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TYRSN1
MCID: TYR012
MIFTS: 56
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Tyrosinemia, Type I (TYRSN1)
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
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MalaCards integrated aliases for Tyrosinemia, Type I:
Characteristics:Orphanet epidemiological data:60
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:58
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:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases Anatomical: Neuronal diseases Liver diseases Nephrological diseases Blood diseases Eye diseases Gastrointestinal diseases Skin diseases Endocrine diseases Mental diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
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NIH Rare Diseases
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54
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 liver disease and tyrosinemia. An important gene associated with Tyrosinemia, Type I is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are 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 Liver, liver and kidney, and related phenotypes are generalized aminoaciduria and splenomegaly 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. OMIM : 58 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 : 76 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. Wikipedia : 77 Type 1 tyrosinemia, also known as hepatorenal tyrosinemia or tyrosinosis, is the most severe form of... more...
GeneReviews:
NBK1515
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Human phenotypes related to Tyrosinemia, Type I:60 33 (show all 30)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:276700GenomeRNAi Phenotypes related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Tyrosinemia, Type I:47
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Drugs for Tyrosinemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 11)
Cell-based therapeutics:
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:
Embryonic/Adult Cultured Cells Related to Tyrosinemia, Type I:
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MalaCards organs/tissues related to Tyrosinemia, Type I:42
Liver,
Kidney,
Bone,
Pancreatic Islet,
Testes,
Colon,
Cortex
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Tyrosinemia, Type I:
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Articles related to Tyrosinemia, Type I:(show top 50) (show all 122)
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Genes related to Tyrosinemia, Type I (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia, Type I:76 (show all 20)
ClinVar genetic disease variations for Tyrosinemia, Type I:6 (show top 50) (show all 154)
Cosmic variations for Tyrosinemia, Type I:9 (show top 50) (show all 3359)
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Search
GEO
for disease gene expression data for Tyrosinemia, Type I.
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Biological processes related to Tyrosinemia, Type I according to GeneCards Suite gene sharing:
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