MCID: TYR015
MIFTS: 20

Tyrosinosis

Categories: Nephrological diseases

Aliases & Classifications for Tyrosinosis

MalaCards integrated aliases for Tyrosinosis:

Name: Tyrosinosis 57 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
tyrosinosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 276800
MedGen 41 C0268484
SNOMED-CT via HPO 68 258211005 56595005
UMLS 70 C0268484

Summaries for Tyrosinosis

MalaCards based summary : Tyrosinosis is related to tyrosinemia, type ii and hypoglossia-hypodactylia. An important gene associated with Tyrosinosis is TAT (Tyrosine Aminotransferase). Affiliated tissues include liver and skin, and related phenotype is hypertyrosinemia.

Wikipedia : 73 Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine,... more...

More information from OMIM: 276800

Related Diseases for Tyrosinosis

Diseases related to Tyrosinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 11.2
2 hypoglossia-hypodactylia 10.3
3 tyrosinemia 10.3
4 keratosis 10.2
5 keratitis, hereditary 10.2
6 tyrosinemia, type i 10.2
7 alkaptonuria 10.0
8 keratopathy 10.0
9 fructose-1,6-bisphosphatase deficiency 9.9
10 phenylketonuria 9.9
11 wilson disease 9.9
12 cystinosis 9.9
13 palmoplantar keratosis 9.9
14 lactic acidosis 9.9
15 homocystinuria 9.9
16 aminoaciduria 9.9
17 erythrokeratoderma ''en cocardes'' 9.9
18 disorder of tyrosine metabolism 9.9

Graphical network of the top 20 diseases related to Tyrosinosis:



Diseases related to Tyrosinosis

Symptoms & Phenotypes for Tyrosinosis

Human phenotypes related to Tyrosinosis:

31
# Description HPO Frequency HPO Source Accession
1 hypertyrosinemia 31 HP:0003231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
tyrosinemia
tyrosinosis
? liver tyrosine transaminase deficiency (see 276600)

Clinical features from OMIM®:

276800 (Updated 20-May-2021)

Drugs & Therapeutics for Tyrosinosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT03284658

Search NIH Clinical Center for Tyrosinosis

Genetic Tests for Tyrosinosis

Anatomical Context for Tyrosinosis

MalaCards organs/tissues related to Tyrosinosis:

40
Liver, Skin

Publications for Tyrosinosis

Articles related to Tyrosinosis:

(show top 50) (show all 106)
# Title Authors PMID Year
1
A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine. 57 61
16744947 1932
2
Nitisinone causes acquired tyrosinosis in alkaptonuria. 61
32083330 2020
3
Surpassingly competitive electromagnetic field enhancement at the silica/silver interface for selective intracellular surface enhanced Raman scattering detection. 61
25704061 2015
4
The dual face of endogenous alpha-aminoketones: pro-oxidizing metabolic weapons. 61
16920403 2007
5
DNA alkylation by 4,5-dioxovaleric acid, the final oxidation product of 5-aminolevulinic acid. 61
9511907 1998
6
Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid. 61
9070373 1996
7
The prooxidant effect of 5-aminolevulinic acid in the brain tissue of rats: implications in neuropsychiatric manifestations in porphyrias. 61
8720899 1996
8
Malignant epithelial tumours in children: incidence and aetiology. 61
8515722 1993
9
The periphysis and its effect on the metaphysis. II. Application to rickets and other abnormalities. 61
8438181 1993
10
[Oculocutaneous type II tyrosinosis]. 61
8363306 1993
11
[Tyrosinosis. A difficult diagnosis of late infancy]. 61
2159592 1990
12
Growth plate: roentgenologic findings in a case of tyrosinosis. 61
2928000 1989
13
[Type II oculo-cutaneous tyrosinosis or Richner-Hanhart syndrome--apropos of a case]. 61
2574638 1989
14
[2 cases of type II tyrosinosis (Richner-Hanhart syndrome)]. 61
2907308 1988
15
Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period. 61
2962675 1987
16
Sensitive detection of amino acids in human serum and dried blood disc of 3 mm diameter for diagnosis of inborn errors of metabolism. 61
6480779 1984
17
[Type II oculo-cutaneous tyrosinosis]. 61
6152137 1984
18
The chemical basis and specificity of the nitrosonaphthol reaction. 61
6194918 1983
19
[Tyrosinosis with hepatolenticular degeneration (Wilson's disease)]. 61
6855139 1983
20
The radiological investigation of hepatocellular carcinoma in children. 61
6291177 1982
21
The pancreatic beta cell fraction in children with errors of amino acid metabolism. 61
7038608 1982
22
[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)]. 61
7328420 1981
23
Application of a gas chromatography mass spectrometry computer system for clinical diagnosis. 61
7034801 1981
24
A neuropathological investigation of a case of tyrosinosis. 61
7386202 1980
25
[Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)]. 61
7235483 1980
26
[Oculo-cutaneous tyrosinosis (Richner-Hanhart syndrome). Histo-pathological study of a case]. 61
6112939 1980
27
Tyrosine metabolism in cirrhosis. 61
501206 1979
28
Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. 61
507913 1979
29
A syndrome of hereditary tyrosinemia in mink (Mustela vison Schreb.). 61
487250 1979
30
[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations]. 61
34642 1979
31
[Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)]. 61
485016 1979
32
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. 61
738900 1978
33
Parahydroxyphenylpyruvicacidemia in tyrosinosis. 61
36347 1978
34
Clinical applications of serum carcinoembryonic antigen and alpha-fetoprotein levels in children with solid tumours. 61
78685 1978
35
Response of the lysosomal system of the corneal epithelium to tyrosine-induced cell injury. 61
925342 1977
36
Oculocutaneous tyrosinosis. Report of two cases in the same family. 61
33934 1977
37
[Tyrosinosis. Electron mecroscopy of two cases (author's transl)]. 61
873110 1977
38
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine. 61
837523 1977
39
Hypertyrosinaemia. 61
615479 1977
40
[Hereditary fructose intolerance with early onset]. 61
1015980 1976
41
[Tyrosinosis]. 61
1012221 1976
42
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)]. 61
962381 1976
43
[Tyrosinosis]. 61
1272434 1976
44
Evidence for the possible formation of a toxic tyrosine metabolite by the liver microsomal drug metabolizing system. 61
934357 1976
45
Crystals in corneal epithelial lesions of tyrosine-fed rats. 61
1193809 1975
46
Bilateral keratopathy and tyrosinosis. 61
242185 1975
47
[Letter: Acute tyrosinosis with lactic acidosis]. 61
170880 1975
48
Tyrosinosis (tyrosinaemia). 61
239906 1975
49
Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis". 61
4370029 1974
50
Biochemical studies in a patient with "tyrosinosis". 61
4531904 1974

Variations for Tyrosinosis

Expression for Tyrosinosis

Search GEO for disease gene expression data for Tyrosinosis.

Pathways for Tyrosinosis

GO Terms for Tyrosinosis

Sources for Tyrosinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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