MCID: CYS010
MIFTS: 59

Cystinosis

Categories: Blood diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 11 24 19 42 58 75 28 53 5 43 14 33
Cystine Storage Disease 11 19 42 33
Cystine Diathesis 19 33
Cystin Transport, Protein Defect of 75
Protein Defect of Cystine Transport 33
Protein Defect of Cystin Transport 58
Nephropathic Cystinosis 71
Cystine Disease 19
Cystinoses 19

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/1000000 (Worldwide, Europe, France, Germany, Australia, Denmark, Sweden) 1-9/100000 (United Kingdom, Europe, Specific population) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Cystinosis

MedlinePlus Genetics: 42 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, adult nonnephropathic and cystinosis, nephropathic, 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 Metabolism of steroids and Clock-controlled autophagy in bone metabolism. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and eye, and related phenotypes are failure to thrive and hypothyroidism

GARD: 19 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. The most common is the type that starts in infancy. Early symptoms include poor feeding, vomiting, and dehydration. Kidney problems and vision problems may also develop. 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.

Orphanet: 58 A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.

Disease Ontology: 11 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.

Wikipedia: 75 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the... 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 341)
# Related Disease Score Top Affiliating Genes
1 cystinosis, adult nonnephropathic 33.2 CTNS-AS1 CTNS
2 cystinosis, nephropathic 33.1 CTNS-AS1 CTNS
3 cystinosis, late-onset juvenile or adolescent nephropathic type 33.1 CTNS-AS1 CTNS
4 fanconi syndrome 32.1 SLC66A1 LRP2 GC FGF23 CUBN CTNS-AS1
5 rickets 31.0 GC FGF23 ALB
6 uremia 30.4 INS FGF23 ALB
7 hyperparathyroidism 30.3 GC GAST FGF23 ALB
8 nephrotic syndrome 30.3 LRP2 INS GC CUBN CTNS ALB
9 bowel dysfunction 30.2 TRPV1 INS ALB
10 calciphylaxis 30.0 FGF23 ALB
11 alport syndrome 29.9 LRP2 CUBN ALB
12 fanconi renotubular syndrome 1 11.2
13 lysosomal storage disease 10.7
14 end stage renal disease 10.6
15 hypothyroidism 10.5
16 myopathy 10.5
17 chronic kidney disease 10.4
18 corneal deposit 10.4 SLC66A1 CTNS
19 conjunctival deposit 10.4 FGF23 CTNS
20 abdominal obesity-metabolic syndrome 1 10.4
21 congenital intrinsic factor deficiency 10.4 LRP2 CUBN
22 fanconi-like syndrome 10.4 LRP2 CUBN
23 uvulitis 10.4 TRPV1 INS
24 kidney disease 10.4
25 dent disease 1 10.4 LRP2 CUBN CTNS
26 renal tubular transport disease 10.4 LRP2 CUBN CTNS
27 peptic ulcer perforation 10.4 GAST ALB
28 ankylosing spondylitis 1 10.3 FGF23 ALB
29 alcoholic ketoacidosis 10.3 INS ALB
30 hypervitaminosis d 10.3 GC FGF23
31 gastroduodenitis 10.3 GAST ALB
32 diamond-blackfan anemia 20 10.3 SQSTM1 LAMP2
33 cystinuria 10.3
34 critical illness polyneuropathy 10.3 INS ALB
35 liver carcinoma in situ 10.3 SQSTM1 BECN1
36 renal artery disease 10.3 INS ALB
37 gastritis, familial giant hypertrophic 10.3 GAST ALB
38 mediastinitis 10.3 INS ALB
39 central pontine myelinolysis 10.3 INS ALB
40 donnai-barrow syndrome 10.3 LRP2 GC CUBN
41 myopathy, x-linked, with excessive autophagy 10.3 SQSTM1 LAMP2 BECN1
42 inflammatory and toxic neuropathy 10.3 INS ALB
43 generalized atherosclerosis 10.3 INS ALB
44 danon disease 10.3 SQSTM1 LAMP2 BECN1
45 melon allergy 10.3 GAST ALB
46 tropical sprue 10.3 GAST CUBN ALB
47 nerve compression syndrome 10.3 TRPV1 INS ALB
48 paralytic ileus 10.3 INS ALB
49 diabetic polyneuropathy 10.3 TRPV1 INS ALB
50 aspiration pneumonia 10.3 TRPV1 INS ALB

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 hypothyroidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000821
3 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
4 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007957
5 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
6 proteinuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000093
7 nephropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000112
8 renal tubular dysfunction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000124
9 photophobia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000613
10 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000823
11 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001944
12 polydipsia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001959
13 vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002013
14 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002148
15 hypokalemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002900
16 myopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003198
17 aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003355
18 nephrogenic diabetes insipidus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009806
19 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
20 type i diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100651
21 motor stereotypy 30 Hallmark (90%) HP:0000733
22 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
23 retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000488
24 rickets 58 30 Frequent (33%) Frequent (79-30%)
HP:0002748
25 abnormal pyramidal sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007256
26 gait disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001288
27 malabsorption 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002024
28 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
29 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
30 portal hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001409
31 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
32 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
33 aphasia 30 Occasional (7.5%) HP:0002381
34 dysphasia 58 Occasional (29-5%)
35 stereotypy 58 Very frequent (99-80%)

UMLS symptoms related to Cystinosis:


photophobia; polydipsia; polyuria

MGI Mouse Phenotypes related to Cystinosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ALB BECN1 CASP4 CTNS CUBN FGF23
2 renal/urinary system MP:0005367 9.91 ALB BECN1 CASP4 CTNS CUBN FGF23
3 endocrine/exocrine gland MP:0005379 9.65 ALB BECN1 CASP4 FGF23 GAST GC
4 integument MP:0010771 9.28 BECN1 CASP4 FGF23 INS LAMP2 RAB27A

Drugs & Therapeutics for Cystinosis

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
2
Cysteine Approved, Nutraceutical Phase 4 52-90-4 594 5862
3 Antiviral Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Expectorants Phase 4
6 Antidotes Phase 4
7 N-monoacetylcystine Phase 4
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11
Cysteamine Approved, Investigational Phase 3 60-23-1 6058
12
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
13
Rituximab Approved Phase 1, Phase 2 174722-31-7
14
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
15
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
16
Biotin Approved, Investigational, Nutraceutical Phase 1, Phase 2 58-85-5 253 171548
17 Ophthalmic Solutions Phase 2
18 Pharmaceutical Solutions Phase 2
19 Alkylating Agents Phase 1, Phase 2
20 Antirheumatic Agents Phase 1, Phase 2
21 Vitamin B7 Phase 1, Phase 2
22 Antineoplastic Agents, Alkylating Phase 1, Phase 2
23 Antineoplastic Agents, Immunological Phase 1, Phase 2
24 Immunosuppressive Agents Phase 1, Phase 2
25 Immunologic Factors Phase 1, Phase 2
26 Cardiac Glycosides Phase 2
27
Capsaicin Approved Early Phase 1 404-86-4 1548943
28
Sodium citrate Approved, Investigational 68-04-2 23431961
29
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
30 Dermatologic Agents Early Phase 1
31 Citrate

Interventional clinical trials:

(show all 32)
# 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
2 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)
3 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
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 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
8 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
9 A Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector Recruiting NCT03897361 Phase 1, Phase 2
10 Phase 1b/2a Trial of Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) From an HLA-partially Matched Related or Unrelated Donor After TCRαβ+ T-cell/CD19+ B-cell Depletion for Patients Who Will Receive a Kidney Transplant (KT) From the Same HSCT/KT Donor Not yet recruiting NCT05508009 Phase 1, Phase 2 Cyclophosphamide 1200 mg/Kg;Fludarabine;Cyclophosphamide 100 mg/Kg;ATG;Rituximab;Melphalan
11 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
12 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
13 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
14 Cure Cystinosis International Registry Unknown status NCT01327807
15 The Effect of Exercise on Muscle Dysfunction in Cystinosis Unknown status NCT04071548
16 Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy Adults Completed NCT01432561 Cysteamine bitartrate
17 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250
18 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Completed NCT02012114
19 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
20 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
21 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 cysteamine hydrochloride
22 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
23 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
24 Renal Transplantation in Recipients With Nephropathic Cystinosis Completed NCT00074516
25 Salivary Proteomics in Disease and Health Completed NCT00100204
26 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
28 A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study. Recruiting NCT03919981
29 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02837523
30 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
31 Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients Not yet recruiting NCT05545774
32 A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received AVR-RD-04 (Also Known as CTNS-RD-04) Not yet recruiting NCT05146830

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 28

Anatomical Context for Cystinosis

Organs/tissues related to Cystinosis:

MalaCards : Kidney, Thyroid, Eye, Testes, Pancreas, Bone, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 1437)
# Title Authors PMID Year
1
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 53 62 24 5
12442267 2002
2
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 53 62 24 5
12204010 2002
3
CTNS mutations in African American patients with cystinosis. 53 62 24 5
11708862 2001
4
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. 53 62 24 5
11505338 2001
5
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 53 62 24 5
10625078 2000
6
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 53 62 24 5
10556299 1999
7
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 53 62 24 5
10482956 1999
8
CTNS mutations in patients with cystinosis. 53 62 24 5
10571941 1999
9
CTNS mutations in an American-based population of cystinosis patients. 53 62 24 5
9792862 1998
10
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 62 24 5
18178779 2008
11
Mutational spectrum of the CTNS gene in Italy. 62 24 5
12825071 2003
12
New aspects of the pathogenesis of cystinosis. 62 24 5
12644911 2003
13
Mutations of CTNS causing intermediate cystinosis. 62 24 5
10444339 1999
14
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 62 24 5
9537412 1998
15
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 53 62 5
15128704 2004
16
Testicular function in males with infantile nephropathic cystinosis. 62 5
33822926 2021
17
Non-invasive intradermal imaging of cystine crystals in cystinosis. 62 5
33661986 2021
18
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis. 62 5
31570786 2020
19
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. 62 5
30554218 2019
20
A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin. 62 5
29467429 2018
21
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. 62 5
28238446 2017
22
CTNS mutations in publicly-available human cystinosis cell lines. 62 5
28649545 2015
23
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. 62 5
26266097 2015
24
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. 62 5
24385851 2013
25
CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. 62 5
27625850 2013
26
Detailed studies of growth hormone secretion in cystinosis patients. 62 5
22664570 2012
27
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. 62 5
22528245 2012
28
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. 62 5
22232659 2012
29
The redox status of cystinotic fibroblasts. 62 5
20061170 2010
30
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 53 62 24
19863563 2009
31
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. 62 5
18752449 2008
32
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. 53 62 24
17699259 2006
33
Pharmacological treatment of nephropathic cystinosis with cysteamine. 53 62 24
15500372 2004
34
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. 62 5
11689434 2001
35
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. 62 5
11565547 2001
36
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. 53 62 24
11001803 2000
37
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. 53 62 24
10673275 2000
38
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. 5
30609409 2019
39
First Successful Conception Induced by a Male Cystinosis Patient. 62 24
28405942 2018
40
A variant by any name: quantifying annotation discordance across tools and clinical databases. 5
28122645 2017
41
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 5
27533158 2016
42
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. 62 24
27083281 2016
43
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 5
26489029 2016
44
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. 62 24
25526929 2015
45
Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. 62 24
25811383 2015
46
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. 62 24
22554716 2012
47
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. 62 24
21546516 2011
48
Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. 62 24
21248718 2011
49
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. 62 24
21371554 2011
50
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. 62 24
21195649 2011

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

5 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNS NM_004937.3(CTNS):c.120del (p.Asn41fs) DEL Pathogenic
253209 rs879255616 GRCh37: 17:3550795-3550795
GRCh38: 17:3647501-3647501
2 CTNS NM_004937.2:c.661insT INSERT Pathogenic
253207 GRCh37:
GRCh38:
3 CTNS NM_004937.3(CTNS):c.91dup (p.Val31fs) DUP Pathogenic
253208 rs879255613 GRCh37: 17:3550766-3550767
GRCh38: 17:3647472-3647473
4 CTNS NM_004937.3(CTNS):c.853-2A>G SNV Pathogenic
496277 rs1475322504 GRCh37: 17:3563150-3563150
GRCh38: 17:3659856-3659856
5 CTNS-AS1, CTNS NM_004937.3(CTNS):c.323del (p.Gln108fs) DEL Pathogenic
253205 rs879255615 GRCh37: 17:3558389-3558389
GRCh38: 17:3655095-3655095
6 CTNS-AS1, CTNS NM_004937.3(CTNS):c.257_258del (p.Ser86fs) MICROSAT Pathogenic
253206 rs879255614 GRCh37: 17:3558321-3558322
GRCh38: 17:3655027-3655028
7 CTNS NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del DEL Pathogenic
988187 GRCh37:
GRCh38:
8 CTNS-AS1, CTNS NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) MICROSAT Pathogenic
188718 rs760256854 GRCh37: 17:3560019-3560021
GRCh38: 17:3656725-3656727
9 CTNS NM_004937.3(CTNS):c.18_21del (p.Thr7fs) DEL Pathogenic
188834 rs786204501 GRCh37: 17:3543516-3543519
GRCh38: 17:3640222-3640225
10 CTNS-AS1, CTNS NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) SNV Pathogenic
4458 rs267606754 GRCh37: 17:3558601-3558601
GRCh38: 17:3655307-3655307
11 CTNS NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) SNV Pathogenic
267310 rs746307931 GRCh37: 17:3563221-3563221
GRCh38: 17:3659927-3659927
12 CTNS NM_004937.3(CTNS):c.771_793del (p.Gly258fs) DEL Pathogenic
496276 rs759623796 GRCh37: 17:3561376-3561398
GRCh38: 17:3658082-3658104
13 CTNS-AS1, CTNS NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) SNV Pathogenic
21440 rs113994208 GRCh37: 17:3560021-3560021
GRCh38: 17:3656727-3656727
14 CTNS NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) DEL Pathogenic
21438 rs113994204 GRCh37: 17:3552198-3552218
GRCh38: 17:3648904-3648924
15 CTNS NM_004937.3(CTNS):c.926dup (p.Ser310fs) DUP Pathogenic
188714 rs786204420 GRCh37: 17:3563220-3563221
GRCh38: 17:3659926-3659927
16 CTNS NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) SNV Pathogenic
4455 rs121908127 GRCh37: 17:3563574-3563574
GRCh38: 17:3660280-3660280
17 CTNS and overlap with 1 gene(s) NM_004937.3(CTNS):c.696_697dup (p.Val233fs) MICROSAT Pathogenic
551688 rs1555563982 GRCh37: 17:3561309-3561310
GRCh38: 17:3658015-3658016
18 CTNS-AS1, CTNS NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) SNV Pathogenic
4443 rs113994205 GRCh37: 17:3558599-3558599
GRCh38: 17:3655305-3655305
19 CTNS-AS1, CTNS NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) SNV Pathogenic
21439 rs113994206 GRCh37: 17:3559792-3559792
GRCh38: 17:3656498-3656498
20 CTNS-AS1, CTNS NM_004937.3(CTNS):c.681+1G>A SNV Pathogenic
966528 rs749317721 GRCh37: 17:3560090-3560090
GRCh38: 17:3656796-3656796
21 CTNS NM_004937.3(CTNS):c.971-12G>A SNV Pathogenic
526030 rs375952052 GRCh37: 17:3563518-3563518
GRCh38: 17:3660224-3660224
22 CTNS-AS1, CTNS NM_004937.3(CTNS):c.681G>A (p.Glu227=) SNV Pathogenic
553330 rs778414542 GRCh37: 17:3560089-3560089
GRCh38: 17:3656795-3656795
23 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs) DEL Pathogenic
455787 rs879758262 GRCh37: 17:3552206-3552210
GRCh38: 17:3648912-3648916
24 CTNS-AS1, CTNS NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) SNV Pathogenic
4451 rs113994207 GRCh37: 17:3559997-3559997
GRCh38: 17:3656703-3656703
25 CTNS-AS1, CTNS NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) SNV Pathogenic
935444 rs2076101632 GRCh37: 17:3558618-3558618
GRCh38: 17:3655324-3655324
26 CTNS-AS1, CTNS NM_004937.3(CTNS):c.559_561+24del DEL Pathogenic
21442 rs113994211 GRCh37: 17:3559867-3559893
GRCh38: 17:3656573-3656599
27 CTNS NM_004937.3(CTNS):c.829dup (p.Thr277fs) DUP Pathogenic
551290 rs752919200 GRCh37: 17:3561445-3561446
GRCh38: 17:3658151-3658152
28 CTNS-AS1, CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs) DUP Pathogenic
371084 rs893207601 GRCh37: 17:3560053-3560054
GRCh38: 17:3656759-3656760
29 CTNS NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) SNV Pathogenic/Likely Pathogenic
505009 rs776842972 GRCh37: 17:3563169-3563169
GRCh38: 17:3659875-3659875
30 CTNS-AS1, CTNS NM_004937.3(CTNS):c.423del (p.Phe142fs) DEL Likely Pathogenic
632779 rs1567709909 GRCh37: 17:3558607-3558607
GRCh38: 17:3655313-3655313
31 CTNS-AS1, CTNS NM_004937.3(CTNS):c.561+1del DEL Likely Pathogenic
189067 rs786204667 GRCh37: 17:3559880-3559880
GRCh38: 17:3656586-3656586
32 CTNS-AS1, CTNS NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) SNV Likely Pathogenic
267306 rs550254092 GRCh37: 17:3558567-3558567
GRCh38: 17:3655273-3655273
33 overlap with 2 genes NC_000017.10:g.(?_3539761)_(3566398_?)del DEL Likely Pathogenic
1698538 GRCh37: 17:3539761-3566398
GRCh38:
34 CTNS-AS1, CTNS NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) SNV Likely Pathogenic
1698582 GRCh37: 17:3559973-3559973
GRCh38: 17:3656679-3656679
35 CTNS NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) SNV Likely Pathogenic
1067346 GRCh37: 17:3561456-3561456
GRCh38: 17:3658162-3658162
36 CTNS NM_004937.3(CTNS):c.61_61+2del DEL Likely Pathogenic
852141 rs2075652654 GRCh37: 17:3543559-3543561
GRCh38: 17:3640265-3640267
37 CTNS NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) SNV Uncertain Significance
952419 rs201153770 GRCh37: 17:3550815-3550815
GRCh38: 17:3647521-3647521
38 CTNS NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) SNV Uncertain Significance
648616 rs1314998853 GRCh37: 17:3561450-3561450
GRCh38: 17:3658156-3658156
39 CTNS-AS1, CTNS NM_004937.3(CTNS):c.635C>T (p.Ala212Val) SNV Uncertain Significance
1020638 rs776658046 GRCh37: 17:3560043-3560043
GRCh38: 17:3656749-3656749
40 CTNS NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) SNV Uncertain Significance
322844 rs140326392 GRCh37: 17:3563269-3563269
GRCh38: 17:3659975-3659975
41 CTNS NM_004937.3(CTNS):c.-645C>T SNV Uncertain Significance
990025 rs537110680 GRCh37: 17:3539710-3539710
GRCh38: 17:3636416-3636416
42 CTNS NM_004937.3(CTNS):c.-643G>A SNV Uncertain Significance
990026 rs887657778 GRCh37: 17:3539712-3539712
GRCh38: 17:3636418-3636418
43 CTNS NM_004937.3(CTNS):c.140+3A>G SNV Uncertain Significance
990028 rs778641729 GRCh37: 17:3550819-3550819
GRCh38: 17:3647525-3647525
44 CTNS-AS1, CTNS NM_004937.3(CTNS):c.226G>A (p.Val76Ile) SNV Uncertain Significance
990029 rs1567709217 GRCh37: 17:3558292-3558292
GRCh38: 17:3654998-3654998
45 CTNS-AS1, CTNS NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) SNV Uncertain Significance
889140 rs754433265 GRCh37: 17:3558639-3558639
GRCh38: 17:3655345-3655345
46 CTNS-AS1, CTNS NM_004937.3(CTNS):c.534C>G (p.Ile178Met) SNV Uncertain Significance
990032 rs113967200 GRCh37: 17:3559853-3559853
GRCh38: 17:3656559-3656559
47 CTNS-AS1, CTNS NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe) SNV Uncertain Significance
990033 rs886038378 GRCh37: 17:3559873-3559873
GRCh38: 17:3656579-3656579
48 CTNS-AS1, CTNS NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) SNV Uncertain Significance
990466 rs768600603 GRCh37: 17:3560042-3560042
GRCh38: 17:3656748-3656748
49 CTNS NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) MICROSAT Uncertain Significance
1042415 rs2076255711 GRCh37: 17:3563602-3563604
GRCh38: 17:3660308-3660310
50 CTNS NM_004937.3(CTNS):c.*1046_*1047dup DUP Uncertain Significance
322876 rs772764926 GRCh37: 17:3564708-3564709
GRCh38: 17:3661414-3661415

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

GO Terms for Cystinosis

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

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.76 SQSTM1 RAB27A LRP2 LAMP2 CUBN BECN1
2 late endosome GO:0005770 9.65 SQSTM1 RAB27A LAMP2 DYNC1LI2 CTNS
3 lysosome GO:0005764 9.44 SQSTM1 SLC66A1 RAB27A LRP2 LAMP2 DYNC1LI2

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

# Name GO ID Score Top Affiliating Genes
1 selective autophagy GO:0061912 9.56 SQSTM1 BECN1
2 cobalamin transport GO:0015889 9.46 LRP2 CUBN
3 response to mitochondrial depolarisation GO:0098780 9.26 SQSTM1 BECN1
4 vitamin D metabolic process GO:0042359 9.02 LRP2 GC FGF23

Sources for Cystinosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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