IMAGEI
MCID: INT338
MIFTS: 25

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency (IMAGEI)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Reproductive diseases

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

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

Name: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 57 72 29 6
Image-I Syndrome 57 36
Imagei 57 72
Imagei Syndrome 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM® : 57 IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency (Logan et al., 2018). An autosomal dominant form of the disorder, without immunodeficiency (IMAGE; 614732), is caused by mutation in the CDKN1C gene (600856) on chromosome 11p15. (618336) (Updated 05-Apr-2021)

MalaCards based summary : Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency, is also known as image-i syndrome. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency is POLE (DNA Polymerase Epsilon, Catalytic Subunit), and among its related pathways/superpathways are DNA replication and Base excision repair. Affiliated tissues include nk cells and pituitary, and related phenotypes are frontal bossing and osteopenia

KEGG : 36 IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It has been reported that mutations in POLE cause IMAGE-I. POLE encodes the catalytic subunit of DNA polymerase epsilon.

UniProtKB/Swiss-Prot : 72 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency: An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections.

Related Diseases for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal...

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

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 osteopenia 31 very rare (1%) HP:0000938
3 micropenis 31 very rare (1%) HP:0000054
4 t-cell lymphoma 31 very rare (1%) HP:0012190
5 hodgkin lymphoma 31 very rare (1%) HP:0012189
6 scoliosis 31 HP:0002650
7 short neck 31 HP:0000470
8 microtia 31 HP:0008551
9 microcephaly 31 HP:0000252
10 immunodeficiency 31 HP:0002721
11 intrauterine growth retardation 31 HP:0001511
12 micrognathia 31 HP:0000347
13 low-set ears 31 HP:0000369
14 broad neck 31 HP:0000475
15 hypospadias 31 HP:0000047
16 eczema 31 HP:0000964
17 decreased body weight 31 HP:0004325
18 long nose 31 HP:0003189
19 feeding difficulties 31 HP:0011968
20 posteriorly rotated ears 31 HP:0000358
21 severe short stature 31 HP:0003510
22 relative macrocephaly 31 HP:0004482
23 metaphyseal dysplasia 31 HP:0100255
24 clinodactyly 31 HP:0030084
25 bilateral cryptorchidism 31 HP:0008689
26 narrow nose 31 HP:0000460
27 congenital adrenal hypoplasia 31 HP:0008244
28 seizure 31 HP:0001250
29 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck
wide neck

Immunology:
immunodeficiency
increased infections
low cd3+/cd8+ cells (in some patients)
low cd19+ cells (in some patients)
low nk cells (in some patients)
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears

Head And Neck Nose:
long nose
thin nose

Head And Neck Head:
relative macrocephaly
microcephaly (mean, -5.4 sd)

Endocrine Features:
growth hormone deficiency
congenital adrenal hypoplasia

Head And Neck Teeth:
crowded dentition

Neurologic Central Nervous System:
seizures (uncommon)
pituitary hypoplasia

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal Spine:
scoliosis (uncommon)

Skeletal Hands:
clinodactyly (uncommon)

Neoplasia:
t-cell lymphoma (rare)
hodgkin lymphoma (rare)

Skeletal Skull:
microcephaly

Head And Neck Face:
micrognathia
frontal bossing (in some patients)

Genitourinary External Genitalia Male:
hypospadias
micropenis (rare)

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Limbs:
metaphyseal dysplasia
small or absent patella (uncommon)

Growth Weight:
low weight

Skeletal:
osteopenia (in some patients)

Growth Other:
intrauterine growth retardation (iugr)
pre- and postnatal growth failure

Growth Height:
short stature, severe (mean, -8.1 sd)

Skeletal Pelvis:
developmental dysplasia of the hip

Skin Nails Hair Skin:
cafe-au-lait patches (in some patients)
eczema (uncommon)
livedo, intermittent (rare)

Clinical features from OMIM®:

618336 (Updated 05-Apr-2021)

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

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

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

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

# Genetic test Affiliating Genes
1 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 29 POLE

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

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

40
Nk Cells, Pituitary

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

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

# Title Authors PMID Year
1
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. 6 57
30503519 2018
2
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. 6 57
16835919 2006
3
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. 6 57
14760276 2004

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

ClinVar genetic disease variations for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.3(POLE):c.1686+32C>G SNV Pathogenic 619085 rs762985435 GRCh37: 12:133249181-133249181
GRCh38: 12:132672595-132672595
2 POLE NM_006231.3(POLE):c.5265del (p.Ile1756fs) Deletion Pathogenic 473720 rs1555222342 GRCh37: 12:133218346-133218346
GRCh38: 12:132641760-132641760
3 POLE NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) SNV Pathogenic 405620 rs747692201 GRCh37: 12:133237596-133237596
GRCh38: 12:132661010-132661010
4 POLE NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter) SNV Pathogenic 581857 rs1196356920 GRCh37: 12:133245066-133245066
GRCh38: 12:132668480-132668480
5 POLE NM_006231.4(POLE):c.1A>T (p.Met1Leu) SNV Pathogenic 240415 rs878854847 GRCh37: 12:133263901-133263901
GRCh38: 12:132687315-132687315
6 POLE NM_006231.4(POLE):c.2551G>A (p.Glu851Lys) SNV Uncertain significance 982772 GRCh37: 12:133240966-133240966
GRCh38: 12:132664380-132664380

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

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

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

Pathways related to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency according to KEGG:

36
# Name Kegg Source Accession
1 DNA replication hsa03030
2 Base excision repair hsa03410
3 Nucleotide excision repair hsa03420

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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