×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CTD_human
Human hereditary tyrosinemia type I (HT1 ), caused by mutations in the FAH gene, is an autosomal recessive disorder in which the patient usually dies of liver fibrosis and cirrhosis during early childhood; NTBC treatment is known to prolong HT1 children's lives-although liver fibrosis, cirrhosis, hepatocarcinoma, and corneal opacities sometimes occur.
12899938 2003
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CTD_human
We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients.
23895425 2014
×
Entrez Id: 3242
Gene Symbol: HPD
HPD
Tyrosinemia, Type I
0.360
Biomarker
CTD_human
×
Entrez Id: 6898
Gene Symbol: TAT
TAT
Tyrosinemia, Type I
0.300
Biomarker
CTD_human
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I .
7977370 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
The patient, currently aged 12 years, shows a normal physical and psychomotor development.This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.
20003495 2009
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
7550234 1995
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Tyrosinemia type I , the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH ).11476670 2001
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
We investigated the molecular basis of FAH deficiency in a hereditary tyrosinemia type 1 patient whose liver FAH showed a very low enzymatic activity.
8364576 1993
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.
11278491 2001
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Hereditary tyrosinemia type 1 : novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.8557261 1996
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients.
9633815 1998
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
11196105 2000
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997 1993
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase .
8005583 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1 .
7942842 1994
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
1401056 1992
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Two novel mutations involved in hereditary tyrosinemia type I.
7757089 1995
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
15759101 2005
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997 1993
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
These results demonstrate the strong selective advantage of FAH -expressing cells in an FAH -deficient liver but also illustrate the danger of carcinomas arising from FAH -deficient hepatocytes in HT1 .
9095403 1997
×
Entrez Id: 2184
Gene Symbol: FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I ).
2378356 1990