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IllnessZitrullinämie Typ II, Differentialdiagnose

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Summary

Short information

Curated single gene analysis for Citrullinemia type II

ID
CP9240
Number of loci
Loci typeCount
Gen2
Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
3,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLC25A132031NM_001160210.2AR
GALT1140NM_000155.4AR

Informations about the disease

Synonyms
  • Alias: Citrin-Mangel mit Beginn im Erwachsenenalter Citrullinämie Typ II
  • Alias: Zitrullinämie Typ 2
  • Alias: Zitrullinämie mit Beginn im Erwachsenenalter, Typ 2
  • Alias: Zitrullinämie mit Beginn im Erwachsenenalter, Typ II
  • Alias: Zitrullinämie, adulte, Typ 2
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • Argininosuccinic aciduria (ASL)
  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Cholestasis, benign recurrent intrahepatic (ATP8B1)
  • Cholestasis, benign recurrent intrahepatic, 2 (ABCB11)
  • Cholestasis, intrahepatic, of pregnancy, 1 (ATP8B1)
  • Cholestasis, progressive familial intrahepatic 1 (ATP8B1)
  • Cholestasis, progressive familial intrahepatic 2 (ABCB11)
  • Citrullinemia (ASS1)
  • Citrullinemia, adult-onset type II (SLC25A13)
  • Citrullinemia, type II, neonatal-onset (SLC25A13)
  • Dubin-Johnson syndrome (ABCC2)
  • Galactosemia (GALT)
  • Lysinuric protein intolerance (SLC7A7)
  • Ornithine transcarbamylase deficiency (OTC)
  • Pyruvate carboxylase deficiency (PC)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined