Fanconi renotubular syndrome 1

Preferred Label : Fanconi renotubular syndrome 1;

Symbol : FRTS1;

CISMeF acronym : FRTS; FRTS1; RFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Renal fanconi syndrome; RFS; Fanconi syndrome without cystinosis; Adult fanconi syndrome; Fanconi renotubular syndrome; Luder-sheldon syndrome; FRTS;

Description : Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). - Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also autosomal recessive FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35, and autosomal dominant FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the L-arginine:glycine amidinotransferase gene (GATM, 602360.0006);

Laboratory abnormalities : Phosphaturia; Proteinuria; Hypophosphatemia; Hypokalemia (in some patients); Aminoaciduria; Glucosuria;

Prefixed ID : #134600;

Details

Origin ID

134600;

UMLS CUI

C4551503;

Currated CISMeF NLP mapping
- De Toni-Debre-Fanconi syndrome [PASCAL descriptor]
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi Syndrome [NCIt concept]
- Fanconi renotubular syndrome 1 [DO Concept]
- Fanconi syndrome [DO Concept]
- Fanconi syndrome [ICD-11 Sub-sub category]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome [Disease (Nov.)]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Glucoaminophosphaturia syndrome (disorder) [SNOMED CT concept]
- Primary Fanconi renotubular syndrome [ORDO Disease]
- Renal Fanconi syndrome [HPO term]
- Toni-Debre-Fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome, nos [SNOMED Notion]
- glucoaminophosphaturia syndrome [SNOMED Notion]
DO Cross reference
- Fanconi renotubular syndrome 1 [DO Concept]
False automatic mappings
- Adult Fanconi Syndrome [NCIt concept]
- Adult Fanconi syndrome (disorder) [SNOMED CT concept]
- FLT1 wt Allele [NCIt concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome [MeSH concept]
- fanconi syndrome without cystinosis [MeSH concept]
Genes related to phenotype
- L-arginine:glycine amidinotransferase [OMIM gene]
HPO term(s)
- Acidosis [HPO term]
- Aminoaciduria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Glycosuria [HPO term]
- Hypokalemia [HPO term]
- Hypophosphatemia [HPO term]
- Lacticaciduria [HPO term]
- Muscle weakness [HPO term]
- Osteomalacia [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular dysfunction [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Primary Fanconi renotubular syndrome [ORDO Disease]
See also inter- (CISMeF)
- RPA1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult Fanconi Syndrome [NCIt concept]
- Adult Fanconi syndrome (disorder) [SNOMED CT concept]
- Glucoaminophosphaturia syndrome (disorder) [SNOMED CT concept]
- Primary Fanconi renotubular syndrome [ORDO Disease]
- Renal Fanconi syndrome [HPO term]
- fanconi syndrome without cystinosis [MeSH concept]
- glucoaminophosphaturia syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Fanconi syndrome [Disease (Nov.)]

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