IMAGE
MCID: IMG001
MIFTS: 50

Image Syndrome (IMAGE) malady

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

Aliases & Classifications for Image Syndrome

Aliases & Descriptions for Image Syndrome:

Name: Image Syndrome 54 12 23 50 24 56 66 13 14
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 54 24 66 69
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 50 56 29
Intrauterine Growth Restriction 23 29
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 12
Adrenal Hypoplasia Congenita,genital Anomalies 23
Pyle Metaphyseal Dysplasia 69
Fetal Growth Retardation 69
Metaphyseal Dysplasia 23
Image 66

Characteristics:

Orphanet epidemiological data:

56
image syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
image syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 614732
Disease Ontology 12 DOID:0050885
Orphanet 56 ORPHA85173
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1846009

Summaries for Image Syndrome

UniProtKB/Swiss-Prot : 66 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.

MalaCards based summary : Image Syndrome, also known as intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, is related to spondylo-megaepiphyseal-metaphyseal dysplasia and metaphyseal dysplasia, spahr type, and has symptoms including low-set ears, frontal bossing and muscular hypotonia. An important gene associated with Image Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Udenafil and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is Increased cell death HMECs cells.

OMIM : 54 IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia,... (614732) more...

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

GeneReviews: NBK190103

Related Diseases for Image Syndrome

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

(show all 28)
id Related Disease Score Top Affiliating Genes
1 spondylo-megaepiphyseal-metaphyseal dysplasia 12.3
2 metaphyseal dysplasia, spahr type 12.3
3 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.2
4 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 12.1
5 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.1
6 metaphyseal dysplasia without hypotrichosis 12.1
7 laurin-sandrow syndrome 11.5
8 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.8
9 toxic encephalopathy 10.1 CDKN1C NR0B1
10 pterygium, antecubital 10.1 CDKN1C NR0B1
11 tick infestation 10.0 CDKN1C NR0B1
12 microcephaly, seizures, and developmental delay 10.0 CDKN1C PCNA
13 familial multiple trichodiscomas 10.0 NNT NR0B1
14 cytomegalovirus retinitis 10.0 NR0B1 NR5A1
15 abl1 kd-related altered drug metabolism 10.0 NR0B1 NR5A1
16 duchenne muscular dystrophy 10.0 NR0B1 NR5A1
17 autosomal dominant optic atrophy and late-onset deafness 9.9 NR0B1 NR5A1
18 cardiomyopathy, dilated, 1v 9.9 NR0B1 NR5A1
19 malignant otitis externa 9.9 NR0B1 NR5A1
20 benign peritoneal mesothelioma 9.9 NNT NR5A1
21 salpingo-oophoritis 9.9 NR0B1 NR5A1
22 farmer's lung 9.9 NR0B1 NR5A1
23 46 xx gonadal dysgenesis 9.8 NR0B1 NR5A1
24 epidural neoplasm 9.8 NR0B1 NR5A1
25 loeffler endocarditis 9.8 NR0B1 NR5A1
26 cerebral cavernous malformations-2 9.8 CDKN1C NR0B1 NR5A1
27 deafness, autosomal dominant 7 9.7 NR0B1 NR5A1
28 centrotemporal epilepsy 9.3 CDKN1C NNT NR0B1 NR5A1 PCNA

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



Diseases related to Image Syndrome

Symptoms & Phenotypes for Image Syndrome

Symptoms by clinical synopsis from OMIM:

614732

Clinical features from OMIM:

614732

Human phenotypes related to Image Syndrome:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 56 32 Very frequent (99-80%) HP:0000369
2 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
5 micromelia 56 32 Very frequent (99-80%) HP:0002983
6 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
7 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
8 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
9 hypospadias 56 32 Very frequent (99-80%) HP:0000047
10 hydronephrosis 56 32 Very frequent (99-80%) HP:0000126
11 adrenal hypoplasia 56 32 Very frequent (99-80%) HP:0000835
12 metaphyseal dysplasia 56 32 Very frequent (99-80%) HP:0100255
13 macrocephaly 32 HP:0000256
14 global developmental delay 32 HP:0001263
15 delayed skeletal maturation 32 HP:0002750
16 short nose 32 HP:0003196
17 prominent forehead 32 HP:0011220
18 epiphyseal dysplasia 32 HP:0002656
19 postnatal growth retardation 32 HP:0008897
20 hypercalciuria 32 HP:0002150
21 hypercalcemia 32 HP:0003072
22 abnormality of the genital system 56 Very frequent (99-80%)
23 micropenis 32 HP:0000054
24 growth hormone deficiency 32 HP:0000824

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.8 NR0B1 NR5A1 PCNA

Drugs & Therapeutics for Image Syndrome

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

(show top 50) (show all 268)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523
2
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
3
Lansoprazole Approved, Investigational Phase 4,Phase 2 103577-45-3 3883
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
5
Glycerol Approved, Experimental Phase 4 56-81-5 753
6
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Remifentanil Approved Phase 4 132875-61-7 60815
9
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
10 Phosphodiesterase 5 Inhibitors Phase 4
11 Phosphodiesterase Inhibitors Phase 4
12 Hormones Phase 4,Phase 2
13 Anti-Inflammatory Agents Phase 4,Phase 2
14 Pharmaceutical Solutions Phase 4,Phase 2
15 Hormone Antagonists Phase 4,Phase 2
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
17 Dopamine Agents Phase 4,Phase 3
18 Neurotransmitter Agents Phase 4,Phase 3
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
20 Antineoplastic Agents, Hormonal Phase 4,Phase 2
21 glucocorticoids Phase 4,Phase 2
22
Dexlansoprazole Phase 4,Phase 2 138530-94-6, 103577-45-3 9578005
23 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
24
Proton pump inhibitors Phase 4,Phase 2
25 Polyethylene glycol 3350 Phase 4
26 Corticotropin-Releasing Hormone Phase 4
27 Cortisol succinate Phase 4
28 Hydrocortisone 17-butyrate 21-propionate Phase 4
29 Hydrocortisone acetate Phase 4
30 Anti-Allergic Agents Phase 4
31 Lubricant Eye Drops Phase 4
32 Ophthalmic Solutions Phase 4
33 Tetrahydrozoline Phase 4
34 Estrogens Phase 4,Phase 2
35 Analgesics Phase 4
36 Anesthetics Phase 4,Phase 3
37 Antidepressive Agents Phase 4,Phase 3
38 Central Nervous System Depressants Phase 4,Phase 3
39 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
40 Psychotropic Drugs Phase 4,Phase 3
41
Serotonin Phase 4,Phase 3 50-67-9 5202
42 Contraceptive Agents Phase 4
43 Contraceptives, Oral Phase 4
44 Contraceptives, Oral, Combined Phase 4
45 Progestins Phase 4
46 Analgesics, Opioid Phase 4
47 Anesthetics, General Phase 4
48 Anesthetics, Intravenous Phase 4
49 Duloxetine Hydrochloride Phase 4
50 Hypnotics and Sedatives Phase 4

Interventional clinical trials:

(show top 50) (show all 236)
id Name Status NCT ID Phase
1 Understanding of Chest Pain in Microvascular Disease Proved by Cardiac Magnetic Resonance Image Unknown status NCT01769482 Phase 4
2 PROMAD: Predicting Therapeutic Outcome of Mandibular Advancement Device Treatment in Obstructive Sleep Apnea Unknown status NCT01532050 Phase 4
3 Mode of Action of Moviprep Completed NCT01622972 Phase 4
4 Single-dose Linaclotide for Capsule Endoscopy Preparation Completed NCT02465385 Phase 4
5 Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose Absorption Completed NCT01763281 Phase 4
6 The Utility of in Vivo Confocal Microscopy to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye Disease Completed NCT02120079 Phase 4
7 Oral Contraceptive Therapy and Sexuality Recruiting NCT02613039 Phase 4
8 Imaging Pain Relief in Osteoarthritis Active, not recruiting NCT02208778 Phase 4
9 Oral Prednisone Taper Versus Placebo for the Treatment of Acute Relapses in Multiple Sclerosis Terminated NCT01411514 Phase 4
10 Comparative Study of Epigastric Pain Syndrome and Postprandial Distress Syndrome Withdrawn NCT00673972 Phase 4
11 Bone Marrow Angiogenesis in Acute Myeloid Leukemia - Evaluated by Dynamic Contrast Enhanced Magnetic Resonance (MR) Image Unknown status NCT00172562 Phase 3
12 Bowel Preparation and Prokinetics in Capsule Endoscopy Unknown status NCT00275184 Phase 3
13 Brain Imaging and Treatment Studies of the Night Eating Syndrome Completed NCT01401595 Phase 3
14 Evaluate Early Glatiramer Acetate Treatment in Delaying Conversion to Clinically Definite Multiple Sclerosis of Subjects Presenting With Clinically Isolated Syndrome Completed NCT00666224 Phase 3
15 A Study to Evaluate the Use and Safety of CARDIOLITE® in Pediatric Patients With Kawasaki Disease Completed NCT00162032 Phase 3
16 Efficacy of Thoracic Paravertebral Block in the Reduction of Acute Post-surgical Pain in Patients With Breast Cancer Completed NCT02609321 Phase 3
17 Comparing the Safety, Effectiveness, and Tolerability of Three Anti-HIV Drug Regimens for Treatment-Naive Patients Completed NCT00050895 Phase 3
18 Efficacy of Cholecalciferol (Vitamin D3) for Delaying the Diagnosis of MS After a Clinically Isolated Syndrome Recruiting NCT01817166 Phase 3
19 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
20 Oral Steroids for Regorafenib-induced Fatigue/Malaise in Unresectable mCRC (KSCC1402/HGCSG1402) Unknown status NCT02288078 Phase 2
21 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
22 Study of 99mTc-glucarate to Detect Acute Coronary Syndrome in Chest Pain Patients. Completed NCT00614354 Phase 2
23 Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid. Completed NCT00928304 Phase 2
24 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2
25 Safety and Efficacy Iodofiltic Acid I 123 in the Treatment of Acute Coronary Syndrome Completed NCT00514501 Phase 2
26 Study of Individuals With Parkinson's Symptoms But in Whom There is Diagnostic Uncertainty Completed NCT00129675 Phase 2
27 Development of Imaging, Clinical and Biochemical Bio-Markers for Parkinson's Disease Completed NCT00315250 Phase 2
28 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2
29 Art Therapy to Treat Women With Fibromyalgia Completed NCT01586637 Phase 2
30 A Randomized Study of Iodine-131 Anti-b1 Antibody Versus Anti-b1 Antibody in Chemotherapy-relapsed/Refractory Low-grade or Transformed Low-grade Non-Hodgkin's Lymphoma (NHL) Completed NCT01573000 Phase 2
31 A Trial to Determine Radiation Exposure to Organs and Assess the Safety of CARDIOLITE® in Pediatric Subjects Completed NCT00162045 Phase 1, Phase 2
32 Investigator Initiated Study of the Effects of Androgen Therapy on Carbohydrate and Lipid Metabolism In Elderly Men Completed NCT00365794 Phase 2
33 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Recruiting NCT01967537 Phase 2
34 Cyclosporine Inhalation Solution (CIS) in Lung Transplant and Hematopoietic Stem Cell Transplant Recipients for the Treatment of Bronchiolitis Obliterans Recruiting NCT01287078 Phase 2
35 Prospective Study for Transplant Optimization Using Functional Imaging (TROFI) Recruiting NCT02488304 Phase 2
36 Pilot Study of Lupron to Improve Immune Function After Allogeneic Bone Marrow Transplantation Active, not recruiting NCT01338987 Phase 2
37 Busulfan, Etoposide, and Intensity-Modulated Radiation Therapy Followed By Donor Stem Cell Transplant in Treating Patients With Advanced Myeloid Cancer Active, not recruiting NCT00540995 Phase 1, Phase 2
38 Study of Adrenalectomy Versus Observation for Subclinical Hypercortisolism Active, not recruiting NCT02001051 Phase 2
39 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
40 Acupuncture for Primary Sjögren Syndrome Not yet recruiting NCT02691377 Phase 2
41 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
42 IVIG Treatment for Refractory Immune-Related Adult Epilepsy Terminated NCT01545518 Phase 2
43 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1
44 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
45 PET Study in Patients With Non-Hodgkin Lymphoma Completed NCT00712556 Phase 1
46 Evaluate the Use of Optical Frequency Domain Imaging (OFDI) for Celiac Disease in Children, Adolescents and Young Adults Completed NCT01439035 Phase 1
47 Thermal Imaging in Neonates: A Feasibility Study in Healthy Babies and Babies With Suspected TTN Completed NCT02570828 Phase 1
48 Transcranial Magnetic Stimulation for Children With Tourette's Syndrome Recruiting NCT02356003 Phase 1
49 Imaging the Duodenum Using an Optical Frequency Domain Imaging OFDI Capsule Recruiting NCT02202681 Phase 1
50 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1

Search NIH Clinical Center for Image Syndrome

Genetic Tests for Image Syndrome

Genetic tests related to Image Syndrome:

id Genetic test Affiliating Genes
1 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 29
2 Intrauterine Growth Restriction 29
3 Image Syndrome 24 CDKN1C

Anatomical Context for Image Syndrome

MalaCards organs/tissues related to Image Syndrome:

39
Bone

Publications for Image Syndrome

Articles related to Image Syndrome:

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

Variations for Image Syndrome

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

66
id 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

ClinVar genetic disease variations for Image Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDKN1C NM_000076.2(CDKN1C): c.826T> G (p.Phe276Val) single nucleotide variant Pathogenic rs387907223 GRCh37 Chromosome 11, 2905359: 2905359
2 CDKN1C NM_000076.2(CDKN1C): c.827T> C (p.Phe276Ser) single nucleotide variant Pathogenic rs387907224 GRCh37 Chromosome 11, 2905358: 2905358
3 CDKN1C NM_000076.2(CDKN1C): c.836G> C (p.Arg279Pro) single nucleotide variant Pathogenic rs318240750 GRCh37 Chromosome 11, 2905349: 2905349
4 CDKN1C NM_000076.2(CDKN1C): c.820G> A (p.Asp274Asn) single nucleotide variant Pathogenic rs387907225 GRCh37 Chromosome 11, 2905900: 2905900
5 CDKN1C NM_000076.2(CDKN1C): c.832A> G (p.Lys278Glu) single nucleotide variant Pathogenic rs387907226 GRCh37 Chromosome 11, 2905353: 2905353
6 CDKN1C NM_000076.2(CDKN1C): c.815T> G (p.Ile272Ser) single nucleotide variant Pathogenic rs515726203 GRCh38 Chromosome 11, 2884675: 2884675
7 CDKN1C NM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu) single nucleotide variant Pathogenic rs318240750 GRCh38 Chromosome 11, 2884119: 2884119
8 CDKN1C NM_000076.2(CDKN1C): c.842G> T (p.Arg281Ile) single nucleotide variant Pathogenic rs886037912 GRCh38 Chromosome 11, 2884113: 2884113

Expression for Image Syndrome

Search GEO for disease gene expression data for Image Syndrome.

Pathways for Image Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 NR0B1 NR5A1
2 10.49 CDKN1C PCNA

GO Terms for Image Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.37 NR0B1 NR5A1
2 male gonad development GO:0008584 9.32 NR0B1 NR5A1
3 steroid hormone mediated signaling pathway GO:0043401 9.26 NR0B1 NR5A1
4 intracellular receptor signaling pathway GO:0030522 9.16 NR0B1 NR5A1
5 sex determination GO:0007530 8.96 NR0B1 NR5A1
6 adrenal gland development GO:0030325 8.8 CDKN1C NR0B1 NR5A1

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

id Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 8.96 NR0B1 NR5A1
2 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 8.62 NR0B1 NR5A1

Sources for Image Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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