MCID: CYS010
MIFTS: 55

Cystinosis

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

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 75 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 72
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


External Ids:

Disease Ontology 12 DOID:1064
KEGG 37 H00275
MeSH 44 D003554
NCIt 50 C129932
SNOMED-CT 68 62332007
MESH via Orphanet 45 D003554
ICD10 via Orphanet 34 E72.0
UMLS via Orphanet 73 C0010690
Orphanet 59 ORPHA213
UMLS 72 C2931187

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

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.

KEGG : 37
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 : 75 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 221)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 34.5 TAX1BP3 SHPK CTNS
2 fanconi syndrome 32.2 LRP2 CUBN CTNS
3 cystinosis, adult nonnephropathic 12.9
4 cystinosis, late-onset juvenile or adolescent nephropathic type 12.8
5 abderhalden kaufmann lignac syndrome 11.7
6 fanconi renotubular syndrome 1 11.6
7 autosomal recessive disease 10.7
8 end stage renal failure 10.7
9 lysosomal storage disease 10.6
10 hypothyroidism 10.6
11 rickets 10.5
12 myopathy 10.5
13 kidney disease 10.4
14 cystinuria 10.4
15 renal tubular acidosis 10.3
16 bartter disease 10.3
17 chronic kidney disease 10.3
18 metabolic acidosis 10.3
19 hypokalemia 10.3
20 portal hypertension 10.3
21 aminoaciduria 10.3
22 miyoshi muscular dystrophy 10.2
23 bone disease 10.2
24 hypogonadism 10.2
25 hypogonadotropism 10.2
26 cerebral atrophy 10.2
27 nephrotic syndrome 10.2
28 keratopathy 10.2
29 yemenite deaf-blind hypopigmentation syndrome 10.2
30 diabetes insipidus, nephrogenic, autosomal 10.1
31 corneal disease 10.1
32 hyperparathyroidism 10.1
33 papilledema 10.1
34 uremia 10.1
35 inherited metabolic disorder 10.1
36 diabetes mellitus 10.1
37 diabetes insipidus 10.1
38 intracranial hypertension 10.1
39 splenomegaly 10.1
40 encephalopathy 10.1
41 lysosomal disease 10.1
42 atrial standstill 1 10.0
43 systemic lupus erythematosus 10.0
44 renal tubular acidosis, proximal 10.0
45 ocular motor apraxia 10.0
46 hypophosphatemic rickets, x-linked recessive 10.0
47 salla disease 10.0
48 hydrocephalus 10.0
49 pancytopenia 10.0
50 renal osteodystrophy 10.0

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

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 32)
# 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 Respiratory System Agents Phase 4
4 Antidotes Phase 4
5 Free Radical Scavengers Phase 4
6 Anti-Infective Agents Phase 4
7 Antioxidants Phase 4
8 cysteine Phase 4
9 Protective Agents Phase 4
10 Expectorants Phase 4
11 Antiviral Agents Phase 4
12
Cysteamine Approved, Investigational Phase 1, Phase 2 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 Ophthalmic Solutions Phase 2
16 Pharmaceutical Solutions Phase 2
17 Sympathomimetics Phase 2
18 Central Nervous System Stimulants Phase 2
19 Adrenergic Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Peripheral Nervous System Agents Phase 2
22 Neurotransmitter Uptake Inhibitors Phase 2
23 Dopamine Uptake Inhibitors Phase 2
24 Autonomic Agents Phase 2
25 Dopamine Agents Phase 2
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 Dermatologic Agents Early Phase 1
30 Antipruritics Early Phase 1
31 Citrate
32 Antidepressive Agents

Interventional clinical trials:

(show all 29)
# 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 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
7 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
8 An Open Label Investigation of the Tolerability and Pharmacokinetics of Oral Cysteamine in Adults With Cystic Fibrosis. Completed NCT02212431 Phase 1, Phase 2 Cysteamine
9 A Preliminary Study to Evaluate Cysteamine Therapy in Human Subjects With Non-Alcoholic Steatohepatitis (NASH) Completed NCT00799578 Phase 1, Phase 2 Cysteamine
10 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 Not yet recruiting NCT03897361 Phase 1, Phase 2
11 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
12 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
13 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
14 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Cysteamine
15 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
16 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
17 Renal Transplantation in Recipients With Nephropathic Cystinosis Completed NCT00074516
18 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
19 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250
20 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 cysteamine hydrochloride
21 Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy Adults Completed NCT01432561 Cysteamine bitartrate
22 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
23 Salivary Proteomics in Disease and Health Completed NCT00100204
24 A Study of Collateral Disorders of Glycogen Storage Disease Completed NCT00001342
25 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523
26 A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study. Recruiting NCT03919981
27 Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684
28 Cure Cystinosis International Registry Recruiting NCT01327807
29 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:

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

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 1253)
# Title Authors PMID Year
1
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 9 38 4 71
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. 9 38 4 71
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. 9 38 4 71
10673275 2000
4
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 9 38 4 71
10625078 2000
5
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 9 38 4 71
10556299 1999
6
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 9 38 4 71
10482956 1999
7
CTNS mutations in an American-based population of cystinosis patients. 9 38 4 71
9792862 1998
8
Cystinosis. 38 4 71
12110740 2002
9
Mutations of CTNS causing intermediate cystinosis. 38 4 71
10444339 1999
10
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 38 4 71
9537412 1998
11
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 9 38 71
15365816 2004
12
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 38 71
27734949 2016
13
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. 38 71
18186520 2008
14
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. 9 38 4
17699259 2006
15
Pharmacological treatment of nephropathic cystinosis with cysteamine. 9 38 4
15500372 2004
16
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 9 38 4
12442267 2002
17
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 9 38 4
12204010 2002
18
CTNS mutations in African American patients with cystinosis. 9 38 4
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. 38 71
11565547 2001
20
Cystinosis 38 71
20301574 2001
21
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. 9 38 4
11001803 2000
22
CTNS mutations in patients with cystinosis. 9 38 4
10571941 1999
23
First Successful Conception Induced by a Male Cystinosis Patient. 38 4
28405942 2018
24
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. 38 4
27083281 2016
25
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. 38 4
25526929 2015
26
Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin. 38 4
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. 38 4
22554716 2012
28
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. 38 4
21546516 2011
29
Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. 38 4
21248718 2011
30
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. 38 4
21371554 2011
31
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. 38 4
21195649 2011
32
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. 38 4
20826102 2010
33
Neurocognitive functioning in school-aged cystinosis patients. 38 4
20814825 2010
34
Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis. 38 4
20865335 2010
35
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. 38 4
20826575 2010
36
Craniofacial and dental findings in cystinosis. 38 4
20233313 2010
37
Fertility status in male cystinosis patients treated with cysteamine. 38 4
19217094 2010
38
Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis. 38 4
20199711 2010
39
Modulation of CTNS gene expression by intracellular thiols. 38 4
20079424 2010
40
Gastric acid hypersecretory states: recent insights and advances. 38 4
19903418 2009
41
Nephropathic cystinosis: late complications of a multisystemic disease. 38 4
18008091 2008
42
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 38 4
18178779 2008
43
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. 38 4
17709758 2007
44
Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis. 38 4
17471495 2007
45
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. 38 4
17212992 2007
46
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. 38 4
17136701 2006
47
A deeper look into cysteamine absorption for the treatment of cystinosis. 38 4
16769374 2006
48
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. 38 4
16603246 2006
49
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. 38 4
16527704 2006
50
Behavioral profiles of children with infantile nephropathic cystinosis. 38 4
15938069 2005

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTNS NM_001031681.2(CTNS): c.771_793del (p.Gly258fs) deletion Pathogenic rs759623796 17:3561388-3561410 17:3658094-3658116
2 CTNS NM_001031681.2(CTNS): c.870C> G (p.Tyr290Ter) single nucleotide variant Pathogenic rs776842972 17:3563169-3563169 17:3659875-3659875
3 CTNS NM_001031681.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 17:3560021-3560021 17:3656727-3656727
4 CTNS NM_001031681.2(CTNS): c.18_21del (p.Thr7fs) deletion Pathogenic rs786204501 17:3543518-3543521 17:3640224-3640227
5 CTNS NM_001031681.2(CTNS): c.255_256CT[1] (p.Ser86fs) short repeat Pathogenic rs879255614 17:3558323-3558324 17:3655029-3655030
6 CTNS NM_004937.2: c.661insT insertion Pathogenic
7 CTNS NM_001031681.2(CTNS): c.91dup (p.Val31fs) duplication Pathogenic rs879255613 17:3550767-3550767 17:3647473-3647473
8 CTNS NM_001031681.2(CTNS): c.120del (p.Asn41fs) deletion Pathogenic rs879255616 17:3550796-3550796 17:3647502-3647502
9 CTNS NM_001031681.2(CTNS): c.397A> T (p.Ile133Phe) single nucleotide variant Pathogenic rs886040970 17:3558582-3558582 17:3655288-3655288
10 CTNS NM_001031681.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 17:3559863-3559863 17:3656569-3656569
11 CTNS NM_001031681.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 17:3563221-3563221 17:3659927-3659927
12 CTNS NM_001031681.2(CTNS): c.926dup (p.Ser310fs) duplication Pathogenic/Likely pathogenic rs786204420 17:3563225-3563225 17:3659931-3659931
13 CTNS NM_001031681.2(CTNS): c.198_218del (p.Ile67_Pro73del) deletion Pathogenic/Likely pathogenic rs113994204 17:3552198-3552218 17:3648904-3648924
14 CTNS NM_001031681.2(CTNS): c.853-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1475322504 17:3563150-3563150 17:3659856-3659856
15 CTNS NM_001031681.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 17:3558601-3558601 17:3655307-3655307
16 CTNS NM_001031681.2(CTNS): c.611_613ACG[1] (p.Asp205del) short repeat Likely pathogenic rs760256854 17:3560022-3560024 17:3656728-3656730
17 CTNS NM_001031681.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs550254092 17:3558567-3558567 17:3655273-3655273
18 CTNS NM_001031681.2(CTNS): c.323del (p.Gln108fs) deletion Likely pathogenic rs879255615 17:3558389-3558389 17:3655095-3655095
19 CTNS NM_001031681.2(CTNS): c.423del (p.Phe142fs) deletion Likely pathogenic 17:3558608-3558608 17:3655314-3655314
20 CTNS NM_001031681.2(CTNS): c.356G> A (p.Arg119His) single nucleotide variant Conflicting interpretations of pathogenicity rs375970075 17:3558541-3558541 17:3655247-3655247
21 CTNS NM_001031681.2(CTNS): c.462-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189632527 17:3559774-3559774 17:3656480-3656480
22 CTNS NM_001031681.2(CTNS): c.561+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111256750 17:3559884-3559884 17:3656590-3656590
23 CTNS NM_001031681.2(CTNS): c.108C> T (p.Asn36=) single nucleotide variant Conflicting interpretations of pathogenicity rs117404824 17:3550784-3550784 17:3647490-3647490
24 CTNS NM_001031681.2(CTNS): c.363C> T (p.Ser121=) single nucleotide variant Uncertain significance rs746463725 17:3558548-3558548 17:3655254-3655254
25 CTNS NM_001031681.2(CTNS): c.694C> T (p.Arg232Cys) single nucleotide variant Uncertain significance rs138823792 17:3561311-3561311 17:3658017-3658017
26 CTNS NM_001031681.2(CTNS): c.695G> A (p.Arg232His) single nucleotide variant Uncertain significance rs142641674 17:3561312-3561312 17:3658018-3658018
27 CTNS NM_001031681.2(CTNS): c.1008T> G (p.Phe336Leu) single nucleotide variant Uncertain significance rs762561354 17:3563567-3563567 17:3660273-3660273
28 CTNS NM_001031681.2(CTNS): c.1085+35T> C single nucleotide variant Uncertain significance rs201198798 17:3563679-3563679 17:3660385-3660385
29 CTNS NM_001031681.2(CTNS): c.1118G> A (p.Arg373His) single nucleotide variant Uncertain significance rs200771636 17:3563943-3563943 17:3660649-3660649
30 CTNS NM_004937.2(CTNS): c.-497C> T single nucleotide variant Uncertain significance rs530371788 17:3539858-3539858 17:3636564-3636564
31 CTNS NM_001031681.2(CTNS): c.-47A> C single nucleotide variant Uncertain significance rs886052865 17:3540583-3540583 17:3637289-3637289
32 CTNS NM_001031681.2(CTNS): c.-23_-22AG[1] short repeat Uncertain significance rs550436044 17:3540609-3540610 17:3637315-3637316
33 CTNS NM_001031681.2(CTNS): c.*506G> C single nucleotide variant Uncertain significance rs886052871 17:3564534-3564534 17:3661240-3661240
34 CTNS NM_001031681.2(CTNS): c.*682dup duplication Uncertain significance rs772764926 17:3564710-3564710 17:3661416-3661416
35 CTNS NM_001031681.2(CTNS): c.*811C> G single nucleotide variant Uncertain significance rs553878990 17:3564839-3564839 17:3661545-3661545
36 CTNS NM_001031681.2(CTNS): c.*1762G> A single nucleotide variant Uncertain significance rs72835828 17:3565790-3565790 17:3662496-3662496
37 CTNS NM_001031681.2(CTNS): c.*1830G> A single nucleotide variant Uncertain significance rs886052883 17:3565858-3565858 17:3662564-3662564
38 CTNS NM_001031681.2(CTNS): c.*2228A> T single nucleotide variant Uncertain significance rs549150113 17:3566256-3566256 17:3662962-3662962
39 CTNS NM_001031681.2(CTNS): c.*1107G> A single nucleotide variant Uncertain significance rs563539494 17:3565135-3565135 17:3661841-3661841
40 CTNS NM_001031681.2(CTNS): c.*971G> A single nucleotide variant Uncertain significance rs541263497 17:3564999-3564999 17:3661705-3661705
41 CTNS NM_001031681.2(CTNS): c.*1592dup duplication Uncertain significance rs397856854 17:3565620-3565620 17:3662326-3662326
42 CTNS NM_004937.2(CTNS): c.-476G> A single nucleotide variant Uncertain significance rs373260107 17:3539879-3539879 17:3636585-3636585
43 CTNS NM_004937.2(CTNS): c.-429T> C single nucleotide variant Uncertain significance rs886052860 17:3539926-3539926 17:3636632-3636632
44 CTNS NM_001031681.2(CTNS): c.-136C> A single nucleotide variant Uncertain significance rs886052863 17:3540494-3540494 17:3637200-3637200
45 CTNS NM_001031681.2(CTNS): c.-20+13T> C single nucleotide variant Uncertain significance rs780032861 17:3540623-3540623 17:3637329-3637329
46 CTNS NM_001031681.2(CTNS): c.332C> T (p.Pro111Leu) single nucleotide variant Uncertain significance rs149689304 17:3558517-3558517 17:3655223-3655223
47 CTNS NM_001031681.2(CTNS): c.1083G> A (p.Pro361=) single nucleotide variant Uncertain significance rs371189196 17:3563642-3563642 17:3660348-3660348
48 CTNS NM_001031681.2(CTNS): c.*212T> C single nucleotide variant Uncertain significance rs886052869 17:3564240-3564240 17:3660946-3660946
49 CTNS NM_001031681.2(CTNS): c.*482C> T single nucleotide variant Uncertain significance rs146131305 17:3564510-3564510 17:3661216-3661216
50 CTNS NM_001031681.2(CTNS): c.*577C> T single nucleotide variant Uncertain significance rs140127855 17:3564605-3564605 17:3661311-3661311

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

GO Terms for Cystinosis

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 RAB27A LRP2 CUBN
2 endosome GO:0005768 9.56 SQSTM1 RAB27A LRP2 CUBN
3 lysosomal membrane GO:0005765 9.54 LRP2 CUBN CTNS
4 extracellular exosome GO:0070062 9.5 TAX1BP3 SQSTM1 RAB27A LRP2 LCAT CUBN
5 brush border GO:0005903 9.48 LRP2 CUBN
6 clathrin-coated pit GO:0005905 9.46 LRP2 CUBN
7 endocytic vesicle GO:0030139 9.4 LRP2 CUBN
8 late endosome GO:0005770 9.33 SQSTM1 RAB27A CTNS
9 brush border membrane GO:0031526 9.32 LRP2 CUBN
10 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 lipid metabolic process GO:0006629 9.46 TRPV1 LRP2 LCAT CUBN
2 lipoprotein transport GO:0042953 8.65 CUBN
3 vitamin D metabolic process GO:0042359 8.62 LRP2 CUBN

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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