MCID: CYS010
MIFTS: 55

Cystinosis

Categories: Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 76 24 53 25 59 37 29 55 6 44 15 40
Cystine Storage Disease 12 53 25
Protein Defect of Cystin Transport 59
Nephropathic Cystinosis 73
Cystine Diathesis 53
Cystine Disease 53
Cystinoses 53

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Inborn errors of metabolism


Summaries for Cystinosis

NIH Rare Diseases : 53 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 Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid, and related phenotypes are hypothyroidism and gait disturbance

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 : 25 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 : 76 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 67)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 34.2 TAX1BP3 SHPK CTNS
2 fanconi syndrome 32.2 LRP2 CUBN CTNS
3 cystinosis, adult nonnephropathic 12.8
4 cystinosis, late-onset juvenile or adolescent nephropathic type 12.7
5 fanconi renotubular syndrome 1 11.1
6 bartter disease 10.3
7 hypothyroidism 10.2
8 myopathy 10.2
9 cystinuria 10.2
10 renal tubular acidosis 10.1
11 rickets 10.1
12 portal hypertension 10.1
13 encephalopathy 10.1
14 diabetes insipidus, nephrogenic, autosomal 10.0
15 diabetes mellitus 10.0
16 bone disease 10.0
17 diabetes insipidus 10.0
18 intracranial hypertension 10.0
19 dwarfism 10.0
20 keratopathy 10.0
21 lysosomal storage disease 10.0
22 inflammatory bowel disease 10.0
23 miyoshi muscular dystrophy 10.0
24 papilledema 10.0
25 kidney disease 10.0
26 fanconi-like syndrome 9.9 LRP2 CUBN
27 dent disease 1 9.9 LRP2 CUBN
28 donnai-barrow syndrome 9.8 LRP2 CUBN
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 cataract 9.8
45 end stage renal failure 9.8
46 glomerulonephritis 9.8
47 hydrocephalus 9.8
48 liver disease 9.8
49 recurrent corneal erosion 9.8
50 pancytopenia 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:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
6 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
7 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
8 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
11 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
12 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
13 renal tubular dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000124
14 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
15 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
16 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
17 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
18 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
19 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
20 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
21 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
22 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
23 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
24 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
25 rickets 59 32 frequent (33%) Frequent (79-30%) HP:0002748
26 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
27 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
28 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
29 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
30 nephrogenic diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0009806
31 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
32 type i diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100651
33 abnormal pyramidal signs 59 Occasional (29-5%)
34 abnormal pyramidal sign 32 occasional (7.5%) HP:0007256

UMLS symptoms related to Cystinosis:


photophobia, polydipsia, polyuria

MGI Mouse Phenotypes related to Cystinosis:

46
# 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 Antiviral Agents Phase 4
3 Anti-Infective Agents Phase 4
4 Free Radical Scavengers Phase 4
5 Antioxidants Phase 4
6 Expectorants Phase 4
7 Respiratory System Agents Phase 4
8 Antidotes Phase 4
9 cysteine Phase 4
10 N-monoacetylcystine Phase 4
11 Protective Agents Phase 4
12
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
13
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
14
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
15 Sympathomimetics Phase 2,Phase 1
16 Autonomic Agents Phase 2,Phase 1
17 Dopamine Agents Phase 2,Phase 1
18 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
19 Central Nervous System Stimulants Phase 2,Phase 1
20 Pharmaceutical Solutions Phase 2,Not Applicable
21 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
22 Neurotransmitter Agents Phase 2,Phase 1
23 Ophthalmic Solutions Phase 2,Phase 1,Not Applicable
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 24)
# 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 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
10 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
11 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114 Not Applicable
12 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
13 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250 Not Applicable
14 Kidney Transplantation in Patients With Cystinosis Completed NCT00074516
15 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
16 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
17 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 Not Applicable cysteamine hydrochloride
18 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
19 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
20 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Not Applicable Cysteamine
21 Salivary Proteins in Disease and Health Completed NCT00100204
22 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
23 Cure Cystinosis International Registry Recruiting NCT01327807
24 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 29

Anatomical Context for Cystinosis

MalaCards organs/tissues related to Cystinosis:

41
Kidney, Eye, Thyroid, Testes, Bone, Pancreas, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 741)
# Title Authors Year
1
Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review. ( 29416314 )
2018
2
Ocular changes in nephropathic cystinosis: The course of the gold-dust. ( 29916124 )
2018
3
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. ( 29594088 )
2018
4
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
5
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
6
Slow progression of renal failure in a child with infantile cystinosis. ( 29446030 )
2018
7
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
8
Potential use of stem cells as a therapy for cystinosis. ( 29789935 )
2018
9
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. ( 29549422 )
2018
10
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. ( 29806776 )
2018
11
Skeletal Consequences of Nephropathic Cystinosis. ( 29905968 )
2018
12
A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis. ( 29411268 )
2018
13
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. ( 30030899 )
2018
14
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation. ( 30214781 )
2018
15
Potential role of stromal collagen in cystine crystallization in cystinosis patients. ( 30218827 )
2018
16
Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum. ( 30242621 )
2018
17
Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China. ( 30246737 )
2018
18
Unrecognized juvenile nephropathic cystinosis. ( 30348293 )
2018
19
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. ( 30413946 )
2018
20
Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis. ( 30450477 )
2018
21
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease. ( 30465592 )
2018
22
The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series. ( 30519924 )
2018
23
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. ( 30554218 )
2018
24
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
25
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
26
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
27
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
28
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
29
Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis". ( 28343474 )
2017
30
Nephropathic cystinosis: an update. ( 28107209 )
2017
31
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
32
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
33
A short cut diagnostic tool in cystinosis: Bone marrow aspiration. ( 28871612 )
2017
34
Bone Complications of Cystinosis. ( 28343472 )
2017
35
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
36
Introduction to &amp;quot;Extra-Renal Complications of Cystinosis&amp;quot;. ( 28343469 )
2017
37
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
38
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
39
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
40
AJKD Atlas of Renal Pathology: Cystinosis. ( 29169518 )
2017
41
Infantile cystinosis: From dialysis to renal transplantation. ( 28937083 )
2017
42
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
43
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
44
Endocrine Complications of Cystinosis. ( 28343475 )
2017
45
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
46
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. ( 28426870 )
2017
47
Structured Transition Protocol for Children with Cystinosis. ( 28913329 )
2017
48
[Cysteamine ophthalmic hydrogel for the treatment of ocular cystinosis]. ( 29112493 )
2017
49
Effects of long-term cysteamine treatment in patients with cystinosis. ( 29260317 )
2017
50
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
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.*527G> A single nucleotide variant Likely benign rs79668190 GRCh37 Chromosome 17, 3564190: 3564190
2 CTNS NM_004937.2(CTNS): c.*527G> A single nucleotide variant Likely benign rs79668190 GRCh38 Chromosome 17, 3660896: 3660896
3 CTNS NM_004937.2(CTNS): c.*631T> C single nucleotide variant Likely benign rs1048648 GRCh38 Chromosome 17, 3661000: 3661000
4 CTNS NM_004937.2(CTNS): c.*631T> C single nucleotide variant Likely benign rs1048648 GRCh37 Chromosome 17, 3564294: 3564294
5 CTNS NM_004937.2(CTNS): c.*1024_*1030delCAAAGCTinsTGAAGCTGTC indel Uncertain significance rs886052872 GRCh38 Chromosome 17, 3661393: 3661399
6 CTNS NM_004937.2(CTNS): c.*1024_*1030delCAAAGCTinsTGAAGCTGTC indel Uncertain significance rs886052872 GRCh37 Chromosome 17, 3564687: 3564693
7 CTNS NM_004937.2(CTNS): c.*1053T> G single nucleotide variant Uncertain significance rs1048677 GRCh38 Chromosome 17, 3661422: 3661422
8 CTNS NM_004937.2(CTNS): c.*1053T> G single nucleotide variant Uncertain significance rs1048677 GRCh37 Chromosome 17, 3564716: 3564716
9 CTNS NM_004937.2(CTNS): c.*1152A> G single nucleotide variant Likely benign rs2235104 GRCh38 Chromosome 17, 3661521: 3661521
10 CTNS NM_004937.2(CTNS): c.*1152A> G single nucleotide variant Likely benign rs2235104 GRCh37 Chromosome 17, 3564815: 3564815
11 CTNS NM_004937.2(CTNS): c.*1176_*1179delCTGT deletion Uncertain significance rs886052875 GRCh38 Chromosome 17, 3661545: 3661548
12 CTNS NM_004937.2(CTNS): c.*1176_*1179delCTGT deletion Uncertain significance rs886052875 GRCh37 Chromosome 17, 3564839: 3564842
13 CTNS NM_004937.2(CTNS): c.*1249C> T single nucleotide variant Uncertain significance rs886052876 GRCh38 Chromosome 17, 3661618: 3661618
14 CTNS NM_004937.2(CTNS): c.*1249C> T single nucleotide variant Uncertain significance rs886052876 GRCh37 Chromosome 17, 3564912: 3564912
15 CTNS NM_004937.2(CTNS): c.*1633C> G single nucleotide variant Likely benign rs112032534 GRCh37 Chromosome 17, 3565296: 3565296
16 CTNS NM_004937.2(CTNS): c.*1633C> G single nucleotide variant Likely benign rs112032534 GRCh38 Chromosome 17, 3662002: 3662002
17 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh37 Chromosome 17, 3565343: 3565343
18 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh38 Chromosome 17, 3662049: 3662049
19 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh37 Chromosome 17, 3565537: 3565537
20 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh38 Chromosome 17, 3662243: 3662243
21 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs886052882 GRCh37 Chromosome 17, 3565619: 3565620
22 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs886052882 GRCh38 Chromosome 17, 3662325: 3662326
23 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh37 Chromosome 17, 3565620: 3565620
24 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh38 Chromosome 17, 3662326: 3662326
25 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh38 Chromosome 17, 3662488: 3662488
26 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh37 Chromosome 17, 3565782: 3565782
27 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh38 Chromosome 17, 3662501: 3662501
28 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh37 Chromosome 17, 3565795: 3565795
29 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh38 Chromosome 17, 3662896: 3662896
30 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh37 Chromosome 17, 3566190: 3566190
31 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh38 Chromosome 17, 3663086: 3663086
32 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh37 Chromosome 17, 3566380: 3566380
33 CTNS NM_004937.2(CTNS): c.*431C> T single nucleotide variant Uncertain significance rs886052868 GRCh38 Chromosome 17, 3660800: 3660800
34 CTNS NM_004937.2(CTNS): c.*431C> T single nucleotide variant Uncertain significance rs886052868 GRCh37 Chromosome 17, 3564094: 3564094
35 CTNS NM_004937.2(CTNS): c.*129C> T single nucleotide variant Uncertain significance rs746209035 GRCh37 Chromosome 17, 3563792: 3563792
36 CTNS NM_004937.2(CTNS): c.*129C> T single nucleotide variant Uncertain significance rs746209035 GRCh38 Chromosome 17, 3660498: 3660498
37 CTNS NM_004937.2(CTNS): c.*55C> G single nucleotide variant Uncertain significance rs751680506 GRCh37 Chromosome 17, 3563718: 3563718
38 CTNS NM_004937.2(CTNS): c.*55C> G single nucleotide variant Uncertain significance rs751680506 GRCh38 Chromosome 17, 3660424: 3660424
39 CTNS NM_004937.2(CTNS): c.853-15G> A single nucleotide variant Uncertain significance rs376050426 GRCh37 Chromosome 17, 3563137: 3563137
40 CTNS NM_004937.2(CTNS): c.853-15G> A single nucleotide variant Uncertain significance rs376050426 GRCh38 Chromosome 17, 3659843: 3659843
41 CTNS NM_004937.2(CTNS): c.444G> A (p.Met148Ile) single nucleotide variant Uncertain significance rs199977728 GRCh37 Chromosome 17, 3558629: 3558629
42 CTNS NM_004937.2(CTNS): c.444G> A (p.Met148Ile) single nucleotide variant Uncertain significance rs199977728 GRCh38 Chromosome 17, 3655335: 3655335
43 CTNS NM_004937.2(CTNS): c.407T> G (p.Val136Gly) single nucleotide variant Uncertain significance rs764372178 GRCh37 Chromosome 17, 3558592: 3558592
44 CTNS NM_004937.2(CTNS): c.407T> G (p.Val136Gly) single nucleotide variant Uncertain significance rs764372178 GRCh38 Chromosome 17, 3655298: 3655298
45 CTNS NM_004937.2(CTNS): c.116C> T (p.Ser39Leu) single nucleotide variant Uncertain significance rs144751390 GRCh37 Chromosome 17, 3550792: 3550792
46 CTNS NM_004937.2(CTNS): c.116C> T (p.Ser39Leu) single nucleotide variant Uncertain significance rs144751390 GRCh38 Chromosome 17, 3647498: 3647498
47 CTNS NM_004937.2(CTNS): c.462-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189632527 GRCh38 Chromosome 17, 3656480: 3656480
48 CTNS NM_004937.2(CTNS): c.462-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189632527 GRCh37 Chromosome 17, 3559774: 3559774
49 CTNS NM_001031681.2(CTNS): c.1138C> G (p.Pro380Ala) single nucleotide variant Benign rs2873624 GRCh37 Chromosome 17, 3563963: 3563963
50 CTNS NM_001031681.2(CTNS): c.970+15G> A single nucleotide variant Benign/Likely benign rs76153698 GRCh38 Chromosome 17, 3659990: 3659990

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to KEGG:

37
# 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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 CTNS CUBN LCAT LRP2 P2RX5 PQLC2
2 apical plasma membrane GO:0016324 9.58 CUBN LRP2 RAB27A
3 extracellular exosome GO:0070062 9.5 CTNS CUBN GSS LCAT LRP2 RAB27A
4 brush border GO:0005903 9.46 CUBN LRP2
5 lysosome GO:0005764 9.46 CTNS CUBN LRP2 RAB27A
6 clathrin-coated pit GO:0005905 9.43 CUBN LRP2
7 endocytic vesicle GO:0030139 9.37 CUBN LRP2
8 brush border membrane GO:0031526 9.32 CUBN LRP2
9 lysosomal membrane GO:0005765 8.92 CTNS CUBN LRP2 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 cellular amino acid metabolic process GO:0006520 9.26 CTNS GSS
3 lipoprotein transport GO:0042953 8.96 CUBN LRP2
4 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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