Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis

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}.

Clinical Features

Top most frequent phenotypes and symptoms related to Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Cataract
  • Cognitive impairment
  • Intellectual disability, mild
  • Renal insufficiency
  • Elevated serum creatine phosphokinase

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis extracted from public data.

Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis Experts map



Current Researchs and researchers

  • GRENOBLE — Pr Joël LUNARDI

    Responsible for diagnostic tests - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Département de biochimie, toxicologie et pharmacologie, CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
    • Research area/topic::

      Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?


  • BARCELONA — Dr Elisabet ARS CRIACH

    Genetic counsellor - Responsible for diagnostic tests - Investigator of research project - Director of department

    • Institution/s:
      — Fundació Puigvert
    • Research area/topic::

      Genomic study of early-onset nephropathies



Mendelian

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Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis 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 %

We have 38 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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