DiseaseID 7592
酪氨酸血症
disease
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine.
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Disease: 1Symptom: 3Target: 10Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7592
- Core Entity Id
- 64413
- Source Entity Count
- 1
- Preferred Name
- Tyrosinemias
- Name Cn
- 酪氨酸血症
- Name Pinyin
- Lao An Suan Xue Zheng
- Name En
- Tyrosinemias
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.|MSH2017_2016_08_12:A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)|CSP2006:group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Tyrosinemias
Role
preferred
Name
Tyrosinemia, Type Iii
Role
preferred
Name
Hypertyrosinemia
Role
preferred
Name
Tyrosine Transaminase Deficiency Disease
Role
preferred
Name
Tyrosinemia, Type I
Role
preferred
Name
4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
Role
alias
Name
4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY
Role
alias
Name
Increased Tyrosine In Blood
Role
alias
Name
Keratosis Palmoplantaris With Corneal Dystrophy
Role
alias
Name
TYRSN3
Role
alias
Name
Tyrosinemia
Role
alias
Name
Tyrosinemia Type I
Role
alias
Name
Tyrosinemia Type Ii
Role
alias
Name
Tyrosinemia Type Iii
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003231
Herb
HBDIS006326HBDIS006328HBDIS006329HBDIS006384HBDIS018526
Me Sh
D020176
Omim
276600276700276710
Umls
C0268483C0268623
Icd10
E70.21
Sym Map
SMDE02282SMDE05149SMDE14071
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0268483C0268487C0268490C0268623C1879362
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C10C16C18
Tcmbank Disease
112171830823697307544961
Itcmdb Generated
ITX-DISEASE-CC5B5AF4292D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
01
Do Class Name
disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis
Link Disease Id
1673.0
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.|MSH2017_2016_08_12:A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)|CSP2006:group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency.NCI2016_02D:Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome