IMAGE
MCID: INT324
MIFTS: 58

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGE)

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

Aliases & Classifications for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

MalaCards integrated aliases for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

Name: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 57 72 29 6 70
Image Syndrome 57 12 25 20 43 58 72 36 13 15
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 20 58
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 43 29
Image 57 72
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 12
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies 25
Pyle Metaphyseal Dysplasia 70
Fetal Growth Retardation 70
Image Association 43
Image Anomaly 43

Characteristics:

Orphanet epidemiological data:

58
image syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050885
OMIM® 57 614732
KEGG 36 H02319
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 71 C1846009
Orphanet 58 ORPHA85173
MedGen 41 C1846009
UMLS 70 C0015934 C0265294 C1846009

Summaries for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

MedlinePlus Genetics : 43 The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body.Most affected individuals grow slowly before birth (intrauterine growth restriction) and are small in infancy. They have skeletal abnormalities that often become apparent in early childhood, although these abnormalities are usually mild and can be difficult to recognize on x-rays. The most common bone changes are metaphyseal dysplasia and epiphyseal dysplasia; these are malformations of the ends of long bones in the arms and legs. Some affected individuals also have an abnormal side-to-side curvature of the spine (scoliosis) or thinning of the bones (osteoporosis).Adrenal hypoplasia congenita is the most severe feature of IMAGe syndrome. The adrenal glands are a pair of small glands on top of each kidney. They produce a variety of hormones that regulate many essential functions in the body. Underdevelopment (hypoplasia) of these glands prevents them from producing enough hormones, a condition known as adrenal insufficiency. The signs of adrenal insufficiency begin shortly after birth and include vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications can be life-threatening.The genital abnormalities associated with IMAGe syndrome occur only in affected males. They include an unusually small penis (micropenis), undescended testes (cryptorchidism), and the opening of the urethra on the underside of the penis (hypospadias).Several additional signs and symptoms have been reported in people with IMAGe syndrome. Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge. Less commonly, people with this condition have premature fusion of certain bones of the skull (craniosynostosis), a split in the soft flap of tissue that hangs from the back of the mouth (cleft or bifid uvula), a high-arched roof of the mouth (palate), and a small chin (micrognathia). Other possible features of IMAGe syndrome include high levels of calcium in the blood (hypercalcemia) or urine (hypercalcuria) and a shortage of growth hormone in childhood that results in short stature.

MalaCards based summary : Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, also known as image syndrome, is related to metaphyseal dysplasia and glycerol kinase deficiency. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Thrombin and Epirubicin have been mentioned in the context of this disorder. Affiliated tissues include prostate, liver and breast, and related phenotypes are frontal bossing and depressed nasal bridge

Disease Ontology : 12 A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has material basis in heterozygous mutation in the CDKN1C gene.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85173 Definition IMAGe syndrome is characterized by the association of I ntrauterine growth retardation, M etaphyseal dysplasia (and short limbs), A drenal hypoplasia congenita, and Ge nital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

OMIM® : 57 IMAGE is a rare multisystem disorder 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 steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by Balasubramanian et al., 2010). (614732) (Updated 05-Apr-2021)

KEGG : 36 IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.

UniProtKB/Swiss-Prot : 72 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.

GeneReviews: NBK190103

Related Diseases for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Diseases related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2640)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 31.0 POLE NR0B1 GK CDKN1C
2 glycerol kinase deficiency 31.0 NR5A1 NR0B1 GK
3 adrenal hypoplasia, congenital 30.9 SAMD9 NR5A1 NR0B1 MC2R GK CDKN1C
4 cryptorchidism, unilateral or bilateral 30.1 NR5A1 NR0B1 MKRN3 CYP11A1
5 adrenal adenoma 29.7 MC2R CYP11A1 CDKN1C
6 adrenal cortical carcinoma 29.5 NR5A1 NR0B1 MC2R CYP11A1 CDKN1C
7 wilms tumor 1 29.4 SLC22A18 NR5A1 NR0B1 KCNQ1OT1 CDKN1C
8 adrenal carcinoma 29.4 NR5A1 CYP11A1 CDKN1C
9 adrenal cortical adenoma 29.3 NR5A1 MC2R CYP11A1 CDKN1C
10 lipoid congenital adrenal hyperplasia 29.3 NR5A1 NR0B1 MC2R CYP11A1
11 disorder of sexual development 29.1 NR5A1 NR0B1 CYP11A1
12 pseudohermaphroditism 29.1 NR5A1 NR0B1 CYP11A1
13 46,xy sex reversal 2 29.0 NR5A1 NR0B1 MC2R CYP11A1
14 46,xy sex reversal 28.9 NR5A1 NR0B1 MC2R CYP11A1
15 beckwith-wiedemann syndrome 28.9 SLC22A18 PHLDA2 MKRN3 KCNQ1OT1 CDKN1C
16 familial glucocorticoid deficiency 27.6 TXNRD2 SAMD9 NR5A1 NR0B1 NNT MCM4
17 laurin-sandrow syndrome 11.6
18 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.5
19 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.4
20 eating disorder 11.1
21 anorexia nervosa 11.1
22 retinal disease 11.1
23 heterotaxy 11.1
24 simultanagnosia 11.0
25 ego-dystonic sexual orientation 11.0
26 astigmatism 10.9
27 body dysmorphic disorder 10.9
28 autotopagnosia 10.9
29 dextrocardia 10.9
30 total anomalous pulmonary venous return 1 10.9
31 situs inversus 10.9
32 dextrocardia with situs inversus 10.9
33 primary ciliary dyskinesia 10.8
34 esotropia 10.8
35 duodenal atresia 10.8
36 aniseikonia 10.8
37 nephronophthisis 10.8
38 carpenter syndrome 1 10.8
39 hypogonadotropic hypogonadism 1 with or without anosmia 10.8
40 kartagener syndrome 10.8
41 visceral heterotaxy 10.8
42 eye accommodation disease 10.8
43 ametropic amblyopia 10.8
44 lens disease 10.8
45 binocular vision disease 10.8
46 visual pathway disease 10.8
47 isodicentric 15 10.8
48 congenitally corrected transposition of the great arteries 10.8
49 isolated levocardia 10.8
50 logopenic progressive aphasia 10.8

Graphical network of the top 20 diseases related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:



Diseases related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Symptoms & Phenotypes for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Human phenotypes related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
6 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
7 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
8 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
9 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
10 adrenal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000835
11 metaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100255
12 hypotonia 31 hallmark (90%) HP:0001252
13 macrocephaly 31 occasional (7.5%) HP:0000256
14 global developmental delay 31 occasional (7.5%) HP:0001263
15 muscular hypotonia 58 Very frequent (99-80%)
16 delayed skeletal maturation 31 HP:0002750
17 short nose 31 HP:0003196
18 prominent forehead 31 HP:0011220
19 epiphyseal dysplasia 31 HP:0002656
20 postnatal growth retardation 31 HP:0008897
21 micropenis 31 HP:0000054
22 hypercalciuria 31 HP:0002150
23 hypercalcemia 31 HP:0003072
24 abnormality of the genital system 58 Very frequent (99-80%)
25 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
short nose
flat nasal bridge

Skeletal:
epiphyseal dysplasia
metaphyseal dysplasia
delayed bone age

Growth:
intrauterine growth retardation
postnatal growth failure

Genitourinary External Genitalia Male:
micropenis
hypospadias

Endocrine Features:
growth hormone deficiency
adrenal hypoplasia, congenital
adrenal crisis in neonatal period

Genitourinary Internal Genitalia Female:
normal

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Face:
prominent forehead

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Laboratory Abnormalities:
hypercalciuria
hypercalcemia

Genitourinary External Genitalia Female:
normal

Neurologic Central Nervous System:
developmental delay (in some patients)

Genitourinary Kidneys:
renal calcification (in some patients)

Clinical features from OMIM®:

614732 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Drugs for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1087)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Epirubicin Approved Phase 4 56420-45-2 41867
3
Cefoperazone Approved, Investigational Phase 4 62893-19-0 44185
4
Meropenem Approved, Investigational Phase 4 119478-56-7, 96036-03-2 441130 64778
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Dronabinol Approved, Illicit Phase 4 1972-08-3 16078
7
Interferon beta-1b Approved Phase 4 145155-23-3
8
Fluvoxamine Approved, Investigational Phase 4 54739-18-3 5324346 3404
9
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
10
Milk thistle Approved, Experimental, Investigational Phase 4 65666-07-1
11
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
12
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
13
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
14
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
15
Nitric Oxide Approved Phase 4 10102-43-9 145068
16
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
17
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
18
Linagliptin Approved Phase 4 668270-12-0 10096344
19
Zoledronic Acid Approved Phase 4 118072-93-8 68740
20
Dipivefrin Approved Phase 4 52365-63-6 3105
21
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
22
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
23
Memantine Approved, Investigational Phase 4 19982-08-2 4054
24
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
25
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
26
Caffeine Approved Phase 4 58-08-2 2519
27
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
28
Colchicine Approved Phase 4 64-86-8 6167 2833
29
Febuxostat Approved Phase 4 144060-53-7 134018
30
Acetaminophen Approved Phase 4 103-90-2 1983
31
Ibuprofen Approved Phase 4 15687-27-1 3672
32
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
33
Hydroxychloroquine Approved Phase 4 118-42-3 3652
34
Ephedrine Approved Phase 4 299-42-3 9294
35
Phenylephrine Approved Phase 4 59-42-7 6041
36
Pseudoephedrine Approved Phase 4 90-82-4 7028
37
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
38
Donepezil Approved Phase 4 120014-06-4 3152
39
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
40
Remifentanil Approved Phase 4 132875-61-7 60815
41
Cycloserine Approved Phase 4 68-41-7 401 6234
42
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Phase 4 302-17-0 2707
43
Domperidone Approved, Investigational, Vet_approved Phase 4 57808-66-9 3151
44
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
45
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
46
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
47
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
48
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
49
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
50
Nefazodone Approved, Withdrawn Phase 4 83366-66-9 4449

Interventional clinical trials:

(show top 50) (show all 9883)
# Name Status NCT ID Phase Drugs
1 Improvement of Utero-Placental Perfusion and Fetal Growth in IUGR and PET by Administration of Sildenafil Citrate in Pregnancy Unknown status NCT00347867 Phase 4 Viagra administration in IUGR/PET pregnancies
2 Lexiscan(TM) Rb-82 Myocardial Perfusion Positron Emission Computed Tomography: A Comparison With Dipyridamole Unknown status NCT00808314 Phase 4 Rest/Dipyridamole Stress Rb-82 Myocardial Perfusion PET/CT;Rest/Lexiscan(TM) Stress Rb-82 Myocardial Perfusion PET
3 A Double Blind Randomized Controlled Trial to Compare Biannual Peripheral Magnetic Resonance Imaging, Radiography, and Standard of Care on Pharmacotherapeutic Escalation in Inflammatory Arthritis Unknown status NCT00808496 Phase 4
4 Escalade or Deseacalade Antibiotic Use in Severe Acute Pancreatitis Unknown status NCT01992198 Phase 4 cefoperazone + metronidazole;Somatostatin;Meropenem
5 Different Lugol's Solution Concentration for Image Quality of Early Esophageal Squamous Neoplasia in Chromoendoscopy With Iodine Staining Unknown status NCT03180970 Phase 4 1.2% Lugol's solution;1.0% Lugol's solution;0.8% Lugol's solution;0.6% Lugol's solution;0.4% Lugol's solution
6 The Effect of Zoledronic Acid to Bone Fusion and Bone Metabolism of Patients With Lumbar Degenerative Disease After Lumbar Interbody Fusion Unknown status NCT01310465 Phase 4 zoledronic acid;sodium chloride
7 Randomized Controlled Study of a Rapid "Rule Out" Strategy Using CT Coronary Angiogram Versus Traditional Care for Low- to Intermediate-Risk ED Patients With Potential Acute Coronary Syndromes Unknown status NCT00933400 Phase 4
8 Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients With Headache and Dizziness or Epilepsy and Clinical Indication for an Angiography by Magnetic Imaging Unknown status NCT00132223 Phase 4 Contrast agent
9 Prospective Randomized Trial On Radiation Dose Estimates Of CT Angiography In Patients Applying Iterative Image Reconstruction Techniques - The PROTECTION V Study - Unknown status NCT01453712 Phase 4
10 Understanding of Chest Pain in Microvascular Disease Proved by Cardiac Magnetic Resonance Image Unknown status NCT01769482 Phase 4 Udenafil;placebo
11 Inflammatory, Functional and Image Composite Measure to Define Asthma Control Unknown status NCT00597064 Phase 4 prednisone
12 Gadolinium Enhanced Dual-Energy Computed Tomography: A Feasibility Study to Assess Image Quality and Diagnostic Confidence Unknown status NCT02163005 Phase 4 Gadolinium
13 Prospective Multicenter Study of the Role of Positron Emission Mammography (PEM) in Pre-Surgical Planning for Breast Cancer Unknown status NCT00484614 Phase 4
14 Dissecting the Role of Distal Embolization of Athero-thrombotic Material in Primary PCI: the ThrombOticBurden and mIcrovAscularobStruction (TOBIAS) Study. Unknown status NCT01914055 Phase 4
15 Using Imaging to Assess Effects of THC on Brain Activity Unknown status NCT03655717 Phase 4 Dronabinol;Ethanol;Placebo Dronabinol;Placebo Ethanol
16 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
17 Phase IV, Rater-blinded, Randomized Study, Comparing 250 mg of Betaseron With 20 mg of Copaxone in Patients With the Relapsing-remitting(RR) or CIS Forms of ms Using 3 Tesla(3T) Magnetic Resonance Imaging (MRI) With Triple-dose Gadolinium Unknown status NCT00176592 Phase 4 Betaseron;Copaxone
18 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
19 Randomized, Double-blind, Placebo-controlled Study to Asses the Effect of Chondroitin Sulphate in Patients With Knee Osteoarthritis by Functional Magnetic Resonance Imaging Unknown status NCT01226615 Phase 4 Chondroitin sulphate (Condrosan®);Placebo
20 Evaluation of the Evolution of Imaging Markers of Cartilage Degradation in Patients With Knee Osteoarthritis Receiving DROGLICAN: a Pilot Study Unknown status NCT02821468 Phase 4 Droglican;Paracetamol or oral NSAIDs excluding COX2 inhibitors
21 Intra-nasal Dexmedetomidine for Children Undergoing MRI Imaging Unknown status NCT03806777 Phase 4 Dexmedetomidine
22 Magnetic Resonance Imaging Study of Cognitive-Behavior Therapy for Major Depressive Disorder Unknown status NCT01460212 Phase 4 SSRI antidepressants
23 Imaging of Inflammation in the Postischemic Myocardium: Effect of Anti-inflammatory Treatment With Colchicine Unknown status NCT02281305 Phase 4 Colchicine
24 A Randomized, Double-blind Study to Evaluate the Efficacy of Iguratimod Versus Placebo in Patients With Rheumatoid Arthritis on Magnetic Resonance Imaging (MRI) Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
25 Can New Imaging- and Bio-markers Improve the Assessment of Disease Activity and Progression and Predict Therapeutic Outcome in Spondyloarthritis Patients Receiving Adalimumab Unknown status NCT00477893 Phase 4 Adalimumab;Placebo
26 Ticagrelor Versus Clopidogrel in Myocardial Salvage in Patients With ST-elevation Myocardial Infarction (STEMI) Undergoing Primary Percutaneous Coronary Intervention: A Magnetic Resonance Imaging Study (TIGER Study) Unknown status NCT02792712 Phase 4 Ticagrelor;Clopidogrel
27 Dual Tracer Functional Imaging of Nonfunctional Pancreatic Neuroendocrine Tumors Using 68Ga-DOTA-NOC and 18F-FDG PET/CT Unknown status NCT02621541 Phase 4
28 Integrative Diagnosis of 18F-FLT Positron Emission Tomography and Magnetic Resonance Imaging to Evaluate the Suspicious Findings on Mammography and Breast Ultrasound: a Pilot Study Unknown status NCT01956890 Phase 4 PET
29 Association of the Amisulpride Treatment Response in Patients With Schizophrenia With the Findings of Brain Structural Magnetic Resonance Imaging Unknown status NCT02095938 Phase 4 amisulpride
30 Effect of Atorvastatin on Inflammatory Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4 Atorvastatin
31 Accuracy of Magnetic Resonance Imaging (MRI) in Predicting Aggressiveness of Early Breast Cancer According to Molecular Subtypes Identified by ER PR and HER-2 Status Unknown status NCT01597999 Phase 4
32 Carotid Plaque Composition by Magnetic Resonance Imaging During Lipid Lowering Therapy Unknown status NCT00715273 Phase 4 Atorvastatin;Niacin;Colesevelam;Placebo Niacin;Placebo Colesevelam
33 Intensive Statin Treatment in Acute Ischemic Stroke Patients With INtracranial Atherosclerosis - High-Resolution Magnetic Resonance Imaging Study (STAMINA-MRI Study) Unknown status NCT02458755 Phase 4 High-dose statin: Atorvastatin 40mg or Rosuvastatin 20mg
34 EvaluAtion of Predictive Value of Multisite Intracardiac EchoCardiography During Imaging of Structure and funCTION of Left Atrial Appendage in Comparison to Transesophageal Echocardiography Unknown status NCT01371279 Phase 4
35 Comparison of the Everolimus Eluting (XIENCE-V® or PROMUS® Stent) With the Biolimus A9 Eluting NOBORI® Stent in All-comers: a Randomized Open Label Study The COMPARE II Trial Imaging and Vasomotion Substudy Unknown status NCT01329237 Phase 4
36 Complex Imaging Assessment of Steatosis in Patients Under Treatment With Combination Silimarin, Phyllanthus Niruri and Choline Unknown status NCT02669641 Phase 4
37 Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist Unknown status NCT00668824 Phase 4 Vasovist
38 The Effect of Bevacizumab on Peripheral Retinal Changes as Imaged by Wide -Field Fluorescein Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
39 A Randomized Controlled Trial to Compare the Efficacy of Medicine Conservative Treatment and Surgical Treatment for Symptomatic Sacral Perineurial Cysts (Tarlov Cysts) and the Applied Value of Resting State Functional Magnetic Resonance Imaging (rfMRI). Unknown status NCT02595190 Phase 4 gabapentin + tramadol
40 A Randomized, the Second-generation Non-ionic Monomer Contrast Parallel Control, Multicenter Clinical Study to Evaluate the Imaging Diagnostic Quality and Fertility Promoting Effect of Ethiodized Poppyseed Oil in Hysterosalpingography of Infertile Patients. Unknown status NCT03370575 Phase 4 ethiodized poppyseed oil;the second-generation non-ionic monomer contrast
41 Liposomal Doxorubicin-Investigational Chemotherapy-Tissue Doppler Imaging Evaluation (LITE) Randomized Pilot Study Unknown status NCT00531973 Phase 4 liposomal doxorubicin;epirubicin
42 An Operator-Blinded Study of the Efficacy of ShuntCheck-Micro-Pumper, a Non-Invasive Diagnostic Procedure, in Detecting Ventricular Shunt Patency or Occlusion and in Predicting Clinical Outcome in Children and Adolescents Presenting to Emergency Departments and Neurosurgery Clinics Unknown status NCT01881711 Phase 4
43 Selective Lymph Node Dissection Using Fluorescent Dye in Node-positive Breast Cancer Unknown status NCT02781259 Phase 4 Indocyanine green
44 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Unknown status NCT02478346 Phase 4 Fluorescein Sodium
45 Personalized Medicine in HCV Infection: Cognitive Impairments and Brain Anomalies in Chronic Hepatitis C Infected Individuals. Characterization and Potential Reversibility With Direct Antiviral Agents. Unknown status NCT02745132 Phase 4
46 Prospective Evaluation of Heart Function by Echocardiographic Study, Pro-brain Natriuretic Peptide Type B and Troponin T in Patients With Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4 TNF blockers (infliximab, adalimumab, etanercept)
47 Phase Ⅳ Study of CARTO 3D Mapping System vs Conventional Method in AF & VT Unknown status NCT00959205 Phase 4
48 Microvascular Reperfusion Utilizing Sonothrombolysis in Acute Myocardial Infarction (MRUSMI TRIAL) Unknown status NCT02170103 Phase 4 Microbubbles
49 The Efficacy of Adalimumab and Conventional Antirheumatic Drugs in Alleviating Axial and Aortic Inflammation Detected in PET/CT in Patients With Axial Spondyloarthritis Unknown status NCT02634541 Phase 4 Adalimumab
50 A Multicenter, Double Blind, Factorial Design, Phase IV Trial to Compare the Efficacy and Safety of Cilostazol Long-term Treatment With Aspirin in Ischemic Stroke Patients With High Risk of Cerebral Hemorrhage for the Prevention of Cerebral Hemorrhage and Cardiovascular Events and to Compare the Preventive Effect of Probucol in the Same Patient Group With Non-drug User Group for the Prevention of Cardiovascular Events Unknown status NCT01013532 Phase 4 Cilostazol;Probucol;Aspirin;placebo of cilostazol;placebo of aspirin

Search NIH Clinical Center for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Genetic Tests for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Genetic tests related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

# Genetic test Affiliating Genes
1 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 29 CDKN1C
2 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 29

Anatomical Context for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

MalaCards organs/tissues related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

40
Prostate, Liver, Breast, Bone, Skin, Lymph Node, Brain

Publications for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Articles related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

(show all 48)
# Title Authors PMID Year
1
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 25 57 6 61
22634751 2012
2
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. 57 25 6
15769992 2005
3
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio. 6 25 61
25614875 2014
4
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. 25 6 61
25057881 2014
5
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. 6 25 61
24098681 2013
6
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. 25 61 57
21108398 2010
7
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. 61 25 57
10599684 1999
8
CDKN1C mutations: two sides of the same coin. 6 61
25262539 2014
9
Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. 61 25
25861374 2015
10
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. 25 61
24313804 2014
11
Anesthetic and dental management of a child with IMAGe syndrome. 61 25
25517553 2014
12
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. 61 25
24065356 2013
13
Radiological evolution in IMAGe association: a case report. 61 25
18627061 2008
14
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? 61 25
17702017 2007
15
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. 25 61
16835919 2006
16
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. 25 61
14760276 2004
17
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. 25
23719190 2013
18
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. 25
19760774 2010
19
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth. 25
17120039 2007
20
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. 25
16504561 2006
21
IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. 25
12065932 2002
22
Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism. 25
8677114 1996
23
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience 61
32938577 2021
24
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay. 61
33443097 2020
25
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. 61
33076988 2020
26
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
27
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. 61
31497289 2019
28
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. 61
31976094 2019
29
The 11p15.5 chromosomal region: When did the instability occur? 61
30396480 2018
30
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. 61
30503519 2018
31
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 61
29506479 2018
32
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 61
28450305 2017
33
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations. 61
28508599 2017
34
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. 61
26963625 2016
35
Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2. 61
26071365 2015
36
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? 61
25541901 2014
37
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature. 61
24617583 2014
38
IMAGe Syndrome 61
24624461 2014
39
[Clinically mild encephalitis/encephalopathy with a reversible splenial lesion of corpus callosum in a child and literature review]. 61
24824394 2014
40
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. 61
25096886 2014
41
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. 61
25258553 2014
42
An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease. 61
22839767 2012
43
Presentation of primary adrenal insufficiency in childhood. 61
21470994 2011
44
[Clinical polymorphism of congenital X-linked adrenal hypoplasia]. 61
31569895 2009
45
Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management. 61
15469526 2004
46
[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases]. 61
12736593 2003
47
Growth abnormalities associated with adrenal disorders and their management. 61
11786680 2001
48
"The battered image syndrome"--we can overcome it. 61
2314309 1990

Variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

ClinVar genetic disease variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKN1C NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) SNV Pathogenic 35528 rs387907223 GRCh37: 11:2905359-2905359
GRCh38: 11:2884129-2884129
2 CDKN1C NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) SNV Pathogenic 35529 rs387907224 GRCh37: 11:2905358-2905358
GRCh38: 11:2884128-2884128
3 CDKN1C NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) SNV Pathogenic 35530 rs318240750 GRCh37: 11:2905349-2905349
GRCh38: 11:2884119-2884119
4 CDKN1C NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) SNV Pathogenic 35532 rs387907226 GRCh37: 11:2905353-2905353
GRCh38: 11:2884123-2884123
5 CDKN1C NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) SNV Pathogenic 132130 rs515726203 GRCh37: 11:2905905-2905905
GRCh38: 11:2884675-2884675
6 CDKN1C NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) SNV Pathogenic 254171 rs886037912 GRCh37: 11:2905343-2905343
GRCh38: 11:2884113-2884113
7 CDKN1C NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) SNV Pathogenic 192361 rs318240750 GRCh37: 11:2905349-2905349
GRCh38: 11:2884119-2884119
8 CDKN1C NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) SNV Pathogenic 35531 rs387907225 GRCh37: 11:2905900-2905900
GRCh38: 11:2884670-2884670
9 CDKN1C NM_001122630.2(CDKN1C):c.787+2T>A SNV Likely pathogenic 989317 GRCh37: 11:2905898-2905898
GRCh38: 11:2884668-2884668
10 CDKN1C NM_001122630.2(CDKN1C):c.-132G>A SNV Uncertain significance 236947 rs147317732 GRCh37: 11:2906985-2906985
GRCh38: 11:2885755-2885755
11 CDKN1C NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) SNV Uncertain significance 454037 rs776541692 GRCh37: 11:2905337-2905337
GRCh38: 11:2884107-2884107
12 CDKN1C NM_001122630.2(CDKN1C):c.-11+61G>A SNV Uncertain significance 236948 rs188494894 GRCh37: 11:2906803-2906803
GRCh38: 11:2885573-2885573
13 CDKN1C NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) SNV Benign 404254 rs771731330 GRCh37: 11:2906367-2906367
GRCh38: 11:2885137-2885137

UniProtKB/Swiss-Prot genetic disease variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 CDKN1C p.Asp274Asn VAR_068848 rs387907225
2 CDKN1C p.Phe276Ser VAR_068849 rs387907224
3 CDKN1C p.Phe276Val VAR_068850 rs387907223
4 CDKN1C p.Lys278Glu VAR_068851 rs387907226
5 CDKN1C p.Arg279Pro VAR_068852 rs318240750

Expression for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Search GEO for disease gene expression data for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies.

Pathways for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

GO Terms for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Cellular components related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CMG complex GO:0071162 8.62 MCM4 GINS1

Biological processes related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.5 POLE MCM4 GINS1
2 adrenal gland development GO:0030325 9.26 NR5A1 NR0B1
3 DNA strand elongation involved in DNA replication GO:0006271 9.16 MCM4 GINS1
4 male sex determination GO:0030238 8.96 NR5A1 NR0B1
5 sex determination GO:0007530 8.62 NR5A1 NR0B1

Sources for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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