Cystinosis, Adult Nonnephropathic

Description

Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (OMIM ), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., 2000).

Clinical Features

Phenotypes and symptoms related to Cystinosis, Adult Nonnephropathic

  • Photophobia
  • Proteinuria
  • Aciduria
  • Corneal dystrophy
  • Renal tubular dysfunction
  • Multiple myeloma
  • Corneal crystals
  • Retinal pigment epithelial mottling
  • Crystalline corneal dystrophy

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.

Alternative names

Cystinosis, Adult Nonnephropathic Is also known as cystinosis, benign nonnephropathic, cystinosis, ocular nonnephropathic.

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.

Cystinosis, Adult Nonnephropathic 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

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Sources and references

You can check the following sources for additional information.

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