DiseaseID 4051
半乳糖血症
disease
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs
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Disease: 1Symptom: 11Target: 12Links: 23
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4051
- Core Entity Id
- 60339
- Source Entity Count
- 1
- Preferred Name
- Galactosemias
- Name Cn
- 半乳糖血症
- Name Pinyin
- Ban Ru Tang Xue Zheng
- Name En
- Galactosemias
- 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/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 disease
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.|MSH2017_2016_08_12:A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)|CSP2006:group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Galactosemias
Role
preferred
Name
Classical Galactosemia
Role
preferred
Name
Deficiency of Galactokinase
Role
preferred
Name
Hypergalactosemia
Role
preferred
Name
UDPglucose 4-epimerase deficiency disease
Role
preferred
Name
Classic Galactosemia
Role
alias
Name
Deficiencies, Galactokinase
Role
alias
Name
Deficiency Disease, Udpglucose 4-Epimerase
Role
alias
Name
Galactokinase Deficiency
Role
alias
Name
Galactose Epimerase Deficiency
Role
alias
Name
Galactose Intolerance
Role
alias
Name
Galactose-1-Phosphate Uridyltransferase Deficiency
Role
alias
Name
Galactosemia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004919HP:0012024
Herb
HBDIS001121HBDIS006199HBDIS006201HBDIS011177HBDIS024266
Me Sh
D005693
Omim
230200230350230400
Umls
C0016952
Icd10
E74.21
Sym Map
SMDE08890
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0016952C0268151C0268155C0751161C4023071
Umls Sty
T033T047
Hpo Class
HP:0001939
Me Sh Class
C10C16C18
Tcmbank Disease
13095156883137940476963913
Itcmdb Generated
ITX-DISEASE-2FC53BCD1EF3ITX-DISEASE-A9200EE322AB
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or SyndromeFinding
Disease Definition
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.|MSH2017_2016_08_12:A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)|CSP2006:group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
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 SyndromeFinding