TYRSN1
MCID: TYR012
MIFTS: 67

Tyrosinemia, Type I (TYRSN1)

Categories: Cancer diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Tyrosinemia, Type I

MalaCards integrated aliases for Tyrosinemia, Type I:

Name: Tyrosinemia, Type I 57 36 71
Tyrosinemia Type I 11 24 19 58 73 28 53 5 14 75
Hepatorenal Tyrosinemia 57 11 24 19 58 75 73
Fumarylacetoacetase Deficiency 57 24 19 58 73
Fah Deficiency 57 24 19 58 73
Fumarylacetoacetate Hydrolase Deficiency 24 58
Tyrosinemia Type 1 19 58
Tyrsn1 57 73
Fumarylacetoacetase 12
Tyrosinemia 1 73

Characteristics:


Inheritance:

Tyrosinemia, Type I: Autosomal recessive 57
Tyrosinemia Type 1: Autosomal recessive 58

Prevelance:

Tyrosinemia Type 1: 1-9/1000000 (Worldwide) 1-9/100000 (Finland, Tunisia, Specific population) 1-5/10000 (Specific population) 58

Age Of Onset:

Tyrosinemia Type 1: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
unusual cabbage-like odor
symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Tyrosinemia, Type I

GARD: 19 Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This enzyme shortage is caused by genetic changes in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.

MalaCards based summary: Tyrosinemia, Type I, also known as tyrosinemia type i, is related to glycine n-methyltransferase deficiency and abdominal obesity-metabolic syndrome 1. An important gene associated with Tyrosinemia, Type I is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include Liver, kidney and pancreatic islet, and related phenotypes are generalized aminoaciduria and splenomegaly

OMIM®: 57 Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by Bliksrud et al., 2005). (276700) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.

Orphanet: 58 Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

Disease Ontology: 11 A tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.

Wikipedia: 75 Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine,... more...

GeneReviews: NBK1515

Related Diseases for Tyrosinemia, Type I

Diseases in the Tyrosinemia family:

Tyrosinemia, Type Ii Tyrosinemia, Type I
Tyrosinemia, Type Iii

Diseases related to Tyrosinemia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 glycine n-methyltransferase deficiency 31.5 MAT1A AHCY
2 abdominal obesity-metabolic syndrome 1 30.8 OTC HGD FAH
3 fanconi syndrome 30.8 HPD FAH ALAD
4 liver cirrhosis 30.4 SERPINA1 MAT1A FAH AFP
5 tyrosinemia 30.2 TYR TAT SERPINA1 PCSK9 OTC HPD
6 bilirubin metabolic disorder 29.9 SERPINA1 FAH F9 AFP
7 hypermethioninemia 29.8 OTC MAT1A FAH AHCY
8 tyrosinemia, type ii 29.7 TAT OTC HPD HGD GSTZ1 FAH
9 amino acid metabolic disorder 29.5 TAT OTC MAT1A HPD HGD FAH
10 tyrosinemia, type iii 29.5 TYR TAT HPD HGD GSTZ1 FAH
11 alkaptonuria 28.9 TYR TAT MAT1A HPD HGD GSTZ1
12 tyrosinosis 11.2
13 childhood hepatocellular carcinoma 11.1
14 maleylacetoacetate isomerase deficiency 11.1
15 liver disease 10.6
16 rickets 10.5
17 hepatocellular carcinoma 10.4
18 porphyria 10.3
19 inherited metabolic disorder 10.3
20 acute liver failure 10.3
21 pancreatitis 10.2
22 pentosuria 10.2 HPD HGD
23 ovarian mixed germ cell neoplasm 10.2 SERPINA1 AFP
24 liver sarcoma 10.2 SERPINA1 AFP
25 hepatoid adenocarcinoma 10.2 SERPINA1 AFP
26 pancreatoblastoma 10.2 SERPINA1 AFP
27 bile duct cysts 10.2 SERPINA1 AFP
28 citrullinemia, type ii, adult-onset 10.1 OTC FAH
29 glutathione synthetase deficiency 10.1
30 fanconi renotubular syndrome 1 10.1
31 galactosemia i 10.1
32 hypophosphatemic rickets, x-linked recessive 10.1
33 non-alcoholic fatty liver disease 10.1
34 hyperinsulinemic hypoglycemia 10.1
35 renal tubular acidosis 10.1
36 hypoglycemia 10.1
37 esophageal varix 10.1 SERPINA1 AFP
38 craniofacial microsomia 10.1
39 hepatoblastoma 10.1
40 hepatic vascular disease 10.1 U2AF1 SERPINA1 AFP
41 vitamin k deficiency bleeding 10.1 F9 AFP
42 hawkinsinuria 10.1 TAT HPD GSTZ1 FAH
43 ornithine transcarbamylase deficiency, hyperammonemia due to 10.0 OTC FAH F9
44 renal osteodystrophy 10.0
45 attention deficit-hyperactivity disorder 10.0
46 hypophosphatasia, adult 10.0
47 keratitis, hereditary 10.0
48 nephrolithiasis, calcium oxalate 10.0
49 pancreatitis, hereditary 10.0
50 porphyria, acute intermittent 10.0

Graphical network of the top 20 diseases related to Tyrosinemia, Type I:



Diseases related to Tyrosinemia, Type I

Symptoms & Phenotypes for Tyrosinemia, Type I

Human phenotypes related to Tyrosinemia, Type I:

58 30 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002909
2 splenomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0001744
3 hepatomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0002240
4 acute hepatic failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006554
5 hepatocellular carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001402
6 rickets of the lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006463
7 fever 30 Very rare (1%) HP:0001945
8 hypoglycemia 30 Very rare (1%) HP:0001943
9 anemia 30 Very rare (1%) HP:0001903
10 ascites 30 Very rare (1%) HP:0001541
11 growth delay 30 Very rare (1%) HP:0001510
12 hepatic failure 30 Very rare (1%) HP:0001399
13 enlarged kidney 30 Very rare (1%) HP:0000105
14 metabolic acidosis 30 Very rare (1%) HP:0001942
15 melena 30 Very rare (1%) HP:0002249
16 episodic vomiting 30 Very rare (1%) HP:0002572
17 failure to thrive 30 HP:0001508
18 renal insufficiency 30 HP:0000083
19 elevated hepatic transaminase 30 HP:0002910
20 cirrhosis 30 HP:0001394
21 hypertrophic cardiomyopathy 30 HP:0001639
22 nephrocalcinosis 30 HP:0000121
23 gastrointestinal hemorrhage 30 HP:0002239
24 elevated alpha-fetoprotein 30 HP:0006254
25 prolonged prothrombin time 30 HP:0008151
26 pancreatic islet-cell hyperplasia 30 HP:0004510
27 periodic paralysis 30 HP:0003768
28 renal fanconi syndrome 30 HP:0001994
29 elevated urinary delta-aminolevulinic acid 30 HP:0003163
30 prolonged partial thromboplastin time 30 HP:0003645
31 hypophosphatemic rickets 30 HP:0004912
32 hypermethioninemia 30 HP:0003235
33 paralytic ileus 30 HP:0002590
34 hypertyrosinemia 30 HP:0003231
35 glomerular sclerosis 30 HP:0000096
36 episodic peripheral neuropathy 30 HP:0006949

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
cirrhosis
acute liver failure

Skeletal:
rickets

Cardiovascular Heart:
hypertrophic cardiomyopathy

Neoplasia:
hepatocellular carcinoma

Abdomen Gastrointestinal:
paralytic ileus
gi bleeding

Muscle Soft Tissue:
chronic weakness

Neurologic Central Nervous System:
episodic paralysis

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypophosphatemia
hypoglycemia
elevated alpha-fetoprotein
elevated urinary delta-aminolevulinic acid
tyrosinemia
more
Abdomen External Features:
ascites

Genitourinary Kidneys:
nephrocalcinosis
renal fanconi syndrome
glomerulosclerosis
renal failure
nephromegaly

Metabolic Features:
renal fanconi syndrome
hypophosphatemic rickets

Neurologic Peripheral Nervous System:
episodic peripheral neuropathy

Abdomen Pancreas:
pancreatic islet-cell hypertrophy

Hematology:
abnormal blood coagulation studies (prolonged pt and ptt)

Clinical features from OMIM®:

276700 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ACADVL AFP AHCY ALAD DMD F9
2 no effect GR00402-S-2 10.11 F9 FAH GSTZ1 HGD HPD MAT1A

MGI Mouse Phenotypes related to Tyrosinemia, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ACADVL AFP AHCY ALAD DMD F9
2 liver/biliary system MP:0005370 10.18 ACADVL AFP DMD F9 FAH GSTZ1
3 growth/size/body region MP:0005378 10.1 ACADVL ALAD DMD FAH GSTZ1 HGD
4 renal/urinary system MP:0005367 10.09 ALAD DMD FAH GSTZ1 HGD HPD
5 cardiovascular system MP:0005385 10 ACADVL AHCY DMD F9 FAH GSTZ1
6 neoplasm MP:0002006 9.93 ACADVL AFP FAH RAG2 TYR U2AF1
7 behavior/neurological MP:0005386 9.93 ACADVL AFP AHCY ALAD DMD FAH
8 immune system MP:0005387 9.77 AHCY ALAD DMD F9 FAH GSTZ1
9 mortality/aging MP:0010768 9.47 ACADVL AHCY ALAD DMD F9 FAH

Drugs & Therapeutics for Tyrosinemia, Type I

Drugs for Tyrosinemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 3 104206-65-7 115355

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Open-label, Multicentre, Multiple-dose Trial to Evaluate Pharmacokinetics, Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Orfadin in Patients Diagnosed With Hereditary Tyrosinemia Type 1 Completed NCT02323529 Phase 3 Nitisinone
2 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
3 A Single Center, Single-Dose, Open-Label, Laboratory-Blind, Randomized, Three-Period Crossover Study to Determine the Bioequivalence of Two Oral Formulations Containing of Nitisinone 10 mg Compared to the Reference Formulation Orfadin 10 mg in at Least 18 Healthy Male and Female Subjects Under Fasting Conditions Completed NCT02750709 Phase 1 Nitisinone;Nitisinone 10 mg Tablet High Compritol;Orfadin
4 A Three-Period Crossover Study to Determine the Bioequivalence of Two Oral Formulations Containing Nitisinone 10 mg Compared to Reference Formulation Orfadin In Healthy Subjects Under Fasting Conditions Completed NCT02750345 Phase 1 Nitisinone;Nitisinone Baked Tablet;Orfadin
5 A Single Center, Single-Dose, Open-Label, Randomized Study to Compare the Bioavailability of an Oral Test Formulation Containing Nitisinone 10 mg in at Least 16 Healthy Male and Female Subjects Under Fasting and Fed Conditions Completed NCT02750332 Phase 1 Nitisinone
6 Taste and Palatability of Orfadin Suspension. An Open, Non-controlled 3 Day Study in Pediatric Patients With Hereditary Tyrosinemia Type 1 Treated With Orfadin. Completed NCT01734889 Phase 1 Nitisinone
7 Orfadin and Nitinosine Study Unknown status NCT04113772 Nitisinone;Orfadin
8 An Acceptability Study to Evaluate the Adherence, Tolerance and Metabolic Control of Patients With Tyrosinaemia, When Using TYR Sphere (a Food for Special Medical Purposes (FSMP)) as Part of Dietary Management. Completed NCT04196959
9 A Non-interventional Post Authorization Study (PASS) to Evaluate Long-term Safety of Orfadin Treatment in Hypertyrosinemia Type 1 (HT-1) Patients in Standard Care Completed NCT02320084 Nitisinone
10 Hereditary Hepatorenal Tyrosinemia Natural History (Multicenter Clinical Study): Registry for Patients With Tyrosinemia Type I in Egypt and the Arab World Recruiting NCT03446586
11 BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT03284658

Search NIH Clinical Center for Tyrosinemia, Type I

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Tyrosinemia, Type I cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Tyrosinemia, Type I:
Fibroblast-reprogrammed hepatocytes to treat hereditary tyrosinemia type I
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Tyrosinemia, Type I:
Induced hepatocyte-like cells PMIDs: 21716291
Hepatocytes PMIDs: 12777539 9580649 15239608 22167636 22789058

Genetic Tests for Tyrosinemia, Type I

Genetic tests related to Tyrosinemia, Type I:

# Genetic test Affiliating Genes
1 Tyrosinemia Type I 28 FAH

Anatomical Context for Tyrosinemia, Type I

Organs/tissues related to Tyrosinemia, Type I:

MalaCards : Liver, Kidney, Pancreatic Islet, Bone Marrow, Brain, Bone, Cortex
ODiseA: Liver, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Tyrosinemia, Type I:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate

Publications for Tyrosinemia, Type I

Articles related to Tyrosinemia, Type I:

(show top 50) (show all 613)
# Title Authors PMID Year
1
Self-induced correction of the genetic defect in tyrosinemia type I. 53 62 24 57 5
7929843 1994
2
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. 53 62 57 5
12203990 2002
3
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. 53 62 57 5
9101289 1997
4
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. 53 62 24 5
14691918 2003
5
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. 53 62 24 5
9705236 1998
6
Fumarylacetoacetase mutations in tyrosinaemia type I. 62 57 5
8829657 1996
7
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. 62 57 5
8723690 1996
8
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 62 57 5
7550234 1995
9
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. 62 57 5
8028615 1994
10
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. 62 24 5
27397503 2016
11
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. 62 24 5
25681080 2015
12
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 62 24 5
22554029 2012
13
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. 62 24 57
15759101 2005
14
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. 62 24 5
11196105 2000
15
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. 53 62 5
15465000 2004
16
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. 53 62 5
11754109 2002
17
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. 53 62 5
11476670 2001
18
Crystal structure and mechanism of a carbon-carbon bond hydrolase. 53 62 5
10508789 1999
19
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. 53 62 57
9770534 1998
20
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. 53 62 57
9095403 1997
21
Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. 24 5
8821854 1996
22
The nephropathy of type I tyrosinemia after liver transplantation. 53 62 57
7603784 1995
23
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. 53 62 5
8162054 1994
24
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. 53 62 57
8473520 1993
25
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 53 62 5
8318997 1993
26
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). 53 62 57
2378356 1990
27
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. 53 62 57
2378358 1990
28
Neurologic crises in hereditary tyrosinemia. 24 57
2153931 1990
29
Laboratory monitoring of patients with hereditary tyrosinemia type I. 62 57
32546364 2020
30
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant. 62 5
31568711 2019
31
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate. 62 5
31300554 2019
32
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update. 62 5
28755192 2017
33
Molecular Aspects of the FAH Mutations Involved in HT1 Disease. 62 5
28755182 2017
34
Type 1 Tyrosinaemia. 62 5
27814443 2016
35
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. 62 5
26565546 2016
36
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. 62 5
27093575 2016
37
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? 62 5
25256450 2015
38
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 62 5
23895425 2014
39
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. 62 5
24756054 2014
40
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone. 62 57
24238861 2014
41
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 62 5
24016420 2013
42
[Mutation analysis of FAH gene in patients with tyrosinemia type 1]. 62 5
23927806 2013
43
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 62 5
23225041 2012
44
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. 62 5
23193487 2012
45
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. 62 5
21752152 2011
46
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. 62 5
21764616 2011
47
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report. 62 5
22145516 2011
48
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 62 5
23430822 2011
49
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential. 62 5
23430836 2011
50
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I]. 62 5
21117323 2010

Variations for Tyrosinemia, Type I

ClinVar genetic disease variations for Tyrosinemia, Type I:

5 (show top 50) (show all 405)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAH NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) SNV Benign/Likely Benign; Other
11868 rs11555096 GRCh37: 15:80472526-80472526
GRCh38: 15:80180184-80180184
2 FAH NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) SNV Pathogenic
459903 rs1297118863 GRCh37: 15:80478501-80478501
GRCh38: 15:80186159-80186159
3 FAH NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) SNV Pathogenic
551024 rs779040832 GRCh37: 15:80472530-80472530
GRCh38: 15:80180188-80180188
4 FAH NM_000137.4(FAH):c.1062+5G>A SNV Pathogenic
11870 rs80338901 GRCh37: 15:80472572-80472572
GRCh38: 15:80180230-80180230
5 FAH NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) SNV Pathogenic
11871 rs121965075 GRCh37: 15:80473390-80473390
GRCh38: 15:80181048-80181048
6 FAH NM_000137.4(FAH):c.786G>A (p.Trp262Ter) SNV Pathogenic
11873 rs80338899 GRCh37: 15:80465435-80465435
GRCh38: 15:80173093-80173093
7 FAH NM_000137.4(FAH):c.554-1G>T SNV Pathogenic
11874 rs80338895 GRCh37: 15:80460605-80460605
GRCh38: 15:80168263-80168263
8 FAH NM_000137.4(FAH):c.192G>T (p.Gln64His) SNV Pathogenic
21054 rs80338894 GRCh37: 15:80450512-80450512
GRCh38: 15:80158170-80158170
9 FAH NM_000137.4(FAH):c.191del (p.Gln64fs) DEL Pathogenic
1453896 GRCh37: 15:80450511-80450511
GRCh38: 15:80158169-80158169
10 FAH NC_000015.9:g.(?_80450392)_(80454688_?)del DEL Pathogenic
1459306 GRCh37: 15:80450392-80454688
GRCh38:
11 FAH NM_000137.4(FAH):c.38C>T (p.Pro13Leu) SNV Pathogenic
1451234 GRCh37: 15:80445434-80445434
GRCh38: 15:80153092-80153092
12 FAH NM_000137.4(FAH):c.707-1G>A SNV Pathogenic
558607 rs149052294 GRCh37: 15:80465355-80465355
GRCh38: 15:80173013-80173013
13 FAH NM_000137.4(FAH):c.424A>G (p.Arg142Gly) SNV Pathogenic
928613 rs1420414848 GRCh37: 15:80454647-80454647
GRCh38: 15:80162305-80162305
14 FAH NM_000137.4(FAH):c.47A>T (p.Asn16Ile) SNV Pathogenic
11865 rs121965073 GRCh37: 15:80445443-80445443
GRCh38: 15:80153101-80153101
15 FAH NM_000137.4(FAH):c.835del (p.Gln279fs) DEL Pathogenic
551130 rs1555441703 GRCh37: 15:80465484-80465484
GRCh38: 15:80173142-80173142
16 FAH NM_000137.4(FAH):c.982C>T (p.Gln328Ter) SNV Pathogenic
813492 rs765134063 GRCh37: 15:80472487-80472487
GRCh38: 15:80180145-80180145
17 FAH NM_000137.4(FAH):c.1180+1G>A SNV Pathogenic
813493 rs980415517 GRCh37: 15:80473502-80473502
GRCh38: 15:80181160-80181160
18 FAH NM_000137.4(FAH):c.707-1G>C SNV Pathogenic
928612 rs149052294 GRCh37: 15:80465355-80465355
GRCh38: 15:80173013-80173013
19 FAH NM_000137.4(FAH):c.82_83del (p.Pro28fs) DEL Pathogenic
635516 rs1595889891 GRCh37: 15:80450402-80450403
GRCh38: 15:80158060-80158061
20 FAH NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) SNV Pathogenic
291075 rs886044640 GRCh37: 15:80472468-80472468
GRCh38: 15:80180126-80180126
21 FAH NM_000137.4(FAH):c.1003_1004del (p.Val335fs) DEL Pathogenic
803110 rs1595897345 GRCh37: 15:80472507-80472508
GRCh38: 15:80180165-80180166
22 FAH NM_000137.4(FAH):c.122T>C (p.Leu41Pro) SNV Pathogenic
1354594 GRCh37: 15:80450442-80450442
GRCh38: 15:80158100-80158100
23 FAH NM_000137.4(FAH):c.1235T>A (p.Val412Glu) SNV Pathogenic
1388069 GRCh37: 15:80478526-80478526
GRCh38: 15:80186184-80186184
24 FAH NM_000137.4(FAH):c.860del (p.Leu287fs) DEL Pathogenic
1380695 GRCh37: 15:80467380-80467380
GRCh38: 15:80175038-80175038
25 FAH NM_000137.4(FAH):c.667G>T (p.Glu223Ter) SNV Pathogenic
1401386 GRCh37: 15:80464551-80464551
GRCh38: 15:80172209-80172209
26 FAH NM_000137.4(FAH):c.932del (p.Ala311fs) DEL Pathogenic
1460135 GRCh37: 15:80469897-80469897
GRCh38: 15:80177555-80177555
27 FAH NM_000137.4(FAH):c.484del (p.Arg162fs) DEL Pathogenic
1458313 GRCh37: 15:80460421-80460421
GRCh38: 15:80168079-80168079
28 FAH NM_000137.4(FAH):c.233G>A (p.Trp78Ter) SNV Pathogenic
1455586 GRCh37: 15:80452138-80452138
GRCh38: 15:80159796-80159796
29 FAH NM_000137.4(FAH):c.697del (p.Asp233fs) DEL Pathogenic
1322862 GRCh37: 15:80464581-80464581
GRCh38: 15:80172239-80172239
30 FAH NM_000137.4(FAH):c.1062+2T>G SNV Pathogenic
1328148 GRCh37: 15:80472569-80472569
GRCh38: 15:80180227-80180227
31 FAH NM_000137.4(FAH):c.221del (p.Gly74fs) DEL Pathogenic
862144 rs2041131954 GRCh37: 15:80452124-80452124
GRCh38: 15:80159782-80159782
32 FAH NM_000137.4(FAH):c.535_536del (p.Gln179fs) DEL Pathogenic
957168 rs2041210282 GRCh37: 15:80460472-80460473
GRCh38: 15:80168130-80168131
33 FAH NC_000015.9:g.(?_80445387)_(80445487_?)del DEL Pathogenic
1071695 GRCh37: 15:80445387-80445487
GRCh38:
34 FAH NC_000015.9:g.(?_80460384)_(80460668_?)del DEL Pathogenic
1071697 GRCh37: 15:80460384-80460668
GRCh38:
35 FAH NM_000137.4(FAH):c.721A>T (p.Lys241Ter) SNV Pathogenic
1071826 GRCh37: 15:80465370-80465370
GRCh38: 15:80173028-80173028
36 FAH NM_000137.4(FAH):c.96dup (p.Gly33fs) DUP Pathogenic
1073240 GRCh37: 15:80450415-80450416
GRCh38: 15:80158073-80158074
37 FAH NM_000137.4(FAH):c.372C>A (p.Tyr124Ter) SNV Pathogenic
1075997 GRCh37: 15:80454595-80454595
GRCh38: 15:80162253-80162253
38 FAH NM_000137.4(FAH):c.1090G>T (p.Glu364Ter) SNV Pathogenic
11867 rs121965076 GRCh37: 15:80473411-80473411
GRCh38: 15:80181069-80181069
39 FAH NM_000137.4(FAH):c.742G>A (p.Gly248Arg) SNV Pathogenic
570041 rs774861939 GRCh37: 15:80465391-80465391
GRCh38: 15:80173049-80173049
40 FAH NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) SNV Pathogenic
576751 rs970505762 GRCh37: 15:80472532-80472532
GRCh38: 15:80180190-80180190
41 FAH NM_000137.4(FAH):c.548_553+20del DEL Pathogenic
646736 rs768180953 GRCh37: 15:80460486-80460511
GRCh38: 15:80168144-80168169
42 FAH NM_000137.4(FAH):c.978dup (p.Leu327fs) DUP Pathogenic
656983 rs1595897321 GRCh37: 15:80472482-80472483
GRCh38: 15:80180140-80180141
43 FAH NM_000137.4(FAH):c.709C>T (p.Arg237Ter) SNV Pathogenic
437463 rs769550316 GRCh37: 15:80465358-80465358
GRCh38: 15:80173016-80173016
44 FAH NM_000137.4(FAH):c.1030del (p.Asp344fs) DEL Pathogenic
945587 rs747546798 GRCh37: 15:80472531-80472531
GRCh38: 15:80180189-80180189
45 FAH NM_000137.4(FAH):c.354del (p.Ala119fs) DEL Pathogenic
966300 rs2041138762 GRCh37: 15:80452791-80452791
GRCh38: 15:80160449-80160449
46 FAH NC_000015.9:g.(?_80445387)_(80478561_?)del DEL Pathogenic
1071694 GRCh37: 15:80445387-80478561
GRCh38:
47 FAH NC_000015.9:g.(?_80473374)_(80478561_?)del DEL Pathogenic
1071696 GRCh37: 15:80473374-80478561
GRCh38:
48 FAH NM_000137.4(FAH):c.702G>A (p.Trp234Ter) SNV Pathogenic
1074367 GRCh37: 15:80464586-80464586
GRCh38: 15:80172244-80172244
49 FAH NM_000137.4(FAH):c.615dup (p.Val206fs) DUP Pathogenic
937956 rs1057517084 GRCh37: 15:80464492-80464493
GRCh38: 15:80172150-80172151
50 FAH NM_000137.4(FAH):c.61G>T (p.Val21Phe) SNV Pathogenic
1685807 GRCh37: 15:80445457-80445457
GRCh38: 15:80153115-80153115

UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia, Type I:

73 (show all 20)
# Symbol AA change Variation ID SNP ID
1 FAH p.Asn16Ile VAR_005205 rs121965073
2 FAH p.Phe62Cys VAR_005206
3 FAH p.Gln64His VAR_005207 rs80338894
4 FAH p.Ala134Asp VAR_005208 rs121965074
5 FAH p.Gly158Asp VAR_005209
6 FAH p.Val166Gly VAR_005210 rs778387055
7 FAH p.Cys193Arg VAR_005211
8 FAH p.Gly207Asp VAR_005212 rs754196530
9 FAH p.Asp233Val VAR_005213 rs80338897
10 FAH p.Trp234Gly VAR_005214 rs1555441595
11 FAH p.Pro249Thr VAR_005215
12 FAH p.Pro261Leu VAR_005216 rs80338898
13 FAH p.Thr294Pro VAR_005217 rs370634385
14 FAH p.Gly337Ser VAR_005218 rs80338900
15 FAH p.Pro342Leu VAR_005220 rs779040832
16 FAH p.Gly369Val VAR_005222
17 FAH p.Arg381Gly VAR_005223 rs121965077
18 FAH p.Phe405His VAR_005224
19 FAH p.Ala35Thr VAR_065454
20 FAH p.Gln279Arg VAR_065455 rs121965078

Cosmic variations for Tyrosinemia, Type I:

8 (show top 50) (show all 15406)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97724722 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 9
2 COSM94430614 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 9
3 COSM94436083 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 9
4 COSM94063771 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 9
5 COSM88264637 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 9
6 COSM102741209 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 9
7 COSM131494492 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.1159A>G p.M387V 22:29049340-29049340 9
8 COSM103081572 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 9
9 COSM95977701 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 9
10 COSM102131817 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 9
11 COSM95960776 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 9
12 COSM113317148 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 9
13 COSM99592496 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 9
14 COSM128686611 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.1072T>A p.F358I 19:36891962-36891962 9
15 COSM123358576 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.691C>T p.L231= 4:145885684-145885684 9
16 COSM123949383 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 9
17 COSM101741672 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 9
18 COSM86004822 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 9
19 COSM98561269 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
20 COSM142353152 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
21 COSM142221290 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
22 COSM99854658 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.156G>A p.V52= 19:52002156-52002156 9
23 COSM139729931 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
24 COSM141470046 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
25 COSM141819438 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
26 COSM145038099 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
27 COSM91868668 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 9
28 COSM91880764 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.2171-78T>G p.? 19:30534769-30534769 9
29 COSM140721836 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.2998+205G>A p.? 18:25194955-25194955 9
30 COSM131506983 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 9
31 COSM94799980 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 9
32 COSM90582798 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 9
33 COSM87577038 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 9
34 COSM109096265 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.3433G>T p.V1145L 9:106974156-106974156 9
35 COSM104985080 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.298+23785G>T p.? 2:179745718-179745718 9
36 COSM104427909 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.20G>T p.S7I 2:179745718-179745718 9
37 COSM151538615 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.253+23785G>T p.? 2:179745718-179745718 9
38 COSM127708351 ZNF345 liver,NS,carcinoma,hepatocellular carcinoma c.47-856A>T p.? 19:36891962-36891962 9
39 COSM135887725 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1168C>G p.L390V 16:89734008-89734008 9
40 COSM84511025 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 9
41 COSM111609487 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1444C>G p.L482V 16:89734008-89734008 9
42 COSM92353291 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 9
43 COSM130415812 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.950C>T p.T317I 12:133010889-133010889 9
44 COSM88697750 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 9
45 COSM95253159 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 9
46 COSM94505616 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 9
47 COSM89943752 ZMYM4 liver,NS,carcinoma,hepatocellular carcinoma c.86-8201G>T p.? 1:35350724-35350724 9
48 COSM101398456 ZIC2 liver,NS,carcinoma,hepatocellular carcinoma c.-18C>T p.? 13:99982047-99982047 9
49 COSM113521587 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 9
50 COSM94679661 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 9

Expression for Tyrosinemia, Type I

Search GEO for disease gene expression data for Tyrosinemia, Type I.

Pathways for Tyrosinemia, Type I

GO Terms for Tyrosinemia, Type I

Biological processes related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-phenylalanine catabolic process GO:0006559 9.65 TAT HPD HGD GSTZ1 FAH
2 response to mercury ion GO:0046689 9.62 TAT ALAD
3 aromatic amino acid metabolic process GO:0009072 9.46 TAT HPD GSTZ1 FAH
4 amino acid metabolic process GO:0006520 9.43 TAT OTC HGD
5 tyrosine catabolic process GO:0006572 9.32 TAT HPD HGD GSTZ1 FAH

Molecular functions related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.58 TYR TAT SERPINA1 OTC MAT1A HGD
2 catalytic activity GO:0003824 9.35 TAT GSTZ1 FAH ALAD

Sources for Tyrosinemia, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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