DiseaseID 25761
脑腱黄瘤病
Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xantho
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Disease: 1Herb: 4Symptom: 12Target: 20Links: 40
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25761
- Core Entity Id
- 118329
- Source Entity Count
- 1
- Preferred Name
- Cerebrotendinous Xanthomatosis
- Name Cn
- 脑腱黄瘤病
- Name Pinyin
- Nao Jian Huang Liu Bing
- Name En
- Cerebrotendinous Xanthomatosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xantho
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cerebrotendinous Xanthomatosis
Role
preferred
Name
Lysosomal Acid Lipase Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0043208C0238052
Icd10
E75.5
Med Dra
10053687
Sym Map
SMDE00236SMDE03488
Orphanet
75233909
Etcm Disease
Cerebrotendinous XanthomatosisLysosomal Acid Lipase Deficiency
Itcmdb Generated
ITX-DISEASE-09F3A591CB6AITX-DISEASE-C4BF678F8BFF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Cerebrotendinous Xanthomatosis Details pageDisease Lysosomal Acid Lipase Deficiency Details page
Basic Information
Disease Name
Cerebrotendinous Xanthomatosis
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Lysosomal Acid Lipase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Liver diseases
Disease Definition
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthoNCI2016_02D:A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.|MSH2017_2016_08_12:The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.|CSP2006:severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.