CTNS
MCID: CYS036
MIFTS: 51

Cystinosis, Nephropathic (CTNS)

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

Aliases & Classifications for Cystinosis, Nephropathic

MalaCards integrated aliases for Cystinosis, Nephropathic:

Name: Cystinosis, Nephropathic 56 54
Cystinosis, Atypical Nephropathic 56 29 13 6
Nephropathic Cystinosis 52 29 6 71
Ctns 56 52 73
Lysosomal Cystine Transport Protein, Defect of 56 52
Cystinosin, Defect of 56 52
Defect of Lysosomal Cystine Transport Protein 73
Nephropathic Infantile Cystinosis 58
Cystinosis Infantile Nephropathic 73
Cystinosis Atypical Nephropathic 73
Cystinosis, Nephropathic Type 73
Defect of Cystinosin 73
Fanconi Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
nephropathic infantile cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: adult;

OMIM:

56
Miscellaneous:
male infertility
incidence 1/100,000 - 1/200,000 live births
presentation in first year of life
three types of cystinosis are recognized - (1) infantile nephropathic , (2) juvenile or adolescent nephropathic , (3) adult nonnephropathic

Inheritance:
autosomal recessive


HPO:

31
cystinosis, nephropathic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Cystinosis, Nephropathic

OMIM : 56 Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome. (219800)

MalaCards based summary : Cystinosis, Nephropathic, also known as cystinosis, atypical nephropathic, is related to cystinosis and cystinosis, adult nonnephropathic, and has symptoms including photophobia, polydipsia and polyuria. An important gene associated with Cystinosis, Nephropathic is CTNS (Cystinosin, Lysosomal Cystine Transporter). The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are failure to thrive and constipation

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.

UniProtKB/Swiss-Prot : 73 Cystinosis, nephropathic type: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications.

Related Diseases for Cystinosis, Nephropathic

Diseases related to Cystinosis, Nephropathic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 cystinosis 12.0
2 cystinosis, adult nonnephropathic 11.5
3 corneal deposit 11.2
4 renal tubular transport disease 11.2
5 hypothyroidism 10.7
6 miyoshi muscular dystrophy 10.5
7 renal tubular acidosis 10.5
8 cerebral atrophy 10.5
9 graft-versus-host disease 10.4
10 acute graft versus host disease 10.4
11 bone disease 10.4
12 fanconi syndrome 10.4
13 nephrotic syndrome 10.4
14 hypogonadism 10.4
15 keratopathy 10.4
16 hypogonadotropism 10.4
17 end stage renal failure 10.4
18 splenomegaly 10.4
19 dysphagia 10.4
20 substance abuse 10.3
21 atrial standstill 1 10.3
22 diabetes insipidus, nephrogenic, autosomal 10.3
23 fanconi renotubular syndrome 1 10.3
24 ataxia and polyneuropathy, adult-onset 10.3
25 autosomal recessive disease 10.3
26 portal hypertension 10.3
27 hydrocephalus 10.3
28 nephrocalcinosis 10.3
29 renal osteodystrophy 10.3
30 uveitis 10.3
31 hyperparathyroidism 10.3
32 gaucher's disease 10.3
33 blepharospasm 10.3
34 inherited metabolic disorder 10.3
35 muscular atrophy 10.3
36 chronic kidney disease 10.3
37 diabetes insipidus 10.3
38 cataract 10.3
39 myeloma, multiple 10.2
40 adenocarcinoma 10.2
41 achoo syndrome 10.1
42 duane retraction syndrome 1 10.1
43 hand skill, relative 10.1
44 endosteal hyperostosis, autosomal dominant 10.1
45 optic atrophy 1 10.1
46 nephrolithiasis, calcium oxalate 10.1
47 varicose veins 10.1
48 corneal dystrophy, band-shaped 10.1
49 cystinosis, late-onset juvenile or adolescent nephropathic type 10.1
50 gaucher disease, type i 10.1

Graphical network of the top 20 diseases related to Cystinosis, Nephropathic:



Diseases related to Cystinosis, Nephropathic

Symptoms & Phenotypes for Cystinosis, Nephropathic

Human phenotypes related to Cystinosis, Nephropathic:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 renal tubular dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000124
4 photophobia 58 31 very rare (1%) Very frequent (99-80%) HP:0000613
5 dehydration 58 31 very rare (1%) Very frequent (99-80%) HP:0001944
6 polydipsia 58 31 very rare (1%) Very frequent (99-80%) HP:0001959
7 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
8 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
9 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
10 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
11 rickets 58 31 very rare (1%) Very frequent (99-80%) HP:0002748
12 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
13 tubulointerstitial abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001969
14 glycosuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003076
15 renal fanconi syndrome 58 31 very rare (1%) Very frequent (99-80%) HP:0001994
16 hyperphosphaturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003109
17 low-molecular-weight proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003126
18 abnormality of vitamin d metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0100511
19 corneal crystals 58 31 hallmark (90%) Very frequent (99-80%) HP:0000531
20 hyperchloremic metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004918
21 pigmentary retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000580
22 abnormality of thyroid physiology 58 31 frequent (33%) Frequent (79-30%) HP:0002926
23 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
24 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
25 cerebral calcification 31 very rare (1%) HP:0002514
26 diabetes mellitus 31 very rare (1%) HP:0000819
27 blindness 31 very rare (1%) HP:0000618
28 myopathy 31 very rare (1%) HP:0003198
29 renal insufficiency 31 very rare (1%) HP:0000083
30 male hypogonadism 31 very rare (1%) HP:0000026
31 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
32 oral-pharyngeal dysphagia 31 very rare (1%) HP:0200136
33 primary hypothyroidism 31 very rare (1%) HP:0000832
34 frontal bossing 31 HP:0002007
35 genu valgum 31 HP:0002857
36 dysphagia 31 HP:0002015
37 splenomegaly 31 HP:0001744
38 hepatomegaly 31 HP:0002240
39 delayed skeletal maturation 31 HP:0002750
40 short stature 31 HP:0004322
41 proteinuria 31 HP:0000093
42 delayed puberty 31 HP:0000823
43 retinopathy 31 HP:0000488
44 skeletal muscle atrophy 31 HP:0003202
45 hypohidrosis 31 HP:0000966
46 failure to thrive in infancy 31 HP:0001531
47 exocrine pancreatic insufficiency 31 HP:0001738
48 hypopigmentation of hair 31 HP:0005599
49 nephrolithiasis 31 HP:0000787
50 hyponatremia 31 HP:0002902

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
proteinuria
hypophosphatemia
hyponatremia
microscopic hematuria
generalized aminoaciduria
more
Endocrine Features:
delayed puberty
primary hypothyroidism
insulin dependent diabetes mellitus

Muscle Soft Tissue:
myopathy
muscle wasting
swallowing difficulties

Skeletal:
hypophosphatemic rickets
delayed bone age

Growth Weight:
normal birth weight

Genitourinary Kidneys:
renal failure
renal tubular fanconi syndrome
renal calculi (urate and calcium oxalate)

Growth Other:
failure to thrive in first year of life

Skin Nails Hair Hair:
light hair pigmentation compared to unaffected sibs

Skeletal Limbs:
genu valgum
metaphyseal widening

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
photophobia
recurrent corneal erosions
corneal crystals
decreased visual acuity
peripheral retinopathy

Metabolic Features:
polydipsia
polyuria
recurrent episodes of acidosis
recurrent episodes of dehydration

Neurologic Central Nervous System:
cerebral atrophy
normal intelligence
neurologic deterioration in long-term survivors
specific visual spatial processing defect

Chest Ribs Sternum Clavicles And Scapulae:
rachitic rosary

Growth Height:
normal birth length
short stature in first year of life

Abdomen Pancreas:
pancreatic insufficiency

Skin Nails Hair Skin:
decreased ability to sweat
light skin pigmentation compared to unaffected sibs

Voice:
hypophonic speech

Clinical features from OMIM:

219800

UMLS symptoms related to Cystinosis, Nephropathic:


photophobia, polydipsia, polyuria

Drugs & Therapeutics for Cystinosis, Nephropathic

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

(show top 50) (show all 127)
# 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 Respiratory System Agents Phase 4
4 N-monoacetylcystine Phase 4
5 Free Radical Scavengers Phase 4
6 Antidotes Phase 4
7 Expectorants Phase 4
8
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
9
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
10
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
11 Nutrients Phase 3
12 Antihypertensive Agents Phase 2, Phase 3
13 Natriuretic Agents Phase 2, Phase 3
14 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
15 diuretics Phase 2, Phase 3
16
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
17
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
18
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
19
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
20
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
21
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
22
Metformin Approved Phase 2 657-24-9 14219 4091
23
rituximab Approved Phase 2 174722-31-7 10201696
24
Sargramostim Approved, Investigational Phase 1, Phase 2 123774-72-1, 83869-56-1
25
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
26
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
27
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
28
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
29
Quercetin Experimental, Investigational Phase 2 117-39-5 5280343
30
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
31 Pharmaceutical Solutions Phase 2
32 Ophthalmic Solutions Phase 2
33 Anti-Infective Agents Phase 1, Phase 2
34 Adrenergic Agents Phase 2
35 Sympathomimetics Phase 2
36 Central Nervous System Stimulants Phase 2
37 Neurotransmitter Agents Phase 2
38 Dopamine Uptake Inhibitors Phase 2
39 Dopamine Agents Phase 2
40 Siderophores Phase 2
41 Iron Chelating Agents Phase 2
42 Chelating Agents Phase 2
43 Cardiac Glycosides Phase 2
44 Antioxidants Phase 2
45 Hypoglycemic Agents Phase 2
46 Thymoglobulin Phase 2
47 Antineoplastic Agents, Hormonal Phase 2
48 Antiviral Agents Phase 1, Phase 2
49 Anti-Retroviral Agents Phase 1, Phase 2
50 Plerixafor octahydrochloride Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 83)
# 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 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®
3 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
4 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)
5 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
6 Collaborative Italian-American Clinical Trial of Nutritional Supplements and Age-related Cataract (CTNS) Completed NCT00309387 Phase 3
7 Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
8 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
9 Clinical Phase II Trial to Evaluate Efficacy and Safety of CD34+ Cells Mobilization and Collection After Treatment With Plerixafor and Filgrastim in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene and Reinfusion in the Patient Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
10 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
11 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
12 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
13 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
14 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
15 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
16 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
17 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01082133 Phase 2 Chemotherapy
18 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
19 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
20 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
21 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
22 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
23 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
24 T Cell Receptor Alpha/Beta T Cell Depleted (α/β TCD) Hematopoietic Cell Transplantation in Patients With Fanconi Anemia (FA) Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2);Rituximab
25 A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients With Fanconi Anemia Subtype A Recruiting NCT04069533 Phase 2
26 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
27 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
28 A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
29 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
30 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
31 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
32 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
33 Clinical Trial Phase I / II to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34 + Cells Transduced With a Lentiviral Vector Carrying the Gene FANCA in Patients With FA Subtype A (FANCOLEN-1) Active, not recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
34 Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
35 A Study of Thymic Shielding in Recipients of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Stem Cell Transplantation in Patients With Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
36 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
37 Cd45 (Yth-24 and Yth 54) and Cd52 (Campath-1H) Monoclonal Antibody Conditioning Regimen for Allogeneic Donor Stem Cell Transplantation of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
38 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
39 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
40 Dose-Finding Study for Cyclophosphamide as Conditioning Regimens for Bone Marrow Transplantation From Related Donors in Patients With Fanconi Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
41 Low-Dose Total Body Irradiation and Fludarabine Followed By Unrelated Donor Stem Cell Transplantation for Patients With Fanconi Anemia - A Multicenter Trial Completed NCT00093743 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
42 A Pilot Trial of Oxandrolone for the Treatment of Bone Marrow Aplasia in Patients With Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
43 Gene Transfer From Patients With Fanconi Anemia, Genotype A: A Pilot Study Completed NCT00272857 Phase 1
44 Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients Completed NCT00001399 Phase 1 Transduced CD34+ Cells
45 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
46 A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Active, not recruiting NCT03814408 Phase 1
47 Gene Transfer for Patients With Fanconi Anemia Complementation Group A (FANCA) Active, not recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
48 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine
49 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
50 Study of Renal Transporters and Their Regulators After Renal Transplantation Unknown status NCT00427024

Search NIH Clinical Center for Cystinosis, Nephropathic

Genetic Tests for Cystinosis, Nephropathic

Genetic tests related to Cystinosis, Nephropathic:

# Genetic test Affiliating Genes
1 Nephropathic Cystinosis 29 CTNS
2 Cystinosis, Atypical Nephropathic 29

Anatomical Context for Cystinosis, Nephropathic

MalaCards organs/tissues related to Cystinosis, Nephropathic:

40
Bone, Kidney, Bone Marrow, Eye, Skin, Myeloid, T Cells

Publications for Cystinosis, Nephropathic

Articles related to Cystinosis, Nephropathic:

(show top 50) (show all 445)
# Title Authors PMID Year
1
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 56 6
10673275 2000
2
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 54 61 56 6
10556299 1999
3
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 61 56 6
10482956 1999
4
CTNS mutations in an American-based population of cystinosis patients. 61 56 6
9792862 1998
5
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 61 56 6
9537412 1998
6
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 56 6
12442267 2002
7
Cystinosis. 56 6
12110740 2002
8
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. 54 61 6
11565547 2001
9
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 54 61 6
10625078 2000
10
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. 54 61 56
10417278 1999
11
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
12
Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. 61 56
17643777 2007
13
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. 61 56
16603246 2006
14
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. 61 6
11505338 2001
15
Cystinosis 61 6
20301574 2001
16
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. 61 56
11001803 2000
17
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis. 61 56
8644713 1996
18
Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. 61 56
7593434 1995
19
Global intellectual deficits in cystinosis. 61 56
8172256 1994
20
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. 61 56
1552398 1992
21
Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts. 61 56
1546366 1992
22
Swallowing dysfunction in nephropathic cystinosis. 61 56
2381441 1990
23
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. 61 56
3185663 1988
24
NIH conference. Cystinosis: progress in a prototypic disease. 61 56
3048161 1988
25
Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. 61 56
3292915 1988
26
Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. 61 56
3335962 1988
27
Nephropathic cystinosis with central nervous system involvement. 61 56
3674101 1987
28
Pancreatic endocrine insufficiency in posttransplant cystinosis. 61 56
3307383 1987
29
An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. 61 56
3618595 1987
30
Cysteamine therapy for children with nephropathic cystinosis. 61 56
3550461 1987
31
Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. 61 56
3821824 1987
32
Long-term treatment of infantile nephropathic cystinosis with cysteamine. 61 56
4058549 1985
33
Association of certain human leukocyte antigens with nephropathic cystinosis in the absence of linkage between these loci. 61 56
7211839 1981
34
Effects of cysteamine therapy in nephropathic cystinosis. 61 56
7442733 1981
35
Endocrine studies in cystinosis: compensated primary hypothyroidism. 61 56
406375 1977
36
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 6
27734949 2016
37
LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. 56
22822152 2012
38
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 6
19863563 2009
39
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 6
15365816 2004
40
Mutational spectrum of the CTNS gene in Italy. 56
12825071 2003
41
Improved renal function in children with cystinosis treated with cysteamine. 56
8455682 1993
42
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56
1937486 1991
43
First trimester diagnosis of cystinosis using intact chorionic villi. 56
3575264 1987
44
Prenatal diagnosis of cystinosis utilizing chorionic villus sampling. 56
3823003 1987
45
Therapy of cystinosis. 56
4058550 1985
46
Decreased sweat production in cystinosis. 56
6726525 1984
47
Lysosomal cystine counter-transport in heterozygotes for cystinosis. 56
6711558 1984
48
ATP-dependent lysosomal cystine efflux is defective in cystinosis. 56
6292178 1982
49
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. 56
7112129 1982
50
Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. 56
7078591 1982

Variations for Cystinosis, Nephropathic

ClinVar genetic disease variations for Cystinosis, Nephropathic:

6 (show top 50) (show all 211) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.58_59TG[1] (p.Cys20_Glu21delinsTer)short repeat Pathogenic 4442 rs1567695026 17:3543558-3543559 17:3640264-3640265
3 CTNS NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)SNV Pathogenic 4441 rs121908124 17:3558349-3558349 17:3655055-3655055
4 CTNS NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)SNV Pathogenic 4443 rs113994205 17:3558599-3558599 17:3655305-3655305
5 CTNS nsv1067862deletion Pathogenic 4445 17:3504228-3561459 17:3600934-3658165
6 CTNS NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)SNV Pathogenic 4446 rs121908126 17:3559825-3559825 17:3656531-3656531
7 CTNS CTNS, -295G-C, PROMOTERSNV Pathogenic 4452
8 CTNS NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)SNV Pathogenic 4455 rs121908127 17:3563574-3563574 17:3660280-3660280
9 CTNS NM_004937.3(CTNS):c.329G>T (p.Gly110Val)SNV Pathogenic 4457 rs121908129 17:3558395-3558395 17:3655101-3655101
10 CTNS NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)SNV Pathogenic 21439 rs113994206 17:3559792-3559792 17:3656498-3656498
11 CTNS NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)SNV Pathogenic 21440 rs113994208 17:3560021-3560021 17:3656727-3656727
12 CTNS NM_004937.3(CTNS):c.696dup (p.Val233fs)duplication Pathogenic 21441 rs113994209 17:3561312-3561313 17:3658018-3658019
13 CTNS NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)SNV Pathogenic 267310 rs746307931 17:3563221-3563221 17:3659927-3659927
14 CTNS NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)deletion Pathogenic 371212 rs745365232 17:3559837-3559838 17:3656543-3656544
15 CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs)duplication Pathogenic 371084 rs893207601 17:3560053-3560054 17:3656759-3656760
16 CTNS NC_000017.10:g.(?_3539712)_(3561489_?)deldeletion Pathogenic 455786 17:3539712-3561489 17:3636418-3658195
17 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs)deletion Pathogenic 455787 rs879758262 17:3552206-3552210 17:3648912-3648916
18 CTNS NM_004937.3(CTNS):c.771_793del (p.Gly258fs)deletion Pathogenic 496276 rs759623796 17:3561376-3561398 17:3658082-3658104
19 CTNS NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs)indel Pathogenic 526031 rs1555564051 17:3561368-3561371 17:3658074-3658077
20 CTNS NC_000017.10:g.(?_3539712)_(3560109_?)deldeletion Pathogenic 526033 17:3539712-3560109 17:3636418-3656815
21 CTNS NM_004937.3(CTNS):c.681G>A (p.Glu227=)SNV Pathogenic 553330 rs778414542 17:3560089-3560089 17:3656795-3656795
22 CTNS NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)SNV Pathogenic 551289 rs917630768 17:3563189-3563189 17:3659895-3659895
23 CTNS NM_004937.3(CTNS):c.829dup (p.Thr277fs)duplication Pathogenic 551290 rs752919200 17:3561445-3561446 17:3658151-3658152
24 CTNS NC_000017.10:g.(?_3550738)_(3561469_?)deldeletion Pathogenic 584155 17:3550738-3561469 17:3647444-3658175
25 CTNS NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)SNV Pathogenic 654346 17:3558614-3558614 17:3655320-3655320
26 CTNS NC_000017.10:g.(?_3550728)_(3552235_?)deldeletion Pathogenic 658450 17:3550728-3552235 17:3647434-3648941
27 CTNS NM_004937.3(CTNS):c.140+1G>TSNV Pathogenic 666181 17:3550817-3550817 17:3647523-3647523
28 CTNS NC_000017.10:g.(?_3550718)_(3552245_?)deldeletion Pathogenic 665648 17:3550718-3552245 17:3647424-3648951
29 CTNS NC_000017.10:g.(?_3561289)_(3564038_?)deldeletion Pathogenic 645871 17:3561289-3564038 17:3657995-3660744
30 CTNS NM_004937.3(CTNS):c.682-1G>TSNV Pathogenic 664004 17:3561298-3561298 17:3658004-3658004
31 CTNS NC_000017.10:g.(?_3539712)_(3561479_?)deldeletion Pathogenic 652375 17:3539712-3561479 17:3636418-3658185
32 CTNS NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)SNV Pathogenic/Likely pathogenic 651886 rs1436441738 17:3558607-3558607 17:3655313-3655313
33 CTNS NM_004937.3(CTNS):c.853-2A>GSNV Pathogenic/Likely pathogenic 496277 rs1475322504 17:3563150-3563150 17:3659856-3659856
34 CTNS NM_004937.3(CTNS):c.971-12G>ASNV Pathogenic/Likely pathogenic 526030 rs375952052 17:3563518-3563518 17:3660224-3660224
35 CTNS NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)SNV Pathogenic/Likely pathogenic 4451 rs113994207 17:3559997-3559997 17:3656703-3656703
36 CTNS NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)SNV Pathogenic/Likely pathogenic 267306 rs550254092 17:3558567-3558567 17:3655273-3655273
37 CTNS NM_004937.3(CTNS):c.559_561+24deldeletion Pathogenic/Likely pathogenic 21442 rs113994211 17:3559867-3559893 17:3656573-3656599
38 CTNS NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)deletion Pathogenic/Likely pathogenic 21438 rs113994204 17:3552198-3552218 17:3648904-3648924
39 CTNS NM_004937.3(CTNS):c.926dup (p.Ser310fs)duplication Pathogenic/Likely pathogenic 188714 rs786204420 17:3563220-3563221 17:3659926-3659927
40 CTNS NM_004937.3(CTNS):c.323del (p.Gln108fs)deletion Likely pathogenic 253205 rs879255615 17:3558389-3558389 17:3655095-3655095
41 CTNS NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)SNV Likely pathogenic 4458 rs267606754 17:3558601-3558601 17:3655307-3655307
42 CTNS NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)deletion Likely pathogenic 188906 rs786204550 17:3552199-3552219 17:3648905-3648925
43 CTNS NM_004937.3(CTNS):c.225+5_225+6delinsCCindel Likely pathogenic 188893 rs786204541 17:3552230-3552231 17:3648936-3648937
44 CTNS NM_004937.3(CTNS):c.292dup (p.Thr98fs)duplication Likely pathogenic 188741 rs786204434 17:3558357-3558358 17:3655063-3655064
45 CTNS NM_004937.3(CTNS):c.561+1deldeletion Likely pathogenic 189067 rs786204667 17:3559880-3559880 17:3656586-3656586
46 CTNS NM_004937.3(CTNS):c.611_613ACG[1] (p.Asp205del)short repeat Likely pathogenic 188718 rs760256854 17:3560019-3560021 17:3656725-3656727
47 CTNS NM_004937.3(CTNS):c.809_811del (p.Ser270del)deletion Likely pathogenic 189020 rs786204632 17:3561424-3561426 17:3658130-3658132
48 CTNS NM_004937.3(CTNS):c.681+2T>CSNV Likely pathogenic 370728 rs1057516723 17:3560091-3560091 17:3656797-3656797
49 CTNS NM_004937.3(CTNS):c.682-1G>ASNV Likely pathogenic 370791 rs1057516771 17:3561298-3561298 17:3658004-3658004
50 CTNS NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)SNV Likely pathogenic 371076 rs763089013 17:3561351-3561351 17:3658057-3658057

UniProtKB/Swiss-Prot genetic disease variations for Cystinosis, Nephropathic:

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 CTNS p.Gly169Asp VAR_010286 rs121908126
2 CTNS p.Ile133Phe VAR_010677 rs886040970
3 CTNS p.Ser139Phe VAR_010678 rs267606754
4 CTNS p.Leu158Pro VAR_010680 rs113994206
5 CTNS p.Trp182Arg VAR_010681 rs764168489
6 CTNS p.Asp205Asn VAR_010683 rs113994208
7 CTNS p.Asp305Gly VAR_010690 rs126395153
8 CTNS p.Asp305Tyr VAR_010691
9 CTNS p.Gly308Arg VAR_010692 rs746307931
10 CTNS p.Leu338Pro VAR_010694
11 CTNS p.Gly339Arg VAR_010695 rs121908127
12 CTNS p.Asp346Asn VAR_010698 rs757535731
13 CTNS p.Ser298Asn VAR_012315 rs121213376
14 CTNS p.Gly110Val VAR_037318 rs121908129
15 CTNS p.Gln222Arg VAR_037321 rs132795900
16 CTNS p.Asn288Lys VAR_037322
17 CTNS p.Arg151Gly VAR_067490 rs155556301
18 CTNS p.Gly157Asp VAR_067491
19 CTNS p.Tyr173Cys VAR_067492 rs155556344
20 CTNS p.Asn177Ser VAR_067493
21 CTNS p.Met287Ile VAR_067494 rs922106812
22 CTNS p.Gly308Val VAR_067495 rs908965524
23 CTNS p.Gly309Asp VAR_067496
24 CTNS p.Gly337Arg VAR_067497
25 CTNS p.Leu338Arg VAR_067498

Expression for Cystinosis, Nephropathic

Search GEO for disease gene expression data for Cystinosis, Nephropathic.

Pathways for Cystinosis, Nephropathic

GO Terms for Cystinosis, Nephropathic

Sources for Cystinosis, Nephropathic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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48 NCI
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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