MCID: TYR004
MIFTS: 58

Tyrosinemia

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tyrosinemia

MalaCards integrated aliases for Tyrosinemia:

Name: Tyrosinemia 12 74 25 36 15
Hypertyrosinemia 25 29 6 71
Tyrosinemias 54 43 71
Hereditary Hypertyrosinemia 71
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:9275
KEGG 36 H00165
MeSH 43 D020176
NCIt 49 C98640
ICD10 32 E70.21
UMLS 71 C0268483 C0268486 C1879362

Summaries for Tyrosinemia

Genetics Home Reference : 25 Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10. Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). About 10 percent of newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). In these cases, the cause is not genetic. The most likely causes are vitamin C deficiency or immature liver enzymes due to premature birth.

MalaCards based summary : Tyrosinemia, also known as hypertyrosinemia, is related to tyrosinemia, type ii and tyrosinemia, type iii. An important gene associated with Tyrosinemia is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Tyrosine metabolism and Phenylalanine metabolism. The drugs Nitisinone and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

KEGG : 36 The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I is the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This disorder is associated with liver failure, painful neurologic crises, rickets, and hepatocarcinoma. Type II is caused by a deficiency of tyrosine aminotransferase (TAT), and clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, that is associated with ataxia and mild mental retardation.

Wikipedia : 74 Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot... more...

Related Diseases for Tyrosinemia

Diseases in the Tyrosinemia family:

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

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 34.6 TAT HGD FAH
2 tyrosinemia, type iii 34.1 TAT HPD HGD GSTZ1 FAH
3 tyrosinemia, type i 32.8 TAT SLC25A13 HPD HGD GSTZ1 FAH
4 hyperphenylalaninemia 30.5 QDPR PTS PAH
5 abdominal obesity-metabolic syndrome 1 30.2 PAH HGD FAH BTD
6 ochronosis 30.0 HPD HGD
7 phenylketonuria 30.0 QDPR PTS PAH HPD BTD
8 alkaptonuria 29.6 TAT PAH HPD HGD GSTZ1 FAH
9 maple syrup urine disease 29.3 SLC25A13 QDPR PAH BTD
10 amino acid metabolic disorder 28.6 TAT SLC25A13 PAH HPD HGD FAH
11 transient tyrosinemia of the newborn 12.4
12 hawkinsinuria 11.7
13 tyrosinosis 11.6
14 hypermethioninemia 11.5
15 pediatric hepatocellular carcinoma 11.5
16 tyrosine-oxidase temporary deficiency 11.3
17 folate malabsorption, hereditary 11.1
18 bile acid synthesis defect, congenital, 2 11.1
19 5-oxoprolinase deficiency 11.1
20 glycine n-methyltransferase deficiency 11.1
21 bile acid synthesis defect, congenital, 1 11.1
22 maleylacetoacetate isomerase deficiency 11.1
23 extraoral halitosis due to methanethiol oxidase deficiency 11.1
24 autosomal recessive disease 10.7
25 rickets 10.7
26 hypoglossia-hypodactylia 10.6
27 keratosis 10.6
28 hepatocellular carcinoma 10.5
29 keratitis, hereditary 10.5
30 fanconi syndrome 10.5
31 acute liver failure 10.5
32 inherited metabolic disorder 10.4
33 ovarian primitive germ cell tumor 10.4 POU5F1 AFP
34 liver disease 10.4
35 liver cirrhosis 10.4
36 ovarian endodermal sinus tumor 10.4 POU5F1 AFP
37 intratubular embryonal carcinoma 10.4 POU5F1 AFP
38 central nervous system germ cell tumor 10.4 POU5F1 AFP
39 fanconi renotubular syndrome 1 10.4
40 porphyria 10.4
41 ovarian gonadoblastoma 10.4 POU5F1 AFP
42 brain germinoma 10.3 POU5F1 AFP
43 hypertelorism, preauricular sinus, punctal pits, and deafness 10.3
44 dysgerminoma of ovary 10.3 NANOG AFP
45 teratoma 10.3 SOX2 POU5F1 AFP
46 ovarian embryonal carcinoma 10.3 SOX2 POU5F1 AFP
47 malignant giant cell tumor of soft parts 10.3 POU5F1 NANOG
48 spermatocytoma 10.3 NANOG AFP
49 benign teratoma 10.3 POU5F1 NANOG AFP
50 hypophosphatemic rickets, x-linked recessive 10.2

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to Tyrosinemia

Symptoms & Phenotypes for Tyrosinemia

MGI Mouse Phenotypes related to Tyrosinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 AFP ALAD BTD FAH GSTZ1 HGD
2 mortality/aging MP:0010768 9.77 AFP ALAD CYCS FAH GSTZ1 NANOG
3 liver/biliary system MP:0005370 9.7 AFP FAH GSTZ1 HGD NFE2L2 POU5F1
4 renal/urinary system MP:0005367 9.23 BTD FAH GSTZ1 HGD HPD NFE2L2

Drugs & Therapeutics for Tyrosinemia

Drugs for Tyrosinemia (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
2
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
3 Liver Extracts

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
2 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
3 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
4 Long-Term Clinical Trial of Nitisinone in Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
5 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
6 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
7 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
8 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
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 Study of NTBC for Tyrosinemia I Completed NCT00004443 NTBC
11 Prevention of Dichloroacetate Toxicity Completed NCT00031161 Nitisinone (NTBC);Dichloroacetate
12 Adult Stem Therapy for Patients With Liver Insufficiency Completed NCT00147043
13 Hereditary Hepatorenal Tyrosinemia Natural History (Multicenter Clinical Study): Registry for Patients With Tyrosinemia Type I in Egypt and the Arab World Recruiting NCT03446586
14 BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol Recruiting NCT03284658
15 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. Recruiting NCT04196959
16 Low Carbohydrate Diet: The Effects on Non Alcoholic Fatty Liver Disease in Obese Teens With Metabolic Syndrome Active, not recruiting NCT02358928
17 Orfadin and Nitinosine Study Not yet recruiting NCT04113772 Nitisinone;Orfadin

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Ascorbic Acid
Ascorbic Acid Powder
Hemin
nitisinone
Sodium Ascorbate

Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

Genetic tests related to Tyrosinemia:

# Genetic test Affiliating Genes
1 Hypertyrosinemia 29

Anatomical Context for Tyrosinemia

MalaCards organs/tissues related to Tyrosinemia:

40
Liver, Kidney, Testes, Skin, Eye, Bone, Brain

Publications for Tyrosinemia

Articles related to Tyrosinemia:

(show top 50) (show all 987)
# Title Authors PMID Year
1
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. 54 61
18657947 2009
2
Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. 54 61
19569981 2009
3
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]. 54 61
18289467 2008
4
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 54 61
17560158 2007
5
Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays. 54 61
16899383 2006
6
Harnessing a high cargo-capacity transposon for genetic applications in vertebrates. 54 61
17096595 2006
7
Introduction to the newborn screening fact sheets. 54 61
16960984 2006
8
Newborn screening fact sheets. 54 61
16950973 2006
9
The efficacy of liver transplantation in malignant liver tumors associated with tyrosinemia: clinical and laboratory findings of five cases. 54 61
16712614 2006
10
Evaluation of dichloroacetate treatment in a murine model of hereditary tyrosinemia type 1. 54 61
16581029 2006
11
Current strategies for the treatment of hereditary tyrosinemia type I. 54 61
16494511 2006
12
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. 54 61
15465000 2004
13
Tyrosinemia type I: a clinico-laboratory case report. 54 61
15531838 2004
14
Tyrosinemia I, a model for human diseases mediated by 2-oxoacid-utilizing dioxygenases: hepatotoxin suppression by NTBC does not normalize hepatic collagen metabolism. 54 61
12142814 2002
15
The pathophysiology and treatment of hereditary tyrosinemia type 1. 54 61
11745044 2001
16
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 54 61
11278491 2001
17
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. 54 61
11209059 2001
18
Human genetics: lessons from Quebec populations. 54 61
11701644 2001
19
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. 54 61
11073718 2000
20
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 54 61
10942115 2000
21
Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure. 54 61
10049978 1999
22
The kidney in children with tyrosinemia: sonographic, CT and biochemical findings. 54 61
9933329 1999
23
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 54 61
9633815 1998
24
Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue. 54 61
9417084 1998
25
Tyrosinemia type III: diagnosis and ten-year follow-up. 54 61
9343288 1997
26
In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice. 54 61
8989996 1997
27
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. 54 61
8929295 1996
28
Tyrosinemia: the Quebec experience. 54 61
8889268 1996
29
Saudi aminoacidemias: a six-year study. 54 61
10830032 1996
30
Variable gene expression within human tyrosinemia type 1 liver may reflect region-specific dysplasia. 54 61
8707285 1996
31
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. 54 61
8557261 1996
32
A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III. 54 61
7774914 1995
33
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 54 61
7550234 1995
34
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. 54 61
7977370 1994
35
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. 54 61
7913582 1994
36
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 54 61
8005583 1994
37
Serum levels of oncofetal markers CA 125, CA 19-9, and alpha-fetoprotein in children with hereditary tyrosinemia type I. 54 61
7513078 1994
38
Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. 54 61
8253377 1993
39
Alpha-fetoprotein glycosylation is abnormal in some hepatocellular carcinoma, including white patients with a normal alpha-fetoprotein concentration. 54 61
7506988 1993
40
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. 54 61
8364576 1993
41
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. 54 61
8473520 1993
42
Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1. 54 61
8422430 1993
43
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 54 61
1401056 1992
44
[The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. 54 61
1357201 1992
45
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. 54 61
1350265 1992
46
Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. 54 61
1741389 1992
47
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. 54 61
1594329 1992
48
Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney. 54 61
1916290 1991
49
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. 54 61
1998338 1991
50
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). 54 61
2378356 1990

Variations for Tyrosinemia

ClinVar genetic disease variations for Tyrosinemia:

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAH NM_000137.3(FAH):c.243G>A (p.Ala81=)SNV Conflicting interpretations of pathogenicity 196216 rs36122289 15:80452148-80452148 15:80159806-80159806
2 HPD NM_002150.3(HPD):c.1005C>G (p.Ile335Met)SNV Conflicting interpretations of pathogenicity 1576 rs137852868 12:122277904-122277904 12:121839998-121839998
3 FAH NM_000137.3(FAH):c.-43G>TSNV Conflicting interpretations of pathogenicity 317199 rs200704926 15:80445354-80445354 15:80153012-80153012
4 FAH NM_000137.3(FAH):c.747A>G (p.Pro249=)SNV Conflicting interpretations of pathogenicity 317213 rs138757552 15:80465396-80465396 15:80173054-80173054
5 FAH NM_000137.3(FAH):c.139A>G (p.Lys47Glu)SNV Conflicting interpretations of pathogenicity 317206 rs34749737 15:80450459-80450459 15:80158117-80158117
6 FAH NM_000137.3(FAH):c.-34C>TSNV Conflicting interpretations of pathogenicity 317200 rs142522569 15:80445363-80445363 15:80153021-80153021
7 FAH NM_000137.3(FAH):c.81+12G>ASNV Conflicting interpretations of pathogenicity 317203 rs200319726 15:80445489-80445489 15:80153147-80153147
8 FAH NM_000137.3(FAH):c.249G>A (p.Val83=)SNV Conflicting interpretations of pathogenicity 317209 rs370095143 15:80452154-80452154 15:80159812-80159812
9 FAH NM_000137.3(FAH):c.296A>G (p.Asp99Gly)SNV Conflicting interpretations of pathogenicity 317211 rs547847694 15:80452201-80452201 15:80159859-80159859
10 TAT NM_000353.3(TAT):c.*983A>GSNV Uncertain significance 320390 rs886052266 16:71601064-71601064 16:71567161-71567161
11 TAT NM_000353.3(TAT):c.*581G>ASNV Uncertain significance 320395 rs141029428 16:71601466-71601466 16:71567563-71567563
12 TAT NM_000353.3(TAT):c.*350_*352deldeletion Uncertain significance 320397 rs886052268 16:71601695-71601697 16:71567792-71567794
13 TAT NM_000353.3(TAT):c.1046A>G (p.Asn349Ser)SNV Uncertain significance 320406 rs138304751 16:71603836-71603836 16:71569933-71569933
14 TAT NM_000353.3(TAT):c.614T>C (p.Ile205Thr)SNV Uncertain significance 320410 rs201857669 16:71606181-71606181 16:71572278-71572278
15 TAT NM_000353.3(TAT):c.269A>G (p.Asp90Gly)SNV Uncertain significance 320413 rs886052275 16:71609896-71609896 16:71575993-71575993
16 FAH NM_000137.3(FAH):c.90G>C (p.Pro30=)SNV Uncertain significance 317204 rs202195651 15:80450410-80450410 15:80158068-80158068
17 FAH NM_000137.3(FAH):c.-23A>CSNV Uncertain significance 317201 rs200127538 15:80445374-80445374 15:80153032-80153032
18 FAH NM_000137.3(FAH):c.81+8G>ASNV Uncertain significance 317202 rs188046704 15:80445485-80445485 15:80153143-80153143
19 FAH NM_000137.3(FAH):c.147C>G (p.Leu49=)SNV Uncertain significance 317207 rs886051496 15:80450467-80450467 15:80158125-80158125
20 FAH NM_000137.3(FAH):c.841C>A (p.Pro281Thr)SNV Uncertain significance 317214 rs199820704 15:80467361-80467361 15:80175019-80175019
21 FAH NM_000137.3(FAH):c.*138G>ASNV Uncertain significance 317220 rs374613273 15:80478689-80478689 15:80186347-80186347
22 TAT NM_000353.3(TAT):c.*208G>ASNV Uncertain significance 320401 rs886052271 16:71601839-71601839 16:71567936-71567936
23 TAT NM_000353.3(TAT):c.*1276deldeletion Uncertain significance 320385 rs112731997 16:71600771-71600771 16:71566868-71566868
24 TAT NM_000353.3(TAT):c.*1055A>GSNV Uncertain significance 320389 rs886052265 16:71600992-71600992 16:71567089-71567089
25 TAT NM_000353.3(TAT):c.*774G>ASNV Uncertain significance 320393 rs886052267 16:71601273-71601273 16:71567370-71567370
26 TAT NM_000353.3(TAT):c.*682T>CSNV Uncertain significance 320394 rs118086978 16:71601365-71601365 16:71567462-71567462
27 FAH NM_000137.3(FAH):c.*317G>ASNV Uncertain significance 317223 rs886051499 15:80478868-80478868 15:80186526-80186526
28 FAH NM_000137.2(FAH):c.-67C>ASNV Uncertain significance 317197 rs886051495 15:80445330-80445330 15:80152988-80152988
29 FAH NM_000137.2(FAH):c.-63C>ASNV Uncertain significance 317198 rs532122242 15:80445334-80445334 15:80152992-80152992
30 FAH NM_000137.3(FAH):c.109G>A (p.Gly37Ser)SNV Uncertain significance 317205 rs761938144 15:80450429-80450429 15:80158087-80158087
31 HPD NM_002150.3(HPD):c.211C>G (p.Leu71Val)SNV Uncertain significance 307488 rs886049037 12:122294519-122294519 12:121856613-121856613
32 TAT NM_000353.3(TAT):c.*252C>GSNV Uncertain significance 320398 rs886052269 16:71601795-71601795 16:71567892-71567892
33 TAT NM_000353.3(TAT):c.558C>T (p.Tyr186=)SNV Uncertain significance 320411 rs886052274 16:71606442-71606442 16:71572539-71572539
34 TAT NM_000353.3(TAT):c.308C>T (p.Ser103Leu)SNV Uncertain significance 320412 rs756182015 16:71609857-71609857 16:71575954-71575954
35 FAH NM_000137.3(FAH):c.1152G>T (p.Leu384=)SNV Uncertain significance 317216 rs886051497 15:80473473-80473473 15:80181131-80181131
36 HPD NM_002150.3(HPD):c.*191C>TSNV Uncertain significance 307477 rs886049036 12:122277443-122277443 12:121839537-121839537
37 HPD NM_002150.3(HPD):c.765T>C (p.Tyr255=)SNV Uncertain significance 307483 rs767720774 12:122284834-122284834 12:121846928-121846928
38 TAT NM_000353.3(TAT):c.*1066G>ASNV Uncertain significance 320387 rs886052264 16:71600981-71600981 16:71567078-71567078
39 TAT NM_000353.3(TAT):c.*852G>ASNV Uncertain significance 320391 rs191942931 16:71601195-71601195 16:71567292-71567292
40 TAT NM_000353.3(TAT):c.*813G>CSNV Uncertain significance 320392 rs182924845 16:71601234-71601234 16:71567331-71567331
41 TAT NM_000353.3(TAT):c.*219G>ASNV Uncertain significance 320400 rs183020305 16:71601828-71601828 16:71567925-71567925
42 TAT NM_000353.3(TAT):c.*30C>ASNV Uncertain significance 320403 rs375492740 16:71602017-71602017 16:71568114-71568114
43 TAT NM_000353.3(TAT):c.1042-12C>TSNV Uncertain significance 320407 rs748571289 16:71603852-71603852 16:71569949-71569949
44 TAT NM_000353.3(TAT):c.-83C>TSNV Uncertain significance 320417 rs886052276 16:71610982-71610982 16:71577079-71577079
45 FAH NM_000137.3(FAH):c.291A>C (p.Arg97Ser)SNV Uncertain significance 317210 rs754226189 15:80452196-80452196 15:80159854-80159854
46 FAH NM_000137.3(FAH):c.567A>G (p.Val189=)SNV Uncertain significance 317212 rs750785945 15:80460619-80460619 15:80168277-80168277
47 HPD NM_002150.3(HPD):c.5C>T (p.Thr2Met)SNV Uncertain significance 307491 rs774495352 12:122296618-122296618 12:121858712-121858712
48 46;XY;t(16;20)(q23.1;p11.22)Translocation Uncertain significance 267924
49 TAT NM_000353.3(TAT):c.-7G>ASNV Uncertain significance 320416 rs201879651 16:71610325-71610325 16:71576422-71576422
50 TAT NM_000353.3(TAT):c.*1056G>CSNV Uncertain significance 320388 rs535439847 16:71600991-71600991 16:71567088-71567088

Cosmic variations for Tyrosinemia:

9 (show top 50) (show all 16228)
# 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 COSM94436083 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 9
3 COSM94063771 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 9
4 COSM88264637 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 9
5 COSM131494492 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.1159A>G p.M387V 22:29049340-29049340 9
6 COSM102131817 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 9
7 COSM113317148 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 9
8 COSM128686611 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.1072T>A p.F358I 19:36891962-36891962 9
9 COSM123949383 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 9
10 COSM86004822 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 9
11 COSM139729931 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 9
12 COSM91868668 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 9
13 COSM91880764 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.2171-78T>G p.? 19:30534769-30534769 9
14 COSM94799980 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 9
15 COSM90582798 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 9
16 COSM87577038 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 9
17 COSM151538615 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.253+23785G>T p.? 2:179745718-179745718 9
18 COSM111609487 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1444C>G p.L482V 16:89734008-89734008 9
19 COSM92353291 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 9
20 COSM95253159 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 9
21 COSM94505616 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 9
22 COSM89943752 ZMYM4 liver,NS,carcinoma,hepatocellular carcinoma c.86-8201G>T p.? 1:35350724-35350724 9
23 COSM101398456 ZIC2 liver,NS,carcinoma,hepatocellular carcinoma c.-18C>T p.? 13:99982047-99982047 9
24 COSM92703312 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 9
25 COSM92032561 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221= 14:67807621-67807621 9
26 COSM84360265 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.1979+14C>A p.? 5:32395145-32395145 9
27 COSM84362097 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 9
28 COSM85178149 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 9
29 COSM87884183 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 9
30 COSM127392053 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 9
31 COSM149268658 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 9
32 COSM149328017 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 9
33 COSM149281099 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 9
34 COSM144309108 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 9
35 COSM87420403 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 9
36 COSM98996636 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 9
37 COSM92255466 ZC3H15 liver,NS,carcinoma,hepatocellular carcinoma c.*55T>G p.? 2:186508788-186508788 9
38 COSM85044193 ZC3H14 liver,NS,carcinoma,hepatocellular carcinoma c.*10873G>A p.? 14:88622624-88622624 9
39 COSM106743522 ZBTB7B liver,NS,carcinoma,hepatocellular carcinoma c.*635G>C p.? 1:155017320-155017320 9
40 COSM93795261 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 9
41 COSM103188148 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 9
42 COSM91488114 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 9
43 COSM95291738 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 9
44 COSM107993551 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2383A>G p.I795V 8:80519295-80519295 9
45 COSM107993152 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2208A>G p.T736= 8:80518852-80518852 9
46 COSM86073785 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 9
47 COSM142300159 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1580A>G p.N527S 8:63187582-63187582 9
48 COSM90849676 YOD1 liver,NS,carcinoma,hepatocellular carcinoma c.*157T>C p.? 1:207048863-207048863 9
49 COSM90620829 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 9
50 COSM86902201 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167= 3:183722100-183722100 9

Expression for Tyrosinemia

Search GEO for disease gene expression data for Tyrosinemia.

Pathways for Tyrosinemia

Pathways related to Tyrosinemia according to KEGG:

36
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Phenylalanine metabolism hsa00360

Pathways related to Tyrosinemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TAT SLC25A13 SELENBP1 QDPR PTS PAH
2
Show member pathways
12.31 SOX2 POU5F1 NFE2L2 NANOG
3 12.06 SOX2 POU5F1 NANOG AFP
4 11.94 SOX2 POU5F1 PAH NANOG
5 11.88 SOX2 POU5F1 NANOG
6 11.83 SOX2 POU5F1 NANOG AFP
7 11.46 SOX2 POU5F1 NANOG
8 11.38 SOX2 POU5F1 NANOG
9 11.34 SOX2 POU5F1 NANOG
10
Show member pathways
11.32 SOX2 POU5F1 NANOG
11
Show member pathways
11.31 TAT PAH HPD HGD GSTZ1 FAH
12
Show member pathways
11.26 TAT QDPR PAH HPD HGD GSTZ1
13
Show member pathways
10.96 QDPR PTS PAH
14
Show member pathways
10.91 TAT HPD
15 10.66 SOX2 POU5F1 NANOG
16
Show member pathways
10.33 SOX2 POU5F1 NANOG

GO Terms for Tyrosinemia

Cellular components related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 TAT SOX2 SELENBP1 QDPR PTS POU5F1

Biological processes related to Tyrosinemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 SELENBP1 QDPR PAH HPD HGD CYCS
2 somatic stem cell population maintenance GO:0035019 9.63 SOX2 POU5F1 NANOG
3 cellular amino acid metabolic process GO:0006520 9.62 TAT QDPR PTS HGD
4 aromatic amino acid family metabolic process GO:0009072 9.55 TAT PAH HPD GSTZ1 FAH
5 response to lead ion GO:0010288 9.51 QDPR ALAD
6 cellular respiration GO:0045333 9.49 SLC25A13 CYCS
7 tetrahydrobiopterin biosynthetic process GO:0006729 9.48 QDPR PTS
8 endodermal cell fate specification GO:0001714 9.43 SOX2 POU5F1 NANOG
9 response to mercury ion GO:0046689 9.4 TAT ALAD
10 response to aluminum ion GO:0010044 9.37 QDPR ALAD
11 tyrosine catabolic process GO:0006572 9.35 TAT HPD HGD GSTZ1 FAH
12 L-phenylalanine catabolic process GO:0006559 9.17 TAT QDPR PAH HPD HGD GSTZ1

Molecular functions related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 SELENBP1 QDPR PAH HPD HGD
2 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 SOX2 POU5F1 NFE2L2

Sources for Tyrosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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