MCID: TYR004
MIFTS: 49

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 76 25 37 15
Hypertyrosinemia 25 29 6 73
Tyrosinemias 55 44 73
Hereditary Hypertyrosinemia 73
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:9275
ICD10 33 E70.21
MeSH 44 D020176
NCIt 50 C98640
KEGG 37 H00165

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.

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 drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

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

Wikipedia : 76 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 70)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 34.4 FAH TAT
2 tyrosinemia, type iii 34.1 FAH HPD TAT
3 tyrosinemia, type i 33.2 AFP ALAD CYCS FAH GSTZ1 HPD
4 alkaptonuria 30.3 FAH GSTZ1 HPD
5 hyperphenylalaninemia 29.6 PAH PTS
6 phenylketonuria 29.4 BTD PAH PTS
7 hepatoblastoma 29.3 AFP CYCS
8 transient tyrosinemia of the newborn 12.2
9 tyrosinosis 11.5
10 hawkinsinuria 11.5
11 tyrosine-oxidase temporary deficiency 11.1
12 folate malabsorption, hereditary 11.0
13 bile acid synthesis defect, congenital, 2 11.0
14 5-oxoprolinase deficiency 11.0
15 glycine n-methyltransferase deficiency 11.0
16 bile acid synthesis defect, congenital, 1 11.0
17 maleylacetoacetate isomerase deficiency 11.0
18 childhood hepatocellular carcinoma 11.0
19 hanhart syndrome 10.4
20 hepatocellular carcinoma 10.4
21 liver disease 10.2
22 pancreatitis 10.2
23 infantile liver failure syndrome 1 10.1
24 hypermethioninemia 10.1
25 hemifacial microsomia with radial defects 10.0
26 hemifacial microsomia 10.0
27 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
28 keratosis 10.0
29 hyperphenylalaninemia due to dehydratase deficiency 10.0
30 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 FAH PAH
31 classic phenylketonuria 9.9 PAH PTS
32 mild hyperphenylalaninemia 9.9 PAH PTS
33 hashimoto thyroiditis 9.9
34 maple syrup urine disease 9.9
35 glutathione synthetase deficiency 9.9
36 bacterial sepsis 9.9
37 cutaneous porphyria 9.9
38 hyperinsulinism 9.9
39 palmoplantar keratosis 9.9
40 peripheral nervous system disease 9.9
41 thyroiditis 9.9
42 viral infectious disease 9.9
43 lymphomatous thyroiditis 9.9
44 hyperphenylalaninemia, bh4-deficient, a 9.9 PAH PTS
45 amino acid metabolic disorder 9.9 BTD FAH PAH
46 tetrahydrobiopterin deficiency 9.9 PAH PTS
47 angelman syndrome 9.9
48 keratitis, hereditary 9.9
49 hereditary leiomyomatosis and renal cell cancer 9.9
50 porphyria, acute intermittent 9.9

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to Tyrosinemia

Symptoms & Phenotypes for Tyrosinemia

MGI Mouse Phenotypes related to Tyrosinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AFP BTD FAH GSTZ1 HPD PAH
2 renal/urinary system MP:0005367 9.02 BTD FAH GSTZ1 HPD PAH

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 2, Phase 3,Phase 3,Phase 1 104206-65-7 115355

Interventional clinical trials:

(show all 11)
# 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 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-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 Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750345 Phase 1 Nitisinone;Nitisinone Baked Tablet;Orfadin
5 Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750332 Phase 1 Nitisinone
6 Taste and Palatability of Orfadin Suspension Completed NCT01734889 Phase 1 Nitisinone
7 Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Completed NCT02750709 Phase 1 Nitisinone;Nitisinone 10 mg Tablet High Compritol;Orfadin
8 Study of NTBC for Tyrosinemia I Completed NCT00004443 Not Applicable NTBC
9 Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 Recruiting NCT03284658
10 Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study) Recruiting NCT03446586
11 Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care Recruiting NCT02320084 Nitisinone

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Liver, Kidney, Testes, Skin, Brain, Eye, Thyroid

Publications for Tyrosinemia

Articles related to Tyrosinemia:

(show top 50) (show all 471)
# Title Authors Year
1
Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2. ( 29480263 )
2018
2
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. ( 29741470 )
2018
3
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1. ( 29195145 )
2018
4
Cas9-nickase-mediated genome editing corrects hereditary tyrosinemia in rats. ( 29507093 )
2018
5
Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1. ( 29764210 )
2018
6
A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. ( 29456978 )
2018
7
Dendrimer-Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I. ( 30368954 )
2018
8
Discontinuation of NTBC after liver transplantation in tyrosinemia type 1. ( 30375135 )
2018
9
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation. ( 30414057 )
2018
10
Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1. ( 30477316 )
2018
11
Comment on Pancreatitis in Type 1 Tyrosinemia. ( 28783026 )
2017
12
Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1. ( 28755183 )
2017
13
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review. ( 28893311 )
2017
14
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. ( 28755185 )
2017
15
Richner-Hanhart syndrome (tyrosinemia type II). ( 29360903 )
2017
16
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. ( 28255985 )
2017
17
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day. ( 29170874 )
2017
18
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). ( 28769581 )
2017
19
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. ( 28771246 )
2017
20
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. ( 27855279 )
2017
21
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. ( 28712060 )
2017
22
Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean. ( 28755180 )
2017
23
Caregiver Quality of Life with Tyrosinemia Type 1. ( 29110168 )
2017
24
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. ( 28949985 )
2017
25
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1. ( 28755181 )
2017
26
Tyrosinemia Type I in Japan: A Report of Five Cases. ( 28755191 )
2017
27
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia. ( 29201126 )
2017
28
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. ( 28755189 )
2017
29
Newborn Screening for Hereditary Tyrosinemia Type I in QuAcbec: Update. ( 28755192 )
2017
30
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine. ( 28755184 )
2017
31
Fumarylacetoacetate hydrolase knockout rabbit model for hereditary tyrosinemia type 1. ( 28053091 )
2017
32
Liver Cancer in Tyrosinemia Type 1. ( 28755188 )
2017
33
Hereditary Tyrosinemia Type 1 in Turkey. ( 28755194 )
2017
34
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint. ( 28755198 )
2017
35
Dietary Considerations in Tyrosinemia Type I. ( 28755197 )
2017
36
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. ( 28274233 )
2017
37
Hepatorenal Tyrosinemia in Mexico: A Call to Action. ( 28755193 )
2017
38
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1. ( 28643275 )
2017
39
Gene Therapy in Tyrosinemia: Potential and Pitfalls. ( 28755200 )
2017
40
Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II. ( 28121442 )
2017
41
Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I. ( 26322918 )
2017
42
What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? ( 28120161 )
2017
43
Palmoplantar hyperkeratosis with a linear disposition along dermatoglyphics: a clue for an early diagnosis of tyrosinemia type II. ( 28166616 )
2017
44
Omega-3 fatty acid supplementation decreases DNA damage in brain of rats subjected to a chemically induced chronic model of Tyrosinemia type II. ( 28315992 )
2017
45
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet. ( 28377889 )
2017
46
Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era. ( 28396719 )
2017
47
Role of antioxidant treatment on DNA and lipid damage in the brain of rats subjected to a chemically induced chronic model of tyrosinemia type II. ( 28547180 )
2017
48
Comparison of a full systematic review versus rapid review approaches to assess a newborn screening test for tyrosinemia type 1. ( 28703492 )
2017
49
Tyrosinemia Presenting With Multiple Hepatic Lesions and Splenomegaly. ( 27898518 )
2016
50
Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. ( 27282650 )
2016

Variations for Tyrosinemia

ClinVar genetic disease variations for Tyrosinemia:

6 (show top 50) (show all 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPD NM_002150.2(HPD): c.1005C> G (p.Ile335Met) single nucleotide variant Likely benign rs137852868 GRCh37 Chromosome 12, 122277904: 122277904
2 HPD NM_002150.2(HPD): c.1005C> G (p.Ile335Met) single nucleotide variant Likely benign rs137852868 GRCh38 Chromosome 12, 121839998: 121839998
3 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh37 Chromosome 15, 80472572: 80472572
4 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh38 Chromosome 15, 80180230: 80180230
5 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh37 Chromosome 15, 80460605: 80460605
6 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh38 Chromosome 15, 80168263: 80168263
7 FAH NM_000137.2(FAH): c.267G> C (p.Leu89=) single nucleotide variant Benign/Likely benign rs33929922 GRCh37 Chromosome 15, 80452172: 80452172
8 FAH NM_000137.2(FAH): c.267G> C (p.Leu89=) single nucleotide variant Benign/Likely benign rs33929922 GRCh38 Chromosome 15, 80159830: 80159830
9 FAH NM_000137.2(FAH): c.82-13G> A single nucleotide variant Benign rs1370275 GRCh37 Chromosome 15, 80450389: 80450389
10 FAH NM_000137.2(FAH): c.82-13G> A single nucleotide variant Benign rs1370275 GRCh38 Chromosome 15, 80158047: 80158047
11 FAH NM_000137.2(FAH): c.1056C> T (p.Ser352=) single nucleotide variant Benign/Likely benign rs1801374 GRCh37 Chromosome 15, 80472561: 80472561
12 FAH NM_000137.2(FAH): c.1056C> T (p.Ser352=) single nucleotide variant Benign/Likely benign rs1801374 GRCh38 Chromosome 15, 80180219: 80180219
13 FAH NM_000137.2(FAH): c.1209C> T (p.Ile403=) single nucleotide variant Benign/Likely benign rs111345782 GRCh37 Chromosome 15, 80478500: 80478500
14 FAH NM_000137.2(FAH): c.1209C> T (p.Ile403=) single nucleotide variant Benign/Likely benign rs111345782 GRCh38 Chromosome 15, 80186158: 80186158
15 FAH NM_000137.2(FAH): c.243G> A (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs36122289 GRCh37 Chromosome 15, 80452148: 80452148
16 FAH NM_000137.2(FAH): c.243G> A (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs36122289 GRCh38 Chromosome 15, 80159806: 80159806
17 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh37 Chromosome 12, 122296608: 122296608
18 HPD NM_002150.2(HPD): c.15T> G (p.Ser5Arg) single nucleotide variant Benign rs35849100 GRCh38 Chromosome 12, 121858702: 121858702
19 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh37 Chromosome 15, 80473505: 80473505
20 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh38 Chromosome 15, 80181163: 80181163
21 TAT NM_000353.2(TAT): c.309G> A (p.Ser103=) single nucleotide variant Benign/Likely benign rs78302875 GRCh38 Chromosome 16, 71575953: 71575953
22 TAT NM_000353.2(TAT): c.309G> A (p.Ser103=) single nucleotide variant Benign/Likely benign rs78302875 GRCh37 Chromosome 16, 71609856: 71609856
23 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh37 Chromosome 15, 80469886: 80469886
24 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh38 Chromosome 15, 80177544: 80177544
25 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh37 Chromosome 12, 122281602: 122281602
26 HPD NM_002150.2(HPD): c.954+14A> C single nucleotide variant Likely benign rs200866898 GRCh38 Chromosome 12, 121843696: 121843696
27 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh37 Chromosome 12, 122292609: 122292609
28 HPD NM_002150.2(HPD): c.414G> A (p.Thr138=) single nucleotide variant Benign rs140788110 GRCh38 Chromosome 12, 121854703: 121854703
29 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh38 Chromosome 12, 121858712: 121858712
30 HPD NM_002150.2(HPD): c.5C> T (p.Thr2Met) single nucleotide variant Uncertain significance rs774495352 GRCh37 Chromosome 12, 122296618: 122296618
31 FAH NM_000137.2(FAH): c.-105G> C single nucleotide variant Likely benign rs112474268 GRCh38 Chromosome 15, 80152950: 80152950
32 FAH NM_000137.2(FAH): c.-105G> C single nucleotide variant Likely benign rs112474268 GRCh37 Chromosome 15, 80445292: 80445292
33 FAH NM_000137.2(FAH): c.-43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs200704926 GRCh38 Chromosome 15, 80153012: 80153012
34 FAH NM_000137.2(FAH): c.-43G> T single nucleotide variant Conflicting interpretations of pathogenicity rs200704926 GRCh37 Chromosome 15, 80445354: 80445354
35 FAH NM_000137.2(FAH): c.291A> C (p.Arg97Ser) single nucleotide variant Uncertain significance rs754226189 GRCh38 Chromosome 15, 80159854: 80159854
36 FAH NM_000137.2(FAH): c.291A> C (p.Arg97Ser) single nucleotide variant Uncertain significance rs754226189 GRCh37 Chromosome 15, 80452196: 80452196
37 FAH NM_000137.2(FAH): c.567A> G (p.Val189=) single nucleotide variant Uncertain significance rs750785945 GRCh38 Chromosome 15, 80168277: 80168277
38 FAH NM_000137.2(FAH): c.567A> G (p.Val189=) single nucleotide variant Uncertain significance rs750785945 GRCh37 Chromosome 15, 80460619: 80460619
39 FAH NM_000137.2(FAH): c.747A> G (p.Pro249=) single nucleotide variant Uncertain significance rs138757552 GRCh38 Chromosome 15, 80173054: 80173054
40 FAH NM_000137.2(FAH): c.747A> G (p.Pro249=) single nucleotide variant Uncertain significance rs138757552 GRCh37 Chromosome 15, 80465396: 80465396
41 FAH NM_000137.2(FAH): c.1152G> T (p.Leu384=) single nucleotide variant Uncertain significance rs886051497 GRCh38 Chromosome 15, 80181131: 80181131
42 FAH NM_000137.2(FAH): c.1152G> T (p.Leu384=) single nucleotide variant Uncertain significance rs886051497 GRCh37 Chromosome 15, 80473473: 80473473
43 FAH NM_000137.2(FAH): c.*310T> A single nucleotide variant Likely benign rs75212096 GRCh37 Chromosome 15, 80478861: 80478861
44 FAH NM_000137.2(FAH): c.*310T> A single nucleotide variant Likely benign rs75212096 GRCh38 Chromosome 15, 80186519: 80186519
45 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh37 Chromosome 12, 122277443: 122277443
46 HPD NM_002150.2(HPD): c.*191C> T single nucleotide variant Uncertain significance rs886049036 GRCh38 Chromosome 12, 121839537: 121839537
47 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh37 Chromosome 12, 122277891: 122277891
48 HPD NM_002150.2(HPD): c.1018G> T (p.Val340Leu) single nucleotide variant Benign/Likely benign rs36023382 GRCh38 Chromosome 12, 121839985: 121839985
49 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh37 Chromosome 12, 122281656: 122281656
50 HPD NM_002150.2(HPD): c.914C> T (p.Thr305Met) single nucleotide variant Likely benign rs200010805 GRCh38 Chromosome 12, 121843750: 121843750

Expression for Tyrosinemia

Search GEO for disease gene expression data for Tyrosinemia.

Pathways for Tyrosinemia

Pathways related to Tyrosinemia according to KEGG:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Phenylalanine metabolism hsa00360

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 9.23 ALAD CYCS FAH GSTZ1 HPD PAH

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.5 ALAD GSTZ1 PAH
2 tyrosine catabolic process GO:0006572 9.46 FAH GSTZ1 HPD TAT
3 response to glucocorticoid GO:0051384 9.4 ALAD TAT
4 cellular amino acid metabolic process GO:0006520 9.37 PTS TAT
5 L-phenylalanine catabolic process GO:0006559 9.35 FAH GSTZ1 HPD PAH TAT
6 response to mercury ion GO:0046689 9.26 ALAD TAT
7 aromatic amino acid family metabolic process GO:0009072 9.02 FAH GSTZ1 HPD PAH TAT

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 AFP ALAD CYCS FAH HPD PAH

Sources for Tyrosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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