Deutsch
IllnessCrigler-Najjar-Syndrom Typ I, unkonjugierte Hyperbilirubinämie
Summary
Short information
MS5121_KI
ID
MS5121
Number of loci
| Loci type | Count |
|---|---|
| Gen | 1 |
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| UGT1A1 | 1602 | NM_000463.3 | AR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_MS5121
Synonyms
- Def.: Crigler-Najjar syndrome type I: total serum bilirubin 20-45mg/dL [complete UGT1A1 deficiency]
- Def.: Crigler-Najjar syndrome type II: total serum bilirubin 6-20mg/dL [partial UGT1A1 deficiency]
- Def.: Meulengracht/Gilbert syndrome: total serum bilirubin 1-6mg/dL [UGT1A1 promotor deficiency]
- Alias: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 (UGT1A1)
- Alias: Bilirubin-UGT deficiency type 1 (UGT1A1)
- Alias: Familial nonhemolytic unconjugated hyperbilirubinemia (UGT1A1)
- Alias: Hereditary unconjugated hyperbilirubinemia type 1 (UGT1A1)
- Alias: Hyperbilirubinaemia, familial transient neonatal (UGT1A1)
- Alias: UGT deficiency type 1 (UGT1A1)
- Allelic: Arias syndrome (UGT1A1)
- Allelic: Crigler-Najjar syndrome, type II (UGT1A1)
- Allelic: Gilbert [Gilbert-Meulengracht] syndrome (UGT1A1)
- Crigler-Najjar syndrome, type I (UGT1A1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined