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IllnessATP8B1 deficiency, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for ATP8B1 deficiency comprising altogether 13 curated genes according to the clinical signs
ID
AP9222
Number of genes
11
Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
29,7 kb (Extended panel: incl. additional genes)
29,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| 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 |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined