MCID: IMG001
MIFTS: 20

Image Syndrome malady

Endocrine category

Summaries for Image Syndrome

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33MalaCards
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MalaCards: Image Syndrome, also known as intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, is related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and bladder carcinoma. An important gene associated with Image Syndrome is CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)), and among its related pathways are Cell cycle and DNA Damage. The compound 5-aza-2deoxycytidine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skeletal muscle.

Aliases & Classifications for Image Syndrome

Sources:
20GeneTests, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

image syndrome 20
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 61


Related Diseases for Image Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Image Syndrome:



Diseases related to image syndrome

Clinical Features for Image Syndrome

Drugs & Therapeutics for Image Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Image Syndrome

Drug clinical trials:

Search ClinicalTrials for Image Syndrome

Search NIH Clinical Center for Image Syndrome

Search CenterWatch for Image Syndrome

Genetic Tests for Image Syndrome

Sources:
20GeneTests
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Genetic tests related to Image Syndrome:

id Genetic test Affiliating Genes
1 Image Syndrome20 CDKN1C

Anatomical Context for Image Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Image Syndrome:

33
Brain, Heart, Skeletal muscle, Small intestine, Colon, Lung, Salivary gland, Adrenal gland, Skin, Fetal brain, Fetal lung, Pituitary

Animal Models for Image Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Image Syndrome

Sources:
51PubMed
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Articles related to Image Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
A case of catastrophic antiphospholipid syndrome, which presented an acute interstitial pneumonia-like image on chest CT scan. (23553659)
2013
2
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. (24098681)
2013
3
Images in clinical medicine. Heerfordt's syndrome, or uveoparotid fever. (23902485)
2013
4
Images in anesthesiology: reversible anterior spinal artery syndrome during celiac plexus block. (22710956)
2013
5
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. (23263154)
2013
6
Mirizzi syndrome with endoscopic ultrasound image. (23741207)
2013
7
Images in clinical medicine. Staphylococcal toxic shock syndrome. (23984732)
2013
8
Image of the month: superior mesenteric artery syndrome. (24224197)
2013
9
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (22634751)
2012
10
Images in clinical medicine. Ectopic Cushing's syndrome. (22188007)
2011
11
Image of the month. Digital clubbing in association with hepatopulmonary syndrome. (20882578)
2011
12
Images in emergency medicine. Adult female with malignant pain. Horner's syndrome as a result of a Pancoast tumor. (21353907)
2011
13
Clinical Image: digital necrosis due to severe carpal tunnel syndrome. (21305520)
2011
14
Medical image. Unusual case of thoracic outlet syndrome. (21681256)
2011
15
Hemorrhagic Retinoschisis in Shaken Baby Syndrome Imaged with Spectral Domain Optical Coherence Tomography. (20337286)
2010
16
Images in Cardiovascular Medicine. Scimitar syndrome: added value by isotropic flow-sensitive four-dimensional magnetic resonance imaging with PC-VIPR (phase-contrast vastly undersampled isotropic projection reconstruction). (20547935)
2010
17
A review of facial image analysis for delineation of the facial phenotype associated with fetal alcohol syndrome. (20101703)
2010
18
Assessment of carotid compliance using real time vascular ultrasound image analysis in Marfan syndrome. (19054030)
2009
19
Medical image. Tietze's syndrome. (19305456)
2009
20
Images in cardiovascular medicine. Dynamic left main coronary artery obstruction associated with Williams syndrome. (19597063)
2009
21
Image in endocrinology. Pheochromocytoma with subclinical Cushing's syndrome caused by corticomedullary mixed tumor of the adrenal gland. (19261896)
2009
22
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
23
Selective motor imagery defect in patients with locked-in syndrome. (18533201)
2008
24
Images in clinical medicine. Complex regional pain syndrome type 1. (18669429)
2008
25
Medical image. Anton's syndrome secondary to cerebral vasculitis. (18797490)
2008
26
Images in HIV/AIDS. Stevens-Johnson syndrome associated with thalidomide treatment in HIV infection. (18975442)
2008
27
The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndrome. (17717215)
2007
28
Images in cardiovascular medicine. Wolff-Parkinson-White syndrome and atrial fibrillation in a patient with a coronary sinus diverticulum. (17515469)
2007
29
Images in emergency medicine. Gardner-Diamond syndrome. (17643849)
2007
30
Reliability of observer assessment of thermographic images in complex regional pain syndrome type 1. (17441655)
2007
31
Mirror image Berry syndrome: a case report of complex aortopulmonary malformation in viscero-atrial situs inversus. (17353855)
2007
32
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. (16835919)
2006
33
MRCP diagnosis of Mirizzi syndrome in a paediatric patient: importance of T1-weighted gradient echo images for diagnosis. (16752132)
2006
34
Medical image. Meningococcal septic shock with adrenal apoplexy--Waterhouse-Friderichsen syndrome. (16868589)
2006
35
Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. (16374086)
2005
36
Images in cardiovascular medicine. Torsade de pointes in a patient with Wolff-Parkinson-White syndrome. (15811862)
2005
37
Images in clinical medicine. Circumpapillary retinal ridge in the shaken-baby syndrome. (15247357)
2004
38
Surgical images: musculoskeletal. Delayed cauda equina syndrome due to a sacral insufficiency fracture missed after a minor trauma. (15132465)
2004
39
Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome. (15305539)
2004
40
Image of the month. Mirizzi syndrome. (15078716)
2004
41
Images in cardiology: Common atrium in a child with Ellis-Van Creveld syndrome. (12117837)
2002
42
Soft-tissue images. Adrenocortical adenocarcinoma presenting as Conn's syndrome. (10223065)
1999
43
Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. (9858014)
1998
44
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
45
Image of the month. Cronkhite-Canada syndrome. (9394720)
1997
46
Abnormal magnetic resonance images in hemorrhagic shock and encephalopathy syndrome. (7930423)
1994
47
Images in Clinical Medicine: Peutz-Jeghers syndrome. (8350887)
1993
48
Image interpretation session. Cystic fibrosis with distal intestinal obstruction syndrome or meconium ileus equivalent. (1734466)
1992
49
"The battered image syndrome"--we can overcome it. (2314309)
1990
50
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. (3128691)
1988

Genetic Variations for Image Syndrome

Expression for genes affiliated with Image Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Image Syndrome

Search GEO for disease gene expression data for Image Syndrome.

Pathways for genes affiliated with Image Syndrome

Sources:
30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome
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Pathways related to Image Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0PCNA
2
Hide members
9.1PCNA, CDKN1C
3
Hide members
9.1PCNA, CDKN1C

Compounds for genes affiliated with Image Syndrome

Sources:
45Novoseek
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Compounds related to Image Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine459.1PCNA, CDKN1C

GO Terms for genes affiliated with Image Syndrome

Products for genes affiliated with Image Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Image Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet