Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Preferred Label : Nephrolithiasis/osteoporosis, hypophosphatemic, 2;

Symbol : NPHLOP2;

CISMeF acronym : NPHLOP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 9, isoform A3, regulatory factor 1 gene (SLC9A3R1, 604990.0001);

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

Prefixed ID : #612287;

Details

Origin ID

612287;

UMLS CUI

C2676782;

Automatic exact mappings (from CISMeF team)
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis [ORDO Disease]
- NHERF1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 2 [MeSH concept]
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 2 [MeSH Supplementary Concept]
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]
DO Cross reference
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 9, member 3, regulator 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [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, 2 [MeSH Supplementary Concept]
- Nephrolithiasis-Osteoporosis, hypophosphatemic, 2 [MeSH concept]
- hypophosphatemic nephrolithiasis/osteoporosis 2 [DO Concept]

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