DiseaseID 134
胱氨酸病
disease
NCI2016_02D:An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with sl
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Disease: 1Herb: 10Symptom: 12Target: 23Links: 46
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 134
- Core Entity Id
- 152
- Source Entity Count
- 1
- Preferred Name
- Cystinosis
- Name Cn
- 胱氨酸病
- Name Pinyin
- Guang An Suan Bing
- Name En
- Cystinosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
- Hpo Class
- Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of the genitourinary system
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004|MSH2017_2016_08_12:A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.|CSP2006:lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cystinosis
Role
preferred
Name
De Toni-Debre-Fanconi Syndrome
Role
preferred
Name
Fanconi Renotubular Syndrome 2
Role
preferred
Name
Fanconi Renotubular Syndrome 3
Role
preferred
Name
Fanconi Syndrome
Role
preferred
Name
Fanconi-Bickel Syndrome
Role
preferred
Name
Adult Fanconi Syndrome
Role
preferred
Name
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
Role
preferred
Name
Cystinosis, Benign, Nonnephropathic
Role
preferred
Name
Cystinosis, Infantile Nephropathic
Role
preferred
Name
FANCONI RENOTUBULAR SYNDROME 1
Role
preferred
Name
Juvenile Nephropathic Cystinosis (Disorder)
Role
preferred
Name
Nephropathic Cystinosis
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Role
preferred
Name
'De Toni-Fanconi-Debre' Syndrome
Role
alias
Name
Cystinosis, Adult Nonnephropathic
Role
alias
Name
Cystinosis, Intermediate
Role
alias
Name
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Role
alias
Name
Cystinosis, Nephropathic
Role
alias
Name
Cystinosis, Ocular Nonnephropathic
Role
alias
Name
FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE
Role
alias
Name
FBS
Role
alias
Name
FRTS2
Role
alias
Name
FRTS3
Role
alias
Name
Fanconi Syndrome, Adult
Role
alias
Name
GLYCOGEN STORAGE DISEASE XI
Role
alias
Name
GLYCOGENOSIS, FANCONI TYPE
Role
alias
Name
HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA
Role
alias
Name
HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY
Role
alias
Name
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
Role
alias
Name
Lysosomal Cystine Transport Protein, Defect Of
Role
alias
Name
PSEUDO-PHLORIZIN DIABETES
Role
alias
Name
Renal Fanconi Syndrome
Role
alias
Name
Renal Tubular Fanconi Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001994
Herb
HBDIS001037HBDIS006386HBDIS007922HBDIS013331HBDIS017415HBDIS019814HBDIS020196HBDIS020241HBDIS020647HBDIS021497HBDIS021611HBDIS022407HBDIS026417HBDIS027207
Me Sh
D003554D005198
Omim
219750219800219900227810271510613388615605
Umls
C0015624C1857395C3150652C3495427C3810100
Icd10
E72.04
Sym Map
SMDE00105SMDE01501SMDE04271SMDE07710SMDE07733SMDE08666SMDE11381
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0015624C0268626C0341703C1300260C1857395C2749685C2931013C2931187C3150652C3495427C3537440C3810100C4316899C4551503
Umls Sty
T019T047
Hpo Class
HP:0000119
Me Sh Class
C05C12C13C16C18
Etcm Disease
CystinosisFanconi Renotubular Syndrome 1Fanconi Renotubular Syndrome 2Fanconi Renotubular Syndrome 3Fanconi-Bickel Syndrome
Tcmbank Disease
1006610632204102100421257212762182322193245102485929784421072058137
Itcmdb Generated
ITX-DISEASE-00AFB15F0126ITX-DISEASE-49B0D62100A5ITX-DISEASE-50CF2CA0B1AFITX-DISEASE-773BA6B398D4ITX-DISEASE-7C59EE0AB6E3ITX-DISEASE-C05C8579CAB7ITX-DISEASE-EF9B93B2B4F0
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Cystinosis Details pageDisease Fanconi Renotubular Syndrome 1 Details pageDisease Fanconi Renotubular Syndrome 2 Details pageDisease Fanconi Renotubular Syndrome 3 Details pageDisease Fanconi-Bickel Syndrome Details page
Do Class Name
disease of anatomical entitydisease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the genitourinary system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the genitourinary system
Umls Disease Type
Disease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Cystinosis
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases
Disease Name
Fanconi Renotubular Syndrome 1
Global Category
Genetic diseases
Anatomical Category
Bone diseases;Nephrological diseases
Disease Name
Fanconi Renotubular Syndrome 2
Global Category
Genetic diseases
Anatomical Category
Bone diseases;Nephrological diseases
Disease Name
Fanconi Renotubular Syndrome 3
Global Category
Genetic diseases
Anatomical Category
Bone diseases;Nephrological diseases
Disease Name
Fanconi-Bickel Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004|MSH2017_2016_08_12:A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.|CSP2006:lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells.NCI2016_NICHD_1602D:A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction.|NCI2016_02D:A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.|MSH2017_2016_08_12:A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.NCI2016_NICHD_1602D:A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.|NCI2016_02D:A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.(NICHD)|CSP2006:constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMale 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 DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or SyndromeDisease or Syndrome; Congenital Abnormality