MCID: CYS010
MIFTS: 55

Cystinosis

Categories: Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 77 25 54 26 60 38 30 56 6 45 15 41
Cystine Storage Disease 12 54 26
Protein Defect of Cystin Transport 60
Nephropathic Cystinosis 74
Cystine Diathesis 54
Cystine Disease 54
Cystinoses 54

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Inborn errors of metabolism


Summaries for Cystinosis

NIH Rare Diseases : 54 Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.

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 Miscellaneous transport and binding events. The drugs Acetylcysteine and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and thyroid, and related phenotypes are hypothyroidism and muscle weakness

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 has material basis in mutations in the CTNS gene, located on chromosome 17.

Genetics Home Reference : 26 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.

Wikipedia : 77 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 71)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 34.2 CTNS SHPK TAX1BP3
2 fanconi syndrome 32.1 CTNS CUBN LRP2
3 cystinosis, adult nonnephropathic 12.8
4 cystinosis, late-onset juvenile or adolescent nephropathic type 12.7
5 abderhalden kaufmann lignac syndrome 11.2
6 fanconi renotubular syndrome 1 11.1
7 bartter disease 10.3
8 hypothyroidism 10.3
9 myopathy 10.3
10 cystinuria 10.2
11 renal tubular acidosis 10.1
12 rickets 10.1
13 portal hypertension 10.1
14 encephalopathy 10.1
15 diabetes insipidus, nephrogenic, autosomal 10.1
16 diabetes mellitus 10.1
17 bone disease 10.1
18 diabetes insipidus 10.1
19 intracranial hypertension 10.1
20 dwarfism 10.0
21 keratopathy 10.0
22 lysosomal storage disease 10.0
23 inflammatory bowel disease 10.0
24 miyoshi muscular dystrophy 10.0
25 papilledema 10.0
26 kidney disease 10.0
27 fanconi-like syndrome 9.9 CUBN LRP2
28 dent disease 1 9.9 CUBN LRP2
29 duane retraction syndrome 1 9.8
30 renal cell carcinoma, nonpapillary 9.8
31 cystic fibrosis 9.8
32 fructose intolerance, hereditary 9.8
33 intracranial hypertension, idiopathic 9.8
34 familial mediterranean fever 9.8
35 myeloma, multiple 9.8
36 myxedema 9.8
37 tyrosinosis 9.8
38 fabry disease 9.8
39 brittle bone disorder 9.8
40 salla disease 9.8
41 osteogenesis imperfecta, type vi 9.8
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
43 sedoheptulokinase deficiency 9.8
44 mucopolysaccharidosis-plus syndrome 9.8
45 cataract 9.8
46 end stage renal failure 9.8
47 glomerulonephritis 9.8
48 hydrocephalus 9.8
49 liver disease 9.8
50 mucolipidosis 9.8

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
4 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
7 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
8 renal tubular dysfunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0000124
9 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
10 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
11 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
12 dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001944
13 polydipsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001959
14 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
15 hypophosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002148
16 hypokalemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002900
17 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
18 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
19 nephrogenic diabetes insipidus 60 33 hallmark (90%) Very frequent (99-80%) HP:0009806
20 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
21 type i diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100651
22 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
23 retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000488
24 rickets 60 33 frequent (33%) Frequent (79-30%) HP:0002748
25 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
26 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
27 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
28 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
29 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
30 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
31 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
32 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
33 abnormal pyramidal sign 33 occasional (7.5%) HP:0007256
34 abnormal pyramidal signs 60 Occasional (29-5%)

UMLS symptoms related to Cystinosis:


photophobia, polydipsia, polyuria

MGI Mouse Phenotypes related to Cystinosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 CTNS CUBN LCAT LRP2 TRPV1

Drugs & Therapeutics for Cystinosis

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antioxidants Phase 4
3 Expectorants Phase 4
4 N-monoacetylcystine Phase 4
5 Antidotes Phase 4
6 Antiviral Agents Phase 4
7 Free Radical Scavengers Phase 4
8 Anti-Infective Agents Phase 4
9 cysteine Phase 4
10 Respiratory System Agents Phase 4
11 Protective Agents Phase 4
12
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
13
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
14
Dopamine Approved Phase 2,Phase 1 62-31-7, 51-61-6 681
15 Dopamine Agents Phase 2,Phase 1
16 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
17 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
18 Ophthalmic Solutions Phase 2,Phase 1,Not Applicable
19 Autonomic Agents Phase 2,Phase 1
20 Neurotransmitter Agents Phase 2,Phase 1
21 Sympathomimetics Phase 2,Phase 1
22 Pharmaceutical Solutions Phase 2,Not Applicable
23 Central Nervous System Stimulants Phase 2,Phase 1
24 Adrenergic Agents Phase 2,Phase 1
25 Dopamine Uptake Inhibitors Phase 2,Phase 1
26
Capsaicin Approved Early Phase 1 404-86-4 1548943
27 Antipruritics Early Phase 1
28 Dermatologic Agents Early Phase 1

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
3 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
4 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
5 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules
6 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
7 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
8 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2 Cysteamine
9 Stem Cell Gene Therapy for Cystinosis Not yet recruiting NCT03897361 Phase 1, Phase 2
10 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
11 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
12 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114 Not Applicable
13 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
14 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250 Not Applicable
15 Kidney Transplantation in Patients With Cystinosis Completed NCT00074516
16 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
17 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
18 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 Not Applicable cysteamine hydrochloride
19 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
20 Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™ Completed NCT01432561 Not Applicable Cysteamine bitartrate
21 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Not Applicable Cysteamine
22 Salivary Proteins in Disease and Health Completed NCT00100204
23 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
24 Cure Cystinosis International Registry Recruiting NCT01327807
25 Biomarker for Cystinosis Disease: BioCystinosis Recruiting NCT02837523

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 30

Anatomical Context for Cystinosis

MalaCards organs/tissues related to Cystinosis:

42
Eye, Kidney, Thyroid, Testes, Pancreas, Bone, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 748)
# Title Authors Year
1
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. ( 30554218 )
2019
2
In vivo confocal microscopy and anterior segment optical coherence tomography follow-up of cysteamine treatment in corneal cystinosis. ( 30574930 )
2019
3
A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations? ( 30623245 )
2019
4
Carbon Black Tinted Contact Lenses for Reduction of Photophobia in Cystinosis Patients. ( 30624086 )
2019
5
Hierarchical Processing of Visual Stimuli In Nephropathic Cystinosis. ( 30671973 )
2019
6
Swallowing dysfunction in patients with nephropathic cystinosis. ( 30685240 )
2019
7
The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population. ( 30849045 )
2019
8
Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report. ( 30879586 )
2019
9
Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review. ( 29416314 )
2018
10
Ocular changes in nephropathic cystinosis: The course of the gold-dust. ( 29916124 )
2018
11
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. ( 29594088 )
2018
12
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
13
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
14
Slow progression of renal failure in a child with infantile cystinosis. ( 29446030 )
2018
15
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
16
Potential use of stem cells as a therapy for cystinosis. ( 29789935 )
2018
17
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. ( 29549422 )
2018
18
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. ( 29806776 )
2018
19
Skeletal Consequences of Nephropathic Cystinosis. ( 29905968 )
2018
20
A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis. ( 29411268 )
2018
21
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. ( 30030899 )
2018
22
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation. ( 30214781 )
2018
23
Potential role of stromal collagen in cystine crystallization in cystinosis patients. ( 30218827 )
2018
24
Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum. ( 30242621 )
2018
25
Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China. ( 30246737 )
2018
26
Unrecognized juvenile nephropathic cystinosis. ( 30348293 )
2018
27
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. ( 30413946 )
2018
28
Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis. ( 30450477 )
2018
29
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease. ( 30465592 )
2018
30
The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series. ( 30519924 )
2018
31
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
32
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
33
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
34
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
35
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
36
Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis". ( 28343474 )
2017
37
Nephropathic cystinosis: an update. ( 28107209 )
2017
38
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
39
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
40
A short cut diagnostic tool in cystinosis: Bone marrow aspiration. ( 28871612 )
2017
41
Bone Complications of Cystinosis. ( 28343472 )
2017
42
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
43
Introduction to &amp;quot;Extra-Renal Complications of Cystinosis&amp;quot;. ( 28343469 )
2017
44
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
45
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
46
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
47
AJKD Atlas of Renal Pathology: Cystinosis. ( 29169518 )
2017
48
Infantile cystinosis: From dialysis to renal transplantation. ( 28937083 )
2017
49
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
50
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show top 50) (show all 271)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_004937.2(CTNS): c.*1176_*1179delCTGT deletion Uncertain significance rs886052875 GRCh38 Chromosome 17, 3661545: 3661548
2 CTNS NM_004937.2(CTNS): c.*1176_*1179delCTGT deletion Uncertain significance rs886052875 GRCh37 Chromosome 17, 3564839: 3564842
3 CTNS NM_004937.2(CTNS): c.*1249C> T single nucleotide variant Uncertain significance rs886052876 GRCh38 Chromosome 17, 3661618: 3661618
4 CTNS NM_004937.2(CTNS): c.*1249C> T single nucleotide variant Uncertain significance rs886052876 GRCh37 Chromosome 17, 3564912: 3564912
5 CTNS NM_004937.2(CTNS): c.*1633C> G single nucleotide variant Likely benign rs112032534 GRCh37 Chromosome 17, 3565296: 3565296
6 CTNS NM_004937.2(CTNS): c.*1633C> G single nucleotide variant Likely benign rs112032534 GRCh38 Chromosome 17, 3662002: 3662002
7 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh37 Chromosome 17, 3565343: 3565343
8 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh38 Chromosome 17, 3662049: 3662049
9 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh37 Chromosome 17, 3565537: 3565537
10 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh38 Chromosome 17, 3662243: 3662243
11 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs397856854 GRCh37 Chromosome 17, 3565619: 3565620
12 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs397856854 GRCh38 Chromosome 17, 3662325: 3662326
13 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh37 Chromosome 17, 3565620: 3565620
14 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh38 Chromosome 17, 3662326: 3662326
15 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh38 Chromosome 17, 3662488: 3662488
16 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh37 Chromosome 17, 3565782: 3565782
17 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh38 Chromosome 17, 3662501: 3662501
18 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh37 Chromosome 17, 3565795: 3565795
19 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh38 Chromosome 17, 3662896: 3662896
20 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh37 Chromosome 17, 3566190: 3566190
21 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh38 Chromosome 17, 3663086: 3663086
22 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh37 Chromosome 17, 3566380: 3566380
23 CTNS NM_001031681.2(CTNS): c.870C> G (p.Tyr290Ter) single nucleotide variant Pathogenic rs776842972 GRCh38 Chromosome 17, 3659875: 3659875
24 CTNS NM_001031681.2(CTNS): c.870C> G (p.Tyr290Ter) single nucleotide variant Pathogenic rs776842972 GRCh37 Chromosome 17, 3563169: 3563169
25 CTNS NM_004937.2(CTNS): c.771_793del23 (p.Gly258Serfs) deletion Pathogenic rs759623796 GRCh38 Chromosome 17, 3658094: 3658116
26 CTNS NM_004937.2(CTNS): c.771_793del23 (p.Gly258Serfs) deletion Pathogenic rs759623796 GRCh37 Chromosome 17, 3561388: 3561410
27 CTNS NM_004937.2(CTNS): c.853-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1475322504 GRCh37 Chromosome 17, 3563150: 3563150
28 CTNS NM_004937.2(CTNS): c.853-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1475322504 GRCh38 Chromosome 17, 3659856: 3659856
29 CTNS NM_004937.2(CTNS): c.*2593A> T single nucleotide variant Uncertain significance rs549150113 GRCh37 Chromosome 17, 3566256: 3566256
30 CTNS NM_004937.2(CTNS): c.*2593A> T single nucleotide variant Uncertain significance rs549150113 GRCh38 Chromosome 17, 3662962: 3662962
31 CTNS NM_004937.2(CTNS): c.*2195G> A single nucleotide variant Uncertain significance rs886052883 GRCh37 Chromosome 17, 3565858: 3565858
32 CTNS NM_004937.2(CTNS): c.*2195G> A single nucleotide variant Uncertain significance rs886052883 GRCh38 Chromosome 17, 3662564: 3662564
33 CTNS NM_004937.2(CTNS): c.*2127G> A single nucleotide variant Uncertain significance rs72835828 GRCh37 Chromosome 17, 3565790: 3565790
34 CTNS NM_004937.2(CTNS): c.*2127G> A single nucleotide variant Uncertain significance rs72835828 GRCh38 Chromosome 17, 3662496: 3662496
35 CTNS NM_004937.2(CTNS): c.*2115G> A single nucleotide variant Likely benign rs77196744 GRCh37 Chromosome 17, 3565778: 3565778
36 CTNS NM_004937.2(CTNS): c.*2115G> A single nucleotide variant Likely benign rs77196744 GRCh38 Chromosome 17, 3662484: 3662484
37 CTNS NM_004937.2(CTNS): c.*1957dupA duplication Uncertain significance rs397856854 GRCh37 Chromosome 17, 3565620: 3565620
38 CTNS NM_004937.2(CTNS): c.*1957dupA duplication Uncertain significance rs397856854 GRCh38 Chromosome 17, 3662326: 3662326
39 CTNS NM_004937.2(CTNS): c.*1665A> G single nucleotide variant Likely benign rs112317698 GRCh38 Chromosome 17, 3662034: 3662034
40 CTNS NM_004937.2(CTNS): c.*1665A> G single nucleotide variant Likely benign rs112317698 GRCh37 Chromosome 17, 3565328: 3565328
41 CTNS NM_004937.2(CTNS): c.*1595C> T single nucleotide variant Likely benign rs112299490 GRCh38 Chromosome 17, 3661964: 3661964
42 CTNS NM_004937.2(CTNS): c.*1595C> T single nucleotide variant Likely benign rs112299490 GRCh37 Chromosome 17, 3565258: 3565258
43 CTNS NM_004937.2(CTNS): c.*1578C> G single nucleotide variant Likely benign rs142813435 GRCh38 Chromosome 17, 3661947: 3661947
44 CTNS NM_004937.2(CTNS): c.*1578C> G single nucleotide variant Likely benign rs142813435 GRCh37 Chromosome 17, 3565241: 3565241
45 CTNS NM_004937.2(CTNS): c.*1472G> A single nucleotide variant Uncertain significance rs563539494 GRCh37 Chromosome 17, 3565135: 3565135
46 CTNS NM_004937.2(CTNS): c.*1472G> A single nucleotide variant Uncertain significance rs563539494 GRCh38 Chromosome 17, 3661841: 3661841
47 CTNS NM_004937.2(CTNS): c.*1440A> G single nucleotide variant Benign rs161398 GRCh37 Chromosome 17, 3565103: 3565103
48 CTNS NM_004937.2(CTNS): c.*1440A> G single nucleotide variant Benign rs161398 GRCh38 Chromosome 17, 3661809: 3661809
49 CTNS NM_004937.2(CTNS): c.*1336G> A single nucleotide variant Uncertain significance rs541263497 GRCh37 Chromosome 17, 3564999: 3564999
50 CTNS NM_004937.2(CTNS): c.*1336G> A single nucleotide variant Uncertain significance rs541263497 GRCh38 Chromosome 17, 3661705: 3661705

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Cystinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 CTNS PQLC2

GO Terms for Cystinosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.8 CTNS PQLC2 SQSTM1 TAX1BP3
2 extracellular exosome GO:0070062 9.7 CTNS CUBN LCAT LRP2 RAB27A SQSTM1
3 apical plasma membrane GO:0016324 9.63 CUBN LRP2 RAB27A
4 endosome GO:0005768 9.62 CUBN LRP2 RAB27A SQSTM1
5 brush border GO:0005903 9.51 CUBN LRP2
6 clathrin-coated pit GO:0005905 9.48 CUBN LRP2
7 endocytic vesicle GO:0030139 9.43 CUBN LRP2
8 late endosome GO:0005770 9.43 CTNS RAB27A SQSTM1
9 brush border membrane GO:0031526 9.4 CUBN LRP2
10 lysosomal membrane GO:0005765 9.26 CTNS CUBN LRP2 PQLC2
11 lysosome GO:0005764 9.02 CTNS CUBN LRP2 RAB27A SQSTM1
12 membrane GO:0016020 10.07 CTNS CUBN LCAT LRP2 P2RX5 PQLC2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 CUBN LCAT LRP2 TRPV1
2 lipoprotein transport GO:0042953 8.96 CUBN LRP2
3 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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