MCID: HYP458
MIFTS: 41

Hyper Ige Syndrome malady

Category: Rare diseases

Aliases & Classifications for Hyper Ige Syndrome

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Aliases & Descriptions for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 48 27
Hyper-Ige Recurrent Infection Syndrome 48
Hyperimmunoglobulin E Syndrome 48
 
Hyper-Ige Syndrome 50
Job Syndrome 68
Hies 48

Classifications:



Summaries for Hyper Ige Syndrome

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NIH Rare Diseases:48 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES. Last updated: 7/14/2015

MalaCards based summary: Hyper Ige Syndrome, also known as hyper-ige recurrent infection syndrome, is related to his bundle tachycardia and hyper-ige recurrent infection syndrome. An important gene associated with Hyper Ige Syndrome is PGM3 (Phosphoglucomutase 3), and among its related pathways are Jak/STAT Signaling Pathway Intracellular Regulation and Interleukin-11 Signaling Pathway. Affiliated tissues include skin, lung and t cells, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1his bundle tachycardia12.1
2hyper-ige recurrent infection syndrome12.0
3hyper-ige recurrent infection syndrome, autosomal recessive11.9
4immunodeficiency 3511.1
5cockayne syndrome10.5DOCK8, STAT3
6epidermolysis bullosa simplex10.5DOCK8, STAT3
7smooth muscle tumor10.3IFNG, STAT3
8baetz-greenwalt syndrome10.3IFNG, IGHE
9dermatitis10.2
10lymphoma10.1
11atopic dermatitis10.1
12hypoparathyroidism, x-linked10.0IGHE, IL4
13hematopoietic stem cell transplantation10.0
14myoclonus epilepsy10.0IFNG, IL4
15eye accommodation disease10.0IFNG, IL4
16motor peripheral neuropathy10.0IFNG, IL4
17nut allergy10.0IFNG, IL4
18thelaziasis10.0IFNG, IL4
19goat milk allergy10.0IFNG, IL4
20gonococcal synovitis10.0IFNG, IL4
21buruli ulcer10.0IFNG, IL4
22acute gonococcal salpingitis10.0IFNG, IL4
23lymphocytic colitis10.0IFNG, IL4
24cervix melanoma10.0IFNG, IL4
25primary orthostatic tremor10.0IFNG, IL4
26lipodermatosclerosis10.0IFNG, IL4
27meninges hemangiopericytoma10.0IFNG, IL4
28orbital lymphangioma10.0IFNG, IL4
29pneumonic tularemia9.9IFNG, IL4
30renal cell carcinoma 49.9IFNG, IL4
31scn8a encephalopathy9.9IFNG, IL4
32atrichia with papular lesions9.9IFNG, IL4
33multicentric castleman disease9.9IFNG, IL4
34malignant histiocytosis9.9IFNG, IL4
35oesophagostomiasis9.9IFNG, IL4
36bartonellosis9.9IFNG, IL4
37buphthalmos9.9IFNG, IL4
38cortical dysplasia, complex, with other brain malformations 49.9DOCK8, STAT3, TYK2
39binocular vision disease9.9IFNG, IL4
40pneumonia9.9
41molluscum contagiosum9.9
42aneurysm9.9
43tetanus neonatorum9.9IFNG, IL4
44chronic conjunctivitis9.9IFNG, IL4
45orbital periostitis9.9IFNG, IL4
46progressive relapsing multiple sclerosis9.9IFNG, IL4
47common cold9.9IFNG, IL4
48esophagus melanoma9.9IFNG, IL4
49sarcoid meningitis9.9IFNG, IL4
50bacteriuria9.9IFNG, IL4

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to hyper ige syndrome

Symptoms & Phenotypes for Hyper Ige Syndrome

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MGI Mouse Phenotypes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5IFNG, IL4, PGM3, STAT3
2MP:00053978.4DOCK8, IFNG, IL4, PGM3, STAT3, TYK2
3MP:00053878.3DOCK8, IFNG, IL4, PGM3, STAT3, TYK2

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 3, Phase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Posaconazoleapproved, investigational, vet_approvedPhase 353171228-49-2147912
Synonyms:
1-((1S,2S)-1-Ethyl-2-hydroxypropyl)-4-{4-[4-(4-{[(5S,3R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazolylmethyl)oxolan-3-yl]methoxy}phenyl)piperazinyl]phenyl}-1,2,4-triazolin-5-one
171228-49-2
177571-33-4
4-(p-(4-(p-(((3R,5R)-5-(2,4-Difluorophenyl)tetrahydro-5-(1H-1,2,4-triazol-1-ylmethyl)-3-furyl)methoxy)phenyl)-1-piperazinyl)phenyl)-1-((1S,2S)-1-ethyl-2-hydroxypropyl)-delta(sup 2)-1,2,4-triazolin-5-one
4-[4-[4-[4-[[(3R,5R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazol-1-ylmethyl)oxolan-3-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-2-[(2S,3S)-2-hydroxypentan-3-yl]-1,2,4-triazol-3-one
4-[4-[4-[4-[[(5R)-5-(2,4-difluorophenyl)-5-(1,2,4-triazol-1-ylmethyl)oxolan-3-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-2-[(2S,3S)-2-hydroxypentan-3-yl]-1,2,4-triazol-3-one
AC-1350
AC1L3W34
AC1LAHLQ
AKOS005145917
CHEBI:434337
CHEMBL1397
CHEMBL371938
CHEMBL371939
CID10532764
CID11520437
CID11542142
CID147912
CID468595
D02555
 
DB01263
HSDB 7421
LS-186118
LS-186988
LS-187630
MolPort-006-666-426
Noxafil
Noxafil (TN)
Noxafil, Posaconazole
Posaconazole
Posaconazole (USAN/INN)
Posaconazole SP
Posaconazole [USAN:INN:BAN]
Posaconazole in combination with MGCD290
S1257_Selleck
SCH-56592
SCH56592
Sch 56592
Spriafil
UNII-6TK1G07BHZ
X2N
posaconazole
3Steroid Synthesis InhibitorsPhase 31718
4Antifungal AgentsPhase 3, Phase 23615
5HormonesPhase 313979
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
7Hormone AntagonistsPhase 312778
8Anti-Infective AgentsPhase 3, Phase 221402
9Antiprotozoal AgentsPhase 3, Phase 21986
10Antiparasitic AgentsPhase 3, Phase 22127
11Cytochrome P-450 Enzyme InhibitorsPhase 33822
12
Amphotericin Bapproved, investigationalPhase 21181397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
CID1972
 
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b
13
RanitidineapprovedPhase 28066357-59-3, 66357-35-53001055
Synonyms:
(E)-1-N'-[2-[[5-(dimethylaminomethyl)furan-2-yl]methylsulfanyl]ethyl]-1-N-methyl-2-nitroethene-1,1-diamine
(E)-N-{2-[({5-[(dimethylamino)methyl]-2-furyl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine
(E)-N-{2-[({5-[(dimethylamino)methyl]furan-2-yl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine
66357-35-5
66357-59-3 (hydrochloride)
68109-63-7
AC-12712
AC1MHDJB
AC1Q1WQX
AR-1B4779
Achedos
Acidex
Alquen
Atural
Axoban
BIDD:GT0179
Biotidin
C13H22N4O3S
CAS-66357-59-3
CHEBI:8776
CHEMBL512
CID3001055
Coralen
Curan
D00422
DB00863
Duractin
EINECS 266-332-5
Ezopta
Fendibina
Gastrial
Gastridina
Gastrolav
Gastrosedol
HMS1921L07
HMS2092H15
HMS501F22
HSDB 3925
I09-0405
IDI1_000440
Istomar
KST-1B7387
Kuracid
L000504
LS-67645
Logast
Lopac-R-101
Lopac0_001073
Mauran
Melfax
Microtid
MolPort-003-666-370
N (2-(((5-((Dimethylamino)methyl)-2-furanyl)methyl)thio)ethyl)-N'-methyl-2-nitro-1,1-ethenediamine
N-(2-((5-((Dimethylamino)methyl)furfuryl)thio)ethyl)-N'-methyl-2-nitro-1,1-ethenediamine
NCGC00015876-01
NCGC00015876-02
NCGC00015876-08
NCGC00018108-01
NCGC00024387-02
NCGC00094913-01
NCGC00094913-02
NCGC00094913-03
NCGC00094913-04
NCGC00094913-05
Noctone
Nu-Ranit
 
Prestwick2_000201
Ptinolin
Quantor
Quicran
RAN
RND
Radinat
Randin
Rani-Q
Rani-nerton
Raniben
Raniberl
Ranibloc
Ranidine
Ranifur
Ranin
Raniogas
Raniplex
Ranisen
Raniter
Ranitidin
Ranitidina
Ranitidina [INN-Spanish]
Ranitidine
Ranitidine (Form I And Form Ii)
Ranitidine (TN)
Ranitidine (USAN/INN)
Ranitidine Base
Ranitidine HCL
Ranitidine HCL 1/2 Type
Ranitidine [USAN:BAN:INN]
Ranitidinum
Ranitidinum [INN-Latin]
Ranitiget
Ranitin
Rantacid
Rantidine
Rantidine HCL
Ratic
Raticina
SPECTRUM1501151
ST050299
STK619092
Sampep
Sostril
Spectrum5_001189
Taural
Terposen
Tocris-1967
UNII-884KT10YB7
Ul-Pep
Ulceranin
Ulcex
Ultidine
Urantac
Verlost
Vesyca
Vizerul
Weichilin
Weidos
Xanidine
ZANTAC
Zantab
Zantac (TN)
Zantadin
Zantic
ranitidine
14
HistamineapprovedPhase 2103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
15
Histamine PhosphateapprovedPhase 2103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
16AntibodiesPhase 2, Phase 16045
17ImmunoglobulinsPhase 2, Phase 16045
18AgglutininsPhase 235
19Anti-Bacterial AgentsPhase 210884
20VaccinesPhase 26428
21AutoantibodiesPhase 2126
22Liposomal amphotericin BPhase 2118
23Histamine H2 AntagonistsPhase 2160
24Histamine AntagonistsPhase 2946
25Ranitidine bismuth citratePhase 280
26Neurotransmitter AgentsPhase 217734
27AntacidsPhase 21767
28Anti-Ulcer AgentsPhase 21767
29Gastrointestinal AgentsPhase 28109
30
BismuthPhase 21297440-69-916682734, 105143
Synonyms:
17034_FLUKA
24267-48-9
25243-76-9
264008_ALDRICH
265462_ALDRICH
265470_ALDRICH
452386_ALDRICH
556130_ALDRICH
7440-69-9
83Bi
95372_ALDRICH
95372_FLUKA
95375_FLUKA
AC1NSDYX
AC1O4PN8
AR-1I0647
BISMUTH, 99.95%
 
BISMUTH, 99.999%
Bi
Bismut
Bismuth standard for AAS
Bismuth standard for ICP
Bismuth(III) nitrate solution
Bismuth, elemental
Bismuth-209
C15471
CHEBI:33301
CID5359367
EINECS 231-177-4
HSDB 2078
LS-44708
LTBB002773
MolPort-003-925-759
Wismut
bismuth
bismuto
31Bismuth tripotassium dicitratePhase 267
32
Citric Acidnutraceutical, vet_approvedPhase 2110677-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
33CitrateNutraceuticalPhase 21106
34
Omalizumabapproved, investigationalPhase 1143242138-07-4
Synonyms:
242138-07-4
D05251
Ig gamma-1 chain C region
Omalizumab
 
Omalizumab (USAN/INN)
Omalizumab (genetical recombination)
Omalizumab (genetical recombination) (JAN)
Xolair
Xolair (TN)
35Respiratory System AgentsPhase 14818
36Anti-Allergic AgentsPhase 11490
37Anti-Asthmatic AgentsPhase 13369
38Pulmonary Surfactants107
39Coagulase11
40Yellow DockNutraceutical5

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Posaconazole to Treat Invasive Fungal InfectionsCompletedNCT00033982Phase 3
2Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE SyndromeRecruitingNCT02996448Phase 2
3CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2
4Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency DiseasesRecruitingNCT01852370Phase 1, Phase 2
5Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) SyndromeTerminatedNCT00527878Phase 2
6Omalizumab to Treat Hyper-IgE (Job's) SyndromeCompletedNCT00260702Phase 1
7Diagnostic Effectiveness of Virtual BronchoscopyCompletedNCT00001515Phase 1
8NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE SyndromeUnknown statusNCT02228941
9Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related DisordersCompletedNCT00005933
10Role of Endotracheal Suction on the Occurrence of Meconium Aspiration Syndrome in Non-vigorous Meconium Stained BabiesCompletedNCT01758822
11Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent InfectionRecruitingNCT00006150
12Study of Mycobacterial InfectionsRecruitingNCT00018044
13Human Immunity Against Staphylococcus Aureus Skin InfectionRecruitingNCT02262819
14Collection of Lung Fluid and Tissue Samples for ResearchRecruitingNCT00471250
15Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878
16Detection and Characterization of Infections and Infection SusceptibilityRecruitingNCT00404560
17Role and Molecular Mechanism of Farnesoid X Receptor(FXR) and RIPK3 in the Formation of Acute Respiratory Distress Syndrome in NeonatesRecruitingNCT02598648
18Genetic Analysis of Immune DisordersEnrolling by invitationNCT00001467

Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Hyper-Ige Syndrome27

Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

36
Skin, Lung, T cells, Bone, Bone marrow, B cells, Neutrophil

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50)    (show all 239)
idTitleAuthorsYear
1
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. (27778332)
2017
2
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. (27844301)
2017
3
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. (26659092)
2016
4
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. (27333819)
2016
5
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. (26743515)
2016
6
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. (27488252)
2016
7
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. (27474157)
2016
8
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. (26592211)
2016
9
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. (27423495)
2016
10
Liver abscess in a boy with hyper IgE syndrome. (27843873)
2016
11
Hyper-IgE Syndrome in an Infant. (26801049)
2016
12
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. (27091139)
2016
13
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. (27315770)
2016
14
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. (27799162)
2016
15
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. (27226025)
2016
16
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. (26304966)
2015
17
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. (26148752)
2015
18
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. (25796310)
2015
19
Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome). (25814298)
2015
20
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. (26687240)
2015
21
Caring for children with hyper-IgE syndrome. (26166283)
2015
22
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. (25962528)
2015
23
Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. (26293184)
2015
24
Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome. (26060590)
2015
25
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome. (26472314)
2015
26
An 8 minute colorimetric paper-based reverse phase vertical flow serum microarray for screening of hyper IgE syndrome. (26365343)
2015
27
Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome. (26453584)
2015
28
A case of exuberant candidal onychomycosis in a child with hyper IgE syndrome. (24565777)
2014
29
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. (25518794)
2014
30
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. (24197892)
2014
31
A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome. (24673638)
2014
32
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation. (24628715)
2014
33
Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. (24627079)
2014
34
Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. (25379309)
2014
35
Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India. (25543043)
2014
36
Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome. (24402620)
2014
37
A novel case of Hyper IgE syndrome combined with natural killer cell deficiency. (24571902)
2014
38
Hyper IgE syndrome. (24616862)
2014
39
Recurrent Meningitis in Hyper IgE Syndrome. (25371145)
2014
40
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy. (25388448)
2014
41
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
42
Renal abscess in hyper-IgE syndrome. (23374820)
2013
43
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. (23659370)
2013
44
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. (23623265)
2013
45
Psoriasis in hyper IgE syndrome - a case report. (24009971)
2013
46
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. (23584561)
2013
47
Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome. (22992060)
2013
48
Lung function in hyper IgE syndrome. (22492690)
2013
49
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
50
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013

Variations for Hyper Ige Syndrome

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Clinvar genetic disease variations for Hyper Ige Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PGM3NM_015599.2(PGM3): c.248T> C (p.Leu83Ser)SNVPathogenicrs267608260GRCh37Chr 6, 83898474: 83898474
2PGM3NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr)SNVPathogenicrs267608261GRCh37Chr 6, 83880059: 83880059
3PGM3NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del)deletionPathogenicrs267608259GRCh38Chr 6, 83178682: 83178684
4STAT3NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys)SNVLikely pathogenic, Pathogenicrs193922717GRCh37Chr 17, 40481466: 40481466

Expression for genes affiliated with Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for genes affiliated with Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathwaysScoreTop Affiliating Genes
19.5STAT3, TYK2
29.5STAT3, TYK2
39.5STAT3, TYK2
4
Show member pathways
9.5STAT3, TYK2
59.5STAT3, TYK2
6
Show member pathways
9.5STAT3, TYK2
79.5STAT3, TYK2
89.5STAT3, TYK2
99.4IFNG, STAT3
109.4IFNG, STAT3
119.3IFNG, IL4
129.3IFNG, IL4
139.3IFNG, IL4
149.3IFNG, IL4
159.1IGHE, IL4
16
Show member pathways
8.9IFNG, IL4, STAT3
178.9IFNG, STAT3, TYK2
18
Show member pathways
8.9IFNG, STAT3, TYK2
19
Show member pathways
8.9IFNG, STAT3, TYK2
208.9IFNG, STAT3, TYK2
21
Show member pathways
8.9IFNG, STAT3, TYK2
22
Show member pathways
8.8IFNG, IL4, TYK2
23
Show member pathways
8.5IFNG, IGHE, IL4
24
Show member pathways
8.4IFNG, IL4, STAT3, TYK2
25
Show member pathways
8.4IFNG, IL4, STAT3, TYK2
26
Show member pathways
8.4IFNG, IL4, STAT3, TYK2
27
Show member pathways
8.4IFNG, IL4, STAT3, TYK2
288.4IFNG, IL4, STAT3, TYK2

GO Terms for genes affiliated with Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.5IFNG, IGHE, IL4

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to cytokineGO:003409710.2IL4, STAT3
2defense response to protozoanGO:004283210.0IFNG, IL4
3positive regulation of chemokine biosynthetic processGO:004508010.0IFNG, IL4
4positive regulation of isotype switching to IgG isotypesGO:004830410.0IFNG, IL4
5positive regulation of MHC class II biosynthetic processGO:004534810.0IFNG, IL4
6positive regulation of T cell proliferationGO:004210210.0IFNG, IL4
7positive regulation of B cell activationGO:00508719.8IGHE, IL4
8response to drugGO:00424938.9IFNG, IL4, STAT3

Sources for Hyper Ige Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet