Nephropathic Infantile Cystinosis

Description

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Clinical Features

Top most frequent phenotypes and symptoms related to Nephropathic Infantile Cystinosis

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation
  • Acidosis
  • Photophobia
  • Abnormality of the cerebral white matter
  • Pigmentary retinopathy
  • Dehydration

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 Nephropathic Infantile Cystinosis extracted from public data.

Nephropathic Infantile Cystinosis Experts map



Current Researchs and researchers

  • ROMA — Dr Francesco EMMA

    Coordinator of expert centre - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Dipartimento di Nefrologia e Urologia, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
    • Research area/topic::

      NTC study: Novel Therapies for Cystinosis - IT


Nephropathic Infantile Cystinosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
CTNS Sequence analysis and 57 kb deletion analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CTNS
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)

View the complete list with 30 more genes
Specificity
2 %
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 %
CTNS. Detection of the mutations p.Trp138X, p.Thr7Phe, p.Gln128X, p.Trp182Arg, p.Leu158Pro, p.Gly308Arg, p.Asp205del and p.Ile133Proby sequencing.

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

CTNS
Specificity
100 %
Genes
100 %
CTNS. Detection of the deletion 57Kb (exons 1 to 10) by microsatellite analysis.

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

CTNS
Specificity
100 %
Genes
100 %

You can get up to 42 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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