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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessIMAGe syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for IMAGe syndrome comprising altogether 12 curated genes according to the clinical signs

ID
IP5221
Number of genes
12 Accredited laboratory test
Examined sequence length
1,0 kb (Core-/Core-canditate-Genes)
34,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDKN1C951NM_000076.2AD
CCDC81617NM_032040.5AR
CUL75097NM_014780.5AR
CYP11B11512NM_000497.4AD, AR
CYP17A11527NM_000102.4AR
CYP21A21488NM_000500.9AR
HSD3B21119NM_000198.4AR
NR0B11413NM_000475.5XL
OBSL15691NM_015311.3AR
POLE6861NM_006231.4AR
POR2043NM_001395413.1AR
SAMD94770NM_001193307.2AD

Informations about the disease

Clinical Comment

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenital, genital anomalies syndrome; dysmorphic features (frontal bossing, broad nasal bridge, low-set ears); boys bilateral cryptorchidism, hypospadias, micropenis, hypogonadotropic hypogonadism

 

Synonyms
  • Sy: Intrauterine growth retard.-Metaphyseal dysplasia-Adrenal hypoplasia congen.-Genital anomalies
  • Allelic: Beckwith-Wiedemann syndrome
  • 17,20-lyase deficiency, isolated (CYP17A1)
  • 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
  • 3-M syndrome 1 (CUL7)
  • 3-M syndrome 2 (OBSL1)
  • 3-M syndrome 3 (CCDC8)
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYp21A2)
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
  • Allelic: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • IMAGE syndrome (CDKN1C)
  • IMAGE-I syndrome (POLE)
  • MIRAGE syndr.; Myelodyspl., Infect., growth Restr., Adren. hypopl., Genit. phenot., Enterop. (SAMD9)
  • Silver-Russel syndrome [GeneReviews] (CDKN1C)
  • Silver-Russell syndrome 3 (IGF2)
  • Silver-Russell syndrome 4 (PLAG1)
  • Silver-Russell syndrome 5 (HMGA2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined