Cystinuria - CISMeF

Preferred Label : Cystinuria;

CISMeF acronym : CSNU; CSNU1; CSNU3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystinuria, type I; Cystinuria, type II; Cystinuria, type III; Cystinuria, type non-I; CSNU; CSNU1; CSNU3;

Included titles and symbols : Cystinuria, type a; Cystinuria, type b; Cystinuria, type a/b;

Description : Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1 gene (SLC3A1, 104614.0001); Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y system), member 9 gene (SLC7A9, 604144.0001);

Laboratory abnormalities : Increased urinary excretion of cystine; Increase urinary excretion of lysine, arginine, and ornithine;

Prefixed ID : #220100;

Details

Origin ID

220100;

UMLS CUI

C0010691;

Automatic exact mappings (from CISMeF team)
- SLC3A1 wt Allele [NCIt concept]
- SLC7A9 wt Allele [NCIt concept]
- solute carrier family 3 member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Cystine urine present [MedDRA Preferred Term]
- Cystinosis [ORDO Disease]
- Cystinosis [MedDRA Preferred Term]
- Cystinuria [PASCAL descriptor]
- Cystinuria [ICD-11 Subcategory]
- Cystinuria [HPO term]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [NCIt concept]
- Cystinuria [ORDO Disease]
- Cystinuria (disorder) [SNOMED CT concept]
- Cystinuria type A [ICD-11 More detail]
- Cystinuria type A [ORDO Disease]
- Cystinuria type B [ORDO Disease]
- Cystinuria, Type B [MeSH concept]
- Disorder of amino acid absorption and transport [ORDO Disease]
- Disorders of amino-acid transport [ICD-10 Sub-category]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [PASCAL descriptor]
- cystinosis [MeSH Descriptor]
- cystinosis [Disease (Nov.)]
- cystinuria [DO Concept]
- cystinuria [Disease (Nov.)]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [MeSH Descriptor]
- cystinuria [MeSH concept]
- cystinuria, nos [SNOMED Notion]
- cystinuria, type A [MeSH Supplementary Concept]
- cystinuria, type A [MeSH concept]
- hartnup disease [MeSH concept]
DO Cross reference
- cystinuria [DO Concept]
Genes related to phenotype
- Solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1 [OMIM gene]
- Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 [OMIM gene]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Argininuria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cystinuria [HPO term]
- Hyperlysinuria [HPO term]
- Nephrolithiasis [HPO term]
- Ornithinuria [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Cystinuria [ORDO Disease]
- Cystinuria type A [ORDO Disease]
- Cystinuria type B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [NCIt concept]
- Cystinuria [HPO term]
- Cystinuria (disorder) [SNOMED CT concept]
- cystinuria [MeSH Descriptor]
- cystinuria [MeSH concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [DO Concept]
- cystinuria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Cystinuria type B [ICD-11 More detail]

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