DiseaseID 3748
胱氨酸尿症
disease
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It resu
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Disease: 1Symptom: 2Target: 18Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3748
- Core Entity Id
- 59990
- Source Entity Count
- 1
- Preferred Name
- Cystinuria
- Name Cn
- 胱氨酸尿症
- Name Pinyin
- Guang An Suan Niao Zheng
- Name En
- Cystinuria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- genetic disease; disease of anatomical entity; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.|MSH2017_2016_08_12:An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.|HPO2016_07_04:An increased concentration of cystine in the urine. [HPO:gcarletti]|CSP2006:inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cystinuria
Role
preferred
Name
Cystinuria, Type B
Role
preferred
Name
Isolated Cystinuria
Role
preferred
Name
Cystinuria, Type A
Role
preferred
Name
CSNU
Role
alias
Name
CSNU1, FORMERLY
Role
alias
Name
CSNU3, FORMERLY
Role
alias
Name
CYSTINURIA, TYPE A/B
Role
alias
Name
CYSTINURIA, TYPE I, FORMERLY
Role
alias
Name
CYSTINURIA, TYPE II, FORMERLY
Role
alias
Name
CYSTINURIA, TYPE III, FORMERLY
Role
alias
Name
CYSTINURIA, TYPE NON-I, FORMERLY
Role
alias
Name
High Urine Cystine Levels
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003131
Herb
HBDIS000708HBDIS006395HBDIS017413HBDIS017414
Me Sh
D003555
Omim
220100
Umls
C0010691C0268646C1857388C1857389C1857390
Sym Map
SMDE02714SMDE07712SMDE10098
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0010691C0268646C1857388C1857389
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C12C13C16
Etcm Disease
Cystinuria
Tcmbank Disease
188522699128706300535843
Itcmdb Generated
ITX-DISEASE-70A7CC58B24EITX-DISEASE-982F338DD8C7ITX-DISEASE-C0A2E348B2ACITX-DISEASE-EDDFF3CA6350
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Cystinuria Details page
Do Class Name
disease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cystinuria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Nephrological diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.|MSH2017_2016_08_12:An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.|HPO2016_07_04:An increased concentration of cystine in the urine. [HPO:gcarletti]|CSP2006:inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome