Nephrolithiasis/osteoporosis, hypophosphatemic, 1

Preferred Label : Nephrolithiasis/osteoporosis, hypophosphatemic, 1;

Symbol : NPHLOP1;

CISMeF acronym : NPHLOP1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 1 gene (SLC34A1, 182309.0001);

Laboratory abnormalities : Hypophosphatemia; Hyperphosphaturia; Hypercalciuria; Increased serum 1,25-dihydroxyvitamin D;

Prefixed ID : #612286;

Details

Origin ID

612286;

UMLS CUI

C2676786;

Automatic exact mappings (from CISMeF team)
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis [ORDO Disease]
Currated CISMeF NLP mapping
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 1 [MeSH Supplementary Concept]
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 1 [MeSH concept]
- hypophosphatemic nephrolithiasis/osteoporosis 1 [DO Concept]
DO Cross reference
- hypophosphatemic nephrolithiasis/osteoporosis 1 [DO Concept]
Genes related to phenotype
- Solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypophosphatemia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Nephrolithiasis [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Renal phosphate wasting [HPO term]
ORDO concept(s)
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 1 [MeSH Supplementary Concept]
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 1 [MeSH concept]
- hypophosphatemic nephrolithiasis/osteoporosis 1 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients