Fanconi renotubular syndrome 2

Preferred Label : Fanconi renotubular syndrome 2;

Symbol : FRTS2;

CISMeF acronym : FRTS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 34 (sodium phosphate cotransporter), member 1 gene (SLC34A1, 182309.0003);

Laboratory abnormalities : Hypophosphatemia; Increased serum alkaline phosphatase activity of skeletal origin; 1,25-dihydroxyvitamin D was elevated in childhood but deficient in adulthood; Hypercalciuria (in childhood); Glucosuria; Aminoaciduria, generalized; Urinary excretion of low-molecular-weight proteins, mild; Increased fractional excretion of uric acid;

Prefixed ID : #613388;

Détails

Origin ID

613388;

UMLS CUI

C3150652;

Currated CISMeF NLP mapping
- Fanconi renotubular syndrome 2 [DO Concept]
DO Cross reference
- Fanconi renotubular syndrome 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated alkaline phosphatase of bone origin [HPO term]
- Generalized aminoaciduria [HPO term]
- Glycosuria [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Muscle weakness [HPO term]
- Osteopenia [HPO term]
- Proximal tubulopathy [HPO term]
- Renal insufficiency [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Primary Fanconi renotubular syndrome [ORDO Disease]
See also inter- (CISMeF)
- Primary Fanconi renotubular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients