Tyrosinemia, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TYRSN1 MCID: TYR012 MIFTS: 61	Tyrosinemia, Type I (TYRSN1) Categories: Blood diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental 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 ¹³ ³⁷ ⁷¹

Tyrosinemia Type I ¹² ²⁵ ²⁰ ⁵⁸ ⁷³ ²⁹ ⁵⁴ ⁶ ¹⁵ ³⁹

Hepatorenal Tyrosinemia ⁵⁷ ¹² ⁷⁴ ²⁵ ²⁰ ⁵⁸ ⁷³

Fumarylacetoacetase Deficiency ⁵⁷ ²⁵ ²⁰ ⁵⁸ ⁷³

Fah Deficiency ⁵⁷ ²⁵ ²⁰ ⁵⁸ ⁷³

Fumarylacetoacetate Hydrolase Deficiency ²⁵ ⁵⁸

Tyrosinemia Type 1 ²⁰ ⁵⁸

Tyrsn1 ⁵⁷ ⁷³

Tyrosinemia 1 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

tyrosinemia type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/100000,1-5/10000; Age of onset: All ages; Age of death: any age;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

tyrosinemia, type i:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Eye diseases Skin diseases Gastrointestinal diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

Orphanet: ⁵⁸

Rare neurological diseases

Rare hepatic diseases

Rare renal diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0050726

OMIM® ⁵⁷ 276700

OMIM Phenotypic Series ⁵⁷ PS276700

MeSH ⁴⁴ D020176

ICD10 via Orphanet ³³ E70.2

UMLS via Orphanet ⁷² C0268490

Orphanet ⁵⁸ ORPHA882

MedGen ⁴¹ C0268490

UMLS ⁷¹ C0268490

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Summaries for Tyrosinemia, Type I

GARD : ²⁰ Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations 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. Treatment should be started as soon as the condition is diagnosed and includes a diet restricted in tyrosine and phenylalanine along with nitisinone, a medication that blocks the second step in the tyrosine degradation pathway.

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

Disease Ontology : ¹² 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.

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 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Tyrosinemia 1: 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.

Wikipedia : ⁷⁴ Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine,... more...

GeneReviews: NBK1515

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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 114)

#	Related Disease	Score	Top Affiliating Genes
1	tyrosinemia	31.8	TAT HPD GSTZ1 FAH CYCS ALAD
2	glycine n-methyltransferase deficiency	31.6	GNMT AHCY
3	liver disease	30.8	SERPINA1 FAH CYCS AFP
4	inherited metabolic disorder	30.1	SERPINA1 PCSK9 NAGS
5	hepatoblastoma	30.0	OTC CYCS AFP
6	hypermethioninemia	30.0	GNMT FAH AHCY
7	alkaptonuria	29.8	TAT HPD HGD GSTZ1 FAH
8	abdominal obesity-metabolic syndrome 1	29.6	TYR OTC HGD FAH
9	tyrosinosis	11.1
10	bile acid synthesis defect, congenital, 1	11.1
11	maleylacetoacetate isomerase deficiency	11.1
12	folate malabsorption, hereditary	11.1
13	bile acid synthesis defect, congenital, 2	11.1
14	pediatric hepatocellular carcinoma	11.1
15	autosomal recessive disease	10.5
16	rickets	10.4
17	fanconi syndrome	10.3
18	porphyria	10.3
19	liver cirrhosis	10.3
20	polyembryoma	10.2	SERPINA1 AFP
21	ovarian mixed germ cell neoplasm	10.2	SERPINA1 AFP
22	pancreatitis	10.2
23	acute liver failure	10.2
24	liver sarcoma	10.2	SERPINA1 AFP
25	phenylketonuria	10.2
26	bile duct cysts	10.2	SERPINA1 AFP
27	hawkinsinuria	10.2	TAT HPD FAH
28	esophageal varix	10.2	SERPINA1 AFP
29	pancreatoblastoma	10.1	SERPINA1 AFP
30	glutathione synthetase deficiency	10.1
31	hepatic tuberculosis	10.1	SERPINA1 AFP
32	galactosemia i	10.1
33	hypophosphatemic rickets, x-linked recessive	10.1
34	non-alcoholic fatty liver disease	10.1
35	renal tubular acidosis	10.1
36	hypoglycemia	10.1
37	hemifacial microsomia	10.1
38	hypophosphatemia	10.1
39	craniofacial microsomia	10.1
40	carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	10.0	OTC NAGS
41	tyrosinemia, type iii	10.0	TAT HPD HGD FAH
42	renal osteodystrophy	10.0
43	carbonic anhydrase va deficiency, hyperammonemia due to	10.0	OTC NAGS
44	neu-laxova syndrome 2	10.0	TAT NAGS
45	hepatocellular carcinoma	10.0
46	keratitis, hereditary	10.0
47	porphyria, acute intermittent	10.0
48	volvulus of midgut	10.0
49	hypertelorism, preauricular sinus, punctal pits, and deafness	10.0
50	bone disease	10.0

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

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Symptoms & Phenotypes for Tyrosinemia, Type I

Human phenotypes related to Tyrosinemia, Type I:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized aminoaciduria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002909
2	splenomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001744
3	hepatomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002240
4	acute hepatic failure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006554
5	hepatocellular carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001402
6	rickets of the lower limbs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006463
7	failure to thrive ³¹			HP:0001508
8	renal insufficiency ³¹			HP:0000083
9	hypoglycemia ³¹			HP:0001943
10	ascites ³¹			HP:0001541
11	elevated hepatic transaminase ³¹			HP:0002910
12	cirrhosis ³¹			HP:0001394
13	hypertrophic cardiomyopathy ³¹			HP:0001639
14	nephrocalcinosis ³¹			HP:0000121
15	gastrointestinal hemorrhage ³¹			HP:0002239
16	abnormal bleeding ³¹			HP:0001892
17	abnormality of coagulation ³¹			HP:0001928
18	enlarged kidney ³¹			HP:0000105
19	elevated alpha-fetoprotein ³¹			HP:0006254
20	pancreatic islet-cell hyperplasia ³¹			HP:0004510
21	periodic paralysis ³¹			HP:0003768
22	renal fanconi syndrome ³¹			HP:0001994
23	abnormality of the abdominal wall ³¹			HP:0004298
24	elevated urinary delta-aminolevulinic acid ³¹			HP:0003163
25	hypophosphatemic rickets ³¹			HP:0004912
26	hypermethioninemia ³¹			HP:0003235
27	paralytic ileus ³¹			HP:0002590
28	hypertyrosinemia ³¹			HP:0003231
29	glomerular sclerosis ³¹			HP:0000096
30	episodic peripheral neuropathy ³¹			HP:0006949

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 05-Mar-2021)

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00297-A	8.92	AHCY CYCS DGUOK TAT

MGI Mouse Phenotypes related to Tyrosinemia, Type I:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.07	AFP ALAD ASL DGUOK FAH GNMT
2	behavior/neurological	MP:0005386	10.06	AFP AHCY ALAD ASL CYCS DGUOK
3	mortality/aging	MP:0010768	9.77	AFP AHCY ALAD ASL CYCS DGUOK
4	liver/biliary system	MP:0005370	9.76	AFP DGUOK FAH GNMT GSTZ1 HGD
5	renal/urinary system	MP:0005367	9.23	ASL DGUOK FAH GSTZ1 HGD HPD

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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

Nitisinone

Approved, Investigational

104206-65-7

115355

Synonyms:

104206-65-7

2-(2-Nitro-4-(trifluoromethyl)benzoyl)cyclohexane-1,3-dione

2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione

2-(a,a,a-Trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(alpha,alpha,alpha-Trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(Α,α,α-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione

2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione

AC1L3GZK

BIDD:PXR0129

C14H10F3NO5

CHEBI:50378

CHEMBL1337

CID115355

D05177

DB00348

FE-0200

LS-56815

nitisinona

Nitisinona

Nitisinone

Nitisinone (JAN/USAN/INN)

Nitisinone (NTBC)

Nitisinone [INN]

Nitisinone [USAN:INN]

nitisinonum

Nitisinonum

Nitisone

NTBC CPD

Orfadin

Orfadin (TN)

SC 0735

UNII-K5BN214699

Interventional clinical trials:

#	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	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
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	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
7	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
8	Hereditary Hepatorenal Tyrosinemia Natural History (Multicenter Clinical Study): Registry for Patients With Tyrosinemia Type I in Egypt and the Arab World	Recruiting	NCT03446586
9	BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol	Active, not recruiting	NCT03284658
10	Orfadin and Nitinosine Study	Not yet recruiting	NCT04113772		Nitisinone;Orfadin

Search NIH Clinical Center for Tyrosinemia, Type I

Cell-based therapeutics:

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 22167636 22789058 9580649 15239608

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Genetic Tests for Tyrosinemia, Type I

Genetic tests related to Tyrosinemia, Type I:

#	Genetic test	Affiliating Genes
1	Tyrosinemia Type I ²⁹	FAH

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Anatomical Context for Tyrosinemia, Type I

MalaCards organs/tissues related to Tyrosinemia, Type I:

⁴⁰

Liver, Pancreatic Islet, Kidney, Bone Marrow, Bone, Cortex

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

Sources

Publications for Tyrosinemia, Type I

Articles related to Tyrosinemia, Type I:

(show top 50) (show all 320)

#	Title	Authors	PMID	Year
1	Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. ²⁵ ⁶¹ ⁵⁴ ⁶	Poudrier J...Tanguay RM	9705236	1998
2	Self-induced correction of the genetic defect in tyrosinemia type I. ⁵⁴ ⁶¹ ²⁵ ⁵⁷	Kvittingen EA...Brandtzaeg P	7929843	1994
3	A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. ⁶¹ ⁶ ⁵⁷	Grompe M...Tanguay RM	8028615	1994
4	Fumarylacetoacetase mutations in tyrosinaemia type I. ⁶ ⁵⁷	Rootwelt H...Kvittingen EA	8829657	1996
5	Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. ²⁵ ⁵⁷	Bliksrud YT...Kvittingen EA	15759101	2005
6	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. ⁵⁷ ⁶¹ ⁵⁴	Arranz JA...Riudor E	12203990	2002
7	Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. ²⁵ ⁶	Kim SZ...Levy HL	11196105	2000
8	Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. ⁵⁴ ⁵⁷ ⁶¹	Prieto-Alamo MJ...Laval F	9770534	1998
9	Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. ⁵⁷ ⁵⁴ ⁶¹	Overturf K...Grompe M	9095403	1997
10	Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. ⁶¹ ⁵⁴ ⁵⁷	St-Louis M...Tanguay RM	9101289	1997
11	Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. ⁶ ⁶¹ ⁵⁴	St-Louis M...Tanguay RM	8162054	1994
12	Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. ⁵⁷ ⁶¹ ⁵⁴	Kvittingen EA...Berger R	8473520	1993
13	Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. ⁶¹ ⁵⁴ ⁶	Grompe M...al-Dhalimy M	8318997	1993
14	Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). ⁵⁴ ⁵⁷ ⁶¹	Tanguay RM...Plante M	2378356	1990
15	Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. ⁶¹ ⁵⁴ ⁵⁷	Laberge C...Morissette J	2378358	1990
16	Neurologic crises in hereditary tyrosinemia. ⁵⁷ ²⁵	Mitchell G...Larbrisseau A	2153931	1990
17	Laboratory monitoring of patients with hereditary tyrosinemia type I. ⁶¹ ⁵⁷	Schultz MJ...Matern D	32546364	2020
18	A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. ²⁵ ⁶¹ ⁵⁴	Cassiman D...Jaeken J	20003495	2009
19	No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients. ⁶¹ ⁵⁴ ²⁵	Bergeron A...Tanguay RM	15521007	2004
20	Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. ⁵⁴ ⁶¹ ²⁵	Demers SI...Tanguay RM	14691918	2003
21	Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. ⁶¹ ⁵⁴ ²⁵	Elpeleg ON...Hurvitz H	11754109	2002
22	Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. ⁵⁴ ⁶¹ ²⁵	Schulze A...Mayatepek E	11468232	2001
23	Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. ⁵⁷ ⁶¹	Timmers C...Grompe M	8723690	1996
24	The nephropathy of type I tyrosinemia after liver transplantation. ⁵⁷ ⁵⁴	Laine J...Holmberg C	7603784	1995
25	Two novel mutations involved in hereditary tyrosinemia type I. ⁶ ⁶¹	St-Louis M...Tanguay RM	7757089	1995
26	Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. ⁶¹ ⁵⁷	Rootwelt H...Kvittingen EA	7977370	1994
27	Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. ⁵⁷ ⁶¹	Demers SI...Tanguay RM	7913582	1994
28	Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. ⁶¹ ⁵⁷	Kvittingen EA...Berger R	1594329	1992
29	Visceral pathology of hereditary tyrosinemia type I. ⁵⁷ ⁶¹	Russo P...O'Regan S	2378357	1990
30	Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. ⁵⁷ ⁶¹	De Braekeleer M...Larochelle J	2378355	1990
31	Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. ⁵⁷ ⁶¹	Dehner LP...Day DL	2536631	1989
32	Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. ²⁵ ⁶¹	Chinsky JM...Scott CR	28771246	2017
33	Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. ⁶¹ ²⁵	Blackburn PR...Ekker SC	27397503	2016
34	Single dose NTBC-treatment of hereditary tyrosinemia type I. ²⁵ ⁶¹	Schlune A...Spiekerkoetter U	22307209	2012
35	Maternal and fetal tyrosinemia type I. ⁶¹ ²⁵	Garcia Segarra N...Ogier de Baulny H	23250512	2010
36	Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. ²⁵ ⁶¹	van Spronsen FJ...Wijburg FA	15625434	2005
37	Corneal opacities associated with NTBC treatment. ²⁵ ⁶¹	Ahmad S...Lueder GT	12140036	2002
38	Carnitine-deficient myopathy as a presentation of tyrosinemia type I. ⁶¹ ²⁵	Nissenkorn A...Lerman-Sagie T	11575602	2001
39	Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. ⁵⁷	Aponte JL...Johnson DK	11209059	2001
40	Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). ⁵⁷	Holme E...Lindstedt S	9728331	1998
41	Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. ⁵⁷	Kubo S...Endo F	9689118	1998
42	Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. ⁵⁷	Endo F...Matsuda I	9305902	1997
43	Round two for liver gene therapy. ⁵⁷	Wilson JM	8589710	1996
44	Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. ⁵⁷	Overturf K...Grompe M	8589717	1996
45	Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. ⁶	St-Louis M...Tanguay RM	8723698	1996
46	Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. ⁵⁷	Grompe M...Finegold M	7545495	1995
47	Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. ⁵⁷	Hahn SH...Gahl WA	7550234	1995
48	Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. ⁶¹ ²⁵	van Spronsen FJ...Heymans HS	7927251	1994
49	Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. ⁶	Labelle Y...Tanguay RM	8364576	1993
50	Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization. ⁵⁷	Sokal EM...Otte JB	1440864	1992

Sources

Genes for Tyrosinemia, Type I

Genes related to Tyrosinemia, Type I (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	1717	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Variants (show sections)	1401056 8364576 20003495 (more) 12203990 7702626 8318997 8473520 7929843 11532983 1644288 2378356 7616655 8776026 1350265 14691918 11476670 11262262 10508789 9101289 9095403 7603784 15531838 9770534 8162054 15521007 11754109 11154690 12127941 9705236 1524868 16414314 15465000 12899938 2378358
2	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	26.15	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	20003495 14668946 12127941
3	GSTZ1	Glutathione S-Transferase Zeta 1	Protein Coding	24.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15531838
4	ALAD	Aminolevulinate Dehydratase	Protein Coding	21.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7616655 11468232
5	AFP	Alpha Fetoprotein	Protein Coding	19.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	17008115
6	CYCS	Cytochrome C, Somatic	Protein Coding	10.64	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	TAT	Tyrosine Aminotransferase	Protein Coding	6	DISEASES inferred ¹⁵
8	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	5.78	DISEASES inferred ¹⁵
9	AHCY	Adenosylhomocysteinase	Protein Coding	5.59	DISEASES inferred ¹⁵
10	SERPINA1	Serpin Family A Member 1	Protein Coding	5.54	DISEASES inferred ¹⁵
11	OTC	Ornithine Transcarbamylase	Protein Coding	5.46	DISEASES inferred ¹⁵
12	GNMT	Glycine N-Methyltransferase	Protein Coding	5.41	DISEASES inferred ¹⁵
13	PCSK9	Proprotein Convertase Subtilisin/Kexin Type 9	Protein Coding	5.3	DISEASES inferred ¹⁵
14	NAGS	N-Acetylglutamate Synthase	Protein Coding	5.19	DISEASES inferred ¹⁵
15	TYR	Tyrosinase	Protein Coding	5.08	DISEASES inferred ¹⁵
16	ASL	Argininosuccinate Lyase	Protein Coding	5.01	DISEASES inferred ¹⁵
17	DGUOK	Deoxyguanosine Kinase	Protein Coding	4.96	DISEASES inferred ¹⁵

Sources

Variations for Tyrosinemia, Type I

ClinVar genetic disease variations for Tyrosinemia, Type I:

⁶ (show top 50) (show all 203)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FAH	NM_000137.3(FAH):c.1021C>T (p.Arg341Trp)	SNV	Benign/Likely benign, other	11868	rs11555096	15:80472526-80472526	15:80180184-80180184
2	FAH	NM_000137.3(FAH):c.698A>T (p.Asp233Val)	SNV	Pathogenic	21057	rs80338897	15:80464582-80464582	15:80172240-80172240
3	FAH	NM_000137.3(FAH):c.47A>T (p.Asn16Ile)	SNV	Pathogenic	11865	rs121965073	15:80445443-80445443	15:80153101-80153101
4	FAH	NM_000137.3(FAH):c.836A>G (p.Gln279Arg)	SNV	Pathogenic	11875	rs121965078	15:80465485-80465485	15:80173143-80173143
5	FAH	NM_000137.3(FAH):c.786G>A (p.Trp262Ter)	SNV	Pathogenic	11873	rs80338899	15:80465435-80465435	15:80173093-80173093
6	FAH	NM_000137.3(FAH):c.1090G>T (p.Glu364Ter)	SNV	Pathogenic	11867	rs121965076	15:80473411-80473411	15:80181069-80181069
7	FAH	NM_000137.3(FAH):c.709C>T (p.Arg237Ter)	SNV	Pathogenic	437463	rs769550316	15:80465358-80465358	15:80173016-80173016
8	FAH	NM_000137.3(FAH):c.1210G>A (p.Gly404Ser)	SNV	Pathogenic	459903	rs1297118863	15:80478501-80478501	15:80186159-80186159
9	FAH	NM_000137.3(FAH):c.1025C>T (p.Pro342Leu)	SNV	Pathogenic	551024	rs779040832	15:80472530-80472530	15:80180188-80180188
10	FAH	NM_000137.3(FAH):c.835del (p.Gln279fs)	Deletion	Pathogenic	551130	rs1555441703	15:80465484-80465484	15:80173142-80173142
11	FAH	NM_000137.3(FAH):c.707-1G>A	SNV	Pathogenic	558607	rs149052294	15:80465355-80465355	15:80173013-80173013
12	FAH	NM_000137.3(FAH):c.1027G>T (p.Gly343Trp)	SNV	Pathogenic	576751	rs970505762	15:80472532-80472532	15:80180190-80180190
13	FAH	NM_000137.3(FAH):c.82_83del (p.Pro28fs)	Deletion	Pathogenic	635516	rs1595889891	15:80450402-80450403	15:80158060-80158061
14	FAH	NM_000137.4(FAH):c.978dup (p.Leu327fs)	Duplication	Pathogenic	656983	rs1595897321	15:80472482-80472483	15:80180140-80180141
15	FAH	NM_000137.3(FAH):c.1A>G (p.Met1Val)	SNV	Pathogenic	372766	rs1057517972	15:80445397-80445397	15:80153055-80153055
16	FAH	NM_000137.4(FAH):c.1003_1004del (p.Val335fs)	Deletion	Pathogenic	803110	rs1595897345	15:80472507-80472508	15:80180165-80180166
17	FAH	NM_000137.4(FAH):c.982C>T (p.Gln328Ter)	SNV	Pathogenic	813492	rs765134063	15:80472487-80472487	15:80180145-80180145
18	FAH	NM_000137.4(FAH):c.1180+1G>A	SNV	Pathogenic	813493	rs980415517	15:80473502-80473502	15:80181160-80181160
19	FAH	NC_000015.10:g.(?_80177527)_(80186219_?)del	Deletion	Pathogenic	830521		15:80469869-80478561
20	FAH	NM_000137.4(FAH):c.1063-1G>A	SNV	Pathogenic	848070		15:80473383-80473383	15:80181041-80181041
21	FAH	NM_000137.4(FAH):c.221del (p.Gly74fs)	Deletion	Pathogenic	862144		15:80452124-80452124	15:80159782-80159782
22	FAH	NM_000137.4(FAH):c.707-1G>C	SNV	Pathogenic	928612		15:80465355-80465355	15:80173013-80173013
23	FAH	NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	SNV	Pathogenic	928613		15:80454647-80454647	15:80162305-80162305
24	FAH	NM_000137.4(FAH):c.1030del (p.Asp344fs)	Deletion	Pathogenic	945587		15:80472531-80472531	15:80180189-80180189
25	FAH	NM_000137.4(FAH):c.3G>A (p.Met1Ile)	SNV	Pathogenic	950962		15:80445399-80445399	15:80153057-80153057
26	FAH	NM_000137.4(FAH):c.535_536del (p.Gln179fs)	Deletion	Pathogenic	957168		15:80460472-80460473	15:80168130-80168131
27	FAH	NM_000137.4(FAH):c.615dup (p.Val206fs)	Duplication	Pathogenic	937956		15:80464492-80464493	15:80172150-80172151
28	FAH	NM_000137.4(FAH):c.354del (p.Ala119fs)	Deletion	Pathogenic	966300		15:80452791-80452791	15:80160449-80160449
29	FAH	NM_000137.4(FAH):c.1062+5G>A	SNV	Pathogenic	11870	rs80338901	15:80472572-80472572	15:80180230-80180230
30	FAH	NM_000137.3(FAH):c.1069G>T (p.Glu357Ter)	SNV	Pathogenic	11871	rs121965075	15:80473390-80473390	15:80181048-80181048
31	FAH	NM_000137.3(FAH):c.554-1G>T	SNV	Pathogenic	11874	rs80338895	15:80460605-80460605	15:80168263-80168263
32	FAH	NM_000137.3(FAH):c.192G>T (p.Gln64His)	SNV	Pathogenic	21054	rs80338894	15:80450512-80450512	15:80158170-80158170
33	FAH	NM_000137.3(FAH):c.782C>T (p.Pro261Leu)	SNV	Pathogenic/Likely pathogenic	21058	rs80338898	15:80465431-80465431	15:80173089-80173089
34	FAH	NM_000137.3(FAH):c.520C>T (p.Arg174Ter)	SNV	Pathogenic/Likely pathogenic	188751	rs781496816	15:80460458-80460458	15:80168116-80168116
35	FAH	NM_000137.3(FAH):c.456G>A (p.Trp152Ter)	SNV	Pathogenic/Likely pathogenic	92445	rs370686447	15:80460394-80460394	15:80168052-80168052
36	FAH	NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	SNV	Pathogenic/Likely pathogenic	813490	rs1567118987	15:80465375-80465375	15:80173033-80173033
37	FAH	NM_000137.3(FAH):c.1027G>A (p.Gly343Arg)	SNV	Pathogenic/Likely pathogenic	558592	rs970505762	15:80472532-80472532	15:80180190-80180190
38	FAH	NM_000137.4(FAH):c.553+2_553+3del	Microsatellite	Pathogenic/Likely pathogenic	552185	rs1555441272	15:80460491-80460492	15:80168149-80168150
39	FAH	NM_000137.3(FAH):c.1009G>A (p.Gly337Ser)	SNV	Pathogenic/Likely pathogenic	11869	rs80338900	15:80472514-80472514	15:80180172-80180172
40	FAH	NM_000137.3(FAH):c.706+2T>G	SNV	Pathogenic/Likely pathogenic	550532	rs1555441597	15:80464592-80464592	15:80172250-80172250
41	FAH	NM_000137.3(FAH):c.192+1G>T	SNV	Pathogenic/Likely pathogenic	189085	rs786204683	15:80450513-80450513	15:80158171-80158171
42	FAH	NM_000137.3(FAH):c.607-1G>A	SNV	Likely pathogenic	188755	rs771712041	15:80464490-80464490	15:80172148-80172148
43	FAH	NM_000137.3(FAH):c.1190del (p.Gln397fs)	Deletion	Likely pathogenic	188907	rs786204551	15:80478481-80478481	15:80186139-80186139
44	FAH	NM_000137.3(FAH):c.492del (p.Ser165fs)	Deletion	Likely pathogenic	371234	rs1057517113	15:80460429-80460429	15:80168087-80168087
45	FAH	NM_000137.3(FAH):c.1258T>C (p.Ter420Arg)	SNV	Likely pathogenic	371623	rs1057516631	15:80478549-80478549	15:80186207-80186207
46	FAH	NM_000137.3(FAH):c.438del (p.Asn146fs)	Deletion	Likely pathogenic	370316	rs779642226	15:80454661-80454661	15:80162319-80162319
47	FAH	NM_000137.3(FAH):c.14del (p.Pro5fs)	Deletion	Likely pathogenic	371526	rs1057517341	15:80445408-80445408	15:80153066-80153066
48	FAH	NM_000137.3(FAH):c.314+1G>A	SNV	Likely pathogenic	370334	rs1057516408	15:80452220-80452220	15:80159878-80159878
49	FAH	NM_000137.3(FAH):c.1181-1G>A	SNV	Likely pathogenic	370230	rs1057516333	15:80478471-80478471	15:80186129-80186129
50	FAH	NM_000137.3(FAH):c.776_777TC[2] (p.Pro261fs)	Microsatellite	Likely pathogenic	371645	rs1057517436	15:80465425-80465426	15:80173083-80173084

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	rs155544159
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

Sources

Expression for Tyrosinemia, Type I

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

Sources

Pathways for Tyrosinemia, Type I

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.48	TYR TAT PCSK9 OTC NAGS HPD
2	Viral mRNA Translation ⁶⁵ Show member pathways Cap-dependent Translation Initiation ⁶⁵ CFTR translational fidelity (class I mutations) ²³ Coronavirus disease - COVID-19 ³⁶ Cysteine formation from homocysteine ⁶⁵ Cytoplasmic Ribosomal Proteins ¹ Eukaryotic Translation Elongation ⁶⁵ Eukaryotic Translation Initiation ⁶⁵ Eukaryotic Translation Termination ⁶⁵ Formation of a pool of free 40S subunits ⁶⁵ glutathione redox reactions II ¹ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁵ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁵ Metabolism of amino acids and derivatives ⁶⁵ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁵ Metabolism of ingested MeSeO2H into MeSeH ⁶⁵ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁵ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁵ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁵ Nonsense-Mediated Decay (NMD) ⁶⁵ Peptide chain elongation ⁶⁵ Ribosome ³⁶ Selenoamino acid metabolism ⁶⁵ Selenocysteine synthesis ⁶⁵ SRP-dependent cotranslational protein targeting to membrane ⁶⁵ sulfate activation for sulfonation ¹ Translation ⁶⁵	13.44	TYR TAT OTC NAGS HPD HGD
3	Biosynthesis of cofactors ³⁶ Show member pathways Ubiquinone and other terpenoid-quinone biosynthesis ³⁶	11.83	TAT HPD ALAD
4	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁵ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁵ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁵ Proline catabolism ⁶⁵ proline degradation ¹ Tryptophan catabolism ⁶⁵ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.64	TAT HPD HGD GSTZ1 FAH
5	Amino Acid metabolism ¹	11.54	TAT OTC FAH
6	Phenylalanine metabolism ³⁶ Show member pathways aspartate biosynthesis ¹ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁶ Tyrosine metabolism ³⁶ Tyrosine metabolism p.1 (dopamine) ²³	11	TYR TAT HPD HGD GSTZ1 FAH
7	Arginine biosynthesis ³⁶ Show member pathways citrulline-nitric oxide cycle ¹	10.98	OTC NAGS ASL
8	Urea cycle and metabolism of amino groups ¹ Show member pathways proline biosynthesis ¹ putrescine biosynthesis I ¹ spermine biosynthesis ¹	10.88	OTC NAGS ASL

Sources

GO Terms for Tyrosinemia, Type I

Cellular components related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	9.4	TYR TAT HPD HGD GSTZ1 GNMT
2	mitochondrial matrix	GO:0005759	9.26	OTC NAGS GSTZ1 DGUOK

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular amino acid metabolic process	GO:0006520	9.54	TAT OTC HGD
2	urea cycle	GO:0000050	9.5	OTC NAGS ASL
3	response to zinc ion	GO:0010043	9.48	OTC ALAD
4	glutamate metabolic process	GO:0006536	9.46	TAT NAGS
5	aromatic amino acid family metabolic process	GO:0009072	9.46	TAT HPD GSTZ1 FAH
6	response to mercury ion	GO:0046689	9.43	TAT ALAD
7	arginine biosynthetic process	GO:0006526	9.43	OTC NAGS ASL
8	arginine biosynthetic process via ornithine	GO:0042450	9.4	OTC ASL
9	L-phenylalanine catabolic process	GO:0006559	9.35	TAT HPD HGD GSTZ1 FAH
10	tyrosine catabolic process	GO:0006572	9.02	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	catalytic activity	GO:0003824	9.35	TAT GSTZ1 FAH ASL ALAD
2	identical protein binding	GO:0042802	9.32	TYR TAT SERPINA1 OTC HGD GSTZ1
3	amino acid binding	GO:0016597	9.16	TAT OTC

Sources

Sources for Tyrosinemia, Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Tyrosinemia, Type I (TYRSN1)

Aliases & Classifications for Tyrosinemia, Type I

MalaCards integrated aliases for Tyrosinemia, Type I:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Tyrosinemia, Type I

Related Diseases for Tyrosinemia, Type I

Diseases in the Tyrosinemia family:

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

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

Symptoms & Phenotypes for Tyrosinemia, Type I

Human phenotypes related to Tyrosinemia, Type I:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Tyrosinemia, Type I:

Drugs & Therapeutics for Tyrosinemia, Type I

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

Interventional clinical trials:

Cell-based therapeutics:

Genetic Tests for Tyrosinemia, Type I

Genetic tests related to Tyrosinemia, Type I:

Anatomical Context for Tyrosinemia, Type I

MalaCards organs/tissues related to Tyrosinemia, Type I:

Publications for Tyrosinemia, Type I

Articles related to Tyrosinemia, Type I:

Genes for Tyrosinemia, Type I

Genes related to Tyrosinemia, Type I (1 elite genes):

Variations for Tyrosinemia, Type I

ClinVar genetic disease variations for Tyrosinemia, Type I:

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

Expression for Tyrosinemia, Type I

Pathways for Tyrosinemia, Type I

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

GO Terms for Tyrosinemia, Type I

Cellular components related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:

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

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

Sources for Tyrosinemia, Type I