DiseaseID 7610
酵母氨酸尿症
disease
NCI2016_02D:An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.|MSH201
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Disease: 1Symptom: 6Target: 17Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7610
- Core Entity Id
- 64433
- Source Entity Count
- 1
- Preferred Name
- Saccharopinuria
- Name Cn
- 酵母氨酸尿症
- Name Pinyin
- Jiao Mu An Suan Niao Zheng
- Name En
- Saccharopinuria
- 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 metabolism
- Hpo Class
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.|MSH2017_2016_08_12:A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)|HPO2016_07_04:An increased concentration of lysine in the blood. [HPO:gcarletti, pmid:4696900]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Saccharopinuria
Role
preferred
Name
Hyperlysinemia, Type I
Role
preferred
Name
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Role
preferred
Name
Glutaric Aciduria
Role
preferred
Name
Glutaric Aciduria, Type 1
Role
preferred
Name
Hyperlysinemia, Periodic
Role
preferred
Name
Hyperlysinemias
Role
preferred
Name
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Role
preferred
Name
ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY
Role
alias
Name
Elevated Blood Lysine
Role
alias
Name
Ga I
Role
alias
Name
Glutarate Aciduria
Role
alias
Name
Glutaric Acidemia I
Role
alias
Name
Glutaric Acidemia Type 1
Role
alias
Name
Glutaricaciduria
Role
alias
Name
HYPERLYSINEMIA, TYPE II
Role
alias
Name
Hyperlysinemia
Role
alias
Name
Hyperlysinuria With Hyperammonemia
Role
alias
Name
Increased Glutarate Level In Urine
Role
alias
Name
L-LYSINE:NAD-OXIDO-REDUCTASE DEFICIENCY
Role
alias
Name
LYSINE INTOLERANCE
Role
alias
Name
LYSINE:ALPHA-KETOGLUTARATE REDUCTASE DEFICIENCY
Role
alias
Name
SACCHAROPINE DEHYDROGENASE DEFICIENCY
Role
alias
Name
Saccharopine Dehydrogenase Deficiency Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002161HP:0003150
Herb
HBDIS006352HBDIS006353HBDIS006354HBDIS006369HBDIS006370HBDIS010021HBDIS012450HBDIS014449
Me Sh
D020167
Omim
231670238700238750268700
Umls
C0268553C0268556C0543533
Sym Map
SMDE01516SMDE02755SMDE09628
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268553C0268555C0268556C0268594C0268595C0543533C0936256C1527317
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C10C16C18
Etcm Disease
Hyperlysinemia, Type I
Tcmbank Disease
10464153511600178682155922753082731373
Itcmdb Generated
ITX-DISEASE-40677F9B37CD
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Hyperlysinemia, Type I Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyperlysinemia, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.|MSH2017_2016_08_12:A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)|HPO2016_07_04:An increased concentration of lysine in the blood. [HPO:gcarletti, pmid:4696900]
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasephenotype
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