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MCID: CYS010
MIFTS: 54

Cystinosis

Categories: Rare diseases, Metabolic diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cystinosis

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism


Sources

Summaries for Cystinosis

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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 polyuria, polydipsia and photophobia. 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 Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and thyroid, and related phenotypes are renal insufficiency and proteinuria

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
Sources

Related Diseases for Cystinosis

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 33.9 CTNS SHPK TAX1BP3
2 fanconi syndrome 31.2 CTNS CUBN LRP2
3 cystinosis, adult nonnephropathic 12.6
4 cystinosis, late-onset juvenile or adolescent nephropathic type 12.5
5 abderhalden kaufmann lignac syndrome 11.1
6 fanconi renotubular syndrome 1 10.9
7 aging 10.1
8 myopathy 10.1
9 thyroiditis 10.0
10 hypothyroidism 10.0
11 cystinuria 9.9
12 portal hypertension 9.9
13 encephalopathy 9.9
14 diabetes insipidus, nephrogenic, autosomal 9.9
15 diabetes mellitus 9.9
16 renal tubular acidosis 9.9
17 rickets 9.9
18 diabetes insipidus 9.9
19 intracranial hypertension 9.9
20 keratopathy 9.8
21 lysosomal storage disease 9.8
22 inflammatory bowel disease 9.8
23 bone disease 9.8
24 distal muscular dystrophy 9.8
25 papilledema 9.8
26 cerebritis 9.8
27 pancreatitis 9.8
28 kidney disease 9.8
29 fanconi-like syndrome 9.7 CUBN LRP2
30 renal cell carcinoma, nonpapillary 9.6
31 cystic fibrosis 9.6
32 fructose intolerance, hereditary 9.6
33 familial mediterranean fever 9.6
34 myeloma, multiple 9.6
35 myxedema 9.6
36 fabry disease 9.6
37 brittle bone disorder 9.6
38 salla disease 9.6
39 osteogenesis imperfecta, type vi 9.6
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
41 sedoheptulokinase deficiency 9.6
42 bartter disease 9.6
43 cataract 9.6
44 end stage renal failure 9.6
45 glomerulonephritis 9.6
46 hematopoietic stem cell transplantation 9.6
47 hepatitis 9.6
48 hydrocephalus 9.6
49 liver disease 9.6
50 adenoiditis 9.6

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis
Sources

Symptoms & Phenotypes for Cystinosis

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Human phenotypes related to Cystinosis:

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

UMLS symptoms related to Cystinosis:


polyuria, polydipsia, photophobia

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
Sources

Drugs & Therapeutics for Cystinosis

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11 cysteine Nutraceutical Phase 4
12
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
13
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
14 Adrenergic Agents Phase 2,Phase 1
15 Autonomic Agents Phase 2,Phase 1
16 Central Nervous System Stimulants Phase 2,Phase 1
17 Dopamine Agents Phase 2,Phase 1
18 Dopamine Uptake Inhibitors Phase 2,Phase 1
19 Neurotransmitter Agents Phase 2,Phase 1
20 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
21 Ophthalmic Solutions Phase 2,Phase 1,Not Applicable
22 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
23 Pharmaceutical Solutions Phase 2,Not Applicable
24 Tetrahydrozoline Phase 2,Phase 1,Not Applicable
25
Capsaicin Approved Early Phase 1 404-86-4 1548943
26 Antipruritics Early Phase 1
27 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 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
3 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
4 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
5 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)
6 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
7 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
8 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
9 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2 Cysteamine
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 Cystagonâ„¢ 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 Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease Recruiting NCT02837523
24 Cure Cystinosis International Registry Recruiting NCT01327807

Search NIH Clinical Center for Cystinosis

Cochrane evidence based reviews: cystinosis

Sources

Genetic Tests for Cystinosis

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Genetic tests related to Cystinosis:

# Genetic test Affiliating Genes
1 Cystinosis 29
Sources

Anatomical Context for Cystinosis

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MalaCards organs/tissues related to Cystinosis:

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

Publications for Cystinosis

About this section

Articles related to Cystinosis:

(show top 50) (show all 613)
# 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
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
14
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
15
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
16
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
17
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
18
Nephropathic cystinosis: an update. ( 28107209 )
2017
19
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
20
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
21
A short cut diagnostic tool in cystinosis: Bone marrow aspiration. ( 28871612 )
2017
22
Bone Complications of Cystinosis. ( 28343472 )
2017
23
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
24
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
25
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
26
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
27
AJKD Atlas of Renal Pathology: Cystinosis. ( 29169518 )
2017
28
Infantile cystinosis: From dialysis to renal transplantation. ( 28937083 )
2017
29
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
30
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
31
Endocrine Complications of Cystinosis. ( 28343475 )
2017
32
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
33
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. ( 28426870 )
2017
34
Structured Transition Protocol for Children with Cystinosis. ( 28913329 )
2017
35
[Cysteamine ophthalmic hydrogel for the treatment of ocular cystinosis]. ( 29112493 )
2017
36
Effects of long-term cysteamine treatment in patients with cystinosis. ( 29260317 )
2017
37
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
2017
38
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
39
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
40
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
41
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. ( 28638260 )
2017
42
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. ( 28793998 )
2017
43
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. ( 28198397 )
2017
44
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report. ( 28950840 )
2017
45
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
46
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. ( 26812160 )
2016
47
A coordinated transition model for patients with cystinosis: from pediatrics to adult care. ( 27595514 )
2016
48
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. ( 28033491 )
2016
49
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. ( 27858370 )
2016
50
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
Sources

Variations for Cystinosis

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ClinVar genetic disease variations for Cystinosis:

6
(show top 50) (show all 269)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
2 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh38 Chromosome 17, 3655307: 3655307
3 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh37 Chromosome 17, 3560021: 3560021
4 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh38 Chromosome 17, 3656727: 3656727
5 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh37 Chromosome 17, 3543518: 3543521
6 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh38 Chromosome 17, 3640224: 3640227
7 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
8 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh38 Chromosome 17, 3656728: 3656730
9 CTNS NM_004937.2(CTNS): c.356G> A (p.Arg119His) single nucleotide variant Conflicting interpretations of pathogenicity rs375970075 GRCh37 Chromosome 17, 3558541: 3558541
10 CTNS NM_004937.2(CTNS): c.356G> A (p.Arg119His) single nucleotide variant Conflicting interpretations of pathogenicity rs375970075 GRCh38 Chromosome 17, 3655247: 3655247
11 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Pathogenic rs879255615 GRCh37 Chromosome 17, 3558389: 3558389
12 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Pathogenic rs879255615 GRCh38 Chromosome 17, 3655095: 3655095
13 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh38 Chromosome 17, 3655029: 3655030
14 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh37 Chromosome 17, 3558323: 3558324
15 CTNS NM_004937.2: c.661insT insertion Pathogenic
16 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh38 Chromosome 17, 3647473: 3647473
17 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh37 Chromosome 17, 3550767: 3550767
18 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh37 Chromosome 17, 3550796: 3550796
19 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh38 Chromosome 17, 3647502: 3647502
20 CTNS NM_001031681.2(CTNS): c.462T> C (p.Ser154=) single nucleotide variant Benign/Likely benign rs77453839 GRCh37 Chromosome 17, 3559781: 3559781
21 CTNS NM_001031681.2(CTNS): c.462T> C (p.Ser154=) single nucleotide variant Benign/Likely benign rs77453839 GRCh38 Chromosome 17, 3656487: 3656487
22 CTNS NM_001031681.2(CTNS): c.504G> A (p.Thr168=) single nucleotide variant Benign/Likely benign rs1800528 GRCh37 Chromosome 17, 3559823: 3559823
23 CTNS NM_001031681.2(CTNS): c.504G> A (p.Thr168=) single nucleotide variant Benign/Likely benign rs1800528 GRCh38 Chromosome 17, 3656529: 3656529
24 CTNS NM_001031681.2(CTNS): c.561+4C> T single nucleotide variant Uncertain significance rs111256750 GRCh38 Chromosome 17, 3656590: 3656590
25 CTNS NM_001031681.2(CTNS): c.561+4C> T single nucleotide variant Uncertain significance rs111256750 GRCh37 Chromosome 17, 3559884: 3559884
26 CTNS NM_001031681.2(CTNS): c.779C> T (p.Thr260Ile) single nucleotide variant Benign rs161400 GRCh38 Chromosome 17, 3658102: 3658102
27 CTNS NM_001031681.2(CTNS): c.779C> T (p.Thr260Ile) single nucleotide variant Benign rs161400 GRCh37 Chromosome 17, 3561396: 3561396
28 CTNS NM_001031681.2(CTNS): c.970+15G> A single nucleotide variant Benign/Likely benign rs76153698 GRCh37 Chromosome 17, 3563284: 3563284
29 CTNS NM_001031681.2(CTNS): c.970+15G> A single nucleotide variant Benign/Likely benign rs76153698 GRCh38 Chromosome 17, 3659990: 3659990
30 CTNS NM_001031681.2(CTNS): c.1138C> G (p.Pro380Ala) single nucleotide variant Benign rs2873624 GRCh37 Chromosome 17, 3563963: 3563963
31 CTNS NM_001031681.2(CTNS): c.1138C> G (p.Pro380Ala) single nucleotide variant Benign rs2873624 GRCh38 Chromosome 17, 3660669: 3660669
32 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh37 Chromosome 17, 3558567: 3558567
33 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh38 Chromosome 17, 3655273: 3655273
34 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh37 Chromosome 17, 3558582: 3558582
35 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh38 Chromosome 17, 3655288: 3655288
36 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh37 Chromosome 17, 3559863: 3559863
37 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh38 Chromosome 17, 3656569: 3656569
38 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh37 Chromosome 17, 3563221: 3563221
39 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh38 Chromosome 17, 3659927: 3659927
40 CTNS NM_004937.2(CTNS): c.462-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189632527 GRCh37 Chromosome 17, 3559774: 3559774
41 CTNS NM_004937.2(CTNS): c.462-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189632527 GRCh38 Chromosome 17, 3656480: 3656480
42 CTNS NM_004937.2(CTNS): c.-520T> C single nucleotide variant Likely benign rs111977802 GRCh37 Chromosome 17, 3539835: 3539835
43 CTNS NM_004937.2(CTNS): c.-520T> C single nucleotide variant Likely benign rs111977802 GRCh38 Chromosome 17, 3636541: 3636541
44 CTNS NM_004937.2(CTNS): c.-476G> A single nucleotide variant Uncertain significance rs373260107 GRCh38 Chromosome 17, 3636585: 3636585
45 CTNS NM_004937.2(CTNS): c.-476G> A single nucleotide variant Uncertain significance rs373260107 GRCh37 Chromosome 17, 3539879: 3539879
46 CTNS NM_004937.2(CTNS): c.-429T> C single nucleotide variant Uncertain significance rs886052860 GRCh38 Chromosome 17, 3636632: 3636632
47 CTNS NM_004937.2(CTNS): c.-429T> C single nucleotide variant Uncertain significance rs886052860 GRCh37 Chromosome 17, 3539926: 3539926
48 CTNS NM_004937.2(CTNS): c.-313G> A single nucleotide variant Likely benign rs17707869 GRCh38 Chromosome 17, 3636748: 3636748
49 CTNS NM_004937.2(CTNS): c.-313G> A single nucleotide variant Likely benign rs17707869 GRCh37 Chromosome 17, 3540042: 3540042
50 CTNS NM_004937.2(CTNS): c.-136C> A single nucleotide variant Uncertain significance rs886052863 GRCh38 Chromosome 17, 3637200: 3637200
Sources

Expression for Cystinosis

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Search GEO for disease gene expression data for Cystinosis.
Sources

Pathways for Cystinosis

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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
Miscellaneous transport and binding events 66
9.9 CTNS PQLC2
Sources

GO Terms for Cystinosis

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.54 CTNS CUBN LRP2
2 brush border GO:0005903 9.32 CUBN LRP2
3 clathrin-coated pit GO:0005905 9.26 CUBN LRP2
4 endocytic vesicle GO:0030139 9.16 CUBN LRP2
5 brush border membrane GO:0031526 8.96 CUBN LRP2
6 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 excitatory postsynaptic potential GO:0060079 9.32 P2RX5 TRPV1
3 cellular amino acid metabolic process GO:0006520 9.26 CTNS GSS
4 lipoprotein transport GO:0042953 8.96 CUBN LRP2
5 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Molecular functions related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 8.62 CUBN LRP2
Sources

Sources for Cystinosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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