MCID: IMG001
MIFTS: 37

Image Syndrome malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for Image Syndrome

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Disease Ontology:8 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.

MalaCards based summary: 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, and has symptoms including frontal bossing/prominent forehead, depressed nasal bridge and low set ears/posteriorly rotated ears. 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. Affiliated tissues include bone, testes and adrenal gland.

Description from OMIM:46 614732

GeneReviews summary for image

Aliases & Classifications for Image Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 20GeneTests, 48Orphanet, 62UMLS, 22GTR, 46OMIM, 26ICD10 via Orphanet
See all sources

Image Syndrome, Aliases & Descriptions:

Name: Image Syndrome 8 9 19 20 48
Intrauterine Growth Restriction 19 22 62
Metaphyseal Dysplasia 19 62
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 62
 
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 8
Intrauterine Growth Retardation - Metaphyseal Dysplasia - Adrenal Hypoplasia Congenita - Genital Anomalies 48
Adrenal Hypoplasia Congenita,genital Anomalies 19


Classifications:



Characteristics (Orphanet epidemiological data):

48
image syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050885
OMIM46 614732
ICD10 via Orphanet26 Q87.1

Related Diseases for Image Syndrome

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies30.5CDKN1C
2metaphyseal dysplasia11.1
3eclampsia10.8
4pre-eclampsia10.8
5placental insufficiency10.7
6endotheliitis10.6
7spondylo-megaepiphyseal-metaphyseal dysplasia10.6
8ulna metaphyseal dysplasia syndrome10.5
9oligohydramnios10.5
10thrombophilia10.5
11metaphyseal dysplasia without hypotrichosis10.5
12hellp syndrome10.4
13hypospadias10.4
14hypoxia10.4
15craniometaphyseal dysplasia10.4
16metaphyseal anadysplasia10.4
17metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.4
18hypertension10.4
19gastroschisis10.4
20metaphyseal dysplasia, braun-tinschert type10.3
21gestational diabetes10.3
22lissencephaly10.3
23microcephaly10.3
24polyhydramnios10.3
25thyroiditis10.3
26twin twin transfusion syndrome10.3
27short stature10.3
28mosaic trisomy 210.3
29brachydactyly10.3
30schmid metaphyseal chondrodysplasia10.3
31mckusick type metaphyseal dysplasia10.3
32pancreatitis10.3
33dwarfism10.3
34metaphyseal dysplasia maxillary hypoplasia brachydactyly10.3
35multiple joint dislocations metaphyseal dysplasia10.3
36verloes van maldergem marneffe syndrome10.3
37exocrine pancreatic insufficiency10.2
38osteopetrosis10.2
39cartilage-hair hypoplasia10.2
40schwachman diamond type metaphyseal dysplasia10.2
41jansen's metaphyseal chondrodysplasia10.2
42spondyloepimetaphyseal dysplasia, missouri type10.2
43optic atrophy10.2
44frontometaphyseal dysplasia10.2
45lead poisoning10.2
46autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
47atherosclerosis10.1
48diabetes mellitus10.1
49holoprosencephaly10.1
50neural tube defects10.1

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



Diseases related to image syndrome

Symptoms for Image Syndrome

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Clinical features from OMIM:

614732

Symptoms:

48 (show all 13)
  • frontal bossing/prominent forehead
  • depressed nasal bridge
  • low set ears/posteriorly rotated ears
  • short limbs/micromelia/brachymelia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • adrenal glands anomalies
  • late puberty/hypogonadism/hypogenitalism
  • hypotonia
  • anomalies of bones/skeletal anomalies
  • autosomal recessive inheritance
  • intrauterine growth retardation

HPO human phenotypes related to Image Syndrome:

(show all 10)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
3 abnormality of the adrenal glands hallmark (90%) HP:0000834
4 muscular hypotonia hallmark (90%) HP:0001252
5 intrauterine growth retardation hallmark (90%) HP:0001511
6 frontal bossing hallmark (90%) HP:0002007
7 micromelia hallmark (90%) HP:0002983
8 depressed nasal bridge hallmark (90%) HP:0005280
9 abnormality of the upper urinary tract hallmark (90%) HP:0010935
10 displacement of the external urethral meatus hallmark (90%) HP:0100627

Drugs & Therapeutics for Image Syndrome

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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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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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MalaCards organs/tissues related to Image Syndrome:

32
Bone, Testes, Adrenal gland

Animal Models for Image Syndrome or affiliated genes

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Publications for Image Syndrome

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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
7
IMAGe Syndrome (24624461)
1993

Variations for Image Syndrome

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Clinvar genetic disease variations for Image Syndrome:

6
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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Expression patterns in normal tissues for genes affiliated with Image Syndrome

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Pathways for genes affiliated with Image Syndrome

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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 cycle37
9.1CDKN1C, PCNA

Compounds for genes affiliated with Image Syndrome

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Sources:
44Novoseek
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Compounds related to Image Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine449.1CDKN1C, 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

Sources for Image Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet