Belgian Genetic Tests database- Diseases
- Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
| Name: |
Neonatal intrahepatic cholestasis due to citrin deficiency
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| Description: |
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
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| ORPHAcode: |
247598
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| Synonyms: |
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Cholestasis (40 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 100.00 1 Part of Gastro-pneumo panel ABCB4 100.00 1 Part of Gastro-pneumo panel AKR1D1 100.00 1 Part of Gastro-pneumo panel AMACR 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel BAAT 100.00 1 Part of Gastro-pneumo panel BCS1L 100.00 1 Part of Gastro-pneumo panel CC2D2A 100.00 1 Part of Gastro-pneumo panel CLDN1 100.00 1 Part of Gastro-pneumo panel CYP27A1 100.00 1 Part of Gastro-pneumo panel CYP7B1 100.00 1 Part of Gastro-pneumo panel DCDC2 100.00 1 Part of Gastro-pneumo panel DGUOK 100.00 1 Part of Gastro-pneumo panel HNF1B 100.00 1 Part of Gastro-pneumo panel HSD3B7 100.00 1 Part of Gastro-pneumo panel INVS 100.00 1 Part of Gastro-pneumo panel JAG1 100.00 1 Part of Gastro-pneumo panel MKS1 100.00 1 Part of Gastro-pneumo panel MPV17 100.00 1 Part of Gastro-pneumo panel NOTCH2 100.00 1 Part of Gastro-pneumo panel NPC1 100.00 1 Part of Gastro-pneumo panel NPC2 100.00 1 Part of Gastro-pneumo panel NPHP1 100.00 1 Part of Gastro-pneumo panel NPHP3 100.00 1 Part of Gastro-pneumo panel NPHP4 100.00 1 Part of Gastro-pneumo panel NR1H4 100.00 1 Part of Gastro-pneumo panel PKHD1 100.00 1 Part of Gastro-pneumo panel PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918 POLG 100.00 1 Part of Gastro-pneumo panel SLC25A13 100.00 1 Part of Gastro-pneumo panel SMPD1 100.00 1 Part of Gastro-pneumo panel TALDO1 100.00 1 Part of Gastro-pneumo panel TJP2 100.00 1 Part of Gastro-pneumo panel TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926 TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738 TMEM216 100.00 1 Part of Gastro-pneumo panel TRMU 100.00 1 Part of Gastro-pneumo panel UGT1A1 100.00 1 Part of Gastro-pneumo panel VIPAS39 100.00 1 Part of Gastro-pneumo panel VPS33B 100.00 1 Part of Gastro-pneumo panel -
Metabolic diseases with hepatic disorders (20 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATP7B 100.00 1 Part of Custom Gastro-pneumo panel CPT1A 100.00 1 Part of Custom Gastro-pneumo panel CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel DGUOK 100.00 1 Part of Custom Gastro-pneumo panel DHCR7 100.00 1 Part of Custom Gastro-pneumo panel EHHADH 100.00 1 Part of Custom Gastro-pneumo panel GBE1 100.00 1 Part of Custom Gastro-pneumo panel GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9 GUSB 100.00 1 Part of Custom Gastro-pneumo panel LIPA 100.00 1 Part of Custom Gastro-pneumo panel MPV17 100.00 1 Part of Custom Gastro-pneumo panel NEU1 100.00 1 Part of Custom Gastro-pneumo panel NPC1 100.00 1 Part of Custom Gastro-pneumo panel NPC2 100.00 1 Part of Custom Gastro-pneumo panel POLG 100.00 1 Part of Custom Gastro-pneumo panel SI 100.00 1 Part of Custom Gastro-pneumo panel SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel SMPD1 100.00 1 Part of Custom Gastro-pneumo panel TALDO1 100.00 1 Part of Custom Gastro-pneumo panel TRMU 100.00 1 Part of Custom Gastro-pneumo panel