MCID: INT324
MIFTS: 35

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

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

Aliases & Classifications for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

MalaCards integrated aliases for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

Name: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 57 75 29 6 73
Image Syndrome 57 12 24 53 59 75 13 15
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome 53 59
Intrauterine Growth Restriction 24 29
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities 12
Adrenal Hypoplasia Congenita,genital Anomalies 24
Pyle Metaphyseal Dysplasia 73
Fetal Growth Retardation 73
Metaphyseal Dysplasia 24
Image 75

Characteristics:

Orphanet epidemiological data:

59
image syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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:



Summaries for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85173Disease definitionIMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, also known as image syndrome, is related to pyle disease and spondylo-megaepiphyseal-metaphyseal dysplasia. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include bone, and related phenotypes are low-set ears and frontal bossing

OMIM : 57 IMAGE syndrome is a rare multisystem disorder 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 steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by Balasubramanian et al., 2010). (614732)

UniProtKB/Swiss-Prot : 75 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.

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 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Graphical network of the top 20 diseases related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:



Diseases related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Symptoms & Phenotypes for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
prominent forehead

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Laboratory Abnormalities:
hypercalciuria
hypercalcemia

Endocrine Features:
growth hormone deficiency
adrenal hypoplasia, congenital
adrenal crisis in neonatal period

Genitourinary Internal Genitalia Female:
normal

Neurologic Central Nervous System:
developmental delay (in some patients)

Head And Neck Nose:
short nose
flat nasal bridge

Skeletal:
epiphyseal dysplasia
metaphyseal dysplasia
delayed bone age

Growth:
intrauterine growth retardation
postnatal growth failure

Genitourinary External Genitalia Male:
hypospadias
micropenis

Genitourinary External Genitalia Female:
normal

Head And Neck Head:
macrocephaly (in some patients)

Genitourinary Kidneys:
renal calcification (in some patients)


Clinical features from OMIM:

614732

Human phenotypes related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
9 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
10 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
11 adrenal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000835
12 metaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100255
13 macrocephaly 32 occasional (7.5%) HP:0000256
14 global developmental delay 32 occasional (7.5%) 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 59 Very frequent (99-80%)
23 micropenis 32 HP:0000054
24 growth hormone deficiency 32 HP:0000824

Drugs & Therapeutics for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Search Clinical Trials , NIH Clinical Center for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Genetic Tests for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Genetic tests related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

# Genetic test Affiliating Genes
1 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 29 CDKN1C
2 Intrauterine Growth Restriction 29

Anatomical Context for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

MalaCards organs/tissues related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

41
Bone

Publications for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Articles related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

(show all 11)
# Title Authors Year
1
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. ( 29506479 )
2018
2
Anesthetic and dental management of a child with IMAGe syndrome. ( 25517553 )
2014
3
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? ( 25541901 )
2014
4
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. ( 24313804 )
2013
5
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. ( 24098681 )
2013
6
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. ( 22634751 )
2012
7
IMAGe syndrome: Case report with a previously unreported feature and review of published literature. ( 21108398 )
2010
8
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. ( 16835919 )
2006
9
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. ( 14760276 )
2004
10
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. ( 10599684 )
1999
11
IMAGe Syndrome ( 24624461 )
1993

Variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

UniProtKB/Swiss-Prot genetic disease variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

75
# 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 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies:

6
(show all 16)
# 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.826T> G (p.Phe276Val) single nucleotide variant Pathogenic rs387907223 GRCh38 Chromosome 11, 2884129: 2884129
3 CDKN1C NM_000076.2(CDKN1C): c.827T> C (p.Phe276Ser) single nucleotide variant Pathogenic rs387907224 GRCh37 Chromosome 11, 2905358: 2905358
4 CDKN1C NM_000076.2(CDKN1C): c.827T> C (p.Phe276Ser) single nucleotide variant Pathogenic rs387907224 GRCh38 Chromosome 11, 2884128: 2884128
5 CDKN1C NM_000076.2(CDKN1C): c.836G> C (p.Arg279Pro) single nucleotide variant Pathogenic rs318240750 GRCh37 Chromosome 11, 2905349: 2905349
6 CDKN1C NM_000076.2(CDKN1C): c.836G> C (p.Arg279Pro) single nucleotide variant Pathogenic rs318240750 GRCh38 Chromosome 11, 2884119: 2884119
7 CDKN1C NM_000076.2(CDKN1C): c.820G> A (p.Asp274Asn) single nucleotide variant Pathogenic rs387907225 GRCh37 Chromosome 11, 2905900: 2905900
8 CDKN1C NM_000076.2(CDKN1C): c.820G> A (p.Asp274Asn) single nucleotide variant Pathogenic rs387907225 GRCh38 Chromosome 11, 2884670: 2884670
9 CDKN1C NM_000076.2(CDKN1C): c.832A> G (p.Lys278Glu) single nucleotide variant Pathogenic rs387907226 GRCh37 Chromosome 11, 2905353: 2905353
10 CDKN1C NM_000076.2(CDKN1C): c.832A> G (p.Lys278Glu) single nucleotide variant Pathogenic rs387907226 GRCh38 Chromosome 11, 2884123: 2884123
11 CDKN1C NM_000076.2(CDKN1C): c.815T> G (p.Ile272Ser) single nucleotide variant Pathogenic rs515726203 GRCh38 Chromosome 11, 2884675: 2884675
12 CDKN1C NM_000076.2(CDKN1C): c.815T> G (p.Ile272Ser) single nucleotide variant Pathogenic rs515726203 GRCh37 Chromosome 11, 2905905: 2905905
13 CDKN1C NM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu) single nucleotide variant Pathogenic rs318240750 GRCh38 Chromosome 11, 2884119: 2884119
14 CDKN1C NM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu) single nucleotide variant Pathogenic rs318240750 GRCh37 Chromosome 11, 2905349: 2905349
15 CDKN1C NM_000076.2(CDKN1C): c.842G> T (p.Arg281Ile) single nucleotide variant Pathogenic rs886037912 GRCh38 Chromosome 11, 2884113: 2884113
16 CDKN1C NM_000076.2(CDKN1C): c.842G> T (p.Arg281Ile) single nucleotide variant Pathogenic rs886037912 GRCh37 Chromosome 11, 2905343: 2905343

Expression for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Search GEO for disease gene expression data for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies.

Pathways for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

GO Terms for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

Sources for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

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