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MCID: CYS010
MIFTS: 53

Cystinosis

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

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Inborn errors of metabolism


Sources

Summaries for Cystinosis

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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 is Lysosome. The drugs Acetylcysteine and N-monoacetylcystine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, 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
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 83)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 34.3 CTNS SHPK TAX1BP3
2 fanconi syndrome 32.2 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 11.3
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 mellitus 10.1
16 muscle disorders 10.1
17 bone disease 10.1
18 intracranial hypertension 10.1
19 diaminopentanuria 10.0
20 dwarfism 10.0
21 diabetes insipidus, nephrogenic, autosomal 10.0
22 keratopathy 10.0
23 lysosomal storage disease 10.0
24 inflammatory bowel disease 10.0
25 miyoshi muscular dystrophy 10.0
26 papilledema 10.0
27 kidney disease 10.0
28 diabetes insipidus 10.0
29 fanconi-like syndrome 10.0 CUBN LRP2
30 dent disease 1 9.9 CUBN LRP2
31 duane retraction syndrome 1 9.8
32 renal cell carcinoma, nonpapillary 9.8
33 systemic lupus erythematosus 9.8
34 cystic fibrosis 9.8
35 fructose intolerance, hereditary 9.8
36 intracranial hypertension, idiopathic 9.8
37 familial mediterranean fever 9.8
38 myeloma, multiple 9.8
39 myxedema 9.8
40 glutathione synthetase deficiency 9.8
41 tyrosinosis 9.8
42 fabry disease 9.8
43 aging 9.8
44 pituitary adenoma, prolactin-secreting 9.8
45 yemenite deaf-blind hypopigmentation syndrome 9.8
46 brittle bone disorder 9.8
47 salla disease 9.8
48 osteogenesis imperfecta, type vi 9.8
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
50 sedoheptulokinase deficiency 9.8

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:

60 33 (show all 33)
# 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 abnormal pyramidal sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0007256
28 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
29 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
30 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
31 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
32 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
33 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824

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
Sources

Drugs & Therapeutics for Cystinosis

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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 12035
2 N-monoacetylcystine Phase 4
3 Free Radical Scavengers Phase 4
4 Expectorants Phase 4
5 Antidotes Phase 4
6 Respiratory System Agents Phase 4
7 Antiviral Agents Phase 4
8 Anti-Infective Agents Phase 4
9 cysteine Phase 4
10 Antioxidants 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 Autonomic Agents Phase 2,Phase 1
16 Pharmaceutical Solutions Phase 2,Not Applicable
17 Sympathomimetics Phase 2,Phase 1
18 Dopamine Uptake Inhibitors Phase 2,Phase 1
19 Ophthalmic Solutions Phase 2,Phase 1,Not Applicable
20 Adrenergic Agents Phase 2,Phase 1
21 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
22 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
23 Central Nervous System Stimulants Phase 2,Phase 1
24 Neurotransmitter Agents Phase 2,Phase 1
25 Dopamine Agents Phase 2,Phase 1
26
Capsaicin Approved Early Phase 1 404-86-4 1548943
27
Sodium Citrate Approved, Investigational 68-04-2
28
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
29 Antipruritics Early Phase 1
30 Dermatologic Agents Early Phase 1
31 Citrate

Interventional clinical trials:

(show all 26)
# 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 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 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
24 Cure Cystinosis International Registry Recruiting NCT01327807
25 Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis) Recruiting NCT02837523
26 CYSTEA-BONE Clinical Study Not yet recruiting NCT03919981

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 30
Sources

Anatomical Context for Cystinosis

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MalaCards organs/tissues related to Cystinosis:

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

Publications for Cystinosis

About this section

Articles related to Cystinosis:

(show top 50) (show all 751)
# Title Authors Year
1
Ocular manifestations of intermediate cystinosis: To treat or not to treat? ( 31074291 )
2019
2
Anterior Segment Optical Coherence Tomography of Ocular Cystinosis Confirmed by Electron Microscopy. ( 30976588 )
2019
3
A case of ocular cystinosis associated with two potentially severe CTNS mutations. ( 30957593 )
2019
4
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. ( 30928021 )
2019
5
Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report. ( 30879586 )
2019
6
The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population. ( 30849045 )
2019
7
Swallowing dysfunction in patients with nephropathic cystinosis. ( 30685240 )
2019
8
Hierarchical processing of visual stimuli in nephropathic cystinosis. ( 30671973 )
2019
9
Carbon Black Tinted Contact Lenses for Reduction of Photophobia in Cystinosis Patients. ( 30624086 )
2019
10
A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations? ( 30623245 )
2019
11
In vivo confocal microscopy and anterior segment optical coherence tomography follow-up of cysteamine treatment in corneal cystinosis. ( 30574930 )
2019
12
The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series. ( 30519924 )
2019
13
Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography. ( 31022388 )
2019
14
Effects of long-term cysteamine treatment in patients with cystinosis. ( 29260317 )
2019
15
Potential use of stem cells as a therapy for cystinosis. ( 29789935 )
2019
16
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease. ( 30465592 )
2019
17
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
18
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. ( 30554218 )
2018
19
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
20
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
2018
21
A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis. ( 29411268 )
2018
22
Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review. ( 29416314 )
2018
23
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
24
Slow progression of renal failure in a child with infantile cystinosis. ( 29446030 )
2018
25
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. ( 29549422 )
2018
26
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. ( 29594088 )
2018
27
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. ( 29806776 )
2018
28
Skeletal Consequences of Nephropathic Cystinosis. ( 29905968 )
2018
29
Ocular changes in nephropathic cystinosis: The course of the gold-dust. ( 29916124 )
2018
30
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. ( 30030899 )
2018
31
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation. ( 30214781 )
2018
32
Potential role of stromal collagen in cystine crystallization in cystinosis patients. ( 30218827 )
2018
33
Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum. ( 30242621 )
2018
34
Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China. ( 30246737 )
2018
35
Unrecognized juvenile nephropathic cystinosis. ( 30348293 )
2018
36
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. ( 30413946 )
2018
37
Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis. ( 30450477 )
2018
38
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2017
39
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. ( 27858370 )
2017
40
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2017
41
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
42
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. ( 28033491 )
2017
43
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
44
Nephropathic cystinosis: an update. ( 28107209 )
2017
45
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. ( 28198397 )
2017
46
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
47
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
48
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
49
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
50
Introduction to "Extra-Renal Complications of Cystinosis". ( 28343469 )
2017
Sources

Variations for Cystinosis

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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.124G> A (p.Val42Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35086888 GRCh37 Chromosome 17, 3550800: 3550800
2 CTNS NM_004937.2(CTNS): c.124G> A (p.Val42Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35086888 GRCh38 Chromosome 17, 3647506: 3647506
3 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
4 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh38 Chromosome 17, 3655307: 3655307
5 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh37 Chromosome 17, 3560021: 3560021
6 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh38 Chromosome 17, 3656727: 3656727
7 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh37 Chromosome 17, 3543518: 3543521
8 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh38 Chromosome 17, 3640224: 3640227
9 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
10 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh38 Chromosome 17, 3656728: 3656730
11 CTNS NM_004937.2(CTNS): c.356G> A (p.Arg119His) single nucleotide variant Conflicting interpretations of pathogenicity rs375970075 GRCh37 Chromosome 17, 3558541: 3558541
12 CTNS NM_004937.2(CTNS): c.356G> A (p.Arg119His) single nucleotide variant Conflicting interpretations of pathogenicity rs375970075 GRCh38 Chromosome 17, 3655247: 3655247
13 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Likely pathogenic rs879255615 GRCh37 Chromosome 17, 3558389: 3558389
14 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Likely pathogenic rs879255615 GRCh38 Chromosome 17, 3655095: 3655095
15 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh38 Chromosome 17, 3655029: 3655030
16 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh37 Chromosome 17, 3558323: 3558324
17 CTNS NM_004937.2: c.661insT insertion Pathogenic
18 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh38 Chromosome 17, 3647473: 3647473
19 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh37 Chromosome 17, 3550767: 3550767
20 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh37 Chromosome 17, 3550796: 3550796
21 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh38 Chromosome 17, 3647502: 3647502
22 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh37 Chromosome 17, 3558567: 3558567
23 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh38 Chromosome 17, 3655273: 3655273
24 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh37 Chromosome 17, 3558582: 3558582
25 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh38 Chromosome 17, 3655288: 3655288
26 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh37 Chromosome 17, 3559863: 3559863
27 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh38 Chromosome 17, 3656569: 3656569
28 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh37 Chromosome 17, 3563221: 3563221
29 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh38 Chromosome 17, 3659927: 3659927
30 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh37 Chromosome 17, 3565343: 3565343
31 CTNS NM_004937.2(CTNS): c.*1680G> A single nucleotide variant Uncertain significance rs572393960 GRCh38 Chromosome 17, 3662049: 3662049
32 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh37 Chromosome 17, 3565537: 3565537
33 CTNS NM_004937.2(CTNS): c.*1874G> A single nucleotide variant Uncertain significance rs886052880 GRCh38 Chromosome 17, 3662243: 3662243
34 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs397856854 GRCh37 Chromosome 17, 3565619: 3565620
35 CTNS NM_004937.2(CTNS): c.*1956_*1957delAA deletion Uncertain significance rs397856854 GRCh38 Chromosome 17, 3662325: 3662326
36 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh37 Chromosome 17, 3565620: 3565620
37 CTNS NM_004937.2(CTNS): c.*1957delA deletion Benign rs397856854 GRCh38 Chromosome 17, 3662326: 3662326
38 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh38 Chromosome 17, 3662488: 3662488
39 CTNS NM_004937.2(CTNS): c.*2119G> T single nucleotide variant Uncertain significance rs80249487 GRCh37 Chromosome 17, 3565782: 3565782
40 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh38 Chromosome 17, 3662501: 3662501
41 CTNS NM_004937.2(CTNS): c.*2132G> A single nucleotide variant Uncertain significance rs74485511 GRCh37 Chromosome 17, 3565795: 3565795
42 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh38 Chromosome 17, 3662896: 3662896
43 CTNS NM_004937.2(CTNS): c.*2527G> A single nucleotide variant Uncertain significance rs886052885 GRCh37 Chromosome 17, 3566190: 3566190
44 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh38 Chromosome 17, 3663086: 3663086
45 CTNS NM_004937.2(CTNS): c.*2717A> G single nucleotide variant Uncertain significance rs567476347 GRCh37 Chromosome 17, 3566380: 3566380
46 CTNS NM_004937.2(CTNS): c.*1165C> T single nucleotide variant Likely benign rs112915401 GRCh38 Chromosome 17, 3661534: 3661534
47 CTNS NM_004937.2(CTNS): c.*1165C> T single nucleotide variant Likely benign rs112915401 GRCh37 Chromosome 17, 3564828: 3564828
48 CTNS NM_004937.2(CTNS): c.*1176C> G single nucleotide variant Uncertain significance rs553878990 GRCh38 Chromosome 17, 3661545: 3661545
49 CTNS NM_004937.2(CTNS): c.*1176C> G single nucleotide variant Uncertain significance rs553878990 GRCh37 Chromosome 17, 3564839: 3564839
50 CTNS NM_004937.2(CTNS): c.*1176_*1177delCT deletion Likely benign rs397857879 GRCh38 Chromosome 17, 3661545: 3661546
Sources

Expression for Cystinosis

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Search GEO for disease gene expression data for Cystinosis.
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Pathways for Cystinosis

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Pathways related to Cystinosis according to KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142
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 apical plasma membrane GO:0016324 9.61 CUBN LRP2 RAB27A
2 endosome GO:0005768 9.56 CUBN LRP2 RAB27A SQSTM1
3 lysosomal membrane GO:0005765 9.54 CTNS CUBN LRP2
4 extracellular exosome GO:0070062 9.5 CTNS CUBN LCAT LRP2 RAB27A SQSTM1
5 brush border GO:0005903 9.48 CUBN LRP2
6 clathrin-coated pit GO:0005905 9.46 CUBN LRP2
7 endocytic vesicle GO:0030139 9.4 CUBN LRP2
8 late endosome GO:0005770 9.33 CTNS RAB27A SQSTM1
9 brush border membrane GO:0031526 9.32 CUBN LRP2
10 lysosome GO:0005764 9.02 CTNS CUBN LRP2 RAB27A SQSTM1

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

Sources for Cystinosis

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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
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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