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

TYRSN3 MCID: TYR011 MIFTS: 44	Tyrosinemia, Type Iii (TYRSN3) 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
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Aliases & Classifications for Tyrosinemia, Type Iii

MalaCards integrated aliases for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii ⁵⁸ ¹³ ⁴¹ ⁷⁴

4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵⁸ ⁵⁴ ⁷⁶ ³⁰ ⁶

Tyrosinemia Type Iii ¹² ⁵⁴ ⁶⁰ ⁷⁶ ¹⁵

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵⁸ ⁷⁶

Tyrosinemia Type 3 ⁵⁴ ⁶⁰

Tyrsn3 ⁵⁸ ⁷⁶

Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁶⁰

Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁶⁰

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵⁴

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵⁴

4-Hydroxyphenylpyruvate Dioxygenase ¹³

Tyrosinemia Due to Hpd Deficiency ⁶⁰

Tyrosinemia 3 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

tyrosinemia type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
allelic to hawkinsinuria

HPO:

³³

tyrosinemia, type iii:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

Orphanet: ⁶⁰

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0050727

OMIM ⁵⁸ 276710

MeSH ⁴⁵ D020176

ICD10 via Orphanet ³⁵ E70.2

UMLS via Orphanet ⁷⁵ C0268623

Orphanet ⁶⁰ ORPHA69723

MedGen ⁴³ C0268623

SNOMED-CT via HPO ⁷⁰ 128613002 235856003 246545002 more

UMLS ⁷⁴ C0268623

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Summaries for Tyrosinemia, Type Iii

NIH Rare Diseases : ⁵⁴ Tyrosinemia type 3 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 deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.

MalaCards based summary : Tyrosinemia, Type Iii, also known as 4-hydroxyphenylpyruvate dioxygenase deficiency, is related to tyrosinemia and hypertelorism, preauricular sinus, punctal pits, and deafness, and has symptoms including seizures An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Amino Acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and neutrophil, and related phenotypes are seizures and intellectual disability, mild

Disease Ontology : ¹² A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM : ⁵⁸ Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). (276710)

UniProtKB/Swiss-Prot : ⁷⁶ Tyrosinemia 3: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.

Wikipedia : ⁷⁷ Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate... more...

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Related Diseases for Tyrosinemia, Type Iii

Diseases in the Tyrosinemia family:

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

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

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	tyrosinemia	29.9	FAH HPD TAT
2	hypertelorism, preauricular sinus, punctal pits, and deafness	10.6
3	chromophobe renal cell carcinoma	10.4
4	renal oncocytoma	10.4
5	polycystic kidney disease	10.4
6	peripheral nervous system disease	10.2
7	neuropathy	10.2
8	primary orthostatic tremor	10.2
9	hawkinsinuria	10.0
10	status epilepticus	10.0
11	morquio syndrome	10.0
12	tyrosinemia, type i	9.8	FAH HPD
13	tyrosinemia, type ii	9.8	FAH TAT
14	alkaptonuria	9.7	FAH HPD

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

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Symptoms & Phenotypes for Tyrosinemia, Type Iii

Human phenotypes related to Tyrosinemia, Type Iii:

³³ (show all 6)

#	Description	HPO Source Accession
1	seizures ³³	HP:0001250
2	intellectual disability, mild ³³	HP:0001256
3	abnormality of the liver ³³	HP:0001392
4	4-hydroxyphenylpyruvic aciduria ³³	HP:0003161
5	4-hydroxyphenylacetic aciduria ³³	HP:0003607
6	hypertyrosinemia ³³	HP:0003231

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
mental retardation, mild

Abdomen Liver:
normal liver function

Laboratory Abnormalities:
4-hydroxyphenylpyruvic aciduria
4-hydroxyphenylacetic aciduria
4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)
tyrosinemia
4-hydroxyphenyllactic aciduria

Clinical features from OMIM:

276710

UMLS symptoms related to Tyrosinemia, Type Iii:

seizures

MGI Mouse Phenotypes related to Tyrosinemia, Type Iii:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system	MP:0005367	8.8	FAH GALNS HPD

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Drugs & Therapeutics for Tyrosinemia, Type Iii

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Nitisinone

Approved, Investigational

Phase 2, Phase 3,Phase 3,Phase 1

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-(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:

(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, Type Iii

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Genetic Tests for Tyrosinemia, Type Iii

Genetic tests related to Tyrosinemia, Type Iii:

#	Genetic test	Affiliating Genes
1	4-Hydroxyphenylpyruvate Dioxygenase Deficiency ³⁰	HPD

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Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

⁴²

Kidney, Bone, Neutrophil

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Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

#	Title	Authors	Year
1	Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. ( 29741470 )	Blundell J....Olson A.	2018
2	A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. ( 29456978 )	Najafi R....Hashemipour M.	2018
3	Tyrosinemia type III in an asymptomatic girl. ( 28649543 )	Szymanska E...Tylki-Szymanska A	2015
4	Tyrosinemia Type III detected via neonatal screening: management and outcome. ( 23036342 )	Heylen E....Nassogne M.C.	2012
5	Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. ( 18657947 )	D'Eufemia P....Zicari A.	2009
6	Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ( 11073718 )	Tomoeda K....Endo F.	2000
7	Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. ( 10942115 )	Rueetschi U....Holme E.	2000
8	Tyrosinemia type III: diagnosis and ten-year follow-up. ( 9343288 )	Cerone R....Romano C.	1997
9	Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. ( 6132360 )	Giardini O....D'Eufemia P.	1983

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Genes for Tyrosinemia, Type Iii

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	1674.62	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	10942115 9343288
2	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	15.88	DISEASES inferred ¹⁵
3	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	15.82	DISEASES inferred ¹⁵
4	HNRNPA2B1	Heterogeneous Nuclear Ribonucleoprotein A2/B1	Protein Coding	15.58	DISEASES inferred ¹⁵
5	TAT	Tyrosine Aminotransferase	Protein Coding	15.46	DISEASES inferred ¹⁵

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Variations for Tyrosinemia, Type Iii

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	HPD	p.Tyr160Cys	VAR_015445	rs137852865
2	HPD	p.Ala268Val	VAR_015447
3	HPD	p.Ile335Met	VAR_015448

ClinVar genetic disease variations for Tyrosinemia, Type Iii:

⁶ (show all 40)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HPD	NM_001171993.1(HPD): c.362A> G (p.Tyr121Cys)	single nucleotide variant	Pathogenic	rs137852865	GRCh37	Chromosome 12, 122287632: 122287632
2	HPD	NM_001171993.1(HPD): c.362A> G (p.Tyr121Cys)	single nucleotide variant	Pathogenic	rs137852865	GRCh38	Chromosome 12, 121849726: 121849726
3	HPD	NM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)	single nucleotide variant	Pathogenic	rs137852866	GRCh37	Chromosome 12, 122284825: 122284825
4	HPD	NM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)	single nucleotide variant	Pathogenic	rs137852866	GRCh38	Chromosome 12, 121846919: 121846919
5	HPD	NM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)	single nucleotide variant	Pathogenic	rs137852867	GRCh37	Chromosome 12, 122285117: 122285117
6	HPD	NM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)	single nucleotide variant	Pathogenic	rs137852867	GRCh38	Chromosome 12, 121847211: 121847211
7	HPD	NM_002150.2(HPD): c.1005C> G (p.Ile335Met)	single nucleotide variant	Likely benign	rs137852868	GRCh37	Chromosome 12, 122277904: 122277904
8	HPD	NM_002150.2(HPD): c.1005C> G (p.Ile335Met)	single nucleotide variant	Likely benign	rs137852868	GRCh38	Chromosome 12, 121839998: 121839998
9	HPD	NM_002150.2(HPD): c.97G> A (p.Ala33Thr)	single nucleotide variant	Benign	rs1154510	GRCh37	Chromosome 12, 122295335: 122295335
10	HPD	NM_002150.2(HPD): c.97G> A (p.Ala33Thr)	single nucleotide variant	Benign	rs1154510	GRCh38	Chromosome 12, 121857429: 121857429
11	HPD	NM_002150.2(HPD): c.414G> A (p.Thr138=)	single nucleotide variant	Benign	rs140788110	GRCh37	Chromosome 12, 122292609: 122292609
12	HPD	NM_002150.2(HPD): c.414G> A (p.Thr138=)	single nucleotide variant	Benign	rs140788110	GRCh38	Chromosome 12, 121854703: 121854703
13	HPD	NM_002150.2(HPD): c.1018G> T (p.Val340Leu)	single nucleotide variant	Benign/Likely benign	rs36023382	GRCh37	Chromosome 12, 122277891: 122277891
14	HPD	NM_002150.2(HPD): c.1018G> T (p.Val340Leu)	single nucleotide variant	Benign/Likely benign	rs36023382	GRCh38	Chromosome 12, 121839985: 121839985
15	HPD	NM_002150.2(HPD): c.338G> A (p.Arg113Gln)	single nucleotide variant	Benign	rs11833399	GRCh37	Chromosome 12, 122292685: 122292685
16	HPD	NM_002150.2(HPD): c.338G> A (p.Arg113Gln)	single nucleotide variant	Benign	rs11833399	GRCh38	Chromosome 12, 121854779: 121854779
17	HPD	NM_002150.2(HPD): c.813C> T (p.Thr271=)	single nucleotide variant	Benign	rs144416002	GRCh37	Chromosome 12, 122284786: 122284786
18	HPD	NM_002150.2(HPD): c.813C> T (p.Thr271=)	single nucleotide variant	Benign	rs144416002	GRCh38	Chromosome 12, 121846880: 121846880
19	HPD	NM_002150.2(HPD): c.499G> A (p.Asp167Asn)	single nucleotide variant	Benign/Likely benign	rs74820788	GRCh37	Chromosome 12, 122287612: 122287612
20	HPD	NM_002150.2(HPD): c.499G> A (p.Asp167Asn)	single nucleotide variant	Benign/Likely benign	rs74820788	GRCh38	Chromosome 12, 121849706: 121849706
21	HPD	NC_000012.12: g.(?_121843690)_(121847234_?)del	deletion	Pathogenic		GRCh38	Chromosome 12, 121843690: 121847234
22	HPD	NC_000012.12: g.(?_121843690)_(121847234_?)del	deletion	Pathogenic		GRCh37	Chromosome 12, 122281596: 122285140
23	HPD	NM_002150.2(HPD): c.760-7C> T	single nucleotide variant	Likely benign	rs748133768	GRCh37	Chromosome 12, 122284846: 122284846
24	HPD	NM_002150.2(HPD): c.760-7C> T	single nucleotide variant	Likely benign	rs748133768	GRCh38	Chromosome 12, 121846940: 121846940
25	HPD	NM_002150.2(HPD): c.109T> C (p.Cys37Arg)	single nucleotide variant	Uncertain significance	rs1246785384	GRCh37	Chromosome 12, 122295323: 122295323
26	HPD	NM_002150.2(HPD): c.109T> C (p.Cys37Arg)	single nucleotide variant	Uncertain significance	rs1246785384	GRCh38	Chromosome 12, 121857417: 121857417
27	HPD	NC_000012.12: g.(?_121839708)_(121840068_?)del	deletion	Uncertain significance		GRCh38	Chromosome 12, 121839708: 121840068
28	HPD	NC_000012.12: g.(?_121839708)_(121840068_?)del	deletion	Uncertain significance		GRCh37	Chromosome 12, 122277614: 122277974
29	HPD	NM_002150.2(HPD): c.1151delT (p.Met384Argfs)	deletion	Uncertain significance	rs1555339247	GRCh37	Chromosome 12, 122277665: 122277665
30	HPD	NM_002150.2(HPD): c.1151delT (p.Met384Argfs)	deletion	Uncertain significance	rs1555339247	GRCh38	Chromosome 12, 121839759: 121839759
31	HPD	NM_002150.2(HPD): c.345C> T (p.Ala115=)	single nucleotide variant	Benign	rs59741465	GRCh37	Chromosome 12, 122292678: 122292678
32	HPD	NM_002150.2(HPD): c.345C> T (p.Ala115=)	single nucleotide variant	Benign	rs59741465	GRCh38	Chromosome 12, 121854772: 121854772
33	HPD	NM_002150.2(HPD): c.75G> A (p.Trp25Ter)	single nucleotide variant	Pathogenic	rs367674632	GRCh37	Chromosome 12, 122295681: 122295681
34	HPD	NM_002150.2(HPD): c.75G> A (p.Trp25Ter)	single nucleotide variant	Pathogenic	rs367674632	GRCh38	Chromosome 12, 121857775: 121857775
35	HPD	NM_002150.2(HPD): c.544G> A (p.Asp182Asn)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 121849051: 121849051
36	HPD	NM_002150.2(HPD): c.544G> A (p.Asp182Asn)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 122286957: 122286957
37	HPD	NM_002150.2(HPD): c.43C> T (p.Arg15Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 12, 121857807: 121857807
38	HPD	NM_002150.2(HPD): c.43C> T (p.Arg15Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 12, 122295713: 122295713
39	HPD	NM_002150.2(HPD): c.485C> T (p.Ala162Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 121849720: 121849720
40	HPD	NM_002150.2(HPD): c.485C> T (p.Ala162Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 122287626: 122287626

Sources

Expression for Tyrosinemia, Type Iii

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

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Pathways for Tyrosinemia, Type Iii

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

#	Super pathways	Score	Top Affiliating Genes
1	Amino Acid metabolism ¹	11.22	FAH TAT
2	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁷ 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 ⁶⁷ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁷ Proline catabolism ⁶⁷ proline degradation ¹ Tryptophan catabolism ⁶⁷ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.22	FAH HPD TAT
3	Tyrosine metabolism ³⁸ Show member pathways Phenylalanine metabolism ³⁸ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁸ Tyrosine metabolism p.1 (dopamine) ²³	10.68	FAH HPD TAT
4	Ubiquinol biosynthesis ⁶⁷ Show member pathways ubiquinol-10 biosynthesis ¹ Ubiquinone and other terpenoid-quinone biosynthesis ³⁸	10.52	HPD TAT

Sources

GO Terms for Tyrosinemia, Type Iii

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	8.92	FAH GALNS HNRNPA2B1 HPD

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

#	Name	GO ID	Score	Top Affiliating Genes
1	L-phenylalanine catabolic process	GO:0006559	9.33	FAH HPD TAT
2	aromatic amino acid family metabolic process	GO:0009072	9.13	FAH HPD TAT
3	tyrosine catabolic process	GO:0006572	8.8	FAH HPD TAT

Sources

Sources for Tyrosinemia, Type Iii

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Tyrosinemia, Type Iii (TYRSN3)

Aliases & Classifications for Tyrosinemia, Type Iii

MalaCards integrated aliases for Tyrosinemia, Type Iii:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Tyrosinemia, Type Iii

Related Diseases for Tyrosinemia, Type Iii

Diseases in the Tyrosinemia family:

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

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

Symptoms & Phenotypes for Tyrosinemia, Type Iii

Human phenotypes related to Tyrosinemia, Type Iii:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Tyrosinemia, Type Iii:

MGI Mouse Phenotypes related to Tyrosinemia, Type Iii:

Drugs & Therapeutics for Tyrosinemia, Type Iii

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

Interventional clinical trials:

Genetic Tests for Tyrosinemia, Type Iii

Genetic tests related to Tyrosinemia, Type Iii:

Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

Genes for Tyrosinemia, Type Iii

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

Variations for Tyrosinemia, Type Iii

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

ClinVar genetic disease variations for Tyrosinemia, Type Iii:

Expression for Tyrosinemia, Type Iii

Pathways for Tyrosinemia, Type Iii

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

GO Terms for Tyrosinemia, Type Iii

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

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

Sources for Tyrosinemia, Type Iii