Aliases & Classifications for Tyrosinosis

MalaCards integrated aliases for Tyrosinosis:

Name: Tyrosinosis 58 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tyrosinosis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 276800
MedGen 43 C0268484
SNOMED-CT via HPO 70 258211005 56595005
UMLS 74 C0268484

Summaries for Tyrosinosis

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

Wikipedia : 77 Type 1 tyrosinemia, also known as hepatorenal tyrosinemia or tyrosinosis, is the most severe form of... more...

Description from OMIM: 276800

Related Diseases for Tyrosinosis

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

# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 11.4
2 tyrosinemia, type i 11.1
3 alkaptonuria 10.0
4 phenylketonuria 10.0
5 hepatitis 10.0
6 keratopathy 10.0
7 cystinosis 10.0
8 homocystinuria 10.0
9 tyrosinemia 10.0

Graphical network of the top 20 diseases related to Tyrosinosis:



Diseases related to Tyrosinosis

Symptoms & Phenotypes for Tyrosinosis

Human phenotypes related to Tyrosinosis:

33
# Description HPO Frequency HPO Source Accession
1 hypertyrosinemia 33 HP:0003231

Symptoms via clinical synopsis from OMIM:

58
Lab:
tyrosinemia
tyrosinosis
? liver tyrosine transaminase deficiency (see 276600)

Clinical features from OMIM:

276800

Drugs & Therapeutics for Tyrosinosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 Recruiting NCT03284658

Search NIH Clinical Center for Tyrosinosis

Genetic Tests for Tyrosinosis

Anatomical Context for Tyrosinosis

MalaCards organs/tissues related to Tyrosinosis:

42
Skin, Brain

Publications for Tyrosinosis

Articles related to Tyrosinosis:

(show all 45)
# Title Authors Year
1
[Oculocutaneous type II tyrosinosis]. ( 8363306 )
1993
2
Growth plate: roentgenologic findings in a case of tyrosinosis. ( 2928000 )
1989
3
A neuropathological investigation of a case of tyrosinosis. ( 7386202 )
1980
4
Parahydroxyphenylpyruvicacidemia in tyrosinosis. ( 36347 )
1978
5
Oculocutaneous tyrosinosis. Report of two cases in the same family. ( 33934 )
1977
6
Tyrosinosis (tyrosinaemia). ( 239906 )
1975
7
Bilateral keratopathy and tyrosinosis. ( 242185 )
1975
8
Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis". ( 4370029 )
1974
9
Biochemical studies in a patient with "tyrosinosis". ( 4531904 )
1974
10
Skin lesions in tyrosinosis: response to dietary treatment. ( 4712215 )
1973
11
Screening for tyrosinosis. ( 4727975 )
1973
12
Tyrosinosis: a new variant. ( 4687372 )
1973
13
Tyrosinosis. ( 4791772 )
1973
14
Corneal erosions in tyrosinosis. ( 4148055 )
1973
15
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography. ( 5022110 )
1972
16
Temporary tyrosinosis. ( 5018643 )
1972
17
Unusual radiological changes in tyrosinosis. ( 4113644 )
1972
18
Tyrosinosis: a patient without liver or renal disease. ( 5094340 )
1971
19
Tyrosinosis: report of a case demonstrating in vivo delay in tyrosine breakdown and excess renal loss of insulin. ( 5138230 )
1971
20
Neonatal hepatitis in premature infants simulating hereditary tyrosinosis. ( 5090663 )
1971
21
Tyrosinosis: biochemical studies of an unusual case. ( 5163514 )
1971
22
Dietary treatment of tyrosinosis. ( 5436184 )
1970
23
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis. ( 5783416 )
1969
24
Fructosaemia-"acute-tyrosinosis". ( 4180556 )
1969
25
Recovery after dietary treatment of an infant with features of tyrosinosis. ( 5779435 )
1969
26
Tyrosinosis. I. Clinical, radiological and biochemical aspects. ( 5795306 )
1969
27
Significance of hypermethionaemia in acute tyrosinosis. ( 4172182 )
1968
28
Significance of hypermethionaemia in acute tyrosinosis. ( 4172183 )
1968
29
Tyrosinosis. ( 5639957 )
1968
30
Long-term dietary treatment of tyrosinosis. ( 5646362 )
1968
31
Diagnosis and treatment of tyrosinosis. ( 5696464 )
1968
32
An exceptional case of tyrosinosis. ( 5729527 )
1968
33
Dietary treatment in tyrosinemia (tyrosinosis). With a note on the possible recognition of the carrier state. ( 6015903 )
1967
34
A case of tyrosinosis. ( 5582318 )
1967
35
Radiological case of the month. Tyrosinosis. ( 6015899 )
1967
36
Dietary treatment of tyrosinosis. ( 6015904 )
1967
37
Tyrosinosis. ( 6015905 )
1967
38
Tyrosinosis (inborn hepato-renal dysfunction). ( 5921563 )
1966
39
Tyrosinosis. A study of 6 cases. ( 5940613 )
1966
40
Hepato-tubular syndrome with tyrosinuria-tyrosyluria. Relationships with tyrosinosis. ( 6012742 )
1966
41
STUDIES ON TYROSINOSIS: 2, ACTIVITY OF THE TRANSAMINASE, PARAHYDROXY-PHENYL-PYRUVATE OXIDASE, AND HOMOGENTISIC-ACID OXIDASE. ( 14260629 )
1965
42
BRAIN SEROTONIN IN EXPERIMENTAL TYROSINOSIS. ( 14167837 )
1964
43
STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET. ( 14190487 )
1964
44
TYROSINOSIS. ( 14085846 )
1963
45
A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine. ( 16744947 )
1932

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

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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