MCID: IMG001
MIFTS: 23

Image Syndrome malady

Genetic diseases (common), Endocrine diseases categories
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Summaries for Image Syndrome

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19GeneReviews, 33MalaCards
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MalaCards: Image Syndrome, also known as intrauterine growth restriction, is related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and metaphyseal dysplasia. An important gene associated with Image Syndrome is CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)), and among its related pathways are Cell Cycle / Checkpoint Control and E2F mediated regulation of DNA replication. The compound 5-aza-2deoxycytidine have been mentioned in the context of this disorder.

GeneReviews summary for image

Aliases & Classifications for Image Syndrome

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19GeneReviews, 20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


Aliases & Descriptions:

image syndrome 19 20
intrauterine growth restriction 19 22
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 62
adrenal hypoplasia congenita,genital anomalies 19
metaphyseal dysplasia 19


Related Diseases for Image Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Image Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies30.2CDKN1C
2metaphyseal dysplasia11.0
3eclampsia10.8
4pre-eclampsia10.8
5placental insufficiency10.7
6endotheliitis10.6
7spondylo-megaepiphyseal-metaphyseal dysplasia10.5
8oligohydramnios10.5
9ulna metaphyseal dysplasia syndrome10.5
10thrombophilia10.5
11metaphyseal dysplasia without hypotrichosis10.4
12hellp syndrome10.4
13hypoxia10.4
14hypospadias10.4
15gastroschisis10.4
16hypertension10.4
17metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.4
18craniometaphyseal dysplasia10.3
19metaphyseal anadysplasia10.3
20metaphyseal dysplasia, braun-tinschert type10.3
21microcephaly10.3
22gestational diabetes10.3
23polyhydramnios10.3
24lissencephaly10.3
25thyroiditis10.3
26mosaic trisomy 210.3
27schmid metaphyseal chondrodysplasia10.3
28mckusick type metaphyseal dysplasia10.3
29pancreatitis10.3
30dwarfism10.3
31metaphyseal dysplasia maxillary hypoplasia brachydactyly10.3
32multiple joint dislocations metaphyseal dysplasia10.3
33verloes van maldergem marneffe syndrome10.3
34cartilage-hair hypoplasia10.2
35osteopetrosis10.2
36brachydactyly10.2
37schwachman diamond type metaphyseal dysplasia10.2
38jansen's metaphyseal chondrodysplasia10.2
39spondyloepimetaphyseal dysplasia, missouri type10.2
40exocrine pancreatic insufficiency10.2
41optic atrophy10.2
42frontometaphyseal dysplasia10.2
43lead poisoning10.2
44autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
45pulmonary immaturity10.1
46cystadenoma10.1
47polydactyly10.1
48glucose intolerance10.1
49holoprosencephaly10.1
50twin-to-twin transfusion syndrome10.1

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



Diseases related to image syndrome

Symptoms for Image Syndrome

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Drugs & Therapeutics for Image Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Image Syndrome

Search NIH Clinical Center for Image Syndrome

Genetic Tests for Image Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Image Syndrome:

id Genetic test Affiliating Genes
1 Image Syndrome20 CDKN1C
2 Intrauterine Growth Restriction22

Anatomical Context for Image Syndrome

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Animal Models for Image Syndrome or affiliated genes

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Publications for Image Syndrome

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Sources:
52PubMed
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Articles related to Image Syndrome:

idTitleAuthorsYear
1
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. (24098681)
2013
2
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. (24313804)
2013
3
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (22634751)
2012
4
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. (21108398)
2010
5
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. (16835919)
2006
6
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. (14760276)
2004

Variations for Image Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Image Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CDKN1CNM_000076.2(CDKN1C): c.815T> G (p.Ile272Ser)single nucleotide variantPathogenicrs515726203GRCh38Chr 11, 2884675: 2884675
2CDKN1CNM_000076.2(CDKN1C): c.826T> G (p.Phe276Val)single nucleotide variantPathogenicrs387907223GRCh37Chr 11, 2905359: 2905359
3CDKN1CNM_000076.2(CDKN1C): c.827T> C (p.Phe276Ser)single nucleotide variantPathogenicrs387907224GRCh37Chr 11, 2905358: 2905358
4CDKN1CNM_000076.2(CDKN1C): c.836G> C (p.Arg279Pro)single nucleotide variantPathogenicrs318240750GRCh37Chr 11, 2905349: 2905349
5CDKN1CNM_000076.2(CDKN1C): c.820G> A (p.Asp274Asn)single nucleotide variantPathogenicrs387907225GRCh37Chr 11, 2905900: 2905900
6CDKN1CNM_000076.2(CDKN1C): c.832A> G (p.Lys278Glu)single nucleotide variantPathogenicrs387907226GRCh37Chr 11, 2905353: 2905353

Expression for genes affiliated with Image Syndrome

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2BioGPS, 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

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Sources:
50PathCards, 5Cell Signaling Technology, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Image Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CDKN1C, PCNA
2
Show member pathways
9.1CDKN1C, PCNA
3
Show member pathways
Cell cycle38
9.1CDKN1C, PCNA

Compounds for genes affiliated with Image Syndrome

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

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

GO Terms for genes affiliated with Image Syndrome

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Products for genes affiliated with Image Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Image Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet