Dent Disease 1

Description

The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (OMIM ), X-linked recessive hypophosphatemic rickets (OMIM ), and low molecular weight proteinuria (OMIM ). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004).Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. Genetic Heterogeneity of Dent DiseaseSee also Dent disease-2 (OMIM ), caused by mutation in the OCRL gene (OMIM ) on chromosome Xq26.

Clinical Features

Top most frequent phenotypes and symptoms related to Dent Disease 1

  • Short stature
  • Renal insufficiency
  • Proteinuria
  • Recurrent fractures
  • Nephrolithiasis
  • Bone pain
  • Aminoaciduria
  • Nephrocalcinosis
  • Chronic kidney disease
  • Hypercalciuria

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Dent Disease 1 Is also known as urolithiasis, hypercalciuric, x-linked, nephrolithiasis 2, nephrolithiasis, hypercalciuric, x-linked, nphl2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dent Disease 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
CLCN5 Gene Sequencing.

By GeneDx (United States).

CLCN5
Specificity
100 %
Genes
100 %
CLCN5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CLCN5
Specificity
100 %
Genes
100 %
Dent disease type I (sequence analysis of CLCN5 gene).

By CGC Genetics (Portugal).

CLCN5
Specificity
100 %
Genes
100 %
Rickets (NGS panel for 10 genes).

By CGC Genetics (Portugal).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION PSEUDOHYPOPARATHYROIDISM TYPE 1A PARASTREMMATIC DWARFISM MOYAMOYA DISEASE 2; MYMY2 ECTOPIA LENTIS ET PUPILLAE DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA

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