English
Klinische FragestellungATP8B1-Defizienz, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für ATP8B1-Defizienz mit zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP9222
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 11 |
Untersuchte Sequenzlänge
3,8 kb (Core-/Core-canditate-Gene)
29,7 kb (Erweitertes Panel: inkl. additional genes)
29,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ATP8B1 | 3756 | NM_005603.6 | AR | |
| ABCB11 | 3966 | NM_003742.4 | AR | |
| ABCB4 | 3840 | NM_000443.4 | AR | |
| BAAT | 1257 | NM_001127610.2 | AR | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| EPHX1 | 1368 | NM_000120.4 | AR | |
| MYO5B | 5547 | NM_001080467.3 | AR | |
| SLC27A5 | 2073 | NM_012254.3 | AR | |
| TJP2 | 3063 | NM_004817.4 | AR, digenisch | |
| VIPAS39 | 1482 | NM_022067.4 | AR | |
| VPS33B | 1854 | NM_018668.5 | AR |
Infos zur Erkrankung
Synonyme
- Alias: FIC1 deficiency
- Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
- Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39 [VIPAR])
- Benign recurrent intrahepatic cholestasis type 1 (ATP8B1)
- Bile acid conjugation defect 1 (BAAT)
- Cholestasis [panelapp amber] (USP53)
- Cholestasis, benign recurrent intrahepatic (ATP8B1)
- Cholestasis, benign recurrent intrahepatic, 2 (ABCB11)
- Cholestasis, intrahepatic, of pregnancy, 1 (ATP8B1)
- Cholestasis, intrahepatic, of pregnancy, 3 (ABCB4)
- Cholestasis, progressive familial intrahepatic 1 (ATP8B1)
- Cholestasis, progressive familial intrahepatic 2 (ABCB11)
- Cholestasis, progressive familial intrahepatic 3 (ABCB4)
- Cholestasis, progressive familial intrahepatic 4 (TJP2)
- Cholestasis, progressive familial intrahepatic, 5 (NR1H4)
- Familial hypercholanemia [genereviews] (EPHX1)
- Familial hypercholanemia [genereviews] (SLV27A5)
- Gallbladder disease 1 (ABCB4)
- Hypercholanemia, familial (BAAT)
- Hypercholanemia, familial 1 (TJP2)
- Intrahepatic cholestasis of pregnancy (ABCB11, ABCB4, ATP8B1, NR1H4)
- Microvillus inclusion disease (MYO5B)
- Paediatric cholestatic liver disease [panelapp amber] (USP53)
- Progressive familial intrahepatic cholestasis type 1 [FIC1 deficiency] (ATP8B1, MYO5B)
- Smith-Lemli-Opitz syndrome (DHCR7)
Erbgänge, Vererbungsmuster etc.
- AR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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