MCID: CYS010
MIFTS: 53

Cystinosis malady

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

Aliases & Classifications for Cystinosis

Aliases & Descriptions 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


External Ids:

Disease Ontology 12 DOID:1064
ICD10 33 E72.04
MeSH 42 D003554
NCIt 47 C2976
Orphanet 56 ORPHA213
MESH via Orphanet 43 D003554
UMLS via Orphanet 70 C0010690
ICD10 via Orphanet 34 E72.0
UMLS 69 C2931187

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 fatigue, fever and photophobia. 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.

Disease Ontology : 12 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17.

Genetics Home Reference : 25 Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.

Wikipedia : 71 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 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 fever 56 32 Occasional (29-5%) HP:0001945
3 photophobia 56 32 Very frequent (99-80%) HP:0000613
4 vomiting 56 32 Very frequent (99-80%) HP:0002013
5 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
6 polydipsia 56 32 Very frequent (99-80%) HP:0001959
7 abnormal pyramidal signs 56 32 Occasional (29-5%) HP:0007256
8 hypothyroidism 56 32 Very frequent (99-80%) HP:0000821
9 gait disturbance 56 32 Occasional (29-5%) HP:0001288
10 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
11 dysphasia 56 32 Occasional (29-5%) HP:0002357
12 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
13 malabsorption 56 32 Occasional (29-5%) HP:0002024
14 visual impairment 56 32 Occasional (29-5%) HP:0000505
15 short stature 56 32 Very frequent (99-80%) HP:0004322
16 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
17 proteinuria 56 32 Very frequent (99-80%) HP:0000093
18 nephropathy 56 32 Very frequent (99-80%) HP:0000112
19 renal tubular dysfunction 56 32 Very frequent (99-80%) HP:0000124
20 retinopathy 56 32 Frequent (79-30%) HP:0000488
21 stereotypy 56 32 Very frequent (99-80%) HP:0000733
22 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
23 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
24 portal hypertension 56 32 Occasional (29-5%) HP:0001409
25 dehydration 56 32 Very frequent (99-80%) HP:0001944
26 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
27 rickets 56 32 Frequent (79-30%) HP:0002748
28 hypokalemia 56 32 Very frequent (99-80%) HP:0002900
29 myopathy 56 32 Very frequent (99-80%) HP:0003198
30 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
31 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
32 nephrogenic diabetes insipidus 56 32 Very frequent (99-80%) HP:0009806
33 type i diabetes mellitus 56 32 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
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4
2 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4
3 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3
4 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3
5 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Active, not recruiting NCT01733316 Phase 3
6 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Active, not recruiting NCT01197378 Phase 3
7 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2
8 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2
9 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2
10 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2
11 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1
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
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
21 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855
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 583)
id Title Authors Year
1
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
2
Endocrine Complications of Cystinosis. ( 28343475 )
2017
3
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. ( 28198397 )
2017
4
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
5
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
6
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. ( 28426870 )
2017
7
Bone Complications of Cystinosis. ( 28343472 )
2017
8
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
9
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
10
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
11
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
12
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
13
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
14
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
15
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
16
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
17
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
2017
18
Nephropathic cystinosis: an update. ( 28107209 )
2017
19
Skeletal implications and management of cystinosis: three case reports and literature review. ( 27579165 )
2016
20
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2016
21
Preformulation of cysteamine gels for treatment of the ophthalmic complications in cystinosis. ( 27771488 )
2016
22
A coordinated transition model for patients with cystinosis: from pediatrics to adult care. ( 27595514 )
2016
23
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
24
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. ( 26812160 )
2016
25
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. ( 26980209 )
2016
26
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27181776 )
2016
27
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57a88kb deletion. ( 27734949 )
2016
28
Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis. ( 27571217 )
2016
29
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. ( 27493869 )
2016
30
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
31
Cystinosis: a review. ( 27102039 )
2016
32
Cystinosis in Eastern Turkey. ( 27269891 )
2016
33
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. ( 28033491 )
2016
34
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. ( 27858370 )
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
Endocrine complications during and after adolescence in a patient with cystinosis. ( 27777912 )
2016
38
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
39
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. ( 25526929 )
2015
40
First report of CTNS mutations in a Chinese family with infantile cystinosis. ( 25866837 )
2015
41
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. ( 26266097 )
2015
42
Lupus in a patient with cystinosis: is it drug induced? ( 26223294 )
2015
43
Cysteamine in renal transplantation: A report of two patients with nephropathic cystinosis and the successful re-initiation of cysteamine therapy during the immediate post-transplant period. ( 26477696 )
2015
44
Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria. ( 25954677 )
2015
45
Cystinosis: a new perspective. ( 25560059 )
2015
46
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. ( 26565940 )
2015
47
The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 26580242 )
2015
48
Hirschsprung's disease with infantile nephropathic cystinosis. ( 26166990 )
2015
49
Management dilemmas in pediatric nephrology: Cystinosis. ( 25956701 )
2015
50
Chiari I Malformation in Nephropathic Cystinosis. ( 26265281 )
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 rs786204423 GRCh37 Chromosome 17, 3560022: 3560024
4 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh37 Chromosome 17, 3558323: 3558324
5 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Pathogenic rs879255615 GRCh37 Chromosome 17, 3558389: 3558389
6 CTNS NM_004937.2: c.661insT insertion Pathogenic
7 CTNS NM_001031681.2(CTNS): c.91dupG (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 extracellular exosome GO:0070062 9.7 CTNS CUBN GSS LCAT LRP2 RAB27A
2 apical plasma membrane GO:0016324 9.5 CUBN LRP2 RAB27A
3 clathrin-coated pit GO:0005905 9.43 CUBN LRP2
4 brush border GO:0005903 9.4 CUBN LRP2
5 endocytic vesicle GO:0030139 9.37 CUBN LRP2
6 brush border membrane GO:0031526 9.26 CUBN LRP2
7 lysosome GO:0005764 9.26 CTNS CUBN LRP2 RAB27A
8 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 9.37 P2RX5 TRPV1
3 lipoprotein metabolic process GO:0042157 9.32 CUBN LCAT
4 cellular amino acid metabolic process GO:0006520 9.26 CTNS GSS
5 lipoprotein transport GO:0042953 8.96 CUBN LRP2
6 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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