Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Preferred Label : Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;

Type : Phenotype, molecular basis known;

Description : Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0001);

Laboratory abnormalities : Low-molecular-weight proteinuria; Hypercalciuria; Microscopic hematuria; Glycosuria (less common); Aminoaciduria (less common); Hypophosphatemia (less common);

Prefixed ID : #308990;

Details

Origin ID

308990;

UMLS CUI

C1839874;

Automatic exact mappings (from CISMeF team)
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
- Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis [MeSH concept]
- low molecular weight proteinuria with hypercalciuria and nephrocalcinosis [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Dent disease [ORDO Disease]
DO Cross reference
- low molecular weight proteinuria with hypercalciuric nephrocalcinosis [DO Concept]
Genes related to phenotype
- Chloride channel 5 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Beta 2-microglobulinuria [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Glycosuria [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Hyposthenuria [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Microscopic hematuria [HPO term]
- Nephrocalcinosis [HPO term]
- Proximal tubulopathy [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- X-linked recessive inheritance [HPO term]
- focal glomerulosclerosis [HPO term]
ORDO concept(s)
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis [MeSH concept]
- low molecular weight proteinuria with hypercalciuria and nephrocalcinosis [MeSH Supplementary Concept]

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