Renal glucosuria

Preferred Label : Renal glucosuria;

Symbol : GLYS;

CISMeF acronym : GLYS; GLYS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycosuria, renal; GLYS1;

Description : Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per d (Santer and Calado, 2010).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 5 (sodium/glucose cotransporter), member 2 gene (SLC5A2, 182381.0001);

Prefixed ID : #233100;

Détails

Origin ID

233100;

UMLS CUI

C3245525;

Currated CISMeF NLP mapping
- Familial renal glucosuria [ICD-11 More detail]
- Familial renal glucosuria [ORDO Disease]
- Familial renal glucosuria (disorder) [SNOMED CT concept]
- Familial renal glycosuria [MedDRA Preferred Term]
- Glycosuria renal [MedDRA LLT]
- Renal glycosuria [ICD-11 Sub-sub category]
- Renal glycosuria [ICD-9 code]
- Renal glycosuria [MedDRA Preferred Term]
- Renal glycosuria (disorder) [SNOMED CT concept]
- glycosuria, renal [MeSH Descriptor]
- glycosuria, renal [MeSH concept]
- renal glucosuria, nos [SNOMED Notion]
- renal glycosuria [DO Concept]
DO Cross reference
- renal glycosuria [DO Concept]
Genes related to phenotype
- Solute carrier family 5 (sodium/glucose cotransporter), member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Enuresis nocturna [HPO term]
- Glycosuria [HPO term]
- Polydipsia [HPO term]
- Polyphagia [HPO term]
- Polyuria [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial renal glucosuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial renal glucosuria (disorder) [SNOMED CT concept]
- Familial renal glycosuria [MedDRA Preferred Term]
- Glycosuria renal [MedDRA LLT]
- Other complications of surgical and medical care, not elsewhere classified [ICD-10 category (who)]
- Renal diabetes (disorder) [Inactive SNOMED CT concept]
- Renal glycosuria [ICD-9 code]
- Renal glycosuria [MedDRA Preferred Term]
- Renal glycosuria (disorder) [SNOMED CT concept]
- glycosuria, renal [MeSH Descriptor]
- glycosuria, renal [MeSH concept]
- renal glucosuria, nos [SNOMED Notion]
- renal glycosuria [DO Concept]
Validated automatic mappings to NTBT
- Other specified disorders of carbohydrate metabolism [ICD-10 Sub-category]

Position du mot-clé dans l'(les) arborescence(s) :

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