MCID: INT338
MIFTS: 15

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

Categories: Endocrine diseases, Genetic diseases, Immune 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 58 6
Image-I Syndrome 58
Imagei Syndrome 58
Imagei 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618336

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

OMIM : 58 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)

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). Affiliated tissues include pituitary, t cells and nk cells.

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears

Skeletal Skull:
microcephaly

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

Genitourinary External Genitalia Male:
hypospadias
micropenis (rare)

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

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

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)

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
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
long nose
thin nose

Endocrine Features:
growth hormone deficiency
congenital adrenal hypoplasia

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

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...

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:

42
Pituitary, T Cells, Nk Cells

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

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 Variation Type Significance SNP ID Assembly Location
1 POLE NM_006231.3(POLE): c.1A> T (p.Met1Leu) single nucleotide variant Uncertain significance rs878854847 GRCh37 Chromosome 12, 133263901: 133263901
2 POLE NM_006231.3(POLE): c.1A> T (p.Met1Leu) single nucleotide variant Uncertain significance rs878854847 GRCh38 Chromosome 12, 132687315: 132687315
3 POLE NM_006231.3(POLE): c.3019G> C (p.Ala1007Pro) single nucleotide variant Uncertain significance rs747692201 GRCh37 Chromosome 12, 133237596: 133237596
4 POLE NM_006231.3(POLE): c.3019G> C (p.Ala1007Pro) single nucleotide variant Uncertain significance rs747692201 GRCh38 Chromosome 12, 132661010: 132661010
5 POLE NM_006231.3(POLE): c.5265del (p.Ile1756Serfs) deletion Uncertain significance rs1555222342 GRCh37 Chromosome 12, 133218346: 133218346
6 POLE NM_006231.3(POLE): c.5265del (p.Ile1756Serfs) deletion Uncertain significance rs1555222342 GRCh38 Chromosome 12, 132641760: 132641760
7 POLE NM_006231.3(POLE): c.2049C> G (p.Tyr683Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 133245066: 133245066
8 POLE NM_006231.3(POLE): c.2049C> G (p.Tyr683Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 132668480: 132668480
9 POLE NM_006231.3(POLE): c.1686+32C> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 133249181: 133249181
10 POLE NM_006231.3(POLE): c.1686+32C> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 132672595: 132672595

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...

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

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

3 CDC
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75 UMLS via Orphanet
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