MCID: CYS010
MIFTS: 53

Cystinosis

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 23 50 24 25 56 29 52 42 14
Cystine Storage Disease 12 50 25
Protein Defect of Cystin Transport 56
Nephropathic Cystinosis 69
Cystine Diathesis 50
Cystine Disease 50
Cystinoses 50

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Inborn errors of metabolism


Summaries for Cystinosis

NIH Rare Diseases : 50 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. last updated: 11/11/2011

MalaCards based summary : Cystinosis, also known as cystine storage disease, is related to cystinosis, nephropathic and cystinosis, ocular nonnephropathic, and has symptoms including short stature, failure to thrive and visual impairment. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways is Miscellaneous transport and binding events. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid, and related phenotype is renal/urinary system.

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.

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.

Wikipedia : 72 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews: NBK1400

Related Diseases for Cystinosis

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 proteinuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0000093
5 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
6 renal tubular dysfunction 56 32 hallmark (90%) Very frequent (99-80%) HP:0000124
7 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
8 aminoaciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003355
9 vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002013
10 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
11 hypokalemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002900
12 photophobia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000613
13 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
14 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
15 delayed puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000823
16 dysphasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002357
17 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
18 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
19 portal hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0001409
20 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
21 dehydration 56 32 hallmark (90%) Very frequent (99-80%) HP:0001944
22 polydipsia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001959
23 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
24 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
25 hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002148
26 nephropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000112
27 rickets 56 32 frequent (33%) Frequent (79-30%) HP:0002748
28 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
29 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
30 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
31 stereotypy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000733
32 nephrogenic diabetes insipidus 56 32 hallmark (90%) Very frequent (99-80%) HP:0009806
33 type i diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0100651

UMLS symptoms related to Cystinosis:


polyuria, polydipsia, photophobia

MGI Mouse Phenotypes related to Cystinosis:

44
id 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 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11 cysteine Nutraceutical Phase 4
12
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
13
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
14 Adrenergic Agents Phase 2,Phase 1
15 Autonomic Agents Phase 2,Phase 1
16 Central Nervous System Stimulants Phase 2,Phase 1
17 Dopamine Agents Phase 2,Phase 1
18 Dopamine Uptake Inhibitors Phase 2,Phase 1
19 Neurotransmitter Agents Phase 2,Phase 1
20 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
21 Ophthalmic Solutions Phase 2,Phase 1
22 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
23 Pharmaceutical Solutions Phase 2
24 Tetrahydrozoline Phase 2,Phase 1
25
Capsaicin Approved Early Phase 1 404-86-4 1548943
26 Antipruritics Early Phase 1
27 Dermatologic Agents Early Phase 1

Interventional clinical trials:

(show all 24)

id Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
3 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
4 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 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103 Q12H
6 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
7 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
8 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
9 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2 Cysteamine
10 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
11 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
12 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
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
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 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 Cystagon™ Completed NCT01432561 Cysteamine bitartrate
21 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Cysteamine
22 Salivary Proteins in Disease and Health Completed NCT00100204
23 Cure Cystinosis International Registry Recruiting NCT01327807
24 Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease Recruiting NCT02837523

Search NIH Clinical Center for Cystinosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis 29 24 CTNS

Anatomical Context for Cystinosis

MalaCards organs/tissues related to Cystinosis:

39
Kidney, Eye, Thyroid, Testes, Pancreas, Bone, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 593)
id Title Authors Year
1
Infantile cystinosis: From dialysis to renal transplantation. ( 28937083 )
2017
2
Endocrine Complications of Cystinosis. ( 28343475 )
2017
3
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. ( 28638260 )
2017
4
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. ( 28198397 )
2017
5
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
6
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
7
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
8
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
9
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
10
Bone Complications of Cystinosis. ( 28343472 )
2017
11
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
12
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
13
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
14
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
15
A short cut diagnostic tool in cystinosis: Bone marrow aspiration. ( 28871612 )
2017
16
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
17
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
18
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
19
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
2017
20
Nephropathic cystinosis: an update. ( 28107209 )
2017
21
Structured Transition Protocol for Children with Cystinosis. ( 28913329 )
2017
22
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
23
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
24
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. ( 28426870 )
2017
25
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. ( 28793998 )
2017
26
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
27
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report. ( 28950840 )
2017
28
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
29
Endocrine complications during and after adolescence in a patient with cystinosis. ( 27777912 )
2016
30
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. ( 26812160 )
2016
31
Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis. ( 27571217 )
2016
32
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. ( 27493869 )
2016
33
Preformulation of cysteamine gels for treatment of the ophthalmic complications in cystinosis. ( 27771488 )
2016
34
Cystinosis in Eastern Turkey. ( 27269891 )
2016
35
Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis. ( 27215258 )
2016
36
Altered mTOR signalling in nephropathic cystinosis. ( 26909499 )
2016
37
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27181776 )
2016
38
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
39
Skeletal implications and management of cystinosis: three case reports and literature review. ( 27579165 )
2016
40
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. ( 27858370 )
2016
41
Cystinosis: a review. ( 27102039 )
2016
42
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. ( 28033491 )
2016
43
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. ( 28276207 )
2016
44
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. ( 26980209 )
2016
45
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2016
46
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57a88kb deletion. ( 27734949 )
2016
47
A coordinated transition model for patients with cystinosis: from pediatrics to adult care. ( 27595514 )
2016
48
A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. ( 25811319 )
2015
49
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. ( 25586965 )
2015
50
A case of corneal cystinosis in a patient with rickets and chronic renal failure. ( 26655004 )
2015

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
2 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh37 Chromosome 17, 3543518: 3543521
3 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Pathogenic/Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
4 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Pathogenic rs879255615 GRCh37 Chromosome 17, 3558389: 3558389
5 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh38 Chromosome 17, 3655029: 3655030
6 CTNS NM_004937.2: c.661insT insertion Pathogenic
7 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh38 Chromosome 17, 3647473: 3647473
8 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh37 Chromosome 17, 3550796: 3550796
9 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh37 Chromosome 17, 3558567: 3558567
10 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh37 Chromosome 17, 3558582: 3558582
11 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh37 Chromosome 17, 3559863: 3559863
12 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh37 Chromosome 17, 3563221: 3563221

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.9 CTNS PQLC2

GO Terms for Cystinosis

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.54 CTNS CUBN LRP2
2 clathrin-coated pit GO:0005905 9.32 CUBN LRP2
3 brush border GO:0005903 9.26 CUBN LRP2
4 endocytic vesicle GO:0030139 9.16 CUBN LRP2
5 brush border membrane GO:0031526 8.96 CUBN LRP2
6 lysosomal membrane GO:0005765 8.92 CTNS CUBN LRP2 PQLC2

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 CUBN LCAT LRP2 TRPV1
2 excitatory postsynaptic potential GO:0060079 9.32 P2RX5 TRPV1
3 cellular amino acid metabolic process GO:0006520 9.26 CTNS GSS
4 lipoprotein transport GO:0042953 8.96 CUBN LRP2
5 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....