CTNS
MCID: CYS036
MIFTS: 53

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 57 55
Cystinosis, Atypical Nephropathic 57 29 13 6
Nephropathic Cystinosis 53 29 6 72
Ctns 57 53 74
Lysosomal Cystine Transport Protein, Defect of 57 53
Cystinosin, Defect of 57 53
Defect of Lysosomal Cystine Transport Protein 74
Nephropathic Infantile Cystinosis 59
Cystinosis Infantile Nephropathic 74
Cystinosis Atypical Nephropathic 74
Cystinosis, Nephropathic Type 74
Defect of Cystinosin 74
Fanconi Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
nephropathic infantile cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: adult;

OMIM:

57
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:

32
cystinosis, nephropathic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 219800
MeSH 44 D003554
ICD10 via Orphanet 34 E72.0+ N16.3*
UMLS via Orphanet 73 C3537440
Orphanet 59 ORPHA411629
UMLS 72 C0015624 C2931187

Summaries for Cystinosis, Nephropathic

OMIM : 57 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 abderhalden kaufmann lignac syndrome, 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 N-monoacetylcystine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are failure to thrive and constipation

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.

UniProtKB/Swiss-Prot : 74 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 165)
# Related Disease Score Top Affiliating Genes
1 cystinosis 31.3 TAX1BP3 SHPK CTNS
2 abderhalden kaufmann lignac syndrome 11.5
3 cystinosis, adult nonnephropathic 11.5
4 corneal deposit 11.3
5 chronic purulent otitis media 11.3
6 extraosseous ewing sarcoma 11.3
7 hypothyroidism 10.7
8 miyoshi muscular dystrophy 10.5
9 renal tubular acidosis 10.5
10 cerebral atrophy 10.5
11 graft-versus-host disease 10.4
12 bone disease 10.4
13 nephrotic syndrome 10.4
14 hypogonadism 10.4
15 hypogonadotropism 10.4
16 chronic kidney disease 10.4
17 splenomegaly 10.4
18 end stage renal failure 10.4
19 acute graft versus host disease 10.4
20 substance abuse 10.3
21 atrial standstill 1 10.3
22 diabetes insipidus, nephrogenic, autosomal 10.3
23 ataxia and polyneuropathy, adult-onset 10.3
24 metabolic acidosis 10.3
25 portal hypertension 10.3
26 hydrocephalus 10.3
27 nephrocalcinosis 10.3
28 renal osteodystrophy 10.3
29 hyperparathyroidism 10.3
30 gaucher's disease 10.3
31 keratopathy 10.3
32 hypokalemia 10.3
33 blepharospasm 10.3
34 inherited metabolic disorder 10.3
35 diabetes insipidus 10.3
36 congenital hydrocephalus 10.3
37 dysphagia 10.3
38 fanconi syndrome 10.3
39 cataract 10.3
40 myeloma, multiple 10.2
41 adenocarcinoma 10.2
42 achoo syndrome 10.1
43 duane retraction syndrome 1 10.1
44 hand skill, relative 10.1
45 endosteal hyperostosis, autosomal dominant 10.1
46 nephrolithiasis, calcium oxalate 10.1
47 varicose veins 10.1
48 corneal dystrophy, band-shaped 10.1
49 gaucher disease, type i 10.1
50 hypogonadism, male 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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
3 renal tubular dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000124
4 photophobia 59 32 very rare (1%) Very frequent (99-80%) HP:0000613
5 dehydration 59 32 very rare (1%) Very frequent (99-80%) HP:0001944
6 polydipsia 59 32 very rare (1%) Very frequent (99-80%) HP:0001959
7 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
8 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
9 rickets 59 32 very rare (1%) Very frequent (99-80%) HP:0002748
10 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
11 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
12 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
13 tubulointerstitial abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001969
14 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
15 renal fanconi syndrome 59 32 very rare (1%) Very frequent (99-80%) HP:0001994
16 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
17 low-molecular-weight proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003126
18 abnormality of vitamin d metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100511
19 corneal crystals 59 32 hallmark (90%) Very frequent (99-80%) HP:0000531
20 hyperchloremic metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004918
21 pigmentary retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000580
22 abnormality of thyroid physiology 59 32 frequent (33%) Frequent (79-30%) HP:0002926
23 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
24 abnormality of the cerebral white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002500
25 diabetes mellitus 32 very rare (1%) HP:0000819
26 cerebral calcification 32 very rare (1%) HP:0002514
27 blindness 32 very rare (1%) HP:0000618
28 renal insufficiency 32 very rare (1%) HP:0000083
29 myopathy 32 very rare (1%) HP:0003198
30 male hypogonadism 32 very rare (1%) HP:0000026
31 oral-pharyngeal dysphagia 32 very rare (1%) HP:0200136
32 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774
33 primary hypothyroidism 32 very rare (1%) HP:0000832
34 frontal bossing 32 HP:0002007
35 genu valgum 32 HP:0002857
36 dysphagia 32 HP:0002015
37 splenomegaly 32 HP:0001744
38 hepatomegaly 32 HP:0002240
39 delayed skeletal maturation 32 HP:0002750
40 short stature 32 HP:0004322
41 proteinuria 32 HP:0000093
42 retinopathy 32 HP:0000488
43 delayed puberty 32 HP:0000823
44 skeletal muscle atrophy 32 HP:0003202
45 hypohidrosis 32 HP:0000966
46 failure to thrive in infancy 32 HP:0001531
47 exocrine pancreatic insufficiency 32 HP:0001738
48 hypopigmentation of hair 32 HP:0005599
49 nephrolithiasis 32 HP:0000787
50 hyponatremia 32 HP:0002902

Symptoms via clinical synopsis from OMIM:

57
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

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Cysteamine Given intravenously or orally to treat radiation sickness. The bitartrate salts (Cystagon® and Procysbi) have been used for the oral treatment of nephropathic cystinosis and cystinurea. The hydrochloride salt (Cystaran™) is indicated for the treatment of corneal cystine crystal accumulation in cystinosis patients. DB00847

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

(show top 50) (show all 142)
# 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 cysteine Phase 4
7 Expectorants Phase 4
8
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
9
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616 46835353
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
11
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
12 Nutrients Phase 3
13 Antimetabolites Phase 2, Phase 3
14 Antimetabolites, Antineoplastic Phase 2, Phase 3
15 Antihypertensive Agents Phase 2, Phase 3
16 Natriuretic Agents Phase 2, Phase 3
17 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
18 diuretics Phase 2, Phase 3
19
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
20
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
21
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
22
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
23
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
24
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
25
Metformin Approved Phase 2 657-24-9 4091 14219
26
rituximab Approved Phase 2 174722-31-7 10201696
27
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
28
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
29
Olaparib Approved Phase 2 763113-22-0 23725625
30
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
31
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
32
Quercetin Experimental, Investigational Phase 2 117-39-5 5280343
33
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
34 Ophthalmic Solutions Phase 2
35 Pharmaceutical Solutions Phase 2
36 Sympathomimetics Phase 2
37 Central Nervous System Stimulants Phase 2
38 Adrenergic Agents Phase 2
39 Neurotransmitter Agents Phase 2
40 Neurotransmitter Uptake Inhibitors Phase 2
41 Dopamine Uptake Inhibitors Phase 2
42 Dopamine Agents Phase 2
43 Siderophores Phase 2
44 Chelating Agents Phase 2
45 Iron Chelating Agents Phase 2
46 Antioxidants Phase 2
47 Hypoglycemic Agents Phase 2
48 Antiviral Agents Phase 1, Phase 2
49 Anti-Retroviral Agents Phase 1, Phase 2
50 Adjuvants, Immunologic Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 95)
# 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 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
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 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 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 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
7 Collaborative Italian-American Clinical Trial of Nutritional Supplements and Age-related Cataract (CTNS) Completed NCT00309387 Phase 3
8 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
9 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
10 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
11 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
12 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
13 Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
14 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
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 II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
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 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
19 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 NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
20 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
21 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
22 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
23 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
24 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
25 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
26 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
27 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
28 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
29 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
30 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
31 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
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 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
36 Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
37 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
38 A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations Not yet recruiting NCT04042831 Phase 2 Olaparib
39 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
40 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
41 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
42 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
43 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
44 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
45 A Pilot Trial of Oxandrolone for the Treatment of Bone Marrow Aplasia in Patients With Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
46 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
47 Gene Transfer From Patients With Fanconi Anemia, Genotype A: A Pilot Study Completed NCT00272857 Phase 1
48 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
49 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
50 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

Search NIH Clinical Center for Cystinosis, Nephropathic

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cysteamine

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:

41
Bone, Bone Marrow, Kidney, Eye, T Cells, Skin, Thyroid

Publications for Cystinosis, Nephropathic

Articles related to Cystinosis, Nephropathic:

(show top 50) (show all 434)
# 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. 9 38 8 71
10673275 2000
2
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 9 38 8 71
10556299 1999
3
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 38 8 71
10482956 1999
4
CTNS mutations in an American-based population of cystinosis patients. 38 8 71
9792862 1998
5
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 38 8 71
9537412 1998
6
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 8 71
12442267 2002
7
Cystinosis. 8 71
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. 9 38 71
11565547 2001
9
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 9 38 71
10625078 2000
10
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. 9 38 8
10417278 1999
11
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
12
Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. 38 8
17643777 2007
13
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. 38 8
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. 38 71
11505338 2001
15
Cystinosis 38 71
20301574 2001
16
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. 38 8
11001803 2000
17
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis. 38 8
8644713 1996
18
Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. 38 8
7593434 1995
19
Global intellectual deficits in cystinosis. 38 8
8172256 1994
20
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. 38 8
1552398 1992
21
Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts. 38 8
1546366 1992
22
Swallowing dysfunction in nephropathic cystinosis. 38 8
2381441 1990
23
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. 38 8
3185663 1988
24
NIH conference. Cystinosis: progress in a prototypic disease. 38 8
3048161 1988
25
Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. 38 8
3292915 1988
26
Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. 38 8
3335962 1988
27
Nephropathic cystinosis with central nervous system involvement. 38 8
3674101 1987
28
Pancreatic endocrine insufficiency in posttransplant cystinosis. 38 8
3307383 1987
29
An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. 38 8
3618595 1987
30
Cysteamine therapy for children with nephropathic cystinosis. 38 8
3550461 1987
31
Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. 38 8
3821824 1987
32
Long-term treatment of infantile nephropathic cystinosis with cysteamine. 38 8
4058549 1985
33
Association of certain human leukocyte antigens with nephropathic cystinosis in the absence of linkage between these loci. 38 8
7211839 1981
34
Effects of cysteamine therapy in nephropathic cystinosis. 38 8
7442733 1981
35
Endocrine studies in cystinosis: compensated primary hypothyroidism. 38 8
406375 1977
36
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 71
27734949 2016
37
LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. 8
22822152 2012
38
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 71
19863563 2009
39
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 71
15365816 2004
40
Mutational spectrum of the CTNS gene in Italy. 8
12825071 2003
41
Improved renal function in children with cystinosis treated with cysteamine. 8
8455682 1993
42
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 8
1937486 1991
43
First trimester diagnosis of cystinosis using intact chorionic villi. 8
3575264 1987
44
Prenatal diagnosis of cystinosis utilizing chorionic villus sampling. 8
3823003 1987
45
Therapy of cystinosis. 8
4058550 1985
46
Decreased sweat production in cystinosis. 8
6726525 1984
47
Lysosomal cystine counter-transport in heterozygotes for cystinosis. 8
6711558 1984
48
ATP-dependent lysosomal cystine efflux is defective in cystinosis. 8
6292178 1982
49
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. 8
7112129 1982
50
Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. 8
7078591 1982

Variations for Cystinosis, Nephropathic

ClinVar genetic disease variations for Cystinosis, Nephropathic:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTNS NM_001031681.2(CTNS): c.519_520del (p.Tyr173_Ser174delinsTer) deletion Pathogenic rs745365232 17:3559838-3559839 17:3656544-3656545
2 CTNS NM_001031681.2(CTNS): c.646dup (p.Thr216fs) duplication Pathogenic rs893207601 17:3560054-3560054 17:3656760-3656760
3 CTNS NC_000017.10: g.(?_3539712)_(3561489_?)del deletion Pathogenic 17:3539712-3561489 17:3636418-3658195
4 CTNS NM_001031681.2(CTNS): c.206_210del (p.Ile69fs) deletion Pathogenic rs879758262 17:3552206-3552210 17:3648912-3648916
5 CTNS NM_001031681.2(CTNS): c.771_793del (p.Gly258fs) deletion Pathogenic rs759623796 17:3561388-3561410 17:3658094-3658116
6 CTNS NM_001031681.2(CTNS): c.751_754delinsCG (p.Thr251fs) indel Pathogenic rs1555564051 17:3561368-3561371 17:3658074-3658077
7 CTNS NC_000017.10: g.(?_3539712)_(3560109_?)del deletion Pathogenic 17:3539712-3560109 17:3636418-3656815
8 CTNS NM_001031681.2(CTNS): c.681G> A (p.Glu227=) single nucleotide variant Pathogenic rs778414542 17:3560089-3560089 17:3656795-3656795
9 CTNS NM_001031681.2(CTNS): c.890G> A (p.Trp297Ter) single nucleotide variant Pathogenic rs917630768 17:3563189-3563189 17:3659895-3659895
10 CTNS NM_001031681.2(CTNS): c.283G> T (p.Gly95Ter) single nucleotide variant Pathogenic rs121908124 17:3558349-3558349 17:3655055-3655055
11 CTNS NM_001031681.2(CTNS): c.58_59TG[1] (p.Cys20_Glu21delinsTer) short repeat Pathogenic 17:3543558-3543559 17:3640264-3640265
12 CTNS NM_001031681.2(CTNS): c.414G> A (p.Trp138Ter) single nucleotide variant Pathogenic rs113994205 17:3558599-3558599 17:3655305-3655305
13 CTNS nsv1067862 deletion Pathogenic 17:3504228-3561459 17:3600934-3658165
14 CTNS NM_001031681.2(CTNS): c.506G> A (p.Gly169Asp) single nucleotide variant Pathogenic rs121908126 17:3559825-3559825 17:3656531-3656531
15 CTNS NM_001031681.2(CTNS): c.829dup (p.Thr277fs) duplication Pathogenic rs752919200 17:3561445-3561445 17:3658152-3658152
16 CTNS CTNS, -295G-C, PROMOTER single nucleotide variant Pathogenic
17 CTNS NM_001031681.2(CTNS): c.1015G> A (p.Gly339Arg) single nucleotide variant Pathogenic rs121908127 17:3563574-3563574 17:3660280-3660280
18 CTNS NM_001031681.2(CTNS): c.329G> T (p.Gly110Val) single nucleotide variant Pathogenic rs121908129 17:3558395-3558395 17:3655101-3655101
19 CTNS NM_001031681.2(CTNS): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs113994206 17:3559792-3559792 17:3656498-3656498
20 CTNS NM_001031681.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 17:3560021-3560021 17:3656727-3656727
21 CTNS NM_001031681.2(CTNS): c.696dup (p.Val233fs) duplication Pathogenic rs113994209 17:3561313-3561313 17:3658019-3658019
22 CTNS NM_001031681.2(CTNS): c.18_21del (p.Thr7fs) deletion Pathogenic rs786204501 17:3543518-3543521 17:3640224-3640227
23 CTNS NM_001031681.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 17:3563221-3563221 17:3659927-3659927
24 CTNS NC_000017.10: g.(?_3550738)_(3561469_?)del deletion Pathogenic 17:3550738-3561469 17:3647444-3658175
25 CTNS NM_001031681.2(CTNS): c.422C> T (p.Ser141Phe) single nucleotide variant Pathogenic 17:3558607-3558607 17:3655313-3655313
26 CTNS NM_001031681.2(CTNS): c.429C> A (p.Tyr143Ter) single nucleotide variant Pathogenic 17:3558614-3558614 17:3655320-3655320
27 CTNS NC_000017.10: g.(?_3550728)_(3552235_?)del deletion Pathogenic 17:3550728-3552235 17:3647434-3648941
28 CTNS NM_001031681.2(CTNS): c.140+1G> T single nucleotide variant Pathogenic 17:3550817-3550817 17:3647523-3647523
29 CTNS NC_000017.10: g.(?_3550718)_(3552245_?)del deletion Pathogenic 17:3550718-3552245 17:3647424-3648951
30 CTNS NC_000017.10: g.(?_3561289)_(3564038_?)del deletion Pathogenic 17:3561289-3564038 17:3657995-3660744
31 CTNS NM_001031681.2(CTNS): c.682-1G> T single nucleotide variant Pathogenic 17:3561298-3561298 17:3658004-3658004
32 CTNS NC_000017.10: g.(?_3539712)_(3561479_?)del deletion Pathogenic 17:3539712-3561479 17:3636418-3658185
33 CTNS NM_001031681.2(CTNS): c.198_218del (p.Ile67_Pro73del) deletion Pathogenic/Likely pathogenic rs113994204 17:3552198-3552218 17:3648904-3648924
34 CTNS NM_001031681.2(CTNS): c.926dup (p.Ser310fs) duplication Pathogenic/Likely pathogenic rs786204420 17:3563225-3563225 17:3659931-3659931
35 CTNS NM_001031681.2(CTNS): c.559_561+24del deletion Pathogenic/Likely pathogenic rs113994211 17:3559878-3559904 17:3656584-3656610
36 CTNS NM_001031681.2(CTNS): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113994207 17:3559997-3559997 17:3656703-3656703
37 CTNS NM_001031681.2(CTNS): c.853-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1475322504 17:3563150-3563150 17:3659856-3659856
38 CTNS NM_001031681.2(CTNS): c.971-12G> A single nucleotide variant Pathogenic/Likely pathogenic rs375952052 17:3563518-3563518 17:3660224-3660224
39 CTNS NM_001031681.2(CTNS): c.-19-1G> A single nucleotide variant Likely pathogenic rs1555558034 17:3543481-3543481 17:3640187-3640187
40 CTNS NM_001031681.2(CTNS): c.40del (p.Pro13_Leu14insTer) deletion Likely pathogenic rs1555558099 17:3543536-3543537 17:3640246-3640246
41 CTNS NM_001031681.2(CTNS): c.62-2A> G single nucleotide variant Likely pathogenic rs1555560637 17:3550736-3550736 17:3647442-3647442
42 CTNS NM_004937.2(CTNS): c.681+1delG deletion Likely pathogenic rs1555563658 17:3560088-3560089 17:3656796-3656796
43 CTNS NM_001031681.2(CTNS): c.20del (p.Thr7fs) deletion Likely pathogenic rs1555558078 17:3543519-3543520 17:3640226-3640226
44 CTNS NM_001031681.2(CTNS): c.320_323del (p.Asn107fs) deletion Likely pathogenic rs1555562830 17:3558383-3558387 17:3655092-3655095
45 CTNS NM_001031681.2(CTNS): c.61+1G> A single nucleotide variant Likely pathogenic rs1555558116 17:3543562-3543562 17:3640268-3640268
46 CTNS NM_001031681.2(CTNS): c.971-1dup duplication Likely pathogenic rs1555564823 17:3563528-3563528 17:3660235-3660235
47 CTNS NM_001031681.2(CTNS): c.225+1G> A single nucleotide variant Likely pathogenic rs1555561049 17:3552226-3552226 17:3648932-3648932
48 CTNS NM_001031681.2(CTNS): c.562-2_562-1del deletion Likely pathogenic rs1555563521 17:3559967-3559969 17:3656674-3656675
49 CTNS NM_001031681.2(CTNS): c.853-1G> A single nucleotide variant Likely pathogenic rs1555564588 17:3563151-3563151 17:3659857-3659857
50 CTNS NM_001031681.2(CTNS): c.869dup (p.Tyr290Ter) duplication Likely pathogenic rs1555564600 17:3563167-3563167 17:3659874-3659874

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

74 (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

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