MCID: TYR012
MIFTS: 54

Tyrosinemia, Type I

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

Aliases & Classifications for Tyrosinemia, Type I

MalaCards integrated aliases for Tyrosinemia, Type I:

Name: Tyrosinemia, Type I 57 13 38 73
Tyrosinemia Type I 38 12 24 53 59 75 29 55 6 15 40
Hepatorenal Tyrosinemia 57 12 76 53 59 75
Fumarylacetoacetase Deficiency 57 53 59 75
Fah Deficiency 57 53 59 75
Tyrosinemia Type 1 53 59
Tyrsn1 57 75
Fumarylacetoacetate Hydrolase Deficiency 59
Fumarylacetoacetase 13
Tyrosinemia 1 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
tyrosinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tyrosinemia, Type I

NIH Rare Diseases : 53 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 maleylacetoacetate isomerase deficiency. An important gene associated with Tyrosinemia, Type I is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Tyrosine metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and kidney, and related phenotypes are splenomegaly and hepatomegaly

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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Type 1 tyrosinemia, also known as hepatorenal tyrosinemia or tyrosinosis, is the most severe form of... more...

GeneReviews:

Related Diseases for Tyrosinemia, Type I

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



Diseases related to Tyrosinemia, Type I

Symptoms & Phenotypes for Tyrosinemia, Type I

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
cirrhosis
acute liver failure

Skeletal:
rickets

Abdomen External Features:
ascites

Neoplasia:
hepatocellular carcinoma

Muscle Soft Tissue:
chronic weakness

Abdomen Pancreas:
pancreatic islet-cell hypertrophy

Neurologic Peripheral Nervous System:
episodic peripheral neuropathy

AbdomenSpleen:
splenomegaly

Laboratory Abnormalities:
hypophosphatemia
hypoglycemia
elevated hepatic transaminases
elevated alpha-fetoprotein
elevated urinary delta-aminolevulinic acid
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Genitourinary Kidneys:
nephrocalcinosis
glomerulosclerosis
renal fanconi syndrome
renal failure
nephromegaly

Metabolic Features:
renal fanconi syndrome
hypophosphatemic rickets

Abdomen Gastrointestinal:
paralytic ileus
gi bleeding

Neurologic Central Nervous System:
episodic paralysis

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


Clinical features from OMIM:

276700

Human phenotypes related to Tyrosinemia, Type I:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
4 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
5 generalized aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002909
6 rickets of the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006463
7 failure to thrive 32 HP:0001508
8 renal insufficiency 32 HP:0000083
9 hypertrophic cardiomyopathy 32 HP:0001639
10 hypoglycemia 32 HP:0001943
11 ascites 32 HP:0001541
12 abnormal bleeding 32 HP:0001892
13 elevated hepatic transaminases 32 HP:0002910
14 cirrhosis 32 HP:0001394
15 gastrointestinal hemorrhage 32 HP:0002239
16 nephrocalcinosis 32 HP:0000121
17 abnormality of coagulation 32 HP:0001928
18 elevated alpha-fetoprotein 32 HP:0006254
19 enlarged kidney 32 HP:0000105
20 pancreatic islet-cell hyperplasia 32 HP:0004510
21 glomerulosclerosis 32 HP:0000096
22 renal fanconi syndrome 32 HP:0001994
23 hypophosphatemic rickets 32 HP:0004912
24 abnormality of the abdominal wall 32 HP:0004298
25 periodic paralysis 32 HP:0003768
26 paralytic ileus 32 HP:0002590
27 elevated urinary delta-aminolevulinic acid 32 HP:0003163
28 episodic peripheral neuropathy 32 HP:0006949
29 hypermethioninemia 32 HP:0003235
30 hypertyrosinemia 32 HP:0003231

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 AFP ALAD FAH HPD

Drugs & Therapeutics for Tyrosinemia, Type I

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 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 Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study) Recruiting NCT03446586
10 Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 Recruiting NCT03284658
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 I

Cell-based therapeutics:


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

Genetic Tests for Tyrosinemia, Type I

Genetic tests related to Tyrosinemia, Type I:

# Genetic test Affiliating Genes
1 Tyrosinemia Type I 29 FAH

Anatomical Context for Tyrosinemia, Type I

MalaCards organs/tissues related to Tyrosinemia, Type I:

41
Liver, Kidney, Bone, Pancreatic Islet, Testes, Colon, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Tyrosinemia, Type I

Articles related to Tyrosinemia, Type I:

(show top 50) (show all 120)
# Title Authors Year
1
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. ( 28755185 )
2017
2
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. ( 28771246 )
2017
3
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. ( 28712060 )
2017
4
Tyrosinemia Type I in Japan: A Report of Five Cases. ( 28755191 )
2017
5
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. ( 28755189 )
2017
6
Newborn Screening for Hereditary Tyrosinemia Type I in QuAcbec: Update. ( 28755192 )
2017
7
Dietary Considerations in Tyrosinemia Type I. ( 28755197 )
2017
8
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. ( 27510266 )
2016
9
Tyrosinemia type I: Case series with response to treatment to NTBC. ( 27109516 )
2016
10
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. ( 27487552 )
2016
11
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. ( 27397503 )
2016
12
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I. ( 27308087 )
2016
13
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. ( 27271696 )
2016
14
Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. ( 26157182 )
2015
15
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya. ( 26495099 )
2015
16
Target-induced reconfiguration of DNA probes for recycling amplification and signal-on electrochemical detection of hereditary tyrosinemia type I gene. ( 26181647 )
2015
17
Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I. ( 26322918 )
2015
18
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico. ( 24552869 )
2014
19
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. ( 25066104 )
2014
20
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. ( 25117105 )
2014
21
Correction to LC-MS/MS Method for Simultaneous Determination on a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients with Tyrosinemia Type I. ( 25269025 )
2014
22
Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I. ( 24762634 )
2014
23
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients. ( 23649765 )
2013
24
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. ( 23895425 )
2013
25
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. ( 22495034 )
2013
26
Pregnancy in an NTBC-Treated Patient with Hereditary Tyrosinemia Type I. ( 23838819 )
2013
27
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. ( 24238861 )
2013
28
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. ( 23138988 )
2013
29
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong. ( 23000314 )
2013
30
LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. ( 22148291 )
2012
31
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. ( 22884142 )
2012
32
Behavioral and intellectual functioning in patients with tyrosinemia type I. ( 23146787 )
2012
33
Single dose NTBC-treatment of hereditary tyrosinemia type I. ( 22307209 )
2012
34
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential. ( 23430836 )
2011
35
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. ( 23430822 )
2011
36
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. ( 21112803 )
2011
37
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. ( 21504522 )
2011
38
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report. ( 22145516 )
2011
39
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. ( 21764616 )
2011
40
Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process. ( 21216241 )
2011
41
Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended. ( 21340489 )
2011
42
Determination of NTBC in serum samples from patients with hereditary tyrosinemia type I by capillary electrophoresis. ( 20152421 )
2010
43
Maternal and fetal tyrosinemia type I. ( 23250512 )
2010
44
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program. ( 19902423 )
2009
45
Preliminary proficiency testing results for succinylacetone in dried blood spots for newborn screening for tyrosinemia type I. ( 19850631 )
2009
46
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. ( 20003495 )
2009
47
Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy. ( 19039335 )
2008
48
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. ( 18278819 )
2008
49
Enhancing newborn screening for tyrosinemia type I. ( 18375485 )
2008
50
Messenger RNA as a source of transposase for sleeping beauty transposon-mediated correction of hereditary tyrosinemia type I. ( 17440442 )
2007

Variations for Tyrosinemia, Type I

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

75 (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
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

ClinVar genetic disease variations for Tyrosinemia, Type I:

6
(show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAH NM_000137.2(FAH): c.47A> T (p.Asn16Ile) single nucleotide variant Pathogenic rs121965073 GRCh37 Chromosome 15, 80445443: 80445443
2 FAH NM_000137.2(FAH): c.47A> T (p.Asn16Ile) single nucleotide variant Pathogenic rs121965073 GRCh38 Chromosome 15, 80153101: 80153101
3 FAH NM_000137.2(FAH): c.401C> A (p.Ala134Asp) single nucleotide variant Pathogenic rs121965074 GRCh37 Chromosome 15, 80454624: 80454624
4 FAH NM_000137.2(FAH): c.401C> A (p.Ala134Asp) single nucleotide variant Pathogenic rs121965074 GRCh38 Chromosome 15, 80162282: 80162282
5 FAH NM_000137.2(FAH): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs121965076 GRCh37 Chromosome 15, 80473411: 80473411
6 FAH NM_000137.2(FAH): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs121965076 GRCh38 Chromosome 15, 80181069: 80181069
7 FAH NM_000137.2(FAH): c.1009G> A (p.Gly337Ser) single nucleotide variant Likely pathogenic rs80338900 GRCh37 Chromosome 15, 80472514: 80472514
8 FAH NM_000137.2(FAH): c.1009G> A (p.Gly337Ser) single nucleotide variant Likely pathogenic rs80338900 GRCh38 Chromosome 15, 80180172: 80180172
9 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh37 Chromosome 15, 80472572: 80472572
10 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh38 Chromosome 15, 80180230: 80180230
11 FAH NM_000137.2(FAH): c.1069G> T (p.Glu357Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121965075 GRCh37 Chromosome 15, 80473390: 80473390
12 FAH NM_000137.2(FAH): c.1069G> T (p.Glu357Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121965075 GRCh38 Chromosome 15, 80181048: 80181048
13 FAH NM_000137.2(FAH): c.1141A> G (p.Arg381Gly) single nucleotide variant Pathogenic rs121965077 GRCh37 Chromosome 15, 80473462: 80473462
14 FAH NM_000137.2(FAH): c.1141A> G (p.Arg381Gly) single nucleotide variant Pathogenic rs121965077 GRCh38 Chromosome 15, 80181120: 80181120
15 FAH NM_000137.2(FAH): c.786G> A (p.Trp262Ter) single nucleotide variant Pathogenic rs80338899 GRCh37 Chromosome 15, 80465435: 80465435
16 FAH NM_000137.2(FAH): c.786G> A (p.Trp262Ter) single nucleotide variant Pathogenic rs80338899 GRCh38 Chromosome 15, 80173093: 80173093
17 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh37 Chromosome 15, 80460605: 80460605
18 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh38 Chromosome 15, 80168263: 80168263
19 FAH NM_000137.2(FAH): c.836A> G (p.Gln279Arg) single nucleotide variant Pathogenic rs121965078 GRCh37 Chromosome 15, 80465485: 80465485
20 FAH NM_000137.2(FAH): c.836A> G (p.Gln279Arg) single nucleotide variant Pathogenic rs121965078 GRCh38 Chromosome 15, 80173143: 80173143
21 FAH NM_000137.2(FAH): c.192G> T (p.Gln64His) single nucleotide variant Pathogenic rs80338894 GRCh37 Chromosome 15, 80450512: 80450512
22 FAH NM_000137.2(FAH): c.192G> T (p.Gln64His) single nucleotide variant Pathogenic rs80338894 GRCh38 Chromosome 15, 80158170: 80158170
23 FAH NM_000137.2(FAH): c.607-6T> G single nucleotide variant Pathogenic rs80338896 GRCh37 Chromosome 15, 80464485: 80464485
24 FAH NM_000137.2(FAH): c.607-6T> G single nucleotide variant Pathogenic rs80338896 GRCh38 Chromosome 15, 80172143: 80172143
25 FAH NM_000137.2(FAH): c.698A> T (p.Asp233Val) single nucleotide variant Pathogenic rs80338897 GRCh37 Chromosome 15, 80464582: 80464582
26 FAH NM_000137.2(FAH): c.698A> T (p.Asp233Val) single nucleotide variant Pathogenic rs80338897 GRCh38 Chromosome 15, 80172240: 80172240
27 FAH NM_000137.2(FAH): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338898 GRCh37 Chromosome 15, 80465431: 80465431
28 FAH NM_000137.2(FAH): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338898 GRCh38 Chromosome 15, 80173089: 80173089
29 FAH NM_000137.2(FAH): c.456G> A (p.Trp152Ter) single nucleotide variant Pathogenic rs370686447 GRCh37 Chromosome 15, 80460394: 80460394
30 FAH NM_000137.2(FAH): c.456G> A (p.Trp152Ter) single nucleotide variant Pathogenic rs370686447 GRCh38 Chromosome 15, 80168052: 80168052
31 FAH NM_000137.2(FAH): c.192+1G> T single nucleotide variant Likely pathogenic rs786204683 GRCh38 Chromosome 15, 80158171: 80158171
32 FAH NM_000137.2(FAH): c.192+1G> T single nucleotide variant Likely pathogenic rs786204683 GRCh37 Chromosome 15, 80450513: 80450513
33 FAH NM_000137.2(FAH): c.520C> T (p.Arg174Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781496816 GRCh37 Chromosome 15, 80460458: 80460458
34 FAH NM_000137.2(FAH): c.520C> T (p.Arg174Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781496816 GRCh38 Chromosome 15, 80168116: 80168116
35 FAH NM_000137.2(FAH): c.607-1G> A single nucleotide variant Likely pathogenic rs771712041 GRCh37 Chromosome 15, 80464490: 80464490
36 FAH NM_000137.2(FAH): c.607-1G> A single nucleotide variant Likely pathogenic rs771712041 GRCh38 Chromosome 15, 80172148: 80172148
37 FAH NM_000137.2(FAH): c.1190delA (p.Gln397Argfs) deletion Likely pathogenic rs786204551 GRCh37 Chromosome 15, 80478481: 80478481
38 FAH NM_000137.2(FAH): c.1190delA (p.Gln397Argfs) deletion Likely pathogenic rs786204551 GRCh38 Chromosome 15, 80186139: 80186139
39 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh37 Chromosome 15, 80473505: 80473505
40 FAH NM_000137.2(FAH): c.1180+4A> G single nucleotide variant Benign/Likely benign rs60585303 GRCh38 Chromosome 15, 80181163: 80181163
41 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh37 Chromosome 15, 80469886: 80469886
42 FAH NM_000137.2(FAH): c.921A> G (p.Gly307=) single nucleotide variant Benign/Likely benign rs76338717 GRCh38 Chromosome 15, 80177544: 80177544
43 FAH NM_000137.2(FAH): c.963C> A (p.Tyr321Ter) single nucleotide variant Pathogenic rs886044640 GRCh37 Chromosome 15, 80472468: 80472468
44 FAH NM_000137.2(FAH): c.963C> A (p.Tyr321Ter) single nucleotide variant Pathogenic rs886044640 GRCh38 Chromosome 15, 80180126: 80180126
45 FAH NM_000137.2(FAH): c.1259G> A (p.Ter420=) single nucleotide variant Benign/Likely benign rs61747586 GRCh37 Chromosome 15, 80478550: 80478550
46 FAH NM_000137.2(FAH): c.1259G> A (p.Ter420=) single nucleotide variant Benign/Likely benign rs61747586 GRCh38 Chromosome 15, 80186208: 80186208
47 FAH NM_000137.2(FAH): c.139A> G (p.Lys47Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34749737 GRCh38 Chromosome 15, 80158117: 80158117
48 FAH NM_000137.2(FAH): c.139A> G (p.Lys47Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34749737 GRCh37 Chromosome 15, 80450459: 80450459
49 FAH NM_000137.2(FAH): c.855G> A (p.Pro285=) single nucleotide variant Benign/Likely benign rs73481171 GRCh37 Chromosome 15, 80467375: 80467375
50 FAH NM_000137.2(FAH): c.855G> A (p.Pro285=) single nucleotide variant Benign/Likely benign rs73481171 GRCh38 Chromosome 15, 80175033: 80175033

Expression for Tyrosinemia, Type I

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

Pathways for Tyrosinemia, Type I

GO Terms for Tyrosinemia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 ALAD FAH GSTZ1
2 L-phenylalanine catabolic process GO:0006559 9.33 FAH GSTZ1 HPD
3 aromatic amino acid family metabolic process GO:0009072 9.13 FAH GSTZ1 HPD
4 tyrosine catabolic process GO:0006572 8.8 FAH GSTZ1 HPD

Sources for Tyrosinemia, Type I

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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