IMAGE
MCID: INT324
MIFTS: 63

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

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases
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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 73 71
Image Syndrome 57 11 24 19 42 58 73 28 5 14
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 19 58
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 42 28
Image 57 73
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 11
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies 24
Pyle Metaphyseal Dysplasia 71
Fetal Growth Retardation 71
Image Association 42
Image Anomaly 42

Characteristics:


Inheritance:

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies: Autosomal dominant 57
Image Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Image Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Image Syndrome: Infancy,Neonatal 58

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 11 DOID:0050885
OMIM® 57 614732
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C1846009
Orphanet 58 ORPHA85173
MedGen 40 C1846009
UMLS 71 C0015934 C0265294 C1846009

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

MedlinePlus Genetics: 42 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 glycerol kinase deficiency and metaphyseal dysplasia. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Mitotic G1 phase and G1/S transition. The drugs Acetylsalicylic acid and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney, and related phenotypes are frontal bossing and hypotonia

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). A recessive form of IMAGE with immunodeficiency (IMAGEI; 618336) is caused by mutation in the POLE gene (174762) on chromosome 12q24. (614732) (Updated 08-Dec-2022)

GARD: 19 A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.

Orphanet: 58 A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

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 3134)
# Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 31.1 NR5A1 NR0B1 GK
2 metaphyseal dysplasia 30.9 SAMD9 RNU4ATAC POLE NR0B1 CDKN1C
3 hypoadrenocorticism, familial 30.7 NR5A1 NR0B1 MC2R GK CYP11A1
4 cryptorchidism, unilateral or bilateral 30.6 NR5A1 NR0B1 MKRN3 CYP11A1
5 adrenal hypoplasia, congenital 30.4 SAMD9 NR5A1 NR0B1 MC2R GK CYP11A1
6 hydatidiform mole, recurrent, 1 30.1 PHLDA2 CDKN1C
7 adrenal adenoma 30.0 MC2R CYP11A1 CDKN1C
8 wilms tumor 5 30.0 SLC22A18 CDKN1C
9 conn's syndrome 30.0 NR5A1 NR0B1 MC2R CYP11A1
10 wilms tumor 1 29.9 SLC22A18 NR5A1 NR0B1 DYNC1I2 CDKN1C
11 adrenal cortical carcinoma 29.8 NR5A1 NR0B1 MC2R CYP11A1 CDKN1C
12 lipoid congenital adrenal hyperplasia 29.7 NR5A1 NR0B1 MC2R CYP11A1
13 adrenal cortical adenoma 29.5 NR5A1 MC2R CYP11A1 CDKN1C
14 adrenal carcinoma 29.5 NR5A1 NR0B1 MC2R CYP11A1 CDKN1C
15 spastic paraplegia 17, autosomal dominant 29.5 TGM1 RNU4ATAC CDKN1C
16 achalasia-addisonianism-alacrima syndrome 29.5 TXNRD2 SAMD9 NR0B1 NNT MC2R CYP11A1
17 androgen insensitivity, partial 29.5 NR5A1 NR0B1
18 pseudohermaphroditism 29.3 NR5A1 NR0B1 CYP11A1
19 46,xy sex reversal 29.2 NR5A1 NR0B1 MC2R CYP11A1
20 disorder of sexual development 29.2 NR5A1 NR0B1 CYP11A1
21 46,xy sex reversal 2 29.2 NR5A1 NR0B1 MC2R CYP11A1
22 omphalocele 29.2 TGM1 DYNC1I2 CDKN1C
23 silver-russell syndrome 1 29.1 TGM1 SLC22A18 PHLDA2 DYNC1I2 CDKN1C
24 beckwith-wiedemann syndrome 29.0 TGM1 SLC22A18 PHLDA2 MKRN3 DYNC1I2 CDKN1C
25 kallmann syndrome 28.9 TGM1 NR5A1 NR0B1 MKRN3
26 premature menopause 28.8 NR5A1 NR0B1 MKRN3 CYP11A1
27 familial glucocorticoid deficiency 28.3 TXNRD2 SAMD9 NR5A1 NR0B1 NNT MCM4
28 laurin-sandrow syndrome 11.6
29 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.5
30 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.3
31 anorexia nervosa 11.2
32 eating disorder 11.2
33 visceral heterotaxy 11.1
34 dextrocardia with situs inversus 11.1
35 prostate cancer 11.1
36 simultanagnosia 11.0
37 ego-dystonic sexual orientation 11.0
38 preretinal fibrosis 11.0
39 astigmatism 11.0
40 body dysmorphic disorder 11.0
41 total anomalous pulmonary venous return 1 11.0
42 autotopagnosia 11.0
43 situs inversus 11.0
44 impotence 10.9
45 aniseikonia 10.9
46 primary ciliary dyskinesia 10.9
47 esotropia 10.9
48 nephronophthisis 10.9
49 carpenter syndrome 1 10.9
50 hypogonadotropic hypogonadism 1 with or without anosmia 10.9

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 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005280
4 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
5 intrauterine growth retardation 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001511
6 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
7 hydronephrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000126
8 hypospadias 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000047
9 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
10 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
11 adrenal hypoplasia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000835
12 metaphyseal dysplasia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0100255
13 macrocephaly 30 Occasional (7.5%) HP:0000256
14 global developmental delay 30 Occasional (7.5%) HP:0001263
15 osteopenia 30 Very rare (1%) HP:0000938
16 delayed skeletal maturation 30 Very rare (1%) HP:0002750
17 short nose 30 Very rare (1%) HP:0003196
18 prominent forehead 30 Very rare (1%) HP:0011220
19 hypercalciuria 30 Very rare (1%) HP:0002150
20 craniosynostosis 30 Very rare (1%) HP:0001363
21 epiphyseal dysplasia 30 HP:0002656
22 postnatal growth retardation 30 HP:0008897
23 micropenis 30 HP:0000054
24 hypercalcemia 30 HP:0003072
25 abnormality of the genital system 58 Very frequent (99-80%)
26 decreased response to growth hormone stimulation test 30 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 CDKN1C CYP11A1 GK MC2R MCM4 NEAT1
2 cellular MP:0005384 9.4 CDKN1C CYP11A1 GK MCM4 MKRN3 NEAT1

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 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
2
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
3
Iodine Approved, Investigational Phase 4 7553-56-2 807
4
Selenium Approved, Investigational, Vet_approved Phase 4 7783-07-5, 7782-49-2 533
5
Tocopherol Approved, Investigational Phase 4 1406-66-2
6
Heparin, bovine Approved, Investigational, Withdrawn Phase 4 9005-49-6 22833565 9812414 772
7
Reviparin Approved, Investigational Phase 4 9041-08-1
8
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0, 19085-09-7 4993
9
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
10
Chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
11
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
12
Ascorbic acid Approved, Nutraceutical Phase 4 50-81-7 54676860 54670067 5785
13
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
14
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
15
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
16
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
17
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
18
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
19
Cadexomer iodine Experimental Phase 4 94820-09-4
20
Tocotrienol Investigational Phase 4 6829-55-6 9929901
21 Analgesics Phase 4
22 Antirheumatic Agents Phase 4
23 Fibrinolytic Agents Phase 4
24 Antipyretics Phase 4
25 Cyclooxygenase Inhibitors Phase 4
26 Platelet Aggregation Inhibitors Phase 4
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Hormones Phase 4
31 Vitamin B6 Phase 4
32 Vitamin B3 Phase 4
33 Nicotinic Acids Phase 4
34
Vitamin B2 Phase 4
35 Vitamin B1 Phase 4
36 Vitamin B 6 Phase 4
37 Thiamin Phase 4
38 Tocotrienols Phase 4
39 Tocopherols Phase 4
40 Calcium heparin Phase 4
41 Anticoagulants Phase 4
42 Heparin, Low-Molecular-Weight Phase 4
43 Antioxidants Phase 4
44 Protective Agents Phase 4
45 Folic Acid Antagonists Phase 4
46 Amebicides Phase 4
47 Antiprotozoal Agents Phase 4
48 Antiparasitic Agents Phase 4
49 Fanasil, pyrimethamine drug combination Phase 4
50 Antimalarials Phase 4

Interventional clinical trials:

(show top 50) (show all 196)
# Name Status NCT ID Phase Drugs
1 Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies--A Multicenter, Prospective, Open, Randomized, Controlled Clinical Trial Unknown status NCT04051567 Phase 4 Aspirin 100mg
2 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
3 Growth Hormone Treatment of Children After Intrauterine Growth Retardation Completed NCT01697644 Phase 4 somatropin
4 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
5 An Open-label Randomized-Controlled Trial of Early Screening Test for Pre-eclampsia and Growth Restriction Completed NCT03674606 Phase 4 Low dose aspirin
6 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
7 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4 Chloroquine (CQ);Sulphadoxyne-pyrimethamine (SP)
8 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
9 Can Treatment With Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight? Completed NCT01390051 Phase 4 Innohep (Tinzaparin);tinzaparin
10 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
11 Evaluation of Dose-response Effect of Acetylsalicylic Acid on Placental Development, Preterm Birth, Fetal Growth and Hypertension in Pregnancy in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4 Acetylsalicylic Acid 160 mg;Acetylsalicylic Acid 80 mg
12 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
13 Efficacy L-arginine + L-citrulline as a Dietary Supplement vs Placebo for Weight Gain in Fetus With a Decrease in Their Growth Curve in the Third Trimester of Pregnancy Not yet recruiting NCT05029778 Phase 4 Placebo
14 Treatment of Intrauterine Growth Restriction With Low Molecular Heparin: Randomized Clinical Trial. Tratamiento Del Crecimiento Intrauterino Restringido Precoz Con Heparina de Bajo Peso Molecular: Ensayo clínico Aleatorizado. Unknown status NCT03324139 Phase 3 Low molecular weight heparin;Placebos
15 Sildenafil Versus Low Molecular Weight Heparin in Fetal Growth Restriction Treatment Unknown status NCT03230162 Phase 3 Sildenafil;low molecular weight heparin
16 Sildenafil Citrate for Treatment of Growth-restricted Fetuses Unknown status NCT03177824 Phase 3 Sildenafil Citrate 25Mg Tab;Placebo Oral Tablet
17 Phase 2 Study of Fetal Growth Retardation Treatment by Sildenafil Unknown status NCT01107782 Phase 2, Phase 3 sildenafil;placebo
18 Docosahexaenoic Acid (DHA) Supplementation During Pregnancy to Prevent Deep Placentation Disorders: A Randomized Clinical Trial and a Study of the Molecular Pathways of Abnormal Placentation Prevention Unknown status NCT02336243 Phase 3
19 Low-molecular-weight Heparin in Constituted Vascular Intrauterine Growth Restriction. Randomized Multicenter Trial Completed NCT02672566 Phase 3 Enoxaparin
20 A Randomized Controlled Trial Evaluating the Role of Sildenafil in the Treatment of Fetal Growth Restriction Completed NCT02590536 Phase 3 Sildenafil citrate;placebo
21 A Cohort of Pre-pubertal Children for the Study of Optimization of Methods of Administration of the Biosynthetic Growth Hormone MAXOMAT ® in the Treatment of Severe Early Onset Intrauterine Growth Retardation Completed NCT00452491 Phase 3 somatropin
22 Evolution of IGF-1 in Children Born Small for Gestational Age and With Growth Retardation, Treated by Genotonorm Especially Evolution After Dose Adaptation. Completed NCT00174252 Phase 3 Genotonorm (Somatropin)
23 A Two Years Multicentre Study of Genotropin Treatment of Short Prepubertal Children With Intra-Uterine Growth Retardation Completed NCT01073605 Phase 3 Genotonorm
24 Antepartum Chronic Epidural Therapy (ACET) Using Ropivacaine to Improve Uteroplacental Blood Flow in Pre-Eclampsia and Intrauterine Growth Restriction Completed NCT00197340 Phase 3 Epidural ropivacaine
25 An Open Study of the Safety and Efficacy of Saizen®, (Recombinant Human Growth Hormone, r-hGH), in Children Born With Serious Intra-uterine Growth Retardation (IUGR) Treated to Final Height Completed NCT01400698 Phase 3 Saizen® A;Saizen® B
26 Chronic Hypertension and Acetyl Salicylic Acid in Pregnancy, a Multicenter Prospective Randomized Double-blind Placebo-controlled Trial. Recruiting NCT04356326 Phase 3 Aspirin 150 mg;Placebo
27 Low Dose Aspirin for Preventing Intrauterine Growth Restriction and Preeclampsia in Sickle Cell Pregnancy (PIPSICKLE): a Randomized Controlled Trial Recruiting NCT05253781 Phase 3 Low-dose aspirin
28 Pentaerithrityltetranitrat (PETN) Zur Sekundärprophylaxe Der Intrauterinen Wachstumsretardierung Active, not recruiting NCT03669185 Phase 3 Pentalong;Placebos
29 Low Molecular Weight Heparin for the Treatment of Early Fetal Growth Restriction Not yet recruiting NCT04762992 Phase 3 subcutaneous Enoxaparin
30 Sleep Apnea and Fetal Growth Restriction Terminated NCT04084990 Phase 3
31 The Dutch STRIDER (Sildenafil TheRapy In Dismal Prognosis Early-onset Fetal Growth Restriction) Terminated NCT02277132 Phase 2, Phase 3 Sildenafil;Placebo
32 L-Arginine Treatment for Severe Vascular Fetal Intrauterine Growth Restriction: a Randomized Double Bind Controlled Trial Terminated NCT00549575 Phase 3 L ARG;Placebo
33 STRIDER Canada: A Randomized Controlled Trial of Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction (Canada) Terminated NCT02442492 Phase 2, Phase 3 Sildenafil;Placebo
34 A Randomized Trial of Transplacental Aspirin Therapy for Early Onset Fetal Growth Withdrawn NCT04557475 Phase 3 Aspirin
35 Sildenafil Citrate for the Management of Asymmetrical Intrauterine Growth Restriction Unknown status NCT02678221 Phase 2 Sildenafil citrate;Aspirin
36 Preterm Fetal Growth Restriction and Developmental Care Unknown status NCT00166660 Phase 2
37 Effect of Low Dose Aspirin on Birthweight in Twins: The GAP Trial Completed NCT02280031 Phase 2 Acetylsalicylic Acid;Placebo
38 The Effect of Omega 3 on Pregnancy Complicated by Asymmetrical Intrauterine Growth Restriction Completed NCT02696577 Phase 2 Low dose aspirin;Omega 3
39 Effect of Low-dose Aspirin on Fetal Weight of Idiopathic Asymmetrically Intrauterine Growth Restricted Fetuses With Abnormal Umbilical Doppler Indices Completed NCT03038607 Phase 2 Aspirin
40 Effects of Oral Ginkgo Biloba Extract on Pregnancy Complicated by Asymmetrically Intrauterine Growth Restriction: a Double-blinded Randomized Placebo-controlled Trial Completed NCT02425436 Phase 2 Ginkgo Biloba Extract
41 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
42 Femur Length to Mid-thigh Circumference Ratio in Prediction of IUGR Unknown status NCT01981824
43 Ultrasound Evaluation of Fetal Hemodynamics and Its Variations in Small Fetuses Looking for Prognostic Factors of Perinatal Complications Unknown status NCT03865628
44 Intra Uterine Growth Restriction. Minimum Required Evidence-based Care and Neonatal Prognosis: Impact of Healthcare Pathways Unknown status NCT03866863
45 "Kan IUGR og præeclampsi Forudsiges ud Fra YKL-40 målt i Serum?" "Metoder Til at Vurdere om Den Gravide Har Risiko for at Udvikle Svangerskabsforgiftning og/Eller væksthæmning Hos Fosteret". Unknown status NCT00836524
46 Fetal Heart Rate Variability Compared to Doppler Flows in the Growth Restricted Fetus: a Cohort Study Unknown status NCT04288037
47 Antenatal Detection of Fetal Growth Restriction : Determinants and Consequences for Stillbirths Rate. Unknown status NCT01995968
48 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
49 Evaluation of the Risk of Necrotizing Enterocolitis in Fetuses With Intrauterine Growth Restriction. Unknown status NCT03869827
50 Effect of L-Arginine on Intrauterine Growth Restriction Fetuses Measured by Birth Weight: Randomized Controlled Trial Unknown status NCT03321292 L-arginine 1000 mg and Acetylesalicylic acid75mg;acetylsalicylic acid 75 mg

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 Image Syndrome 28 CDKN1C
2 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 28

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

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

MalaCards : Bone, Testes, Kidney, Brain, Breast, Prostate, Heart

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

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

(show top 50) (show all 30049)
# Title Authors PMID Year
1
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 62 24 57 5
22634751 2012
2
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. 62 24 57 5
15769992 2005
3
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio. 62 24 5
25614875 2014
4
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. 62 24 57
21108398 2010
5
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. 62 24 57
10599684 1999
6
CDKN1C mutations: two sides of the same coin. 62 5
25262539 2014
7
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay. 62 24
33443097 2022
8
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma. 62 24
34098225 2021
9
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience 62 24
32938577 2021
10
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. 62 24
33076988 2020
11
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. 62 24
31976094 2019
12
Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. 62 24
25861374 2015
13
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. 62 24
25057881 2014
14
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. 62 24
24313804 2014
15
Anesthetic and dental management of a child with IMAGe syndrome. 62 24
25517553 2014
16
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. 62 24
24065356 2013
17
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. 62 24
23719190 2013
18
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. 62 24
24098681 2013
19
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. 62 24
19760774 2010
20
Radiological evolution in IMAGe association: a case report. 62 24
18627061 2008
21
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? 62 24
17702017 2007
22
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth. 62 24
17120039 2007
23
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. 62 24
16835919 2006
24
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. 62 24
16504561 2006
25
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. 62 24
14760276 2004
26
IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. 62 24
12065932 2002
27
Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism. 24
8677114 1996
28
Ultrasound placental image texture analysis using artificial intelligence to predict hypertension in pregnancy. 62
33596762 2022
29
A Topological Loss Function for Deep-Learning Based Image Segmentation Using Persistent Homology. 62
32886606 2022
30
Diabetic Retinopathy Telemedicine Outcomes With Artificial Intelligence-Based Image Analysis, Reflex Dilation, and Image Overread. 62
35970206 2022
31
Iterative reconstruction vs deep learning image reconstruction: comparison of image quality and diagnostic accuracy of arterial stenosis in low-dose lower extremity CT angiography. 62
36341682 2022
32
HIWDNet: A hybrid image-wavelet domain network for fast magnetic resonance image reconstruction. 62
36334363 2022
33
Spectral CT reconstruction via Spectral-Image Tensor and Bidirectional Image-gradient minimization. 62
36327881 2022
34
Image feature extraction and recognition model construction of coal and gangue based on image processing technology. 62
36470904 2022
35
A dataset of pairs of an image and tags for cataloging image-based archives. 62
36426020 2022
36
Individual differences in relational body image: Within-person variability predicts maladaptive trait body image. 62
36029529 2022
37
Feasibility of deep learning k-space-to-image reconstruction for diffusion weighted imaging in patients with breast cancers: Focus on image quality and reduced scan time. 62
36403564 2022
38
Fetal speckle-tracking echocardiography: a comparison between two-dimensional and electronic spatio-temporal image correlation (e-STIC) technique. 62
33823732 2022
39
Ultra-High-Resolution Coronary CT Angiography With Photon-Counting Detector CT: Feasibility and Image Characterization. 62
35640019 2022
40
Three-dimensional reconstruction of Kambin's triangle based on automated magnetic resonance image segmentation. 62
35233815 2022
41
Perpetration of Image-Based Sexual Abuse: Extent, Nature and Correlates in a Multi-Country Sample. 62
35184577 2022
42
Image-Based Artificial Intelligence in Wound Assessment: A Systematic Review. 62
34544270 2022
43
Estimation of Wetness and Color from a Single Multispectral Image. 62
30843820 2022
44
A New Approach to Descriptors Generation for Image Retrieval by Analyzing Activations of Deep Neural Network Layers. 62
34111005 2022
45
Fine-Grained Image Analysis With Deep Learning: A Survey. 62
34752384 2022
46
Low-Light Image and Video Enhancement Using Deep Learning: A Survey. 62
34752382 2022
47
Effect of long-acting injectable antipsychotics on emergency department visits and hospital admissions in people with bipolar disorder: A retrospective mirror-image analysis from the Northern Milan Area Cohort (NOMIAC) study. 62
36058358 2022
48
Computational Imaging to Compensate for Soft-Tissue Deformations in Image-Guided Breast Conserving Surgery. 62
35604993 2022
49
The Perfect Storm: A Developmental-Sociocultural Framework for the Role of Social Media in Adolescent Girls' Body Image Concerns and Mental Health. 62
35841501 2022
50
Bias in machine learning for computer-assisted surgery and medical image processing. 62
35133238 2022

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

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

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKN1C NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs) INDEL Pathogenic
981177 GRCh37: 11:2905359-2905363
GRCh38: 11:2884129-2884133
2 CDKN1C NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) SNV Pathogenic
35528 rs387907223 GRCh37: 11:2905359-2905359
GRCh38: 11:2884129-2884129
3 CDKN1C NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) SNV Pathogenic
35529 rs387907224 GRCh37: 11:2905358-2905358
GRCh38: 11:2884128-2884128
4 CDKN1C NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) SNV Pathogenic
35530 rs318240750 GRCh37: 11:2905349-2905349
GRCh38: 11:2884119-2884119
5 CDKN1C NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) SNV Pathogenic
35532 rs387907226 GRCh37: 11:2905353-2905353
GRCh38: 11:2884123-2884123
6 CDKN1C NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) SNV Pathogenic
35531 rs387907225 GRCh37: 11:2905900-2905900
GRCh38: 11:2884670-2884670
7 CDKN1C NM_001122630.2(CDKN1C):c.787+2T>A SNV Likely Pathogenic
989317 rs1554937698 GRCh37: 11:2905898-2905898
GRCh38: 11:2884668-2884668
8 CDKN1C NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) SNV Uncertain Significance
454037 rs776541692 GRCh37: 11:2905337-2905337
GRCh38: 11:2884107-2884107
9 CDKN1C NM_001122630.2(CDKN1C):c.-132G>A SNV Uncertain Significance
236947 rs147317732 GRCh37: 11:2906985-2906985
GRCh38: 11:2885755-2885755
10 CDKN1C NM_001122630.2(CDKN1C):c.-11+61G>A SNV Uncertain Significance
236948 rs188494894 GRCh37: 11:2906803-2906803
GRCh38: 11:2885573-2885573
11 CDKN1C NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) SNV Uncertain Significance
1413786 GRCh37: 11:2906513-2906513
GRCh38: 11:2885283-2885283
12 CDKN1C NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) SNV Uncertain Significance
404249 rs531059713 GRCh37: 11:2905299-2905299
GRCh38: 11:2884069-2884069
13 CDKN1C NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) SNV Benign
404254 rs771731330 GRCh37: 11:2906367-2906367
GRCh38: 11:2885137-2885137
14 CDKN1C NM_001122630.2(CDKN1C):c.*5+18dup DUP Benign
254879 rs34289096 GRCh37: 11:2905204-2905205
GRCh38: 11:2883974-2883975
15 CDKN1C NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) SNV Not Provided
986832 rs1848883206 GRCh37: 11:2905350-2905350
GRCh38: 11:2884120-2884120
16 CDKN1C NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) SNV Not Provided
132130 rs515726203 GRCh37: 11:2905905-2905905
GRCh38: 11:2884675-2884675
17 CDKN1C NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) SNV Not Provided
254171 rs886037912 GRCh37: 11:2905343-2905343
GRCh38: 11:2884113-2884113
18 CDKN1C NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) SNV Not Provided
192361 rs318240750 GRCh37: 11:2905349-2905349
GRCh38: 11:2884119-2884119

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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 POLE4 POLE MCM4 CDKN1C

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 epsilon DNA polymerase complex GO:0008622 8.92 POLE4 POLE

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 Leydig cell differentiation GO:0033327 9.62 NR5A1 NR0B1
2 male sex determination GO:0030238 9.56 NR5A1 NR0B1
3 Sertoli cell differentiation GO:0060008 9.46 NR5A1 NR0B1
4 sex determination GO:0007530 9.13 NR5A1 NR0B1
5 adrenal gland development GO:0030325 9.1 NR5A1 NR0B1 CDKN1C

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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