English
Klinische FragestellungIMAGe-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für IMAGe-Syndrom mit zusammen genommen 12 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
IP5221
Anzahl Gene
12
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,0 kb (Core-/Core-canditate-Gene)
34,1 kb (Erweitertes Panel: inkl. additional genes)
34,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CDKN1C | 951 | NM_000076.2 | AD | |
| CCDC8 | 1617 | NM_032040.5 | AR | |
| CUL7 | 5097 | NM_014780.5 | AR | |
| CYP11B1 | 1512 | NM_000497.4 | AD, AR | |
| CYP17A1 | 1527 | NM_000102.4 | AR | |
| CYP21A2 | 1488 | NM_000500.9 | AR | |
| HSD3B2 | 1119 | NM_000198.4 | AR | |
| NR0B1 | 1413 | NM_000475.5 | XL | |
| OBSL1 | 5691 | NM_015311.3 | AR | |
| POLE | 6861 | NM_006231.4 | AR | |
| POR | 2043 | NM_001395413.1 | AR | |
| SAMD9 | 4770 | NM_001193307.2 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Intrauterine Wachstumsretardierung, metaphysäre Dysplasie, angeborene Nebennierenhypoplasie, Genitalanomaliensyndrom; dysmorphe Merkmale (Balkenstirn, breiter Nasenrücken, tief angesetzte Ohren); bei Jungen bilateraler Kryptorchismus, Hypospadie, Mikropenis, hypogonadotroper Hypogonadismus
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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