CTNS gene related symptoms and diseases
All the information presented here about the CTNS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CTNS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Common - Between 50% and 80% cases |
| Corneal crystals | Common - Between 50% and 80% cases |
| Retinal pigment epithelial mottling | Uncommon - Between 30% and 50% cases |
| Rickets | Uncommon - Between 30% and 50% cases |
| Vomiting | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CTNS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Proteinuria
- Pigmentary retinopathy
- Dehydration
- Renal tubular dysfunction
- Polydipsia
- Short stature
- Muscle weakness
- Fever
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CTNS gene
Here you will find a list of rare diseases related to the CTNS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULAR CYSTINOSIS
Alternate names
OCULAR CYSTINOSIS Is also known as non-nephropathic cystinosis, adult-onset cystinosis
Description
Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
More info about OCULAR CYSTINOSIS
SOURCES: ORPHANET
JUVENILE NEPHROPATHIC CYSTINOSIS
Alternate names
JUVENILE NEPHROPATHIC CYSTINOSIS Is also known as juvenile cystinosis, intermediate cystinosis
Description
Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, 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.
More info about JUVENILE NEPHROPATHIC CYSTINOSIS
SOURCES: ORPHANET
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.
Most common symptoms of NEPHROPATHIC INFANTILE CYSTINOSIS
- Growth delay
- Failure to thrive
- Cognitive impairment
- Vomiting
- Constipation
More info about NEPHROPATHIC INFANTILE CYSTINOSIS
SOURCES: ORPHANET
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Alternate names
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate
Most common symptoms of CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
- Short stature
- Failure to thrive
- Muscle weakness
- Visual impairment
- Fever
More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CYSTINOSIS, NEPHROPATHIC; CTNS
Alternate names
CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of, lysosomal cystine transport protein, defect of
Description
Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.
Most common symptoms of CYSTINOSIS, NEPHROPATHIC; CTNS
- Short stature
- Growth delay
- Muscle weakness
- Cognitive impairment
- Hepatomegaly
More info about CYSTINOSIS, NEPHROPATHIC; CTNS
SOURCES: OMIM
CYSTINOSIS, ADULT NONNEPHROPATHIC
Alternate names
CYSTINOSIS, ADULT NONNEPHROPATHIC Is also known as cystinosis, benign nonnephropathic, cystinosis, ocular 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).
Most common symptoms of CYSTINOSIS, ADULT NONNEPHROPATHIC
- Photophobia
- Proteinuria
- Aciduria
- Corneal dystrophy
- Renal tubular dysfunction
More info about CYSTINOSIS, ADULT NONNEPHROPATHIC
SOURCES: OMIM
Search interest in CTNS
Potential gene panels for CTNS gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
CTNS Sequence analysis and 57 kb deletion analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CTNS gene.
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Argentina.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
CTNS. Detection of the mutations p.Trp138X, p.Thr7Phe, p.Gln128X, p.Trp182Arg, p.Leu158Pro, p.Gly308Arg, p.Asp205del and p.Ile133Proby sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CTNS gene.
More info about this panel Spain.
CTNS. Detection of the deletion 57Kb (exons 1 to 10) by microsatellite analysis Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CTNS gene.
More info about this panel Spain.
CTNS. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CTNS gene.
More info about this panel Spain.
Cystinosis (sequence analysis of CTNS gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CTNS gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Cystinosis Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CTNS gene.
More info about this panel Germany.
Cystinosis, late-onset juvenile or adolescent nephropathic Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CTNS gene.
More info about this panel Germany.
Cystinosis via the CTNS gene, 57-kb Deletion Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CTNS gene.
More info about this panel United States.
Cystinosis via CTNS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CTNS gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Cystinosis Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the CTNS gene.
More info about this panel Germany.
Cystinosis, nephropathic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CTNS gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Cystinosis, nephropathic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CTNS gene.
More info about this panel Germany.
Lysosomal Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Estonia.
Cystinosis Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the CTNS gene.
More info about this panel Colombia.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
Invitae Cystinosis Test Panel
United States.
By Invitae
This panel specifically test the CTNS gene.
More info about this panel United States.
Cystinosis: CTNS gene sequence analysis and deletion analysis (~65kb) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CTNS gene.
More info about this panel Spain.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Cystinosis (CTNS) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the CTNS gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
CTNS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTNS gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Cystinosis��� Panel
Spain.
By Bioarray
This panel specifically test the CTNS gene.
More info about this panel Spain.
Cystinosis��� Panel
Spain.
By Bioarray
This panel specifically test the CTNS gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
CYSTINOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CTNS gene.
More info about this panel Spain.
Cystinosis , Sequencing CTNS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CTNS gene.
More info about this panel Spain.
Cystinosis, Deletions-Duplications (MLPA) CTNS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CTNS gene.
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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