IMAGE
MCID: IMG001
MIFTS: 50

Image Syndrome (IMAGE) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Image Syndrome

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Aliases & Descriptions for Image Syndrome:

Name: Image Syndrome 52 11 23 48 24 54 70 12 13
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 52 24 70 68
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 48 54 27
Intrauterine Growth Restriction 23 27
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 11
 
Adrenal Hypoplasia Congenita,genital Anomalies 23
Pyle Metaphyseal Dysplasia 68
Fetal Growth Retardation 68
Metaphyseal Dysplasia 23
Image 70

Characteristics:

Orphanet epidemiological data:

54
image syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
image syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: although few large pedigrees with image syndrome have been reported to date, it is clear that the mode of inheritance is autosomal dominant in which only maternal transmission of the imprinted pathogenic variant results in image syndrome [arboleda et al 2012]...


Classifications:



External Ids:

OMIM52 614732
Disease Ontology11 DOID:0050885
Orphanet54 ORPHA85173
ICD10 via Orphanet31 Q87.1
MedGen37 C1846009

Summaries for Image Syndrome

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UniProtKB/Swiss-Prot:70 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.

MalaCards based summary: Image Syndrome, also known as intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, is related to spondylo-megaepiphyseal-metaphyseal dysplasia and metaphyseal dysplasia, spahr type, and has symptoms including Array, Array and Array. An important gene associated with Image Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nuclear Receptor transcription pathway. Affiliated tissues include bone, and related mouse phenotype Increased cell death HMECs cells.

OMIM:52 IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia,... (614732) more...

Disease Ontology:11 A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has physical basis in heterozygous mutation in the CDKN1C gene.

GeneReviews for NBK190103

Related Diseases for Image Syndrome

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1spondylo-megaepiphyseal-metaphyseal dysplasia12.3
2metaphyseal dysplasia, spahr type12.3
3metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.2
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
5clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly12.1
6metaphyseal dysplasia without hypotrichosis12.1
7laurin-sandrow syndrome11.5
8intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.8
9toxic encephalopathy10.1CDKN1C, NR0B1
10pterygium, antecubital10.1CDKN1C, NR0B1
11tick infestation10.0CDKN1C, NR0B1
12microcephaly, seizures, and developmental delay10.0CDKN1C, PCNA
13familial multiple trichodiscomas10.0NNT, NR0B1
14cytomegalovirus retinitis10.0NR0B1, NR5A1
15abl1 kd-related altered drug metabolism10.0NR0B1, NR5A1
16duchenne muscular dystrophy10.0NR0B1, NR5A1
17autosomal dominant optic atrophy and late-onset deafness9.9NR0B1, NR5A1
18cardiomyopathy, dilated, 1v9.9NR0B1, NR5A1
19malignant otitis externa9.9NR0B1, NR5A1
20benign peritoneal mesothelioma9.9NNT, NR5A1
21salpingo-oophoritis9.9NR0B1, NR5A1
22farmer's lung9.9NR0B1, NR5A1
2346 xx gonadal dysgenesis9.8NR0B1, NR5A1
24epidural neoplasm9.8NR0B1, NR5A1
25loeffler endocarditis9.8NR0B1, NR5A1
26cerebral cavernous malformations-29.8CDKN1C, NR0B1, NR5A1
27deafness, autosomal dominant 79.7NR0B1, NR5A1
28centrotemporal epilepsy9.3CDKN1C, NNT, NR0B1, NR5A1, PCNA

Graphical network of the top 20 diseases related to Image Syndrome:



Diseases related to image syndrome

Symptoms & Phenotypes for Image Syndrome

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Symptoms by clinical synopsis from OMIM:

614732

Clinical features from OMIM:

614732

Human phenotypes related to Image Syndrome:

 54 64 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Very frequent (99-80%) HP:0000028
2 hypospadias64 54 Very frequent (99-80%) HP:0000047
3 abnormality of the genital system54 Very frequent (99-80%)
4 hydronephrosis64 54 Very frequent (99-80%) HP:0000126
5 hypogonadism64 54 Very frequent (99-80%) HP:0000135
6 low-set ears64 54 Very frequent (99-80%) HP:0000369
7 adrenal hypoplasia64 54 Very frequent (99-80%) HP:0000835
8 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
9 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
10 frontal bossing64 54 Very frequent (99-80%) HP:0002007
11 micromelia64 54 Very frequent (99-80%) HP:0002983
12 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
13 metaphyseal dysplasia64 54 Very frequent (99-80%) HP:0100255
14 micropenis64 HP:0000054
15 macrocephaly64 HP:0000256
16 growth hormone deficiency64 HP:0000824
17 global developmental delay64 HP:0001263
18 hypercalciuria64 HP:0002150
19 epiphyseal dysplasia64 HP:0002656
20 delayed skeletal maturation64 HP:0002750
21 hypercalcemia64 HP:0003072
22 short nose64 HP:0003196
23 postnatal growth retardation64 HP:0008897
24 prominent forehead64 HP:0011220

GenomeRNAi Phenotypes related to Image Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-08.5NR0B1, NR5A1, PCNA

Drugs & Therapeutics for Image Syndrome

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

(show top 50)    (show all 268)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 4, Phase 3383651-61-6, 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
2
Udenafilapproved, investigationalPhase 434268203-93-66918523
Synonyms:
3-(1-methyl-7-oxo-3-propyl-4H-pyrazolo[4,3-d]pyrimidin-5-yl)-N-[2-(1-methylpyrrolidin-2-yl)ethyl]-4-propoxybenzenesulfonamide
5-(2-Propyloxy-5-(1-methyl-2-pyrollidinylethylamidosulfonyl)phenyl)-1-methyl-3-propyl-1,6-dihydro-7H-pyrazolo(4,3-d)pyrimidine-7-one
AC1OCFJA
CID6918523
 
DA 8159
DA-8159
DB06267
I14-12963
Udenafil
Zydena
3
Lansoprazoleapproved, investigationalPhase 4, Phase 2218103577-45-33883
Synonyms:
103577-45-3
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)benzimidazole
2-(((3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)-1H-benzimidazole
2-({[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[({3-methyl-4-[(2,2,2-trifluoroethyl)oxy]pyridin-2-yl}methyl)sulfinyl]-1H-benzimidazole
2-[[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methylsulfinyl]-1H-benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl] methyl] sulfinyl] benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluroethoxy)-2-pyridyl]methyl]sulfinyl]benzimidazole
A 65006
A-65006
AB00052388
ABT-006
AC1L1GX8
AG 1749
AG-1749
Abbot Brand of Lansoprazole
Agopton
Almirall Brand of Lansoprazole
Amarin
Aprazol
BIDD:GT0006
BPBio1_001194
BRD-A49172652-001-05-7
BRN 4333393
BSPBio_001084
BSPBio_001830
Bamalite
Bio-0824
Biuret
Biuret Gr
Biuret Reagent
Biuret Reagent Solution
Blason
C058687
C16H14F3N3O2S
CAS-103577-45-3
CG-4801
CHEBI:6375
CHEMBL480
CID3883
CPD000058469
Compraz
D00355
DB00448
Dakar
DivK1c_000920
EU-0100709
FT-0082011
HMS1571G06
HMS1922M04
HMS2052F05
HMS2093M07
HMS502N22
HSDB 7204
Hoechst Brand of Lansoprazole
Hormona Brand of Lansoprazole
I06-0018
IDI1_000920
Ilsatec
KBio1_000920
KBio2_002060
KBio2_004628
KBio2_007196
KBio3_001330
KBioGR_001491
KBioSS_002060
Ketian
L 8533
L8533_SIGMA
LS-33080
Lancid
Lanfast
Lanproton
Lansopep
Lansophed
Lansoprazol
Lansoprazol [INN-Spanish]
Lansoprazole
Lansoprazole (JAN/USP/INN)
Lansoprazole [USAN:BAN:INN]
Lansoprazole [Usan:Ban:Inn]
Lansoprazolum
Lansoprazolum [INN-Latin]
Lansox
Lanston
 
Lanz
Lanzo
Lanzol
Lanzol-30
Lanzopral
Lanzor
Lanzul
Lapraz
Lasoprol
Lederle Brand of Lansoprazole
Limpidex
Linamarin
Lopac-L-8533
Lopac0_000709
MLS-0003247.0001
MLS000069705
MLS000759405
MLS001074170
Mesactol
MolPort-003-666-508
MolPort-006-394-760
Monolitum
NCGC00015615-01
NCGC00015615-02
NCGC00015615-03
NCGC00015615-06
NCGC00015615-11
NCGC00023826-03
NCGC00023826-04
NCGC00023826-05
NCGC00023826-06
NCGC00023826-07
NINDS_000920
Ogast
Ogastro
Opiren
Prestwick0_001072
Prestwick1_001072
Prestwick2_001072
Prestwick3_001072
PrevOnco
Prevacid
Prevacid (TN)
Prevacid I.V
Prevacid I.V.
Prevacid Iv
Prevacid SoluTab
Prevacid Solutab
Prevacid, Prevacid NapraPAC, Prevacid SoluTab, Lansoprazole
Prevpac
Prezal
Pro Ulco
Promeco
Promeco Brand of Lansoprazole
Promp
Prosogan
S1354_Selleck
SAM001246544
SMR000058469
SPBio_000488
SPBio_002992
SPECTRUM1503926
STK621169
Salvar Brand of Lansoprazole
Spectrum2_000444
Spectrum3_000295
Spectrum4_000856
Spectrum5_001521
Spectrum_001580
Suprecid
TAK 390MR
TAK-390MR
TAK390MR
TAP Brand of Lansoprazole
TL8000155
Takeda Brand of Lansoprazole
Takepron
Tecnobio Brand of Lansoprazole
UNII-0K5C5T2QPG
Ulpax
Vinas Brand of Lansoprazole
Wyeth Brand of Lansoprazole
Zoprol
Zoton
lansoprazole
lansoprazole sulphone
lanzoprazole
4
LoteprednolapprovedPhase 45382034-46-6, 129260-79-3444025, 9865442
Synonyms:
82034-46-6
AC1L9FKJ
AKOS005145741
Alrex
Alrex, Lotemax, Loteprednol etabonate
CDDD-5604
CHEBI:31784
CHEMBL1200865
CID444025
CPD000469178
D01689
DB00873
HGP-1
HMS2051F16
IDR-90102
IDR-90103
Locort
 
Loteflam
Lotemax
Lotemax (TN)
Loteprednol
Loteprednol Etabonate
Loteprednol etabonate
Loteprednol etabonate (JAN/USAN)
Loteprednolum
Loterox
MLS001424221
MolPort-003-848-424
NCGC00164594-01
P-5604
S1669_Selleck
SAM001246630
SMR000469178
ZINC03920673
chloromethyl (8S,9S,10R,11S,13S,14S,17R)-17-ethoxycarbonyloxy-11-hydroxy-10,13-dimethyl-3-oxo-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthrene-17-carboxylate
chloromethyl 17alpha-[(ethoxycarbonyl)oxy]-11beta-hydroxy-3-oxoandrosta-1,4-diene-17beta-carboxylate
5
Hydrocortisoneapproved, vet_approvedPhase 466750-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
6
Glycerolexperimental, approvedPhase 423856-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
7
NorepinephrineapprovedPhase 469951-41-2439260
Synonyms:
(-)-(R)-Norepinephrine
(-)-Arterenol
(-)-Arterenol free base
(-)-NORADRENALINE
(-)-Noradrenaline
(-)-Norepinephrine
(-)-alpha-(Aminomethyl)protocatechuyl alcohol
(R)-(-)-Norepinephrine
(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
(R)-Noradrenaline
(R)-Norepinephrine
1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)
4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol
4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol
4899-05-2
51-40-1 (l-tartrate (1:1))
51-41-2
66197-73-7
A7257_SIGMA
AC1L96ZT
ALBB-006229
Adrenor
Aktamin
Arterenol
BRN 4231961
BSPBio_002079
C00547
CHEBI:18357
CHEMBL1437
CID439260
D-(-)-Noradrenaline
D00076
D53D5E3A-2360-4CA9-8031-6C2CD4062FD5
DB00368
DivK1c_000230
EINECS 200-096-6
HMS1920B08
HMS2089E18
HMS2091J08
HMS500L12
IDI1_000230
KBio1_000230
KBio2_001489
KBio2_004057
KBio2_006625
KBio3_001579
KBioGR_000635
KBioSS_001489
L-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
L-3,4-Dihydroxyphenylethanolamine
L-3,4-dihydroxyphenylethanolamine
L-Arterenol
L-Noradrenaline
L-Norepinephrine
L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol
L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol
L-arterenol
L-noradrenaline
LS-42676
LT03330026
 
LT4
Levarterenol
Levarterenolo
Levarterenolo [DCIT]
Levoarterenol
Levonor
Levonoradrenaline
Levonorepinephrine
Levophed
NCGC00159406-02
NCGC00159406-03
NCGC00159406-04
NCGC00159406-05
NCGC00159406-06
NCGC00159406-07
NCGC00159406-09
NINDS_000230
Nor adrenalin
Nor adrenalin (TN)
Nor-Epirenan
Nor-adrenaline
Noradrenalin
Noradrenalina
Noradrenalina [Italian]
Noradrenaline
Noradrenaline (JP15)
Noradrenalinum
Norartrinal
Noreinefrina
Noreinefrina [INN-Spanish]
Norepinefrina
Norepinephrine
Norepinephrine (INN)
Norepinephrine Noradrenalin
Norepinephrine [INN:JAN]
Norepinephrine l-Tartrate (1:1)
Norepinephrinum
Norepinephrinum [INN-Latin]
Norepirenamine
PDSP1_001111
PDSP2_001095
SGCUT00123
SPBio_001048
SPECTRUM1500436
STK503776
Spectrum2_001064
Spectrum3_000520
Spectrum4_000078
Spectrum5_001068
Spectrum_001009
Sympathin E
UNII-X4W3ENH1CV
bmse000404
l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol
l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
nchembio.284-comp2
nchembio.64-comp2
nchembio705-1
noradrenaline
norepinefrina
norepinephrine
norepinephrinum
to_000024
8
RemifentanilapprovedPhase 4471132875-61-760815
Synonyms:
1-Piperidinepropanoic acid, 4-(methoxy-carbonyl)-4-((1-oxopropyl)phenylamino)-, methyl ester
132539-07-2 (mono-hydrochloride)
132875-61-7
3-(4-methoxycarbonyl-4-((1-oxopropyl)phenylamino)-1-piperidine)propanoic acid methyl ester
4-carboxy-4-(n-phenylpropionamido)-1-piperidinepropionic acid dimethyl ester
AC1L1TZ8
AC1Q5ZGR
BIDD:GT0029
C08021
CHEBI:8802
CHEMBL1005
CID60815
D08473
DB00899
 
DEA No. 9739
GI 87084B
GI 87084X
GI87084B
L001266
LS-115982
MolPort-004-286-006
REMIFENTANIL
Remifentanil (INN)
Remifentanil [INN:BAN]
Remifentanyl
UNII-P10582JYYK
Ultiva
Ultiva (TN)
methyl 1-(3-methoxy-3-oxopropyl)-4-(N-propanoylanilino)piperidine-4-carboxylate
9
Prednisoneapproved, vet_approvedPhase 4139853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
10Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 223689
11Antineoplastic Agents, HormonalPhase 4, Phase 25592
12Neurotransmitter AgentsPhase 4, Phase 318340
13Dopamine AgentsPhase 4, Phase 33836
14Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 213168
15HormonesPhase 4, Phase 214415
16Hormone AntagonistsPhase 4, Phase 213180
17
Proton pump inhibitorsPhase 4, Phase 21123
Synonyms:
 
PPIs
18Phosphodiesterase InhibitorsPhase 41289
19Gastrointestinal AgentsPhase 4, Phase 3, Phase 28402
20
DexlansoprazolePhase 4, Phase 2218138530-94-6, 103577-45-39578005
Synonyms:
138530-94-6
CHEMBL1201863
CID9578005
D08903
Dexlansoprazole (INN/USAN)
KS-1075
 
Kapidex
MolPort-002-885-834
T 168390
TAK 390
UNII-UYE4T5I70X
ZINC00599734
dexlansoprazole
21Phosphodiesterase 5 InhibitorsPhase 4589
22glucocorticoidsPhase 4, Phase 25103
23Anti-Inflammatory AgentsPhase 4, Phase 210729
24Pharmaceutical SolutionsPhase 4, Phase 28192
25Lubricant Eye DropsPhase 4168
26Ophthalmic SolutionsPhase 41140
27Psychotropic DrugsPhase 4, Phase 36430
28Neurotransmitter Uptake InhibitorsPhase 4, Phase 33521
29Corticotropin-Releasing HormonePhase 430
30Cortisol succinatePhase 4667
31Hydrocortisone 17-butyrate 21-propionatePhase 4667
32EstrogensPhase 4, Phase 22542
33Hydrocortisone acetatePhase 4667
34Anti-Allergic AgentsPhase 41522
35TetrahydrozolinePhase 4621
36
SerotoninPhase 4, Phase 3362750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
37Central Nervous System DepressantsPhase 4, Phase 313403
38Antidepressive AgentsPhase 4, Phase 32736
39AnestheticsPhase 4, Phase 39596
40Polyethylene glycol 3350Phase 496
41AnalgesicsPhase 411733
42Contraceptives, Oral, CombinedPhase 4636
43ProgestinsPhase 4564
44Contraceptives, OralPhase 41327
45Contraceptive AgentsPhase 41967
46Analgesics, OpioidPhase 43238
47Hypnotics and SedativesPhase 42616
48NarcoticsPhase 43646
49Anesthetics, IntravenousPhase 42538
50Serotonin and Noradrenaline Reuptake InhibitorsPhase 4457

Interventional clinical trials:

(show top 50)    (show all 236)
idNameStatusNCT IDPhase
1Understanding of Chest Pain in Microvascular Disease Proved by Cardiac Magnetic Resonance ImageUnknown statusNCT01769482Phase 4
2PROMAD: Predicting Therapeutic Outcome of Mandibular Advancement Device Treatment in Obstructive Sleep ApneaUnknown statusNCT01532050Phase 4
3Mode of Action of MoviprepCompletedNCT01622972Phase 4
4Single-dose Linaclotide for Capsule Endoscopy PreparationCompletedNCT02465385Phase 4
5Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose AbsorptionCompletedNCT01763281Phase 4
6The Utility of in Vivo Confocal Microscopy to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye DiseaseCompletedNCT02120079Phase 4
7Oral Contraceptive Therapy and SexualityRecruitingNCT02613039Phase 4
8Imaging Pain Relief in OsteoarthritisActive, not recruitingNCT02208778Phase 4
9Oral Prednisone Taper Versus Placebo for the Treatment of Acute Relapses in Multiple SclerosisTerminatedNCT01411514Phase 4
10Comparative Study of Epigastric Pain Syndrome and Postprandial Distress SyndromeWithdrawnNCT00673972Phase 4
11Bone Marrow Angiogenesis in Acute Myeloid Leukemia - Evaluated by Dynamic Contrast Enhanced Magnetic Resonance (MR) ImageUnknown statusNCT00172562Phase 3
12Bowel Preparation and Prokinetics in Capsule EndoscopyUnknown statusNCT00275184Phase 3
13Brain Imaging and Treatment Studies of the Night Eating SyndromeCompletedNCT01401595Phase 3
14Evaluate Early Glatiramer Acetate Treatment in Delaying Conversion to Clinically Definite Multiple Sclerosis of Subjects Presenting With Clinically Isolated SyndromeCompletedNCT00666224Phase 3
15A Study to Evaluate the Use and Safety of CARDIOLITE® in Pediatric Patients With Kawasaki DiseaseCompletedNCT00162032Phase 3
16Efficacy of Thoracic Paravertebral Block in the Reduction of Acute Post-surgical Pain in Patients With Breast CancerCompletedNCT02609321Phase 3
17Comparing the Safety, Effectiveness, and Tolerability of Three Anti-HIV Drug Regimens for Treatment-Naive PatientsCompletedNCT00050895Phase 3
18Efficacy of Cholecalciferol (Vitamin D3) for Delaying the Diagnosis of MS After a Clinically Isolated SyndromeRecruitingNCT01817166Phase 3
19Breast Cancer WEight Loss Study (BWEL Study)RecruitingNCT02750826Phase 3
20Oral Steroids for Regorafenib-induced Fatigue/Malaise in Unresectable mCRC (KSCC1402/HGCSG1402)Unknown statusNCT02288078Phase 2
21Intracerebral Gene Therapy for Sanfilippo Type A SyndromeCompletedNCT01474343Phase 1, Phase 2
22Study of 99mTc-glucarate to Detect Acute Coronary Syndrome in Chest Pain Patients.CompletedNCT00614354Phase 2
23Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.CompletedNCT00928304Phase 2
24Hormone Replacement Therapy to Treat Turner SyndromeCompletedNCT00013546Phase 2
25Safety and Efficacy Iodofiltic Acid I 123 in the Treatment of Acute Coronary SyndromeCompletedNCT00514501Phase 2
26Study of Individuals With Parkinson's Symptoms But in Whom There is Diagnostic UncertaintyCompletedNCT00129675Phase 2
27Development of Imaging, Clinical and Biochemical Bio-Markers for Parkinson's DiseaseCompletedNCT00315250Phase 2
2817AAG to Treat Kidney Tumors in Von Hippel-Lindau DiseaseCompletedNCT00088374Phase 2
29Art Therapy to Treat Women With FibromyalgiaCompletedNCT01586637Phase 2
30A Randomized Study of Iodine-131 Anti-b1 Antibody Versus Anti-b1 Antibody in Chemotherapy-relapsed/Refractory Low-grade or Transformed Low-grade Non-Hodgkin's Lymphoma (NHL)CompletedNCT01573000Phase 2
31A Trial to Determine Radiation Exposure to Organs and Assess the Safety of CARDIOLITE® in Pediatric SubjectsCompletedNCT00162045Phase 1, Phase 2
32Investigator Initiated Study of the Effects of Androgen Therapy on Carbohydrate and Lipid Metabolism In Elderly MenCompletedNCT00365794Phase 2
33Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine TumorsRecruitingNCT01967537Phase 2
34Cyclosporine Inhalation Solution (CIS) in Lung Transplant and Hematopoietic Stem Cell Transplant Recipients for the Treatment of Bronchiolitis ObliteransRecruitingNCT01287078Phase 2
35Prospective Study for Transplant Optimization Using Functional Imaging (TROFI)RecruitingNCT02488304Phase 2
36Pilot Study of Lupron to Improve Immune Function After Allogeneic Bone Marrow TransplantationActive, not recruitingNCT01338987Phase 2
37Busulfan, Etoposide, and Intensity-Modulated Radiation Therapy Followed By Donor Stem Cell Transplant in Treating Patients With Advanced Myeloid CancerActive, not recruitingNCT00540995Phase 1, Phase 2
38Study of Adrenalectomy Versus Observation for Subclinical HypercortisolismActive, not recruitingNCT02001051Phase 2
39Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
40Acupuncture for Primary Sjögren SyndromeNot yet recruitingNCT02691377Phase 2
41Study to Develop a Non-invasive Marker for Monitoring Myocardial FibrosisTerminatedNCT01230918Phase 2
42IVIG Treatment for Refractory Immune-Related Adult EpilepsyTerminatedNCT01545518Phase 2
43Pyrimethamine to Treat Autoimmune Lymphoproliferative SyndromeCompletedNCT00065390Phase 1
44Diagnostic Effectiveness of Virtual BronchoscopyCompletedNCT00001515Phase 1
45PET Study in Patients With Non-Hodgkin LymphomaCompletedNCT00712556Phase 1
46Evaluate the Use of Optical Frequency Domain Imaging (OFDI) for Celiac Disease in Children, Adolescents and Young AdultsCompletedNCT01439035Phase 1
47Thermal Imaging in Neonates: A Feasibility Study in Healthy Babies and Babies With Suspected TTNCompletedNCT02570828Phase 1
48Transcranial Magnetic Stimulation for Children With Tourette's SyndromeRecruitingNCT02356003Phase 1
49Imaging the Duodenum Using an Optical Frequency Domain Imaging OFDI CapsuleRecruitingNCT02202681Phase 1
50Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous DiseaseRecruitingNCT01851460Phase 1

Search NIH Clinical Center for Image Syndrome

Genetic Tests for Image Syndrome

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Genetic tests related to Image Syndrome:

id Genetic test Affiliating Genes
1 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies27
2 Intrauterine Growth Restriction27
3 Image Syndrome24 CDKN1C

Anatomical Context for Image Syndrome

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MalaCards organs/tissues related to Image Syndrome:

36
Bone

Publications for Image Syndrome

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Articles related to Image Syndrome:

idTitleAuthorsYear
1
Anesthetic and dental management of a child with IMAGe syndrome. (25517553)
2014
2
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? (25541901)
2014
3
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. (24098681)
2013
4
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. (24313804)
2013
5
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (22634751)
2012
6
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. (21108398)
2010
7
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. (16835919)
2006
8
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. (14760276)
2004
9
IMAGe Syndrome (24624461)
1993

Variations for Image Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Image Syndrome:

70
id Symbol AA change Variation ID SNP ID
1CDKN1Cp.Asp274AsnVAR_068848rs387907225
2CDKN1Cp.Phe276SerVAR_068849rs387907224
3CDKN1Cp.Phe276ValVAR_068850rs387907223
4CDKN1Cp.Lys278GluVAR_068851rs387907226
5CDKN1Cp.Arg279ProVAR_068852rs318240750

Clinvar genetic disease variations for Image Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1CNM_ 000076.2(CDKN1C): c.815T> G (p.Ile272Ser)SNVPathogenicrs515726203GRCh38Chr 11, 2884675: 2884675
2CDKN1CNM_ 000076.2(CDKN1C): c.836G> T (p.Arg279Leu)SNVPathogenicrs318240750GRCh38Chr 11, 2884119: 2884119
3CDKN1CNM_ 000076.2(CDKN1C): c.842G> T (p.Arg281Ile)SNVPathogenicrs886037912GRCh38Chr 11, 2884113: 2884113
4CDKN1CNM_ 000076.2(CDKN1C): c.826T> G (p.Phe276Val)SNVPathogenicrs387907223GRCh37Chr 11, 2905359: 2905359
5CDKN1CNM_ 000076.2(CDKN1C): c.827T> C (p.Phe276Ser)SNVPathogenicrs387907224GRCh37Chr 11, 2905358: 2905358
6CDKN1CNM_ 000076.2(CDKN1C): c.836G> C (p.Arg279Pro)SNVPathogenicrs318240750GRCh37Chr 11, 2905349: 2905349
7CDKN1CNM_ 000076.2(CDKN1C): c.820G> A (p.Asp274Asn)SNVPathogenicrs387907225GRCh37Chr 11, 2905900: 2905900
8CDKN1CNM_ 000076.2(CDKN1C): c.832A> G (p.Lys278Glu)SNVPathogenicrs387907226GRCh37Chr 11, 2905353: 2905353

Expression for genes affiliated with Image Syndrome

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Search GEO for disease gene expression data for Image Syndrome.

Pathways for genes affiliated with Image Syndrome

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Pathways related to Image Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4CDKN1C, PCNA
2
Show member pathways
9.1NR0B1, NR5A1

GO Terms for genes affiliated with Image Syndrome

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Biological processes related to Image Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular receptor signaling pathwayGO:00305229.8NR0B1, NR5A1
2male gonad developmentGO:00085849.7NR0B1, NR5A1
3sex determinationGO:00075309.7NR0B1, NR5A1
4steroid hormone mediated signaling pathwayGO:00434019.7NR0B1, NR5A1
5adrenal gland developmentGO:00303259.3CDKN1C, NR0B1, NR5A1
6transcription initiation from RNA polymerase II promoterGO:00063679.1NR0B1, NR5A1

Molecular functions related to Image Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.6NR0B1, NR5A1
2steroid hormone receptor activityGO:00037079.1NR0B1, NR5A1

Sources for Image Syndrome

About this section
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