Aliases & Classifications for Tyrosinosis

MalaCards integrated aliases for Tyrosinosis:

Name: Tyrosinosis 57 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
tyrosinosis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 276800
MedGen 42 C0268484
SNOMED-CT via HPO 69 258211005 56595005
UMLS 73 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 liver and skin, and related phenotype is hypertyrosinemia.

Wikipedia : 76 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 11.2
2 tyrosinemia, type i 11.0
3 alkaptonuria 9.9
4 phenylketonuria 9.9
5 hepatitis 9.9
6 keratopathy 9.9
7 tyrosinemia 9.9

Graphical network of the top 20 diseases related to Tyrosinosis:



Diseases related to Tyrosinosis

Symptoms & Phenotypes for Tyrosinosis

Symptoms via clinical synopsis from OMIM:

57
Lab:
tyrosinemia
tyrosinosis
? liver tyrosine transaminase deficiency (see 276600)


Clinical features from OMIM:

276800

Human phenotypes related to Tyrosinosis:

32
# Description HPO Frequency HPO Source Accession
1 hypertyrosinemia 32 HP:0003231

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:

41
Liver, Skin

Publications for Tyrosinosis

Articles related to Tyrosinosis:

(show all 20)
# 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
Skin lesions in tyrosinosis: response to dietary treatment. ( 4712215 )
1973
9
Screening for tyrosinosis. ( 4727975 )
1973
10
Tyrosinosis: a new variant. ( 4687372 )
1973
11
Tyrosinosis. ( 4791772 )
1973
12
Corneal erosions in tyrosinosis. ( 4148055 )
1973
13
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography. ( 5022110 )
1972
14
Temporary tyrosinosis. ( 5018643 )
1972
15
Unusual radiological changes in tyrosinosis. ( 4113644 )
1972
16
Tyrosinosis: a patient without liver or renal disease. ( 5094340 )
1971
17
Tyrosinosis: report of a case demonstrating in vivo delay in tyrosine breakdown and excess renal loss of insulin. ( 5138230 )
1971
18
Neonatal hepatitis in premature infants simulating hereditary tyrosinosis. ( 5090663 )
1971
19
Tyrosinosis: biochemical studies of an unusual case. ( 5163514 )
1971
20
Dietary treatment in tyrosinemia (tyrosinosis). With a note on the possible recognition of the carrier state. ( 6015903 )
1967

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 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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