MCID: CYS010
MIFTS: 61

Cystinosis

Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 73 25 20 43 58 36 29 54 6 44 15 39
Cystine Storage Disease 12 20 43
Protein Defect of Cystin Transport 58
Nephropathic Cystinosis 70
Cystine Diathesis 20
Cystine Disease 20
Cystinoses 20

Characteristics:

Orphanet epidemiological data:

58
cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (Germany),1-9/100000 (United Kingdom),1-9/1000000 (Australia),1-9/100000 (Europe),1-9/1000000 (Denmark),1-9/1000000 (Sweden),1-9/100000; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Cystinosis

MedlinePlus Genetics : 43 Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties.People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.

MalaCards based summary : Cystinosis, also known as cystine storage disease, is related to cystinosis, nephropathic and fanconi syndrome, and has symptoms including photophobia, polydipsia and polyuria. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Lysosome and Folate Metabolism. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid, and related phenotypes are failure to thrive and hypothyroidism

Disease Ontology : 12 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has material basis in mutations in the CTNS gene, located on chromosome 17.

GARD : 20 Cystinosis is a genetic condition present from birth that leads to the build-up of cystine crystals in the body. This can impact all the organs and tissues, but mainly affects the kidneys and eyes. There are three types of cystinosis based on the age that symptoms start. The most common is the type that starts in infancy. Early symptoms include poor feeding, vomiting, and dehydration. If left untreated, cystinosis leads to kidney and eye damage which gets worse over time. The adult form of cystinosis primarily affects the eyes, causing light sensitivity. Cystinosis is caused by genetic changes ( DNA variants) in the CTNS gene and is inherited in an autosomal recessive pattern. It is diagnosed by checking for cystine levels in the blood, by genetic testing, or by an eye examination. Treatment is available using medications that absorb extra cystine from the body. Some people require a kidney transplant.

KEGG : 36 Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.

Wikipedia : 73 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews: NBK1400

Related Diseases for Cystinosis

Diseases related to Cystinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 33.1 TAX1BP3 CTNS
2 fanconi syndrome 31.7 SLC66A1 LRP2 FGF23 CUBN CTNS ALB
3 rickets 30.6 GC FGF23 ALB
4 metabolic acidosis 30.3 OPLAH FGF23 ALB
5 proteinuria, chronic benign 30.3 LRP2 INS CUBN ALB
6 sedoheptulokinase deficiency 30.2 SHPK CTNS
7 uremia 29.8 LCAT INS ALB
8 hyperparathyroidism 29.8 GC GAST FGF23 ALB
9 bone resorption disease 29.7 INS FGF23 ALB
10 calciphylaxis 29.7 FGF23 ALB
11 kidney disease 29.7 LRP2 LCAT INS FGF23 CUBN ALB
12 nephrotic syndrome 29.7 LRP2 LCAT GC CUBN ALB
13 secondary hyperparathyroidism 29.6 GC FGF23 ALB
14 constipation 29.5 TRPV1 INS GAST ALB
15 chronic kidney disease 29.4 LCAT INS GC FGF23 ALB
16 cystinosis, adult nonnephropathic 11.7
17 cystinosis, late-onset juvenile or adolescent nephropathic type 11.7
18 fanconi renotubular syndrome 1 11.1
19 lysosomal storage disease 11.1
20 5-oxoprolinase deficiency 10.9
21 autosomal recessive disease 10.6
22 ifap syndrome 2 10.6
23 hypothyroidism 10.5
24 end stage renal disease 10.5
25 myopathy 10.5
26 cystinuria 10.3
27 fanconi-like syndrome 10.3 LRP2 CUBN
28 ankylosing spondylitis 1 10.3 FGF23 ALB
29 renal tubular transport disease 10.3 LRP2 CUBN CTNS
30 dent disease 1 10.3 LRP2 CUBN CTNS
31 renal tubular acidosis 10.2
32 miyoshi muscular dystrophy 10.2
33 bartter disease 10.2
34 hypokalemia 10.2
35 congenital intrinsic factor deficiency 10.2 LRP2 CUBN ALB
36 ostertagiasis 10.2 GAST ALB
37 portal hypertension 10.2
38 hypervitaminosis d 10.2 GC FGF23
39 corneal deposit 10.2 LCAT CTNS
40 familial lcat deficiency 10.2 LCAT ALB
41 bone disease 10.2
42 aminoaciduria 10.2
43 cerebral atrophy 10.2
44 tropical sprue 10.1 GAST ALB
45 sea-blue histiocyte disease 10.1 SLC66A1 LCAT
46 donnai-barrow syndrome 10.1 LRP2 GC CUBN
47 critical illness polyneuropathy 10.1 INS ALB
48 melon allergy 10.1 GAST ALB
49 hypogonadism 10.1
50 keratopathy 10.1

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
7 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
8 renal tubular dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000124
9 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
10 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
11 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
12 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
13 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
14 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
15 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
16 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
17 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
18 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
19 nephrogenic diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009806
20 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
21 type i diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100651
22 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
23 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
24 rickets 58 31 frequent (33%) Frequent (79-30%) HP:0002748
25 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
26 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
27 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
28 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
29 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
30 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
31 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
32 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
33 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824

UMLS symptoms related to Cystinosis:


photophobia; polydipsia; polyuria

GenomeRNAi Phenotypes related to Cystinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-3 9.77 SHPK
2 Decreased viability GR00221-A-4 9.77 SHPK
3 Decreased viability GR00231-A 9.77 SQSTM1
4 Decreased viability GR00249-S 9.77 ALB
5 Decreased viability GR00381-A-1 9.77 CASP4 SQSTM1
6 Decreased viability GR00386-A-1 9.77 ALB CTNS LRP2 TAX1BP3
7 Decreased viability GR00402-S-2 9.77 LCAT SQSTM1 TAX1BP3
8 Increased the percentage of infected cells GR00402-S-1 8.32 TRPV1

MGI Mouse Phenotypes related to Cystinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ALB BECN1 CASP4 CTNS CUBN FGF23
2 endocrine/exocrine gland MP:0005379 9.96 ALB BECN1 CASP4 FGF23 GAST GC
3 immune system MP:0005387 9.7 ALB BECN1 CASP4 FGF23 GAST INS
4 renal/urinary system MP:0005367 9.32 ALB BECN1 CASP4 CTNS CUBN FGF23

Drugs & Therapeutics for Cystinosis

Drugs for Cystinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
3 Respiratory System Agents Phase 4
4 Protective Agents Phase 4
5 Expectorants Phase 4
6 N-monoacetylcystine Phase 4
7 Antioxidants Phase 4
8 Anti-Infective Agents Phase 4
9 Antidotes Phase 4
10 Antiviral Agents Phase 4
11
Cysteamine Approved, Investigational Phase 3 60-23-1 6058
12 Ophthalmic Solutions Phase 2
13 Pharmaceutical Solutions Phase 2
14 Cardiac Glycosides Phase 2
15
Capsaicin Approved Early Phase 1 404-86-4 1548943
16
Sodium citrate Approved, Investigational 68-04-2
17
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
18 Dermatologic Agents Early Phase 1
19 Citrate

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine Can Decrease the Progression of Renal Disease in Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With Cystinosis Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules
3 A Randomized, Crossover Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients With Nephropathic Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
4 An Open-Label, Safety and Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naïve Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
5 A Long-Term, Open-Label, Safety, Tolerability and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
6 Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old Recruiting NCT04125927 Phase 3 Mercaptamine
7 A Pilot Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cysteamine Bitartrate (Cystagon®) in Patients With Nephropathic Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
8 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
9 Phase 1/2 Study to Determine Safety and Efficacy of Transplantation w/ Autologous Human CD34+ Cells From Mobilized Peripheral Blood Stem Cells of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS Lentiviral Vector Recruiting NCT03897361 Phase 1, Phase 2
10 A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations Terminated NCT04069260 Phase 2 ELX-02
11 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
12 Safety and Efficacy Trial of a Proposed NDA Formulation of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
13 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
14 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
15 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Cysteamine
16 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 cysteamine hydrochloride
17 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
18 Renal Transplantation in Recipients With Nephropathic Cystinosis Completed NCT00074516
19 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
20 Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy Adults Completed NCT01432561 Cysteamine bitartrate
21 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
22 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250
23 Salivary Proteomics in Disease and Health Completed NCT00100204
24 A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study. Recruiting NCT03919981
25 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
26 Cure Cystinosis International Registry Recruiting NCT01327807
27 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02837523
28 Multicentre, Ambispective, Observational, Real Life Study to Assess the Quality of Life Effectiveness of Extended Release (ER) Oral Cysteamine Therapy (Procysbi) in Belgian Patients Suffering From Nephropathic Cystinosis Enrolling by invitation NCT04246060 Cysteamine Bitartrate
29 The Effect of Exercise on Muscle Dysfunction in Cystinosis Not yet recruiting NCT04071548

Search NIH Clinical Center for Cystinosis

Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

Genetic tests related to Cystinosis:

# Genetic test Affiliating Genes
1 Cystinosis 29

Anatomical Context for Cystinosis

MalaCards organs/tissues related to Cystinosis:

40
Kidney, Eye, Thyroid, Bone, Testes, Pancreas, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 1338)
# Title Authors PMID Year
1
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 25 6 54 61
19863563 2009
2
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 6 25 54 61
12442267 2002
3
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 54 61 6 25
12204010 2002
4
CTNS mutations in African American patients with cystinosis. 25 6 61 54
11708862 2001
5
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. 25 54 61 6
11505338 2001
6
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. 54 61 6 25
10673275 2000
7
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 61 25 6 54
10625078 2000
8
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 6 61 25 54
10556299 1999
9
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 25 54 6 61
10482956 1999
10
CTNS mutations in patients with cystinosis. 25 54 6 61
10571941 1999
11
CTNS mutations in an American-based population of cystinosis patients. 6 25 61 54
9792862 1998
12
First Successful Conception Induced by a Male Cystinosis Patient. 61 6 25
28405942 2018
13
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. 25 6 61
21546516 2011
14
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 61 25 6
18178779 2008
15
Mutational spectrum of the CTNS gene in Italy. 61 6 25
12825071 2003
16
New aspects of the pathogenesis of cystinosis. 25 6 61
12644911 2003
17
Cystinosis. 25 6 61
12110740 2002
18
Mutations of CTNS causing intermediate cystinosis. 61 25 6
10444339 1999
19
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 61 6 25
9537412 1998
20
Characterization of CTNS mutations in Arab patients with cystinosis. 61 54 6
19852576 2009
21
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. 61 54 6
19580442 2009
22
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 61 6 54
15365816 2004
23
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 6 61 54
15128704 2004
24
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. 54 61 6
11855931 2002
25
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis. 6 61
31570786 2020
26
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. 6 61
30554218 2019
27
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. 6 61
30949462 2019
28
A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin. 61 6
29467429 2018
29
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. 6 61
29421779 2018
30
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. 61 6
28238446 2017
31
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 6 61
27858370 2017
32
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 6 61
27734949 2016
33
Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin. 6 61
27451386 2016
34
Cystinosis: a review. 61 6
27102039 2016
35
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 6 61
28276207 2016
36
CTNS mutations in publicly-available human cystinosis cell lines. 61 6
28649545 2015
37
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. 61 6
26565940 2015
38
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. 61 6
26266097 2015
39
Common mutation causes cystinosis in the majority of black South African patients. 6 61
25326109 2015
40
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. 6 61
24464559 2014
41
CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. 6 61
27625850 2013
42
In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis. 61 6
21963264 2013
43
The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran. 61 6
23640116 2013
44
Detailed studies of growth hormone secretion in cystinosis patients. 61 6
22664570 2012
45
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. 61 6
22528245 2012
46
Two novel CTNS mutations in cystinosis patients in Thailand. 6 61
22450360 2012
47
Genetic basis of cystinosis in Turkish patients: a single-center experience. 61 6
21786142 2012
48
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. 61 6
22232659 2012
49
Non-invasive measurements of atherosclerosis in adult cystinosis patients. 6 61
21305353 2011
50
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. 61 6
18752449 2008

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show top 50) (show all 555)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNS NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) SNV Pathogenic 4441 rs121908124 GRCh37: 17:3558349-3558349
GRCh38: 17:3655055-3655055
2 CTNS CTNS, 1-BP INS, -303T, PROMOTER Insertion Pathogenic 4454 GRCh37:
GRCh38:
3 CTNS NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) SNV Pathogenic 4456 rs121908128 GRCh37: 17:3563268-3563268
GRCh38: 17:3659974-3659974
4 CTNS NM_004937.3(CTNS):c.696dup (p.Val233fs) Duplication Pathogenic 21441 rs113994209 GRCh37: 17:3561312-3561313
GRCh38: 17:3658018-3658019
5 CTNS NM_004937.3(CTNS):c.255_256CT[1] (p.Ser86fs) Microsatellite Pathogenic 253206 rs879255614 GRCh37: 17:3558321-3558322
GRCh38: 17:3655027-3655028
6 CTNS NM_004937.3(CTNS):c.120del (p.Asn41fs) Deletion Pathogenic 253209 rs879255616 GRCh37: 17:3550795-3550795
GRCh38: 17:3647501-3647501
7 CTNS NM_004937.2:c.661insT Insertion Pathogenic 253207 GRCh37:
GRCh38:
8 CTNS NM_004937.3(CTNS):c.323del (p.Gln108fs) Deletion Pathogenic 253205 rs879255615 GRCh37: 17:3558389-3558389
GRCh38: 17:3655095-3655095
9 CTNS NM_004937.3(CTNS):c.91dup (p.Val31fs) Duplication Pathogenic 253208 rs879255613 GRCh37: 17:3550766-3550767
GRCh38: 17:3647472-3647473
10 CTNS NM_004937.3(CTNS):c.397A>T (p.Ile133Phe) SNV Pathogenic 267307 rs886040970 GRCh37: 17:3558582-3558582
GRCh38: 17:3655288-3655288
11 CTNS CTNS, -303G-T, PROMOTER SNV Pathogenic 4453 GRCh37:
GRCh38:
12 CTNS CTNS, -295G-C, PROMOTER SNV Pathogenic 4452 GRCh37:
GRCh38:
13 CTNS NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) SNV Pathogenic 4451 rs113994207 GRCh37: 17:3559997-3559997
GRCh38: 17:3656703-3656703
14 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs) Deletion Pathogenic 455787 rs879758262 GRCh37: 17:3552206-3552210
GRCh38: 17:3648912-3648916
15 CTNS NM_004937.3(CTNS):c.853-3C>G SNV Pathogenic 4449 rs113994210 GRCh37: 17:3563149-3563149
GRCh38: 17:3659855-3659855
16 CTNS CTNS, IVS7AS, C-G, -10 SNV Pathogenic 4448 GRCh37:
GRCh38:
17 CTNS NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) SNV Pathogenic 4446 rs121908126 GRCh37: 17:3559825-3559825
GRCh38: 17:3656531-3656531
18 overlap with 3 genes nsv1067862 Deletion Pathogenic 4445 GRCh37: 17:3504228-3561459
GRCh38: 17:3600934-3658165
19 overlap with 3 genes nsv1067862 Deletion Pathogenic 4445 GRCh37: 17:3504228-3561459
GRCh38: 17:3600934-3658165
20 overlap with 3 genes nsv1067862 Deletion Pathogenic 4445 GRCh37: 17:3504228-3561459
GRCh38: 17:3600934-3658165
21 CTNS NM_004937.3(CTNS):c.58_59TG[1] (p.Cys20_Glu21delinsTer) Microsatellite Pathogenic 4442 rs1567695026 GRCh37: 17:3543558-3543559
GRCh38: 17:3640264-3640265
22 CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs) Duplication Pathogenic 371084 rs893207601 GRCh37: 17:3560053-3560054
GRCh38: 17:3656759-3656760
23 CTNS NC_000017.11:g.(?_3636418)_(3658195_?)del Deletion Pathogenic 455786 GRCh37: 17:3539712-3561489
GRCh38: 17:3636418-3658195
24 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs) Deletion Pathogenic 455787 rs879758262 GRCh37: 17:3552206-3552210
GRCh38: 17:3648912-3648916
25 CTNS NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) SNV Pathogenic 505009 rs776842972 GRCh37: 17:3563169-3563169
GRCh38: 17:3659875-3659875
26 CTNS NM_004937.3(CTNS):c.971-12G>A SNV Pathogenic 526030 rs375952052 GRCh37: 17:3563518-3563518
GRCh38: 17:3660224-3660224
27 CTNS NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs) Indel Pathogenic 526031 rs1555564051 GRCh37: 17:3561368-3561371
GRCh38: 17:3658074-3658077
28 CTNS NC_000017.11:g.(?_3636418)_(3656815_?)del Deletion Pathogenic 526033 GRCh37: 17:3539712-3560109
GRCh38: 17:3636418-3656815
29 CTNS NM_004937.3(CTNS):c.971-12G>A SNV Pathogenic 526030 rs375952052 GRCh37: 17:3563518-3563518
GRCh38: 17:3660224-3660224
30 CTNS NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) SNV Pathogenic 551289 rs917630768 GRCh37: 17:3563189-3563189
GRCh38: 17:3659895-3659895
31 CTNS NM_004937.3(CTNS):c.829dup (p.Thr277fs) Duplication Pathogenic 551290 rs752919200 GRCh37: 17:3561445-3561446
GRCh38: 17:3658151-3658152
32 CTNS NM_004937.3(CTNS):c.681G>A (p.Glu227=) SNV Pathogenic 553330 rs778414542 GRCh37: 17:3560089-3560089
GRCh38: 17:3656795-3656795
33 CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs) Duplication Pathogenic 371084 rs893207601 GRCh37: 17:3560053-3560054
GRCh38: 17:3656759-3656760
34 CTNS NC_000017.11:g.(?_3647444)_(3658175_?)del Deletion Pathogenic 584155 GRCh37: 17:3550738-3561469
GRCh38: 17:3647444-3658175
35 CTNS NC_000017.11:g.(?_3657995)_(3660744_?)del Deletion Pathogenic 645871 GRCh37: 17:3561289-3564038
GRCh38: 17:3657995-3660744
36 CTNS NC_000017.11:g.(?_3636418)_(3658185_?)del Deletion Pathogenic 652375 GRCh37: 17:3539712-3561479
GRCh38: 17:3636418-3658185
37 CTNS NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) SNV Pathogenic 654346 rs1597647930 GRCh37: 17:3558614-3558614
GRCh38: 17:3655320-3655320
38 CTNS NC_000017.11:g.(?_3647434)_(3648941_?)del Deletion Pathogenic 658450 GRCh37: 17:3550728-3552235
GRCh38: 17:3647434-3648941
39 CTNS NM_004937.3(CTNS):c.682-1G>T SNV Pathogenic 664004 rs1057516771 GRCh37: 17:3561298-3561298
GRCh38: 17:3658004-3658004
40 CTNS NC_000017.11:g.(?_3647424)_(3648951_?)del Deletion Pathogenic 665648 GRCh37: 17:3550718-3552245
GRCh38: 17:3647424-3648951
41 CTNS NM_004937.3(CTNS):c.140+1G>T SNV Pathogenic 666181 rs1567701415 GRCh37: 17:3550817-3550817
GRCh38: 17:3647523-3647523
42 CTNS NC_000017.11:g.(?_3654988)_(3655362_?)del Deletion Pathogenic 831009 GRCh37: 17:3558282-3558656
GRCh38:
43 CTNS NM_004937.3(CTNS):c.61+5G>A SNV Pathogenic 836956 GRCh37: 17:3543566-3543566
GRCh38: 17:3640272-3640272
44 CTNS NM_004937.3(CTNS):c.829dup (p.Thr277fs) Duplication Pathogenic 551290 rs752919200 GRCh37: 17:3561445-3561446
GRCh38: 17:3658151-3658152
45 CTNS NM_004937.3(CTNS):c.62-2864_225+2278del Deletion Pathogenic 870585 GRCh37: 17:3547870-3554499
GRCh38: 17:3644576-3651205
46 CTNS NM_004937.3(CTNS):c.479del (p.Phe160fs) Deletion Pathogenic 870586 GRCh37: 17:3559797-3559797
GRCh38: 17:3656503-3656503
47 CTNS NM_004937.3(CTNS):c.61_61+2del Deletion Pathogenic 852141 GRCh37: 17:3543559-3543561
GRCh38: 17:3640265-3640267
48 CTNS NM_004937.3(CTNS):c.841dup (p.Tyr281fs) Duplication Pathogenic 856604 GRCh37: 17:3561457-3561458
GRCh38: 17:3658163-3658164
49 CTNS NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) SNV Pathogenic 935444 GRCh37: 17:3558618-3558618
GRCh38: 17:3655324-3655324
50 CTNS NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) SNV Pathogenic 958766 GRCh37: 17:3561407-3561407
GRCh38: 17:3658113-3658113

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Cystinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 LRP2 INS CUBN ALB
2 11.16 SQSTM1 INS BECN1
3 10.43 SLC66A1 CTNS

GO Terms for Cystinosis

Cellular components related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 TAX1BP3 SQSTM1 RAB27A LRP2 LCAT GC
2 lysosomal membrane GO:0005765 9.56 SLC66A1 LRP2 CUBN CTNS
3 endosome lumen GO:0031904 9.16 LRP2 INS
4 lysosome GO:0005764 9.1 SQSTM1 SLC66A1 RAB27A LRP2 CUBN CTNS

Biological processes related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.32 INS CTNS
2 high-density lipoprotein particle remodeling GO:0034375 9.26 LCAT ALB
3 mitophagy GO:0000423 9.16 SQSTM1 BECN1
4 response to mitochondrial depolarisation GO:0098780 8.96 SQSTM1 BECN1
5 vitamin D metabolic process GO:0042359 8.92 LRP2 GC FGF23 CUBN

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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