IMAGE
MCID: INT324
MIFTS: 58

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

Categories: Bone diseases, Ear 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 56 73 29 6 71
Image Syndrome 56 12 24 52 25 58 73 36 13 15
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 52 58
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 25 29
Image 56 73
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 12
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies 24
Pyle Metaphyseal Dysplasia 71
Fetal Growth Retardation 71
Image Association 25
Image Anomaly 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

24
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 56 614732
KEGG 36 H02319
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1846009
Orphanet 58 ORPHA85173
MedGen 41 C1846009
UMLS 71 C0015934 C0265294 C1846009

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

Genetics Home Reference : 25 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 46,xy sex reversal 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 Propofol and Cefoperazone have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and lung, and related phenotypes are depressed nasal bridge and muscular hypotonia

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.

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 : 73 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 5906)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 31.3 NR5A1 NR0B1 MC2R CYP11A1
2 glycerol kinase deficiency 31.1 NR5A1 NR0B1 GK
3 metaphyseal dysplasia 31.1 POLE NR0B1 GK CDKN1C
4 adrenal hypoplasia, congenital 30.8 SAMD9 NR5A1 NR0B1 MC2R GK
5 cryptorchidism, unilateral or bilateral 30.6 NR5A1 NR0B1 CYP11A1
6 wilms tumor 5 30.2 SLC22A18 CDKN1C
7 gestational trophoblastic neoplasm 30.2 PHLDA2 NR0B1 CDKN1C
8 hydatidiform mole, recurrent, 1 30.0 PHLDA2 CDKN1C
9 adrenal adenoma 29.9 MC2R CYP11A1 CDKN1C
10 adrenal cortical carcinoma 29.8 NR5A1 MC2R CYP11A1 CDKN1C
11 leydig cell tumor 29.6 NR5A1 NR0B1 CYP11A1
12 adrenal carcinoma 29.6 NR5A1 NR0B1 CYP11A1 CDKN1C
13 lipoid congenital adrenal hyperplasia 29.5 NR5A1 NR0B1 MC2R CYP11A1
14 hemihyperplasia, isolated 29.5 KCNQ1OT1 CDKN1C
15 wilms tumor 1 29.5 NR5A1 NR0B1 KCNQ1OT1 CDKN1C
16 adrenal cortical adenoma 29.4 NR5A1 MC2R CYP11A1 CDKN1C
17 alternating hemiplegia of childhood 29.3 NR5A1 NR0B1 GK
18 disorders of sexual development 29.3 NR5A1 NR0B1 CYP11A1
19 adrenal rest tumor 29.2 NR5A1 MC2R
20 persistent mullerian duct syndrome 29.0 NR5A1 NR0B1
21 adrenal gland disease 29.0 NR5A1 NR0B1 MC2R CYP11A1
22 premature ovarian failure 1 28.7 NR5A1 NR0B1 CYP11A1
23 46,xy sex reversal 2 28.7 NR5A1 NR0B1 MC2R CYP11A1
24 beckwith-wiedemann syndrome 28.5 SLC22A18 PHLDA2 MKRN3 KCNQ1OT1 CDKN1C
25 familial glucocorticoid deficiency 27.2 TXNRD2 NR5A1 NR0B1 NNT MCM4 MC2R
26 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.6
27 laurin-sandrow syndrome 12.3
28 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 12.0
29 total anomalous pulmonary venous return 1 11.6
30 autotopagnosia 11.5
31 retinal disease 11.3
32 aneurysm 11.3
33 heterotaxy 11.3
34 hydrocephalus 11.3
35 obsessive-compulsive disorder 11.3
36 acute disseminated encephalomyelitis 11.2
37 neuroblastoma 11.2
38 malignant fibrous histiocytoma 11.2
39 binswanger's disease 11.2
40 fatty liver disease 11.2
41 joubert syndrome 1 11.2
42 esophageal cancer 11.2
43 microphthalmia 11.2
44 anorexia nervosa 11.2
45 transient cerebral ischemia 11.2
46 subcortical arteriosclerotic encephalopathy 11.2
47 neuronal intranuclear inclusion disease 11.2
48 empty sella syndrome 11.2
49 dementia - subcortical 11.2
50 leukoencephalopathy with vanishing white matter 11.2

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

Symptoms via clinical synopsis from OMIM:

56
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

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 991)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Cefoperazone Approved, Investigational Phase 4 62893-19-0 44185
3
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 441130 64778
4
Alverine Approved, Investigational Phase 4 150-59-4 3678
5
Mebeverine Approved, Investigational Phase 4 3625-06-7 62887
6
Flunarizine Approved Phase 4 52468-60-7 941361
7
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523
8
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
9
Phylloquinone Approved, Investigational Phase 4 84-80-0
10
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
11
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
12
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
13
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
14
Sodium citrate Approved, Investigational Phase 4 68-04-2
15
Allopurinol Approved Phase 4 315-30-0 2094
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
18
Morphine Approved, Investigational Phase 4 57-27-2 5288826
19
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
20
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
21
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
22
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
23
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
24
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
25
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
26
Polyestradiol phosphate Approved Phase 4 28014-46-2
27
Ethanol Approved Phase 4 64-17-5 702
28
Ranibizumab Approved Phase 4 347396-82-1 459903
29
Fluorouracil Approved Phase 4 51-21-8 3385
30
Dronabinol Approved, Illicit Phase 4 1972-08-3 16078
31
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
32
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
33
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
34
Dipivefrin Approved Phase 4 52365-63-6 3105
35
Citalopram Approved Phase 4 59729-33-8 2771
36
Simvastatin Approved Phase 4 79902-63-9 54454
37
Donepezil Approved Phase 4 120014-06-4 3152
38
Ezetimibe Approved Phase 4 163222-33-1 150311
39
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
40
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
41
Didanosine Approved Phase 4 69655-05-6 50599
42
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
43
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
44
Zidovudine Approved Phase 4 30516-87-1 35370
45
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
46
Simethicone Approved Phase 4 8050-81-5
47
Glyburide Approved Phase 4 10238-21-8 3488
48
Acetaminophen Approved Phase 4 103-90-2 1983
49
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
50
Everolimus Approved Phase 4 159351-69-6 70789204 6442177

Interventional clinical trials:

(show top 50) (show all 6056)
# 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 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
3 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
4 Prospective Randomized Trial On RadiaTion Dose Estimates Of CT AngIOgraphy In PatieNts Scanned With A Sequential Scan Protocol Unknown status NCT00612092 Phase 4
5 Prospective Randomized Trial On RadiaTion Dose Estimates Of CT AngIOgraphy In PatieNts Scanned With A 100kV Protocol Unknown status NCT00611780 Phase 4
6 Split-dose Versus Single-dose Polyethylene Glycol Regimen for Capsule Endoscopy Is Timing of Preparation for Capsule Endoscopy the Key for the Best Small-bowel Cleansing? Unknown status NCT02396017 Phase 4 Polyethylene Glycol
7 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
8 Phase Ⅳ Study of CARTO 3D Mapping System vs Conventional Method in AF & VT Unknown status NCT00959205 Phase 4
9 Cardiac MRI After Replacement of Long Term Implanted PACEmakers by a MRI Conditional Pulse Generator (MRI-rePace) Unknown status NCT02195024 Phase 4
10 Improving Cone-beam Computed Tomography for Image Guided Stereotactic Body Radiation Therapy of the Liver Using Gadoxetate Disodium Unknown status NCT03215355 Phase 4 Primovist
11 Escalade or Deseacalade Antibiotic Use in Severe Acute Pancreatitis Unknown status NCT01992198 Phase 4 cefoperazone + metronidazole;Somatostatin;Meropenem
12 An Open, Contrast-Enhanced Magnetic Resonance Angiography (CE-MRA) Study of Arteries Using Gadovist 1.0 in Comparison to Intra-Arterial Digital Subtraction Angiography (IA DSA) Using Ultravist Unknown status NCT00154648 Phase 4
13 Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist Unknown status NCT00668824 Phase 4 Vasovist
14 Abdominal Midline Incisional Hernia Repair and Functional Outcome: Randomized Controlled Trial to Compare Open and Laparoscopic Surgical Unknown status NCT00625053 Phase 4
15 A Prospective Randomized Feasibility Trial Comparing Angiography and Angiography With IVUS for Treatment of Hemodialysis Access Failures Unknown status NCT02056704 Phase 4
16 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
17 Mebeverine For Daytime And Nocturnal Incontinence and After Orthotopic W-Ileal Neobladders - Assessment Of Efficacy And Quality Of Life Effect Within 1 Year Post-Surgery: A Randomized Cross-over Controlled Study Unknown status NCT03147599 Phase 4 Coloverin;Placebo
18 Gadolinium Enhanced Dual-Energy Computed Tomography: A Feasibility Study to Assess Image Quality and Diagnostic Confidence Unknown status NCT02163005 Phase 4 Gadolinium
19 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
20 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
21 Neurologic Signatures of Chronic Pain Disorders Unknown status NCT02747940 Phase 4 flunarizine and/or pregabalin
22 Understanding of Chest Pain in Microvascular Disease Proved by Cardiac Magnetic Resonance Image Unknown status NCT01769482 Phase 4 Udenafil;placebo
23 Inflammatory, Functional and Image Composite Measure to Define Asthma Control Unknown status NCT00597064 Phase 4 prednisone
24 The Protective Effect of the α2-agonist Dexmedetomidine on Mitochondrial Structure and Function for Children With Non-cyanotic Congenital Heart Defects Having Cardiac Surgery: A Randomized Controlled Trial. Unknown status NCT02299063 Phase 4 Dexmedetomidine;0.9% NaCl
25 Effectiveness Comparison Between the Use of Skin Micro-grafts vs Meshed Split Thickness Skin Grafts in Cutaneous Defects: A Randomized Controlled Clinical Trial Unknown status NCT02813213 Phase 4
26 Interstitial Fibrosis in Protocol Biopsies of Renal Allografts: A Prospective, Randomised Trial of Sirolimus Versus Cyclosporine.(Fibrasic) Unknown status NCT00493194 Phase 4 sirolimus;cyclosporine;daclizumab
27 Influence of Vitamin K2 Administration on Vessel Calcification Markers in Patients With Chronic Kidney Disease Unknown status NCT01101698 Phase 4 Vitamin K2+10μg cholecalciferol;Vitamin D
28 MRI With a Lymph Node Specific Contrast Agent: an Alternative for CT-Scanning and Lymph Node Dissection in Patients With Prostate Cancer? Unknown status NCT00185029 Phase 4
29 The Use of Lu177 in the Treatment of Progressive and Unresectable Metastatic Medullary Thyroid Cancer Unknown status NCT01915485 Phase 4
30 Effect of Fluticasone Proprionate 0.05% Cream on Narrow Band UV-B Phototherapy in Active Vitiligo: a Randomised Single Blinded Controlled Trial Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
31 Effect of N-Acetylcysteine on Autologous Fat Graft Survival Unknown status NCT02788292 Phase 4 Acetylcysteine
32 In Vivo Inhibition Profile of CYP2C9 by Pineapple Juice Unknown status NCT01649492 Phase 4
33 Prediction of Individual Treatment Response Based on Brain Changes at the Early Phase of Antidepressant Treatment in Major Depressive Disorder Using Machine Learning Classification Analysis Unknown status NCT02330679 Phase 4 Desvenlafaxine;Placebo
34 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
35 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
36 A Prospective, Multicenter, Randomized, Controlled Trial for Comparison of Drug-coated Balloon Versus Conventional Balloon Angioplasty in Venous Anastomotic Stenosis of Hemodialysis Graft Unknown status NCT02706444 Phase 4
37 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
38 Transforaminal Epidural Steroid Injection in Conjunction With Pulsed Radiofrequency Treatment of the Lumbar Dorsal Root Ganglion for the Management of Chronic Lumbosacral Radicular Pain: a Randomized, Double-blind Trial Unknown status NCT02930057 Phase 4 Celestone;Control
39 Randomized Comparative Study Between Single-injection , Intra- Cluster -Injection and Double-injection Ultrasound-guided Supraclavicular Block of Brachial Plexus Unknown status NCT03188939 Phase 4
40 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
41 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Macular Edema Post Treatment. Unknown status NCT00563628 Phase 4
42 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Electroretinograms and Contrast Sensitivity Post Treatment. Unknown status NCT00563043 Phase 4
43 Hippocampal Volume in Young Patients With Major Depression Before and After Combined Antidepressive Therapy - a Monocentric, Double-Blind, Placebo-Controlled Trial Unknown status NCT00150839 Phase 4 Mirtazapine;Venlafaxine
44 Recovery of Muscle Function After Deep Neuromuscular Block by Means of Dia-phragm Ultrasonography and Adductor Pollicis Acceleromyography: Comparison of Neostigmine vs. Sugammadex as Reversal Drugs. Unknown status NCT02698969 Phase 4 Sugammadex;Neostigmine;Atropine;Rocuronium;Fentanyl;Propofol;Sevoflurane
45 A Double-blind, Randomized, Controlled, Equivalence Study Comparing Intra-articular Corticosteroid to Intra-articular Ketorolac Knee Injections Unknown status NCT02612272 Phase 4 Ketorolac;Betamethasone
46 A Pilot Study of Maternally Administered Melatonin to Decrease the Level of Oxidative Stress in Human Pregnancies Affected by Intrauterine Growth Restriction. Completed NCT01695070 Phase 4 Melatonin
47 Growth Hormone Treatment of Children After Intrauterine Growth Retardation Completed NCT01697644 Phase 4 somatropin;somatropin
48 Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers Completed NCT01729468 Phase 4 Aspirin;Placebo
49 Can Treatment With Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight? Completed NCT01390051 Phase 4 Innohep (Tinzaparin);tinzaparin
50 Discontinued Administration (6 Months a Year) of Growth Hormone to Children With Very Short Stature and Having Suffered From Intrauterine Growth Retardation: Safety and Effect on Growth of Long-term Therapy Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin

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
Breast, Prostate, Lung, Brain, Liver, Bone, Testes

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

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

(show all 45)
# Title Authors PMID Year
1
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 24 56 6 61
22634751 2012
2
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. 24 6 56
15769992 2005
3
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. 61 56 24
21108398 2010
4
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. 61 24 56
10599684 1999
5
IMAGe Syndrome 6 61
24624461 2014
6
Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. 24 61
25861374 2015
7
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio. 24 61
25614875 2014
8
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. 24 61
25057881 2014
9
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. 61 24
24313804 2014
10
Anesthetic and dental management of a child with IMAGe syndrome. 61 24
25517553 2014
11
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. 61 24
24065356 2013
12
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. 24 61
24098681 2013
13
Radiological evolution in IMAGe association: a case report. 24 61
18627061 2008
14
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? 24 61
17702017 2007
15
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. 24 61
16835919 2006
16
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. 61 24
14760276 2004
17
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. 24
23719190 2013
18
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. 24
19760774 2010
19
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth. 24
17120039 2007
20
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. 24
16504561 2006
21
IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. 24
12065932 2002
22
Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism. 24
8677114 1996
23
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
24
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. 61
31497289 2019
25
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. 61
31976094 2019
26
The 11p15.5 chromosomal region: When did the instability occur? 61
30396480 2018
27
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. 61
30503519 2018
28
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 61
29506479 2018
29
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 61
28450305 2017
30
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations. 61
28508599 2017
31
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. 61
26963625 2016
32
Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2. 61
26071365 2015
33
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? 61
25541901 2014
34
CDKN1C mutations: two sides of the same coin. 61
25262539 2014
35
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature. 61
24617583 2014
36
[Clinically mild encephalitis/encephalopathy with a reversible splenial lesion of corpus callosum in a child and literature review]. 61
24824394 2014
37
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. 61
25096886 2014
38
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. 61
25258553 2014
39
An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease. 61
22839767 2012
40
Presentation of primary adrenal insufficiency in childhood. 61
21470994 2011
41
[Clinical polymorphism of congenital X-linked adrenal hypoplasia]. 61
31569895 2009
42
Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management. 61
15469526 2004
43
[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases]. 61
12736593 2003
44
Growth abnormalities associated with adrenal disorders and their management. 61
11786680 2001
45
"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 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKN1C NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)SNV Pathogenic 35528 rs387907223 11:2905359-2905359 11:2884129-2884129
2 CDKN1C NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser)SNV Pathogenic 35529 rs387907224 11:2905358-2905358 11:2884128-2884128
3 CDKN1C NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro)SNV Pathogenic 35530 rs318240750 11:2905349-2905349 11:2884119-2884119
4 CDKN1C NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)SNV Pathogenic 35531 rs387907225 11:2905900-2905900 11:2884670-2884670
5 CDKN1C NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu)SNV Pathogenic 35532 rs387907226 11:2905353-2905353 11:2884123-2884123
6 CDKN1C NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser)SNV Pathogenic 132130 rs515726203 11:2905905-2905905 11:2884675-2884675
7 CDKN1C NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)SNV Pathogenic 192361 rs318240750 11:2905349-2905349 11:2884119-2884119
8 CDKN1C NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile)SNV Pathogenic 254171 rs886037912 11:2905343-2905343 11:2884113-2884113
9 CDKN1C NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val)SNV Uncertain significance 454037 rs776541692 11:2905337-2905337 11:2884107-2884107
10 CDKN1C NM_001122630.2(CDKN1C):c.-132G>ASNV Uncertain significance 236947 rs147317732 11:2906985-2906985 11:2885755-2885755
11 CDKN1C NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu)SNV Benign/Likely benign 404254 rs771731330 11:2906367-2906367 11:2885137-2885137

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

73
# 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...

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 adrenal gland development GO:0030325 9.16 NR5A1 NR0B1
2 male sex determination GO:0030238 8.96 NR5A1 NR0B1
3 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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