MCID: IMG001
MIFTS: 39

Image Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Image Syndrome

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OMIM:45 IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia,... (614732) more...

MalaCards based summary: Image Syndrome, also known as intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, is related to eclampsia and pre-eclampsia, and has symptoms including cryptorchidism, low-set, posteriorly rotated ears and abnormality of the adrenal glands. 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, adrenal gland and testes.

Disease Ontology:9 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 summary for image

Aliases & Classifications for Image Syndrome

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Image Syndrome, Aliases & Descriptions:

Name: Image Syndrome 45 9 10 19 41 20 47
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 45 41 60
Intrauterine Growth Retardation - Metaphyseal Dysplasia - Adrenal Hypoplasia Congenita - Genital Anomalies 41 47 22
Intrauterine Growth Restriction 19 22
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 9
 
Adrenal Hypoplasia Congenita,genital Anomalies 19
Pyle Metaphyseal Dysplasia 60
Fetal Growth Retardation 60
Metaphyseal Dysplasia 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
image syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 614732
Disease Ontology9 DOID:0050885
Orphanet47 85173
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 Suite gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1eclampsia10.8
2pre-eclampsia10.8
3metaphyseal dysplasia10.7
4placental insufficiency10.7
5endotheliitis10.6
6spondylo-megaepiphyseal-metaphyseal dysplasia10.6
7ulna metaphyseal dysplasia syndrome10.5
8oligohydramnios10.5
9thrombophilia10.5
10metaphyseal dysplasia without hypotrichosis10.5
11hypospadias10.4
12hellp syndrome10.4
13hypoxia10.4
14metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.4
15craniometaphyseal dysplasia10.4
16metaphyseal anadysplasia10.4
17metaphyseal dysplasia maxillary hypoplasia brachydactyly10.4
18gastroschisis10.4
19autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.4
20mckusick type metaphyseal dysplasia10.3
21multiple joint dislocations metaphyseal dysplasia10.3
22metaphyseal dysplasia, braun-tinschert type10.3
23insulin-like growth factor i10.3
24miller-dieker lissencephaly syndrome10.3
25microcephaly10.3
26polyhydramnios10.3
27lissencephaly10.3
28thyroiditis10.3
29metaphyseal chondrodysplasia, schmid type10.3
30cartilage-hair hypoplasia10.3
31schwachman diamond type metaphyseal dysplasia10.3
32pancreatitis10.3
33dwarfism10.3
34verloes van maldergem marneffe syndrome10.3
35frontometaphyseal dysplasia10.2
36metaphyseal chondrodysplasia, murk jansen type10.2
37exocrine pancreatic insufficiency10.2
38osteopetrosis10.2
39brachydactyly10.2
40metaphyseal dysostosis mental retardation conductive deafness10.2
41spondyloepimetaphyseal dysplasia micromelic10.2
42schizophrenia10.1
43chromosome 1p32-p31 deletion syndrome10.1
44neural tube defects10.1
45silver-russell syndrome10.1
46obesity10.1
47neu-laxova syndrome110.1
48twin-to-twin transfusion syndrome10.1
49atherosclerosis10.1
50holoprosencephaly10.1

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



Diseases related to image syndrome

Symptoms for Image Syndrome

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Symptoms by clinical synopsis from OMIM:

614732

Clinical features from OMIM:

614732

Symptoms:

 47 (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 29)
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
11 macrocephaly rare (5%) HP:0000256
12 global developmental delay rare (5%) HP:0001263
13 autosomal dominant inheritance HP:0000006
14 cryptorchidism HP:0000028
15 hypospadias HP:0000047
16 micropenis HP:0000054
17 low-set ears HP:0000369
18 growth hormone deficiency HP:0000824
19 adrenal hypoplasia HP:0000835
20 intrauterine growth retardation HP:0001511
21 hypercalciuria HP:0002150
22 epiphyseal dysplasia HP:0002656
23 delayed skeletal maturation HP:0002750
24 hypercalcemia HP:0003072
25 short nose HP:0003196
26 depressed nasal bridge HP:0005280
27 postnatal growth retardation HP:0008897
28 prominent forehead HP:0011220
29 metaphyseal dysplasia HP:0100255

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 Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies22
3 Intrauterine Growth Restriction22

Anatomical Context for Image Syndrome

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MalaCards organs/tissues related to Image Syndrome:

31
Bone, Adrenal gland, Testes

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
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? (25541901)
2014
2
Anesthetic and dental management of a child with IMAGe syndrome. (25517553)
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

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

62
id Symbol AA change Variation ID SNP ID
1CDKN1Cp.Asp274AsnVAR_068848
2CDKN1Cp.Phe276SerVAR_068849
3CDKN1Cp.Phe276ValVAR_068850
4CDKN1Cp.Lys278GluVAR_068851
5CDKN1Cp.Arg279ProVAR_068852

Clinvar genetic disease variations for Image Syndrome:

6
id Gene Variation 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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Search GEO for disease gene expression data for Image Syndrome.

Pathways for genes affiliated with Image Syndrome

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

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 cycle36
9.1CDKN1C, PCNA

Compounds for genes affiliated with Image Syndrome

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Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine439.1CDKN1C, 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
  • Proteins
  • Kits and Assays

Sources for Image Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet