Nephrolithiasis, X-linked recessive, with renal failure

Preferred Label : Nephrolithiasis, X-linked recessive, with renal failure;

Symbol : XRN;

CISMeF acronym : NPHL1; XRN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urolithiasis, X-linked recessive, type 1; Nephrolithiasis 1; Nephrolithiasis, X-linked recessive, type 1; NPHL1;

Description : X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, 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, 300008.0005);

Laboratory abnormalities : Low-molecular-weight proteinuria; Hypercalciuria; Microscopic hematuria;

Prefixed ID : #310468;

Details

Origin ID

310468;

UMLS CUI

C0403720;

Automatic exact mappings (from CISMeF team)
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
- X-linked nephrolithiasis type I [DO Concept]
- chloride voltage-gated channel 5 [ORDO Gene]
- chloride voltage-gated channel 5 [HGNC gene]
- symbol withdrawn NPHL1 [HGNC gene]
Currated CISMeF NLP mapping
- X-linked recessive nephrolithiasis with renal failure (disorder) [SNOMED CT concept]
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH concept]
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH Supplementary Concept]
DO Cross reference
- X-linked nephrolithiasis type I [DO Concept]
Genes related to phenotype
- Chloride channel 5 [OMIM gene]
HPO term(s)
- Chronic kidney disease [HPO term]
- Glomerular sclerosis [HPO term]
- Hypercalciuria [HPO term]
- Interstitial fibrosis [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Microscopic hematuria [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Progressive renal insufficiency [HPO term]
- Proximal tubulopathy [HPO term]
- Renal failure in adulthood [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
Related ORDO disease(s)
- Dent disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked recessive nephrolithiasis with renal failure (disorder) [SNOMED CT concept]
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH Supplementary Concept]
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH concept]

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