DiseaseID 5521
Alagille综合征
disease
NCI2016_02D:An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elonga
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Disease: 1Symptom: 7Target: 21Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5521
- Core Entity Id
- 62036
- Source Entity Count
- 1
- Preferred Name
- Alagille Syndrome
- Name Cn
- Alagille综合征
- Name Pinyin
- Alagille Zong He Zheng
- Name En
- Alagille Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the digestive system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of the digestive system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.|MSH2017_2016_08_12:A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).|JABL99:Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph).|CSP2006:autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Alagille Syndrome
Role
preferred
Name
Alagille Syndrome 1
Role
preferred
Name
Alagille Syndrome 2
Role
preferred
Name
Congenital Absence of Liver
Role
preferred
Name
Hepatic Ductular Hypoplasia
Role
preferred
Name
AHD
Role
alias
Name
ALAGILLE-WATSON SYNDROME
Role
alias
Name
ALGS
Role
alias
Name
ALGS1
Role
alias
Name
ALGS2
Role
alias
Name
ARTERIOHEPATIC DYSPLASIA
Role
alias
Name
AWS
Role
alias
Name
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
Role
alias
Name
Ductular Hypoplasia, Hepatic
Role
alias
Name
Failed Liver Development
Role
alias
Name
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
Role
alias
Name
Hepatic Agenesis
Role
alias
Name
Liver Agenesis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100839
Herb
HBDIS003269HBDIS005961HBDIS017470HBDIS018572HBDIS020144
Me Sh
D016738
Omim
118450610205
Umls
C0085280C1857761C1956125
Icd10
Q44.7
Sym Map
SMDE03214SMDE03872SMDE05666
Do Class
DOID:7
Dis Ge Net
C0085280C0266258C1857761C1956125C2930797
Umls Sty
T019T047
Hpo Class
HP:0025031
Me Sh Class
C06C14C16
Etcm Disease
Alagille Syndrome 1Alagille Syndrome 2
Tcmbank Disease
10112113771438524129491
Itcmdb Generated
ITX-DISEASE-0326FA3C23BBITX-DISEASE-40FF3C13C195ITX-DISEASE-54A826ECC7B7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Alagille Syndrome 1 Details pageDisease Alagille Syndrome 2 Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the digestive system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the digestive system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Alagille Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases
Disease Name
Alagille Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases
Disease Definition
NCI2016_02D:An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.|MSH2017_2016_08_12:A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).|JABL99:Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph).|CSP2006:autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
Me Sh Disease Class
Cardiovascular Diseases; Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome