ErkrankungWT1-Erkrankung; DD Störungen der Testes-Entwicklung + DSD
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD Störungen der Testes-Entwicklung + DSD] mit zusammen genommen 24 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP0042
Anzahl Gene
23
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
40,9 kb (Erweitertes Panel)
40,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus | |
AKR1C2 | 420 | AR | |
AKR1C4 | 972 | AR | |
ANOS1 | 2043 | XLR | |
AR | 2763 | XLR und/oder SMu | |
ATRX | 7479 | XL und/oder SMu und/oder Impr | |
CBX2 | 1599 | AR | |
CYP11A1 | 1566 | AR | |
CYP17A1 | 1527 | AR | |
DHCR7 | 1428 | AR | |
DHH | 1191 | AR | |
DMRT1 | 1122 | AD | |
GATA4 | 1329 | AD | |
HSD17B3 | 933 | AR | |
HSD3B2 | 1119 | AR | |
LHCGR | 2100 | AD und/oder AR | |
MAP3K1 | 4539 | AD | |
NR5A1 | 1386 | AD und/oder AR | |
POR | 2043 | AR | |
SOX9 | 1530 | AD | |
SRD5A2 | 764 | AR | |
SRY | 615 | XL/YL | |
STAR | 858 | AR |
Infos zur Erkrankung
Synonyme
- Wilms tumor, type 1 (WT1)
- Denys-Drash syndrome (WT1)
- Frasier syndrome (WT1)
- Meacham syndrome (WT1)
- Mesothelioma, somatic (WT1)
- Nephrotic syndrome, type 4 (WT1)
- 17,20-lyase deficiency, isolated (CYp17A1)
- 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
- 46XX sex reversal 1 (SRY)
- 46XX sex reversal 4 (NR5A1)
- 46XY disorder of testicular development [genereviews] (DMRT1)
- 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
- 46XY sex reversal 1 (SRY)
- 46XY sex reversal 3 (NR5A1)
- 46XY sex reversal 5 (CBX2)
- 46XY sex reversal 6 (MAP3K1)
- 46XY sex reversal 7 (DHH)
- 46XY sex reversal 8 (AKR1C2)
- 46XY sex reversal 8, modifier of (AKR1C4)
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
- Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
- Adrenocortical insufficiency (NR5A1)
- Allelic: Acampomelic campomelic dysplasia (SOX9)
- Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
- Allelic: Campomelic dysplasia (SOX9)
- Allelic: Tetralogy of Fallot (GATA4)
- Androgen insensitivity (AR)
- Androgen insensitivity, partial, with/-out breast cancer (AR)
- Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
- Campomelic dysplasia with autosomal sex reversal (SOX9)
- Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
- Hypospadias 1, XL (AR)
- Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
- Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
- Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
- Lipoid adrenal hyperplasia (STAR)
- Luteinizing hormone resistance, female (LHCGR)
- Mental retardation-hypotonic facies syndrome, XL (ATRX)
- Partington syndrome (ARX)
- Precocious puberty, male (LHCGR)
- Proud syndrome (ARX)
- Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
- Pseudovaginal perineoscrotal hypospadias (SRD5A2)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Spinal + bulbar muscular atrophy of Kennedy (AR)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Dig und/oder SMu und/oder Sus
- AR
- XL und/oder SMu und/oder Impr
- XL/YL
- XLR
- XLR und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatik und klinische Interpretation
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