MCID: CYS010
MIFTS: 60

Cystinosis

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

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 74 24 52 25 58 36 29 54 6 43 15 39
Cystine Storage Disease 12 52 25
Protein Defect of Cystin Transport 58
Nephropathic Cystinosis 71
Cystine Diathesis 52
Cystine Disease 52
Cystinoses 52

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Inborn errors of metabolism


Summaries for Cystinosis

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. There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men. The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties. People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.

MalaCards based summary : Cystinosis, also known as cystine storage disease, is related to fanconi syndrome and hyperparathyroidism, 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 Folate Metabolism. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and eye, and related phenotypes are failure to thrive and hypothyroidism

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

NIH Rare Diseases : 52 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.

KEGG : 36 Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.

Wikipedia : 74 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 294)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 32.7 SLC66A1 LRP2 CUBN CTNS ALB
2 hyperparathyroidism 30.2 GC GAST ALB
3 portal hypertension 30.0 SST INS ALB
4 uremia 29.9 LCAT INS ALB
5 nephrolithiasis, calcium oxalate 29.6 LRP2 INS CUBN ALB
6 hyperthyroidism 29.4 SST INS ALB
7 chronic kidney disease 29.2 LCAT INS GC ALB
8 cystinosis, adult nonnephropathic 12.9
9 cystinosis, nephropathic 12.9
10 cystinosis, late-onset juvenile or adolescent nephropathic type 12.8
11 fanconi renotubular syndrome 1 11.6
12 5-oxoprolinase deficiency 11.2
13 autosomal recessive disease 10.7
14 end stage renal failure 10.7
15 lysosomal storage disease 10.6
16 hypothyroidism 10.6
17 rickets 10.5
18 myopathy 10.5
19 kidney disease 10.4
20 fanconi-like syndrome 10.4 LRP2 CUBN
21 cystinuria 10.4
22 renal tubular transport disease 10.4 LRP2 CUBN CTNS
23 renal tubular acidosis 10.3
24 peptic ulcer perforation 10.3 GAST ALB
25 uvulitis 10.3 TRPV1 INS
26 metabolic acidosis 10.3
27 bartter disease 10.3
28 hypokalemia 10.3
29 tropical sprue 10.3 GAST ALB
30 gastritis, familial giant hypertrophic 10.3 GAST ALB
31 congenital intrinsic factor deficiency 10.3 LRP2 CUBN ALB
32 miyoshi muscular dystrophy 10.3
33 aminoaciduria 10.3
34 critical illness polyneuropathy 10.2 INS ALB
35 bone disease 10.2
36 hypogonadism 10.2
37 keratopathy 10.2
38 hypogonadotropism 10.2
39 cerebral atrophy 10.2
40 peptic esophagitis 10.2 TRPV1 GAST ALB
41 familial lcat deficiency 10.2 LCAT ALB
42 corneal deposit 10.2 LCAT CTNS
43 nephrotic syndrome 10.2
44 vitamin metabolic disorder 10.2 GAST CUBN ALB
45 inflammatory and toxic neuropathy 10.2 INS ALB
46 donnai-barrow syndrome 10.2 LRP2 GC CUBN
47 generalized atherosclerosis 10.2 INS ALB
48 sea-blue histiocyte disease 10.2 SLC66A1 LCAT
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 severe nonproliferative diabetic retinopathy 10.2 INS ALB

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
7 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
8 renal tubular dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000124
9 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
10 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
11 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
12 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
13 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
14 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
15 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
16 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
17 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
18 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
19 nephrogenic diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009806
20 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
21 type i diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100651
22 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
23 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
24 rickets 58 31 frequent (33%) Frequent (79-30%) HP:0002748
25 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
26 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
27 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
28 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
29 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
30 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
31 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
32 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
33 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824

UMLS symptoms related to Cystinosis:


photophobia, polydipsia, polyuria

MGI Mouse Phenotypes related to Cystinosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ALB BECN1 CASP4 CTNS CUBN GAST
2 endocrine/exocrine gland MP:0005379 9.91 ALB BECN1 CASP4 GAST GC INS
3 immune system MP:0005387 9.7 ALB BECN1 CASP4 GAST INS LRP2
4 renal/urinary system MP:0005367 9.28 ALB BECN1 CASP4 CTNS CUBN INS

Drugs & Therapeutics for Cystinosis

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
3 Anti-Infective Agents Phase 4
4 Respiratory System Agents Phase 4
5 N-monoacetylcystine Phase 4
6 Antioxidants Phase 4
7 Free Radical Scavengers Phase 4
8 Antiviral Agents Phase 4
9 Protective Agents Phase 4
10 Antidotes Phase 4
11 Expectorants Phase 4
12
Cysteamine Approved, Investigational Phase 3 60-23-1 6058
13
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
14
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
15 Pharmaceutical Solutions Phase 2
16 Ophthalmic Solutions Phase 2
17 Adrenergic Agents Phase 2
18 Sympathomimetics Phase 2
19 Central Nervous System Stimulants Phase 2
20 Neurotransmitter Agents Phase 2
21 Dopamine Uptake Inhibitors Phase 2
22 Autonomic Agents Phase 2
23 Dopamine Agents Phase 2
24 Cardiac Glycosides Phase 2
25
Capsaicin Approved Early Phase 1 404-86-4 1548943
26
Sodium citrate Approved, Investigational 68-04-2
27
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
28 Dermatologic Agents Early Phase 1
29 Antipruritics Early Phase 1
30 Citrate
31 Antidepressive Agents

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine Can Decrease the Progression of Renal Disease in Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 A Randomized, Crossover Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients With Nephropathic Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
3 A Long-Term, Open-Label, Safety, Tolerability and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
4 A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With Cystinosis Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules
5 An Open-Label, Safety and Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naïve Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
6 Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old Not yet recruiting NCT04125927 Phase 3 Mercaptamine
7 A Pilot Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cysteamine Bitartrate (Cystagon®) in Patients With Nephropathic Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
8 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
9 An Open Label Investigation of the Tolerability and Pharmacokinetics of Oral Cysteamine in Adults With Cystic Fibrosis. Completed NCT02212431 Phase 1, Phase 2 Cysteamine
10 A Preliminary Study to Evaluate Cysteamine Therapy in Human Subjects With Non-Alcoholic Steatohepatitis (NASH) Completed NCT00799578 Phase 1, Phase 2 Cysteamine
11 A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations Recruiting NCT04069260 Phase 2 ELX-02
12 Phase 1/2 Study to Determine Safety and Efficacy of Transplantation w/ Autologous Human CD34+ Cells From Mobilized Peripheral Blood Stem Cells of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS Lentiviral Vector Recruiting NCT03897361 Phase 1, Phase 2
13 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
14 Safety and Efficacy Trial of a Proposed NDA Formulation of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
15 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
16 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Cysteamine
17 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
18 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
19 Renal Transplantation in Recipients With Nephropathic Cystinosis Completed NCT00074516
20 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
21 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250
22 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 cysteamine hydrochloride
23 Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy Adults Completed NCT01432561 Cysteamine bitartrate
24 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
25 Salivary Proteomics in Disease and Health Completed NCT00100204
26 A Study of Collateral Disorders of Glycogen Storage Disease Completed NCT00001342
27 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523
28 A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study. Recruiting NCT03919981
29 Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
30 Cure Cystinosis International Registry Recruiting NCT01327807
31 The Effect of Exercise on Muscle Dysfunction in Cystinosis Not yet recruiting NCT04071548
32 An Open-Label Study of Cysteamine Bitartrate in Treatment-Resistant Major Depression Terminated NCT00715559 cysteamine bitartrate

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:

40
Kidney, Bone, Eye, Thyroid, Testes, Pancreas, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 1277)
# Title Authors PMID Year
1
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 54 61 24 6
19863563 2009
2
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. 54 61 24 6
11505338 2001
3
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. 54 61 24 6
10673275 2000
4
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 54 61 24 6
10625078 2000
5
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 54 61 24 6
10556299 1999
6
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 54 61 24 6
10482956 1999
7
CTNS mutations in an American-based population of cystinosis patients. 54 61 24 6
9792862 1998
8
Cystinosis. 61 24 6
12110740 2002
9
Mutations of CTNS causing intermediate cystinosis. 61 24 6
10444339 1999
10
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 61 24 6
9537412 1998
11
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 54 61 6
15365816 2004
12
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 61 6
27734949 2016
13
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. 61 6
18186520 2008
14
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. 54 61 24
17699259 2006
15
Pharmacological treatment of nephropathic cystinosis with cysteamine. 54 61 24
15500372 2004
16
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 54 61 24
12442267 2002
17
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 54 61 24
12204010 2002
18
CTNS mutations in African American patients with cystinosis. 54 61 24
11708862 2001
19
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. 61 6
11565547 2001
20
Cystinosis 61 6
20301574 2001
21
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. 54 61 24
11001803 2000
22
CTNS mutations in patients with cystinosis. 54 61 24
10571941 1999
23
First Successful Conception Induced by a Male Cystinosis Patient. 61 24
28405942 2018
24
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. 61 24
27083281 2016
25
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. 61 24
25526929 2015
26
Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. 61 24
25811383 2015
27
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. 61 24
22554716 2012
28
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. 61 24
21546516 2011
29
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. 61 24
21371554 2011
30
Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. 61 24
21248718 2011
31
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. 61 24
21195649 2011
32
Neurocognitive functioning in school-aged cystinosis patients. 61 24
20814825 2010
33
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. 61 24
20826102 2010
34
Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis. 61 24
20865335 2010
35
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. 61 24
20826575 2010
36
Craniofacial and dental findings in cystinosis. 61 24
20233313 2010
37
Modulation of CTNS gene expression by intracellular thiols. 61 24
20079424 2010
38
Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis. 61 24
20199711 2010
39
Fertility status in male cystinosis patients treated with cysteamine. 61 24
19217094 2010
40
Gastric acid hypersecretory states: recent insights and advances. 61 24
19903418 2009
41
Nephropathic cystinosis: late complications of a multisystemic disease. 61 24
18008091 2008
42
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 61 24
18178779 2008
43
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. 61 24
17709758 2007
44
Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis. 61 24
17471495 2007
45
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. 61 24
17212992 2007
46
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. 61 24
17136701 2006
47
A deeper look into cysteamine absorption for the treatment of cystinosis. 61 24
16769374 2006
48
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. 61 24
16603246 2006
49
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. 61 24
16527704 2006
50
Behavioral profiles of children with infantile nephropathic cystinosis. 61 24
15938069 2005

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNS NM_004937.3(CTNS):c.18_21del (p.Thr7fs)deletion Pathogenic 188834 rs786204501 17:3543516-3543519 17:3640222-3640225
2 CTNS NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)SNV Pathogenic 21440 rs113994208 17:3560021-3560021 17:3656727-3656727
3 CTNS NM_004937.3(CTNS):c.255_256CT[1] (p.Ser86fs)short repeat Pathogenic 253206 rs879255614 17:3558321-3558322 17:3655027-3655028
4 CTNS NM_004937.2:c.661insTinsertion Pathogenic 253207
5 CTNS NM_004937.3(CTNS):c.91dup (p.Val31fs)duplication Pathogenic 253208 rs879255613 17:3550766-3550767 17:3647472-3647473
6 CTNS NM_004937.3(CTNS):c.120del (p.Asn41fs)deletion Pathogenic 253209 rs879255616 17:3550795-3550795 17:3647501-3647501
7 CTNS NM_004937.3(CTNS):c.397A>T (p.Ile133Phe)SNV Pathogenic 267307 rs886040970 17:3558582-3558582 17:3655288-3655288
8 CTNS NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)SNV Pathogenic 267308 rs764168489 17:3559863-3559863 17:3656569-3656569
9 CTNS NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)SNV Pathogenic 267310 rs746307931 17:3563221-3563221 17:3659927-3659927
10 CTNS NM_004937.3(CTNS):c.771_793del (p.Gly258fs)deletion Pathogenic 496276 rs759623796 17:3561376-3561398 17:3658082-3658104
11 CTNS NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)SNV Pathogenic 505009 rs776842972 17:3563169-3563169 17:3659875-3659875
12 CTNS NM_004937.3(CTNS):c.853-2A>GSNV Pathogenic/Likely pathogenic 496277 rs1475322504 17:3563150-3563150 17:3659856-3659856
13 CTNS NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)deletion Pathogenic/Likely pathogenic 21438 rs113994204 17:3552198-3552218 17:3648904-3648924
14 CTNS NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)SNV Pathogenic/Likely pathogenic 267306 rs550254092 17:3558567-3558567 17:3655273-3655273
15 CTNS NM_004937.3(CTNS):c.926dup (p.Ser310fs)duplication Pathogenic/Likely pathogenic 188714 rs786204420 17:3563220-3563221 17:3659926-3659927
16 CTNS NM_004937.3(CTNS):c.323del (p.Gln108fs)deletion Likely pathogenic 253205 rs879255615 17:3558389-3558389 17:3655095-3655095
17 CTNS NM_004937.3(CTNS):c.611_613ACG[1] (p.Asp205del)short repeat Likely pathogenic 188718 rs760256854 17:3560019-3560021 17:3656725-3656727
18 CTNS NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)SNV Likely pathogenic 4458 rs267606754 17:3558601-3558601 17:3655307-3655307
19 CTNS NM_004937.3(CTNS):c.423del (p.Phe142fs)deletion Likely pathogenic 632779 rs1567709909 17:3558607-3558607 17:3655313-3655313
20 CTNS NM_004937.3(CTNS):c.108C>T (p.Asn36=)SNV Conflicting interpretations of pathogenicity 322835 rs117404824 17:3550784-3550784 17:3647490-3647490
21 CTNS NM_004937.3(CTNS):c.363C>T (p.Ser121=)SNV Conflicting interpretations of pathogenicity 322838 rs746463725 17:3558548-3558548 17:3655254-3655254
22 CTNS NM_004937.3(CTNS):c.356G>A (p.Arg119His)SNV Conflicting interpretations of pathogenicity 198524 rs375970075 17:3558541-3558541 17:3655247-3655247
23 CTNS NM_004937.3(CTNS):c.561+4C>TSNV Conflicting interpretations of pathogenicity 257156 rs111256750 17:3559884-3559884 17:3656590-3656590
24 CTNS NM_004937.3(CTNS):c.462-7C>ASNV Conflicting interpretations of pathogenicity 288254 rs189632527 17:3559774-3559774 17:3656480-3656480
25 CTNS NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)SNV Conflicting interpretations of pathogenicity 322836 rs144751390 17:3550792-3550792 17:3647498-3647498
26 CTNS NM_004937.3(CTNS):c.407T>G (p.Val136Gly)SNV Uncertain significance 322839 rs764372178 17:3558592-3558592 17:3655298-3655298
27 CTNS NM_004937.3(CTNS):c.444G>A (p.Met148Ile)SNV Uncertain significance 322840 rs199977728 17:3558629-3558629 17:3655335-3655335
28 CTNS NM_004937.3(CTNS):c.853-15G>ASNV Uncertain significance 322843 rs376050426 17:3563137-3563137 17:3659843-3659843
29 CTNS NM_004937.3(CTNS):c.*55C>GSNV Uncertain significance 322848 rs751680506 17:3563718-3563718 17:3660424-3660424
30 CTNS NM_004937.3(CTNS):c.*129C>TSNV Uncertain significance 322849 rs746209035 17:3563792-3563792 17:3660498-3660498
31 CTNS NM_004937.3(CTNS):c.*431C>TSNV Uncertain significance 322855 rs886052868 17:3564094-3564094 17:3660800-3660800
32 CTNS NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTCindel Uncertain significance 322870 rs886052872 17:3564687-3564693 17:3661393-3661399
33 CTNS NM_004937.3(CTNS):c.*1053T>GSNV Uncertain significance 322877 rs1048677 17:3564716-3564716 17:3661422-3661422
34 CTNS NM_004937.3(CTNS):c.*1176_*1179deldeletion Uncertain significance 322884 rs886052875 17:3564838-3564841 17:3661544-3661547
35 CTNS NM_004937.3(CTNS):c.*1249C>TSNV Uncertain significance 322887 rs886052876 17:3564912-3564912 17:3661618-3661618
36 CTNS NM_004937.3(CTNS):c.*1680G>ASNV Uncertain significance 322900 rs572393960 17:3565343-3565343 17:3662049-3662049
37 CTNS NM_004937.3(CTNS):c.*1874G>ASNV Uncertain significance 322902 rs886052880 17:3565537-3565537 17:3662243-3662243
38 CTNS NM_004937.3(CTNS):c.*1956_*1957deldeletion Uncertain significance 322906 rs397856854 17:3565606-3565607 17:3662312-3662313
39 CTNS NM_004937.3(CTNS):c.*1366C>GSNV Uncertain significance 322889 rs558637146 17:3565029-3565029 17:3661735-3661735
40 CTNS NM_004937.3(CTNS):c.*1383C>TSNV Uncertain significance 322890 rs886052877 17:3565046-3565046 17:3661752-3661752
41 CTNS NM_004937.3(CTNS):c.*1397C>TSNV Uncertain significance 322891 rs886052878 17:3565060-3565060 17:3661766-3661766
42 CTNS NM_004937.3(CTNS):c.*1669C>TSNV Uncertain significance 322899 rs117079843 17:3565332-3565332 17:3662038-3662038
43 CTNS NM_004937.3(CTNS):c.*1899G>ASNV Uncertain significance 322903 rs563849197 17:3565562-3565562 17:3662268-3662268
44 CTNS NM_004937.3(CTNS):c.*2036G>ASNV Uncertain significance 322907 rs184828971 17:3565699-3565699 17:3662405-3662405
45 CTNS NM_004937.3(CTNS):c.*1046_*1047dupduplication Uncertain significance 322876 rs772764926 17:3564708-3564709 17:3661414-3661415
46 CTNS NM_004937.3(CTNS):c.*2477C>GSNV Uncertain significance 322915 rs781672689 17:3566140-3566140 17:3662846-3662846
47 CTNS NM_004937.3(CTNS):c.*2492G>ASNV Uncertain significance 322916 rs886052884 17:3566155-3566155 17:3662861-3662861
48 CTNS NM_004937.3(CTNS):c.*2584C>TSNV Uncertain significance 322921 rs548531950 17:3566247-3566247 17:3662953-3662953
49 CTNS NM_004937.3(CTNS):c.*2662G>ASNV Uncertain significance 322924 rs534360650 17:3566325-3566325 17:3663031-3663031
50 CTNS NM_001031681.2(CTNS):c.-241G>TSNV Uncertain significance 322820 rs886052861 17:3539991-3539991 17:3636697-3636697

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Cystinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 LRP2 INS CUBN ALB
2 11.16 SQSTM1 INS BECN1
3 10.43 SLC66A1 CTNS

GO Terms for Cystinosis

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.7 TMEM147 SQSTM1 LRP2 CUBN CASP4 BECN1
2 extracellular exosome GO:0070062 9.61 TAX1BP3 SQSTM1 RAB27A LRP2 LCAT GC
3 lysosomal membrane GO:0005765 9.56 SLC66A1 LRP2 CUBN CTNS
4 endosome lumen GO:0031904 9.32 LRP2 INS
5 lysosome GO:0005764 9.02 SQSTM1 RAB27A LRP2 CUBN CTNS

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

# Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle remodeling GO:0034375 9.4 LCAT ALB
2 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.37 INS CTNS
3 transport GO:0006810 9.32 GC ALB
4 response to mitochondrial depolarisation GO:0098780 9.26 SQSTM1 BECN1
5 mitophagy GO:0000423 9.16 SQSTM1 BECN1
6 negative regulation of protein oligomerization GO:0032460 8.96 INS ALB
7 vitamin D metabolic process GO:0042359 8.8 LRP2 GC CUBN

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 SST INS GAST
2 drug binding GO:0008144 8.8 LRP2 CUBN ALB

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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