TYRSN2
MCID: TYR013
MIFTS: 47

Tyrosinemia, Type Ii (TYRSN2)

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, Type Ii

MalaCards integrated aliases for Tyrosinemia, Type Ii:

Name: Tyrosinemia, Type Ii 58 13
Tyrosinemia Type Ii 12 54 60 76 56 15
Oculocutaneous Tyrosinemia 12 77 54 60 76
Tyrosinemia Type 2 54 60 30 6 41
Richner-Hanhart Syndrome 58 12 60 76
Keratosis Palmoplantaris with Corneal Dystrophy 58 54 76
Tyrosine Aminotransferase Deficiency 58 54 76
Tyrosine Transaminase Deficiency 58 54 76
Tat Deficiency 58 54 76
Tyrosinosis Oculocutaneous Type 54 76
Oregon Type Tyrosinemia 58 54
Tyrsn2 58 76
Tyrosinemia Due to Tyrosine Aminotransferase Deficiency 60
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome 60
Tyrosine Transaminase Deficiency Disease 74
Tyrosinemia Due to Tat Deficiency 60
Tyrosinosis, Oculocutaneous Type 58
Richner Hanhart Syndrome 54
Tyrosinemia Oregon Type 76
Tyrosinemia 2 76

Characteristics:

Orphanet epidemiological data:

60
tyrosinemia type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tyrosinemia, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tyrosinemia, Type Ii

NIH Rare Diseases : 54 Tyrosinemia type 2 is a genetic disorder in which individuals have elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition can affect the eyes, skin, and intellectual development. Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis). About 50 percent of individuals with this condition have an intellectual disability. Tyrosinemia type 2 is caused by a deficiency of the enzyme tyrosine aminotransferase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the TAT gene. This condition is inherited in an autosomal recessive manner. There is no cure for this condition; however, some of the symptoms may be managed with a diet that limits certain amino acids, such as phenylalanine and tyrosine. A medication called NTBC may also be used to help control the amount of tyrosine in the body.

MalaCards based summary : Tyrosinemia, Type Ii, also known as tyrosinemia type ii, is related to tyrosinemia and corneal dystrophy. An important gene associated with Tyrosinemia, Type Ii is TAT (Tyrosine Aminotransferase), and among its related pathways/superpathways are Carbon 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 skin, eye and brain, and related phenotypes are intellectual disability and corneal opacity

Disease Ontology : 12 A tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.

OMIM : 58 Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992). (276600)

UniProtKB/Swiss-Prot : 76 Tyrosinemia 2: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation.

Wikipedia : 77 Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when... more...

Related Diseases for Tyrosinemia, Type Ii

Diseases in the Tyrosinemia family:

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

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

# Related Disease Score Top Affiliating Genes
1 tyrosinemia 31.0 FAH TAT
2 corneal dystrophy 10.4
3 hanhart syndrome 10.4
4 phenylketonuria 10.0
5 tyrosinemia, type iii 9.8 FAH TAT
6 nail disorder, nonsyndromic congenital, 1 9.6 MBTPS2 TP63
7 alopecia 9.4 MBTPS2 TP63

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



Diseases related to Tyrosinemia, Type Ii

Symptoms & Phenotypes for Tyrosinemia, Type Ii

Human phenotypes related to Tyrosinemia, Type Ii:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
3 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
6 abnormality of amino acid metabolism 60 33 frequent (33%) Frequent (79-30%) HP:0004337
7 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
8 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
9 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
10 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
11 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
12 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
13 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
14 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597
15 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
16 behavioral abnormality 60 Frequent (79-30%)
17 hyperkeratosis 60 Very frequent (99-80%)
18 growth delay 33 HP:0001510
19 abnormality of the skin 33 HP:0000951
20 4-hydroxyphenylpyruvic aciduria 33 HP:0003161
21 herpetiform corneal ulceration 33 HP:0007812
22 hypertyrosinemia 33 HP:0003231

Symptoms via clinical synopsis from OMIM:

58
Growth:
growth retardation

Eyes:
herpetiform corneal ulcers

Lab:
tyrosinemia
tyrosine transaminase deficiency
normal p-hydroxyphenylpyruvic acid oxidase
normal phenylalanine level
hydroxyphenylpyruvic aciduria
more
Neuro:
mental retardation

Skin:
painful punctate keratoses of digits, palms, and soles

Clinical features from OMIM:

276600

Drugs & Therapeutics for Tyrosinemia, Type Ii

Drugs for Tyrosinemia, Type Ii (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, Type Ii

Genetic Tests for Tyrosinemia, Type Ii

Genetic tests related to Tyrosinemia, Type Ii:

# Genetic test Affiliating Genes
1 Tyrosinemia Type 2 30 TAT

Anatomical Context for Tyrosinemia, Type Ii

MalaCards organs/tissues related to Tyrosinemia, Type Ii:

42
Skin, Eye, Brain

The Foundational Model of Anatomy Ontology organs/tissues related to Tyrosinemia, Type Ii:

20
The Liver

Publications for Tyrosinemia, Type Ii

Articles related to Tyrosinemia, Type Ii:

(show all 33)
# Title Authors Year
1
Richner-Hanhart syndrome (tyrosinemia type II). ( 29360903 )
2017
2
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. ( 28255985 )
2017
3
Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II. ( 28121442 )
2017
4
Palmoplantar hyperkeratosis with a linear disposition along dermatoglyphics: a clue for an early diagnosis of tyrosinemia type II. ( 28166616 )
2017
5
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
6
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
7
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. ( 27285949 )
2016
8
In vivo confocal microscopic features of corneal pseudodendritic lesions in tyrosinemia type II. ( 25119963 )
2014
9
Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins. ( 22588828 )
2012
10
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion. ( 22389994 )
2011
11
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. ( 21145993 )
2011
12
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. ( 16574453 )
2006
13
Corneal lesion as the initial manifestation of tyrosinemia type II. ( 16863017 )
2006
14
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. ( 16640556 )
2006
15
[Tyrosinemia type II. Case report]. ( 16050420 )
2005
16
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. ( 15817712 )
2005
17
Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome). ( 16270769 )
2005
18
Tyrosinemia type II: nine cases of ocular signs and symptoms. ( 11589874 )
2001
19
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. ( 17344737 )
1998
20
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. ( 9544843 )
1998
21
Tyrosinemia type II: a challenge for ophthalmologists and dermatologists. ( 9144695 )
1997
22
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. ( 7844676 )
1995
23
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. ( 7648039 )
1995
24
Painful plantar callouses and mental retardation. Tyrosinemia type II. ( 7909424 )
1994
25
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. ( 1357662 )
1992
26
Early diagnosis of tyrosinemia type II. ( 2712144 )
1989
27
The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II. ( 2456982 )
1988
28
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. ( 2964425 )
1988
29
Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II). ( 3054681 )
1988
30
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II. ( 2891604 )
1987
31
New forms of hereditary tyrosinemia type II in mink: hepatic tyrosine aminotransferase defect. ( 2876972 )
1986
32
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. ( 2947825 )
1986
33
Richner-Hanhart syndrome and tyrosinemia type II. ( 6446465 )
1980

Variations for Tyrosinemia, Type Ii

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

76
# Symbol AA change Variation ID SNP ID
1 TAT p.Gly362Val VAR_000560 rs587776511

ClinVar genetic disease variations for Tyrosinemia, Type Ii:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAT NM_000353.2(TAT): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118203914 GRCh37 Chromosome 16, 71610150: 71610150
2 TAT NM_000353.2(TAT): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118203914 GRCh38 Chromosome 16, 71576247: 71576247
3 TAT NM_000353.2(TAT): c.668C> G (p.Ser223Ter) single nucleotide variant Pathogenic rs118203915 GRCh37 Chromosome 16, 71606127: 71606127
4 TAT NM_000353.2(TAT): c.668C> G (p.Ser223Ter) single nucleotide variant Pathogenic rs118203915 GRCh38 Chromosome 16, 71572224: 71572224
5 TAT NM_000353.2(TAT): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs118203916 GRCh37 Chromosome 16, 71602163: 71602163
6 TAT NM_000353.2(TAT): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs118203916 GRCh38 Chromosome 16, 71568260: 71568260
7 TAT NM_000353.2(TAT): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs587776511 GRCh38 Chromosome 16, 71569894: 71569894
8 TAT NM_000353.2(TAT): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs587776511 GRCh37 Chromosome 16, 71603797: 71603797
9 TAT NM_000353.2(TAT): c.236-5A> G single nucleotide variant Pathogenic rs587776512 GRCh38 Chromosome 16, 71576031: 71576031
10 TAT NM_000353.2(TAT): c.236-5A> G single nucleotide variant Pathogenic rs587776512 GRCh37 Chromosome 16, 71609934: 71609934
11 TAT NM_000353.2(TAT): c.1068G> A (p.Ala356=) single nucleotide variant Likely benign rs202010343 GRCh38 Chromosome 16, 71569911: 71569911
12 TAT NM_000353.2(TAT): c.1068G> A (p.Ala356=) single nucleotide variant Likely benign rs202010343 GRCh37 Chromosome 16, 71603814: 71603814
13 TAT NM_000353.2(TAT): c.1363T> C (p.Ter455Gln) single nucleotide variant Uncertain significance rs1018491678 GRCh37 Chromosome 16, 71602049: 71602049
14 TAT NM_000353.2(TAT): c.1363T> C (p.Ter455Gln) single nucleotide variant Uncertain significance rs1018491678 GRCh38 Chromosome 16, 71568146: 71568146
15 TAT NM_000353.2(TAT): c.1298G> A (p.Arg433Gln) single nucleotide variant Uncertain significance rs775488556 GRCh37 Chromosome 16, 71602114: 71602114
16 TAT NM_000353.2(TAT): c.1298G> A (p.Arg433Gln) single nucleotide variant Uncertain significance rs775488556 GRCh38 Chromosome 16, 71568211: 71568211
17 TAT NM_000353.2(TAT): c.226dup (p.Leu76Profs) duplication Likely pathogenic rs746077579 GRCh37 Chromosome 16, 71610092: 71610092
18 TAT NM_000353.2(TAT): c.226dup (p.Leu76Profs) duplication Likely pathogenic rs746077579 GRCh38 Chromosome 16, 71576190: 71576190
19 TAT NM_000353.2(TAT): c.1297C> T (p.Arg433Trp) single nucleotide variant Likely pathogenic rs761817519 GRCh37 Chromosome 16, 71602115: 71602115
20 TAT NM_000353.2(TAT): c.1297C> T (p.Arg433Trp) single nucleotide variant Likely pathogenic rs761817519 GRCh38 Chromosome 16, 71568212: 71568212
21 TAT NM_000353.2(TAT): c.1224G> A (p.Thr408=) single nucleotide variant Uncertain significance rs756743947 GRCh37 Chromosome 16, 71602614: 71602614
22 TAT NM_000353.2(TAT): c.1224G> A (p.Thr408=) single nucleotide variant Uncertain significance rs756743947 GRCh38 Chromosome 16, 71568711: 71568711
23 TAT NM_000353.2(TAT): c.1047delT (p.Asn349Lysfs) deletion Likely pathogenic rs1555537673 GRCh37 Chromosome 16, 71603834: 71603835
24 TAT NM_000353.2(TAT): c.1047delT (p.Asn349Lysfs) deletion Likely pathogenic rs1555537673 GRCh38 Chromosome 16, 71569932: 71569932
25 TAT NM_000353.2(TAT): c.355C> T (p.Arg119Trp) single nucleotide variant Uncertain significance rs758306831 GRCh37 Chromosome 16, 71607495: 71607495
26 TAT NM_000353.2(TAT): c.355C> T (p.Arg119Trp) single nucleotide variant Uncertain significance rs758306831 GRCh38 Chromosome 16, 71573592: 71573592
27 TAT NM_000353.2(TAT): c.177dup (p.Val60Cysfs) duplication Likely pathogenic rs1555538156 GRCh37 Chromosome 16, 71610141: 71610141
28 TAT NM_000353.2(TAT): c.177dup (p.Val60Cysfs) duplication Likely pathogenic rs1555538156 GRCh38 Chromosome 16, 71576239: 71576239
29 TAT NM_000353.2(TAT): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1426882225 GRCh37 Chromosome 16, 71610318: 71610318
30 TAT NM_000353.2(TAT): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1426882225 GRCh38 Chromosome 16, 71576415: 71576415
31 TAT NM_000353.2(TAT): c.-12-1G> A single nucleotide variant Uncertain significance rs777389158 GRCh37 Chromosome 16, 71610331: 71610331
32 TAT NM_000353.2(TAT): c.-12-1G> A single nucleotide variant Uncertain significance rs777389158 GRCh38 Chromosome 16, 71576428: 71576428
33 TAT NM_000353.2(TAT): c.1223C> T (p.Thr408Met) single nucleotide variant Uncertain significance rs200815080 GRCh37 Chromosome 16, 71602615: 71602615
34 TAT NM_000353.2(TAT): c.1223C> T (p.Thr408Met) single nucleotide variant Uncertain significance rs200815080 GRCh38 Chromosome 16, 71568712: 71568712
35 TAT NM_000353.2(TAT): c.1041+2T> C single nucleotide variant Likely pathogenic rs113758103 GRCh37 Chromosome 16, 71604170: 71604170
36 TAT NM_000353.2(TAT): c.1041+2T> C single nucleotide variant Likely pathogenic rs113758103 GRCh38 Chromosome 16, 71570267: 71570267
37 TAT NM_000353.2(TAT): c.906_912+12del19 deletion Likely pathogenic rs1555537741 GRCh38 Chromosome 16, 71570667: 71570685
38 TAT NM_000353.2(TAT): c.906_912+12del19 deletion Likely pathogenic rs1555537741 GRCh37 Chromosome 16, 71604569: 71604588
39 TAT NM_000353.2(TAT): c.707-1G> A single nucleotide variant Likely pathogenic rs1555537814 GRCh37 Chromosome 16, 71605562: 71605562
40 TAT NM_000353.2(TAT): c.707-1G> A single nucleotide variant Likely pathogenic rs1555537814 GRCh38 Chromosome 16, 71571659: 71571659
41 TAT NM_000353.2(TAT): c.1250G> A (p.Arg417Gln) single nucleotide variant Uncertain significance rs757879229 GRCh37 Chromosome 16, 71602162: 71602162
42 TAT NM_000353.2(TAT): c.1250G> A (p.Arg417Gln) single nucleotide variant Uncertain significance rs757879229 GRCh38 Chromosome 16, 71568259: 71568259
43 TAT NM_000353.2(TAT): c.1125+1G> T single nucleotide variant Likely pathogenic rs1555537662 GRCh37 Chromosome 16, 71603756: 71603756
44 TAT NM_000353.2(TAT): c.1125+1G> T single nucleotide variant Likely pathogenic rs1555537662 GRCh38 Chromosome 16, 71569853: 71569853
45 TAT NM_000353.2(TAT): c.568-2A> G single nucleotide variant Likely pathogenic rs1555537871 GRCh37 Chromosome 16, 71606229: 71606229
46 TAT NM_000353.2(TAT): c.568-2A> G single nucleotide variant Likely pathogenic rs1555537871 GRCh38 Chromosome 16, 71572326: 71572326
47 TAT NM_000353.2(TAT): c.340+2T> C single nucleotide variant Likely pathogenic rs1555538138 GRCh37 Chromosome 16, 71609823: 71609823
48 TAT NM_000353.2(TAT): c.340+2T> C single nucleotide variant Likely pathogenic rs1555538138 GRCh38 Chromosome 16, 71575920: 71575920
49 TAT NM_000353.2(TAT): c.235+1G> A single nucleotide variant Likely pathogenic rs748924248 GRCh37 Chromosome 16, 71610083: 71610083
50 TAT NM_000353.2(TAT): c.235+1G> A single nucleotide variant Likely pathogenic rs748924248 GRCh38 Chromosome 16, 71576180: 71576180

Cosmic variations for Tyrosinemia, Type Ii:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM484 HRAS skin,hand,other,keratosis c.35G>A p.G12D 11:534288-534288 0

Expression for Tyrosinemia, Type Ii

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

Pathways for Tyrosinemia, Type Ii

GO Terms for Tyrosinemia, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 9.26 CPS1 TAT
2 L-phenylalanine catabolic process GO:0006559 9.16 FAH TAT
3 aromatic amino acid family metabolic process GO:0009072 8.96 FAH TAT
4 tyrosine catabolic process GO:0006572 8.62 FAH TAT

Sources for Tyrosinemia, Type Ii

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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