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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessTyrosinaemia type I-III, differential diagnosis

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Summary

Short information

A guideline-curated and altogether 19 curated gene sequence analyses according to the clinical suspicion Tyrosinaemia type I-III

ID
TP0440
Number of genes
19 Accredited laboratory test
Examined sequence length
3,9 kb (Core-/Core-canditate-Genes)
34,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FAH1260NM_000137.4AR
HPD1182NM_002150.3AR
TAT1365NM_000353.3AR
ALDOB1095NM_000035.4AR
ALPL1575NM_000478.6AR, AD
ATP7B4398NM_000053.4AR
CBS1656NM_000071.3AR
CTNS1203NM_001031681.3AR
FBP11017NM_000507.4AR
GALT1140NM_000155.4AR
HMBS1086NM_000190.4AD
NPC13837NM_000271.5AR
OCRL2706NM_000276.4XLR
PHEX2250NM_000444.6XL
PRF11668NM_001083116.3AR
STX11864NM_003764.4AR
STXBP21773NM_006949.4AR
TALDO11014NM_006755.2AR
UNC13D3273NM_199242.3AR

Informations about the disease

Clinical Comment

Inborn errors of tyrosine catabolism caused by defective enzymatic activity, partly dramatic improvement in prognosis following treatment with nitisinone

Tyrosinemia type 1 (ORPHA:882): inborn error of tyrosine catabolism due to defective fumarylacetoacetate hydrolase (FAH), characterized by progressive liver disease

Tyrosinemia type 2 (ORPHA:28378): inborn error of tyrosine metabolism with hypertyrosinemia, oculocutaneous manifestations, in some cases, intellectual deficit

Tyrosinemia type 3 (ORPHA:69723): inborn error of tyrosine metabolism with mild hypertyrosinemia, increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, 4-hydroxyphenylacetate, porphyria-like crises, dramatic improvement in prognosis following treatment with nitisinone

 

Synonyms
  • Alias: Fumarylacetoacetase [FAH] deficiency
  • Alias: Fumarylacetoacetate hydrolase [FAH] deficiency
  • Alias: Hepatorenal tyrosinemia, included
  • Alias: Keratosis palmoplantaris-corneal dystrophy syndrome, included
  • Alias: Oculocutaneous tyrosinemia, included
  • Alias: Richner-Hanhart syndrome, included
  • Alias: Tyrosinemia due to tyrosine aminotransferase [TAT] deficiency
  • Alias: Tyrosinemia, type I-III
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Hawkinsinuria (HPD)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Cystinosis, atypical nephropathic (CTNS)
  • Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
  • Cystinosis, nephropathic (CTNS)
  • Cystinosis, ocular nonnephropathic (CTNS)
  • Dent disease 2 (OCRL)
  • Fructose intolerance, hereditary (ALDOB)
  • Fructose-1,6-bisphosphatase deficiency (FBP1)
  • Galactosemia (GALT)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5, with/-out microvillus inclusion disease ((STXBP2)
  • Homocystinuria, B6-responsive + nonresponsive types ((CBS)
  • Hypophosphatasia, adult (ALPL)
  • Hypophosphatasia, childhood (ALPL)
  • Hypophosphatasia, infantile (ALPL)
  • Hypophosphatemic rickets, XLD (PHEX)
  • Lowe syndrome (OCRL)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type D (NPC1)
  • Odontohypophosphatasia (ALPL)
  • Porphyria, acute intermittent (HMBS)
  • Porphyria, acute intermittent, nonerythroid variant (HMBS)
  • Thrombosis, hyperhomocysteinemic (CBS)
  • Transaldolase deficiency (TALDO1)
  • Tyrosinemia type I (FAH)
  • Tyrosinemia, type II (TAT)
  • Tyrosinemia, type III (HPD)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined