL5
11speech disorder9.8ARX, CDKL5
12epithelioid sarcoma9.7ARX, CDKL5

Graphical network of diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to epileptic encephalopathy, early infantile, 2

Symptoms for Epileptic Encephalopathy, Early Infantile, 2

About this section

Symptoms by clinical synopsis from OMIM:

300672

Clinical features from OMIM:

300672

HPO human phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

(show all 28)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion HP:0000179
2 progressive microcephaly HP:0000253
3 broad forehead HP:0000337
4 anteverted nares HP:0000463
5 deeply set eye HP:0000490
6 stereotypic behavior HP:0000733
7 poor eye contact HP:0000817
8 tapered finger HP:0001182
9 muscular hypotonia HP:0001252
10 global developmental delay HP:0001263
11 myoclonus HP:0001336
12 x-linked dominant inheritance HP:0001423
13 short foot HP:0001773
14 constipation HP:0002019
15 gastroesophageal reflux HP:0002020
16 generalized myoclonic seizures HP:0002123
17 intellectual disability, profound HP:0002187
18 developmental regression HP:0002376
19 hypsarrhythmia HP:0002521
20 inability to walk HP:0002540
21 scoliosis HP:0002650
22 hyperventilation HP:0002883
23 infantile onset HP:0003593
24 short palm HP:0004279
25 prominent forehead HP:0011220
26 infantile spasms HP:0012469
27 small hand HP:0200055
28 epileptic encephalopathy HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

About this section

Drugs for Epileptic Encephalopathy, Early Infantile, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Phase 3
2StrawberryNutraceuticalPhase 371
3
NitrazepamapprovedPhase 27146-22-54506
Synonyms:
1, 3-Dihydro-7-nitro-5-phenyl-2H-1,4-benzodiazepin-2-one
1,3-Dihydro-7-nitro-5-phenyl-2H-1,4-benzodiazepin-2-one
1,3-dihydro-7-Nitro-5-phenyl-2H-1,4-benzodiazepin-2-one
146-22-5
2,3-Dihydro-7-nitro-5-phenyl-1H-1,4-benzodiazepin-2-on
2,3-dihydro-7-Nitro-5-phenyl-1H-1,4-benzodiazepin-2-one
5-24-04-00344 (Beilstein Handbook Reference)
7-Nitro-1,3-dihydro-5-phenyl-2H-1,4-benzodiazepin-2-one
7-Nitro-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-Nitro-5-phenyl-2,3-dihydro-1H-1,4-benzodiazepin-2-one
7-nitro-5-phenyl-1,3-dihydro-1,4-benzodiazepin-2-one
AC-4537
AC1L1IBJ
AC1Q1XWD
AKOS002254707
Aliud Brand of Nitrazepam
Allphar Brand of Nitrazepam
Alodorm
Alphapharma Brand of Nitrazepam
Alpharma Brand of Nitrazepam
Alter Brand of Nitrazepam
Apo-nitrazepam tablets BP
Apodorm
Atempol
BRN 0757185
Benzalin
Benzalin (TN)
Bio-0690
C07487
C15H11N3O3
CCRIS 1931
CHEBI:111745
CHEMBL13209
CID4506
CPD000058302
CSP Brand of Nitrazepam
Calsamin
Calsmin
Cerson
ChemDiv1_022312
D00531
D009567
DB01595
DDSA Brand of Nitrazepam
DEA No. 2834
Dermatech Brand of Nitrazepam
Desitin Brand of Nitrazepam
Dormalon
Dormicum (anticonvulsant)
Dormicum Brand of Nitrazepam
Dormin-5
Dormo-Puren
Dumolid
EINECS 205-665-2
Eatan
Eatan N
Epibenzalin
Epinelbon
Eunoctin
Eunoktin
Gerson
HMS2051F19
HMS650G04
Hipnax
Hipsal
I06-0805
ICN Brand of Nitrazepam
ISOPROPYLACETATE/NITRAZEPAM
Ibrovek
Imadorm
Imeson
Imesont
InChI=1/C15H11N3O3/c19-14-9-16-15(10-4-2-1-3-5-10)12-8-11(18(20)21)6-7-13(12)17-14/h1-8H,9H2,(H,17,19)
Ipersed
LA 1
LA 1 (VAN)
LS-34311
MLS001304053
Magadon
 
Megadon
Mitidin
Mogadan
Mogadon
Mogadone
MolPort-000-302-259
MolPort-000-699-491
N-Desmethylnimetazepam
N3889_SIGMA
NCGC00159358-02
NSC 58775
NSC-58775
NSC58775
Nelbon
Nelmat
Neozepam
Neuchlonic
Nitrados
Nitravet
Nitrazadon
Nitrazep
Nitrazepam (JP15/USAN/INN)
Nitrazepam (TN)
Nitrazepam AL
Nitrazepam [USAN:INN:BAN:JAN]
Nitrazepam-10
Nitrazepam-5
Nitrazepam-neuraxpharm
Nitrazepamum
Nitrazepamum [INN-Latin]
Nitrazepamum [inn-latin]
Nitrempax
Nitrenpax
Nitrodiazepam
Noctesed
Norgine Brand of Nitrazepam
Novanox
Oprea1_476234
PDSP1_000120
PDSP2_000120
Pacisyn
Paxisyn
Pelson
Persopit
Pfleger Brand of Nitrazepam
Protea Brand of Nitrazepam
Radedorm
Relact
Remnos
Rhoxal-nitrazepam
Rhoxalpharma Brand of Nitrazepam
Ro 4-5360
Ro 5-3059
Ro 53-60
S 2000
SAM001246711
SMR000058302
STK806322
Sandoz nitrazepam
Scheurich Brand of Nitrazepam
Serenade
Somitran
Somnased
Somnibel
Somnite
Sonebon
Sonebon Tofraniln A
Sonnolin
Surem
Taurus Brand of Nitrazepam
Trazenin
Unisomnia
United Drug Brand of Nitrazepam
WLN: T67 GMV JN IHJ CNW KR
Wernigerode Brand of Nitrazepam
ZINC04311748
ct-Arzneimittel Brand of Nitrazepam
nchembio747-comp31
neuraxpharm Brand of Nitrazepam
nitrazepam
4
Valproic Acidapproved, investigationalPhase 230299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
5
Carbamazepineapproved, investigationalPhase 2115298-46-42554
Synonyms:
2-azatricyclo[9.4.0.0^{3,8}]pentadeca-1(11),3(8),4,6,9,12,14-heptaene-2-carboxamide
298-46-4
5-Carbamoyl-5H-dibenz(b,f)azepine
5-Carbamoyl-5H-dibenz[b,F]azepine
5-Carbamoyl-5H-dibenz[b,f]azepine
5-Carbamoyl-5H-dibenzo(b,F)azepine
5-Carbamoyl-5H-dibenzo(b,f)azepine
5-Carbamoyldibenzo(b,f)azepine
5-Carbamyl-5H-dibenzo(b,F)azepine
5-Carbamyl-5H-dibenzo(b,f)azepine
5-Carbamyldibenzo(b,f)azepine
5H-Dibenz(b,F)azepine-5-carboxamide
5H-Dibenz(b,f)azepine-5-carboxamide
5H-Dibenz[b,f]azepine-5- carboxamide
5H-Dibenz[b,f]azepine-5-carboxamide
5H-Dibenzo[b,f]azepine-5-carboxamide
85756-57-6 (di-hydrate)
AC-10560
AC1L1DXT
AC1Q4ZSU
AC1Q4ZSV
AKOS003235644
Amizepin
Amizepine
Apo-Carbamazepine
Atretol
BIDD:GT0479
BIM-0050280.0001
BPBio1_000225
BRD-K71799949-001-06-7
BRN 1246090
BSPBio_000203
BSPBio_001929
Bio-0751
Bipotrol
Biston
C 4024
C06868
C4024_SIAL
C4024_SIGMA
C8981_SIAL
CARBAMAZEPINE, U.S.P.
CAS-298-46-4
CBChromo1_000350
CBZ
CDS1_002710
CHEBI:3387
CHEMBL108
CID2554
CPD001227191
Calepsin
Carbamazepan
Carbamazepen
Carbamazepin
Carbamazepina
Carbamazepina [INN-Spanish]
Carbamazepine
Carbamazepine (JP15/USP/INN)
Carbamazepine ER
Carbamazepine [USAN:INN:BAN:JAN]
Carbamazepinum
Carbamazepinum [INN-Latin]
Carbamazépine
Carbamezepine
Carbatrol
Carbatrol extended-release
Carbazepin
Carbazepine
Carbelan
ChemDiv1_018966
D00252
DB00564
DivK1c_000388
DivK1c_003750
EINECS 206-062-7
EU-0100292
Epitol
Epitol, Equetro, Tegretol, Biston, Calepsin, Carbamazepine
Equetro
Equetro (TN)
Finlepsin
G 32883
G-32883
Geigy 32883
HMS1568K05
 
HMS1920I17
HMS2090M07
HMS2091O19
HMS501D10
HMS640O02
HSDB 3019
I06-0863
IDI1_000388
KBio1_000388
KBio2_000516
KBio2_003084
KBio2_005652
KBio3_001149
KBioGR_000724
KBioSS_000516
Karbamazepin
LS-60362
Lexin
Lopac-C-4024
Lopac0_000292
MLS000069652
MLS001055475
MLS001074172
Mazepine
MolPort-000-710-574
NCGC00015234-01
NCGC00015234-02
NCGC00015234-03
NCGC00015234-07
NCGC00015234-13
NCGC00023877-03
NCGC00023877-04
NCGC00023877-05
NCGC00023877-06
NCGC00023877-07
NCGC00023877-08
NINDS_000388
NSC 169864
NSC169864
Neurotol
Neurotop retard
Novo-Carbamaz
Nu-Carbamazepine
Oprea1_790775
Prestwick0_000052
Prestwick1_000052
Prestwick2_000052
Prestwick3_000052
Prestwick_104
S1693_Selleck
SAM002264603
SMR000058201
SMR001227191
SPBio_000170
SPBio_002124
SPD-417
SPECTRUM1500159
STK177357
Sirtal
Spectrum2_000125
Spectrum3_000325
Spectrum4_000262
Spectrum5_000936
Spectrum_000096
Stazepin
Stazepine
Taro-Carbamazepine
Taro-Carbamazepine Cr
Tegretal
Tegretol
Tegretol (TN)
Tegretol Chewtabs
Tegretol Cr
Tegretol XR
Tegretol-Xr
Telesmin
Teril
Timonil
Trimonil
UNII-33CM23913M
WLN: T C676 BNJ BVZ
ZINC00004785
benzo[b][1]benzazepine-11-carboxamide
carbamazepine
carbamazepine (Tegretol)
nchem.859-comp7
6
Pyridoxineapproved, nutraceuticalPhase 215265-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
Hexavibex
 
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
7
Pyridoxalapproved, nutraceuticalPhase 215065-22-5, 66-72-81050
Synonyms:
3-HYDROXY-5-(hydroxymethyl)-2-methylisonicotinaldehyde
 
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Pyridoxal
Pyridoxaldehyde
8Adrenocorticotropic HormonePhase 2121
9Vitamin B 6Phase 2158
10Endorphins47
11beta-endorphin89

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Focal Seizures in Tuberous Sclerosis Complex.Not yet recruitingNCT02544763Phase 3
2An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Focal Seizures in Tuberous Sclerosis Complex.Not yet recruitingNCT02544750Phase 3
3Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard TreatmentCompletedNCT00004758Phase 2
4Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH)RecruitingNCT01367964

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 2

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

About this section

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 222 CDKL5
2 Early Infantile Epileptic Encephalopathy 224

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

About this section

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

33
Eye

Animal Models for Epileptic Encephalopathy, Early Infantile, 2 or affiliated genes

About this section

Publications for Epileptic Encephalopathy, Early Infantile, 2

About this section

Variations for Epileptic Encephalopathy, Early Infantile, 2

About this section

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1CDKL5p.Cys152PheVAR_023560
2CDKL5p.Arg175SerVAR_023561
3CDKL5p.Pro180LeuVAR_037635
4CDKL5p.Ala40ValVAR_058022
5CDKL5p.Ile72AsnVAR_058023
6CDKL5p.Ile72ThrVAR_058024
7CDKL5p.His127ArgVAR_058025
8CDKL5p.Arg178ProVAR_058026
9CDKL5p.Leu220ProVAR_058027
10CDKL5p.Thr288IleVAR_058028
11CDKL5p.Cys291TyrVAR_058029
12CDKL5p.Asn399ThrVAR_058030
13CDKL5p.Val718MetVAR_058032
14CDKL5p.Arg178GlnVAR_071103

Clinvar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

5 (show all 111)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKL5CDKL5, 1-BP DEL, 183TdeletionPathogenic
2CDKL5CDKL5, IVSAS13, G-A, -1single nucleotide variantPathogenic
3CDKL5NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe)single nucleotide variantPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
4CDKL5NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser)single nucleotide variantPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
5CDKL5CDKL5, 4-BP DEL, 166GAAAdeletionPathogenic
6CDKL5CDKL5, 2-BP DEL, 2636CTdeletionPathogenic
7CDKL5NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter)single nucleotide variantPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
8CDKL5CDKL5, IVS6AS, G-T, -1single nucleotide variantPathogenic
9CDKL5NM_003159.2(CDKL5): c.119C> T (p.Ala40Val)single nucleotide variantPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
10CDKL5NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr)single nucleotide variantLikely pathogenic, Pathogenicrs62641235GRCh37Chr X, 18593543: 18593543
11CDKL5NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile)single nucleotide variantPathogenicrs267606713GRCh37Chr X, 18616619: 18616619
12CDKL5NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr)single nucleotide variantPathogenicrs267606714GRCh37Chr X, 18616628: 18616628
13CDKL5CDKL5, 2-BP INS, 903GAinsertionPathogenic
14CDKL5NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter)single nucleotide variantPathogenicrs267608561GRCh37Chr X, 18622083: 18622083
15CDKL5NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs)deletionPathogenicrs267608565GRCh37Chr X, 18622123: 18622123
16CDKL5NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs)duplicationPathogenicrs267608566GRCh37Chr X, 18622126: 18622126
17CDKL5NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter)single nucleotide variantPathogenicrs267608618GRCh37Chr X, 18622282: 18622282
18CDKL5NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg)single nucleotide variantPathogenicrs267608429GRCh37Chr X, 18582622: 18582622
19CDKL5NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs)deletionPathogenicrs267608433GRCh37Chr X, 18593491: 18593494
20CDKL5NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter)single nucleotide variantPathogenicrs267608643GRCh37Chr X, 18622692: 18622692
21CDKL5NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter)single nucleotide variantPathogenicrs267608395GRCh37Chr X, 18622719: 18622719
22CDKL5NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter)single nucleotide variantPathogenicrs62653623GRCh37Chr X, 18593503: 18593503
23CDKL5NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs)deletionPathogenicrs62643608GRCh37Chr X, 18593511: 18593511
24CDKL5NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro)single nucleotide variantLikely pathogenicrs267608435GRCh37Chr X, 18593519: 18593519
25CDKL5NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs267608647GRCh37Chr X, 18626940: 18626940
26CDKL5NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe)single nucleotide variantPathogenicrs267608437GRCh37Chr X, 18593527: 18593527
27CDKL5NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs)deletionPathogenicrs267608648GRCh37Chr X, 18627002: 18627002
28CDKL5NM_003159.2(CDKL5): c.2016dupC (p.Ser673Leufs)duplicationPathogenicrs267608649GRCh37Chr X, 18627002: 18627002
29CDKL5NM_003159.2(CDKL5): c.2066delC (p.Pro689Hisfs)deletionPathogenicrs267608651GRCh37Chr X, 18627604: 18627604
30CDKL5NM_003159.2(CDKL5): c.2152G> A (p.Val718Met)single nucleotide variantLikely pathogenic, Pathogenicrs267608653GRCh37Chr X, 18627690: 18627690
31CDKL5NM_003159.2(CDKL5): c.229_232delGAAG (p.Glu77Hisfs)deletionPathogenicrs267608441GRCh37Chr X, 18593557: 18593560
32CDKL5NM_003159.2(CDKL5): c.2325_2326delGA (p.Lys776Alafs)deletionPathogenicrs267608654GRCh37Chr X, 18638035: 18638036
33CDKL5NM_003159.2(CDKL5): c.2363_2367delAGAAA (p.Lys788Ilefs)deletionPathogenicrs267608655GRCh37Chr X, 18638073: 18638077
34CDKL5NM_003159.2(CDKL5): c.2413C> T (p.Gln805Ter)single nucleotide variantPathogenicrs267608659GRCh37Chr X, 18643284: 18643284
35CDKL5NM_003159.2(CDKL5): c.2504delC (p.Pro835Hisfs)deletionPathogenicrs267608660GRCh37Chr X, 18646498: 18646498
36CDKL5NM_003159.2(CDKL5): c.2529delA (p.Leu843Phefs)deletionPathogenicrs267608661GRCh37Chr X, 18646523: 18646523
37CDKL5NM_003159.2(CDKL5): c.2572delC (p.Arg858Alafs)deletionPathogenicrs267608662GRCh37Chr X, 18646566: 18646566
38CDKL5NM_003159.2(CDKL5): c.2593C> T (p.Gln865Ter)single nucleotide variantPathogenicrs267608663GRCh37Chr X, 18646587: 18646587
39CDKL5NM_003159.2(CDKL5): c.2635_2636delCT (p.Leu879Glufs)deletionPathogenicrs61753251GRCh38Chr X, 18628509: 18628510
40CDKL5NM_003159.2(CDKL5): c.39delT (p.Phe13Leufs)deletionPathogenicrs267608415GRCh37Chr X, 18525255: 18525255
41CDKL5NM_003159.2(CDKL5): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs267608472GRCh37Chr X, 18598085: 18598085
42CDKL5NM_003159.2(CDKL5): c.425T> A (p.Leu142Ter)single nucleotide variantPathogenicrs267608477GRCh37Chr X, 18600032: 18600032
43CDKL5NM_003159.2(CDKL5): c.513C> A (p.Tyr171Ter)single nucleotide variantPathogenicrs267608490GRCh37Chr X, 18602432: 18602432
44CDKL5NM_003159.2(CDKL5): c.532C> T (p.Arg178Trp)single nucleotide variantLikely pathogenic, Pathogenicrs267608493GRCh37Chr X, 18602451: 18602451
45CDKL5NM_003159.2(CDKL5): c.539C> T (p.Pro180Leu)single nucleotide variantPathogenicrs61749704GRCh37Chr X, 18602458: 18602458
46CDKL5NM_003159.2(CDKL5): c.549dupA (p.Leu184Thrfs)duplicationPathogenicrs267608497GRCh37Chr X, 18602468: 18602468
47CDKL5NM_003159.2(CDKL5): c.578A> G (p.Asp193Gly)single nucleotide variantPathogenicrs267608500GRCh37Chr X, 18606097: 18606097
48CDKL5NM_003159.2(CDKL5): c.587C> T (p.Ser196Leu)single nucleotide variantLikely pathogenic, Pathogenicrs267608501GRCh37Chr X, 18606106: 18606106
49CDKL5NM_003159.2(CDKL5): c.58G> C (p.Gly20Arg)single nucleotide variantLikely pathogenicrs267608418GRCh37Chr X, 18525274: 18525274
50CDKL5NM_003159.2(CDKL5): c.659T> C (p.Leu220Pro)single nucleotide variantPathogenicrs267608511GRCh37Chr X, 18606178: 18606178
51CDKL5NM_003159.2(CDKL5): c.65dupG (p.Ala23Serfs)duplicationPathogenicrs267608420GRCh37Chr X, 18528940: 18528940
52CDKL5NM_003159.2(CDKL5): c.680T> G (p.Leu227Arg)single nucleotide variantLikely pathogenicrs267608515GRCh37Chr X, 18606199: 18606199
53CDKL5NM_003159.2(CDKL5): c.801_802delTA (p.Asn267Lysfs)deletionPathogenicrs267608528GRCh37Chr X, 18613524: 18613525
54CDKL5NM_003159.2(CDKL5): c.855A> C (p.Arg285Ser)single nucleotide variantLikely pathogenicrs267608532GRCh37Chr X, 18616611: 18616611
55CDKL5NM_003159.2(CDKL5): c.867dupA (p.Gln290Thrfs)duplicationPathogenicrs267608537GRCh37Chr X, 18616623: 18616623
56CDKL5NM_003159.2(CDKL5): c.884delC (p.Pro295Leufs)deletionPathogenicrs267608542GRCh37Chr X, 18616640: 18616640
57CDKL5NM_003159.2(CDKL5): c.964dupA (p.Thr322Asnfs)duplicationPathogenicrs267608552GRCh37Chr X, 18616720: 18616720
58CDKL5NM_003159.2(CDKL5): c.100-2A> Gsingle nucleotide variantPathogenicrs267608423GRCh38Chr X, 18564475: 18564475
59CDKL5NM_003159.2(CDKL5): c.2376+1G> Asingle nucleotide variantPathogenicrs267608656GRCh38Chr X, 18619967: 18619967
60CDKL5NM_003159.2(CDKL5): c.2376+1G> Csingle nucleotide variantPathogenicrs267608656GRCh37Chr X, 18638087: 18638087
61CDKL5NM_003159.2(CDKL5): c.404-1G> Tsingle nucleotide variantPathogenicrs267608474GRCh37Chr X, 18600010: 18600010
62CDKL5NM_003159.2(CDKL5): c.464-2A> Gsingle nucleotide variantPathogenicrs267608480GRCh37Chr X, 18602381: 18602381
63CDKL5NM_003159.2(CDKL5): c.64+2delTdeletionPathogenicrs267608419GRCh38Chr X, 18507162: 18507162
64CDKL5NM_003159.2(CDKL5): c.978-2A> Gsingle nucleotide variantPathogenicrs267608553GRCh37Chr X, 18622020: 18622020
65CDKL5NM_003159.2(CDKL5): c.99+1G> Tsingle nucleotide variantPathogenicrs267608421GRCh38Chr X, 18510855: 18510855
66CDKL5NM_003159.2(CDKL5): c.99+5G> Asingle nucleotide variantPathogenicrs587783131GRCh38Chr X, 18510859: 18510859
67CDKL5NM_003159.2(CDKL5): c.2596C> T (p.Gln866Ter)single nucleotide variantPathogenicrs587783158GRCh37Chr X, 18646590: 18646590
68CDKL5NM_003159.2(CDKL5): c.1345_1346delGA (p.Glu449Lysfs)deletionPathogenicrs587783398GRCh37Chr X, 18622389: 18622390
69CDKL5NM_003159.2(CDKL5): c.146-1G> Asingle nucleotide variantPathogenicrs587783399GRCh37Chr X, 18593473: 18593473
70CDKL5NM_003159.2(CDKL5): c.1797dupC (p.Ser600Glnfs)duplicationPathogenicrs587783401GRCh37Chr X, 18622841: 18622841
71CDKL5NM_003159.2(CDKL5): c.526T> C (p.Trp176Arg)single nucleotide variantLikely pathogenicrs587783084GRCh37Chr X, 18602445: 18602445
72CDKL5NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter)single nucleotide variantPathogenicrs587783405GRCh37Chr X, 18606141: 18606141
73CDKL5NM_003159.2(CDKL5): c.62A> G (p.Glu21Gly)single nucleotide variantLikely pathogenic, Pathogenicrs587783406GRCh37Chr X, 18525278: 18525278
74CDKL5NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)single nucleotide variantPathogenicrs267606715GRCh37Chr X, 18602452: 18602452
75CDKL5NM_003159.2(CDKL5): c.-253_-163+?deldeletionLikely pathogenicGRCh37Chr X, 18443725: 18443815
76CDKL5NM_003159.2(CDKL5): c.473G> C (p.Arg158Pro)single nucleotide variantLikely pathogenicrs757402424GRCh38Chr X, 18584272: 18584272
77CDKL5NM_003159.2(CDKL5): c.100-?_145+?deldeletionPathogenic
78CDKL5NM_003159.2(CDKL5): c.1008_1029del22 (p.Ser337Argfs)deletionPathogenicrs786204964GRCh38Chr X, 18603932: 18603953
79NM_003159.2(CDKL5): c.146-?_*85deldeletionPathogenicGRCh37Chr X, 18593474: 18671749
80NM_003159.2(CDKL5): c.-162-?_*85deldeletionPathogenicGRCh37Chr X, 18525055: 18671749
81CDKL5NM_003159.2(CDKL5): c.-162-?_145+?deldeletionPathogenic
82CDKL5NM_003159.2(CDKL5): c.-162-?_64+?deldeletionPathogenic
83CDKL5NM_003159.2(CDKL5): c.-162-?_99+?deldeletionPathogenic
84CDKL5NM_003159.2(CDKL5): c.-162-2A> Gsingle nucleotide variantPathogenicrs786204973GRCh38Chr X, 18506933: 18506933
85CDKL5NM_003159.2(CDKL5): c.1784dupG (p.Leu596Thrfs)duplicationPathogenicrs786204974GRCh37Chr X, 18622828: 18622828
86CDKL5NM_003159.2(CDKL5): c.207_213delGGAAAAC (p.Glu70Leufs)deletionPathogenicrs786204977GRCh37Chr X, 18593535: 18593541
87CDKL5NM_003159.2(CDKL5): c.2105_2106delAC (p.His702Profs)deletionPathogenicrs786204978GRCh37Chr X, 18627643: 18627644
88CDKL5NM_003159.2(CDKL5): c.2277-2A> Gsingle nucleotide variantPathogenicrs786204979GRCh38Chr X, 18619865: 18619865
89NM_003159.2(CDKL5): c.2377-?_*85deldeletionPathogenicGRCh37Chr X, 18643248: 18671749
90CDKL5NM_003159.2(CDKL5): c.2494C> T (p.Gln832Ter)single nucleotide variantPathogenicrs17857094GRCh38Chr X, 18625245: 18625245
91NM_003159.2(CDKL5): c.2497-?_*85deldeletionPathogenicGRCh37Chr X, 18646491: 18671749
92CDKL5NM_003159.2(CDKL5): c.(?_-253)_(*85_?)deldeletionPathogenic
93CDKL5NM_003159.2(CDKL5): c.-253_2276+?deldeletionPathogenicGRCh37Chr X, 18443725: 18631395
94CDKL5NM_003159.2(CDKL5): c.-253_825+?deldeletionPathogenicGRCh37Chr X, 18443725: 18613548
95CDKL5NM_003159.2(CDKL5): c.-253_977+?del1230deletionPathogenicGRCh37Chr X, 18443725: 18616733
96CDKL5NM_003159.2(CDKL5): c.-253_99+?deldeletionPathogenicGRCh37Chr X, 18443725: 18528974
97CDKL5NM_003159.2(CDKL5): c.275_276insAA (p.Glu93Metfs)insertionPathogenicrs786204982GRCh37Chr X, 18593603: 18593604
98CDKL5NM_003159.2(CDKL5): c.283-3_290del11deletionPathogenicrs786204983GRCh38Chr X, 18579845: 18579855
99CDKL5NM_003159.2(CDKL5): c.404-1385_554+59deldeletionPathogenicGRCh37Chr X, 18598626: 18602532
100CDKL5NM_003159.2(CDKL5): c.404-1G> Asingle nucleotide variantPathogenicrs267608474GRCh38Chr X, 18581890: 18581890
101CDKL5NM_003159.2(CDKL5): c.458A> G (p.Asp153Gly)single nucleotide variantPathogenicrs786204985GRCh38Chr X, 18581945: 18581945
102CDKL5NM_003159.2(CDKL5): c.506_507delCA (p.Thr169Argfs)deletionPathogenicrs786204987GRCh37Chr X, 18602425: 18602426
103CDKL5NM_003159.2(CDKL5): c.526T> G (p.Trp176Gly)single nucleotide variantPathogenicrs587783084GRCh38Chr X, 18584325: 18584325
104CDKL5NM_003159.2(CDKL5): c.65-?_99+?deldeletionPathogenic
105CDKL5NM_003159.2(CDKL5): c.745-?_825+?deldeletionPathogenic
106CDKL5NM_003159.2(CDKL5): c.91A> G (p.Arg31Gly)single nucleotide variantPathogenicrs786204991GRCh37Chr X, 18528966: 18528966
107CDKL5NM_003159.2(CDKL5): c.1891_1916del26 (p.Ile631Glnfs)deletionPathogenicrs794727063GRCh37Chr X, 18622935: 18622960
108CDKL5NM_003159.2(CDKL5): c.1152C> G (p.Tyr384Ter)single nucleotide variantPathogenicrs794727064GRCh37Chr X, 18622196: 18622196
109CDKL5NM_003159.2(CDKL5): c.2713+3C> Tsingle nucleotide variantPathogenicGRCh38Chr X, 18628590: 18628590
110CDKL5NM_003159.2(CDKL5): c.353A> G (p.Gln118Arg)single nucleotide variantPathogenicGRCh38Chr X, 18579918: 18579918
111CDKL5NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln)single nucleotide variantLikely pathogenic, Pathogenicrs267606715GRCh37Chr X, 18602452: 18602452

Expression for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

About this section
Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 2.

Pathways for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

About this section

GO Terms for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

About this section

Biological processes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00017649.1ARX, CDKL5

Sources for Epileptic Encephalopathy, Early Infantile, 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet