CTNS
MCID: CYS036
MIFTS: 41

Cystinosis, Nephropathic (CTNS) malady

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

Aliases & Classifications for Cystinosis, Nephropathic

Aliases & Descriptions for Cystinosis, Nephropathic:

Name: Cystinosis, Nephropathic 54 52
Nephropathic Cystinosis 50 24 69
Cystinosis, Atypical Nephropathic 54 13
Cystinosis Atypical Nephropathic 66 29
Cystinosis, Nephropathic Type 66 29
Ctns 50 66
Lysosomal Cystine Transport Protein, Defect of 50
Defect of Lysosomal Cystine Transport Protein 66
Cystinosis, Infantile/early Onset/classic 24
Cystinosis, Infantile Nephropathic Type 24
Nephropathic Infantile Cystinosis 56
Cystinosis Infantile Nephropathic 66
Cystinosin, Defect of 50
Defect of Cystinosin 66
Fanconi Syndrome 69
Cystinosin 13

Characteristics:

Orphanet epidemiological data:

56
nephropathic infantile cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: adult;

HPO:

32
cystinosis, nephropathic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 219800
Orphanet 56 ORPHA411629
ICD10 via Orphanet 34 E72.0+ N16.3*
MeSH 42 D003554

Summaries for Cystinosis, Nephropathic

OMIM : 54 Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to... (219800) more...

MalaCards based summary : Cystinosis, Nephropathic, also known as nephropathic cystinosis, is related to non-nephropathic cystinosis and cystinosis, and has symptoms including constipation, photophobia and vomiting. An important gene associated with Cystinosis, Nephropathic is CTNS (Cystinosin, Lysosomal Cystine Transporter). The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and skin.

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

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 non-nephropathic cystinosis 12.1
2 cystinosis 11.9
3 fanconi syndrome 11.2
4 cystinosis, ocular nonnephropathic 11.1

Symptoms & Phenotypes for Cystinosis, Nephropathic

Symptoms by clinical synopsis from OMIM:

219800

Clinical features from OMIM:

219800

Human phenotypes related to Cystinosis, Nephropathic:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Very frequent (99-80%) HP:0002019
2 photophobia 56 32 Very frequent (99-80%) HP:0000613
3 vomiting 56 32 Very frequent (99-80%) HP:0002013
4 polydipsia 56 32 Very frequent (99-80%) HP:0001959
5 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
6 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
7 renal tubular dysfunction 56 32 Very frequent (99-80%) HP:0000124
8 dehydration 56 32 Very frequent (99-80%) HP:0001944
9 hypophosphatemia 56 32 Very frequent (99-80%) HP:0002148
10 rickets 56 32 Very frequent (99-80%) HP:0002748
11 hypokalemia 56 32 Very frequent (99-80%) HP:0002900
12 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
13 growth delay 56 32 Very frequent (99-80%) HP:0001510
14 tubulointerstitial abnormality 56 32 Very frequent (99-80%) HP:0001969
15 glycosuria 56 32 Very frequent (99-80%) HP:0003076
16 pigmentary retinopathy 56 32 Frequent (79-30%) HP:0000580
17 abnormality of the cerebral white matter 56 32 Occasional (29-5%) HP:0002500
18 renal fanconi syndrome 56 32 Very frequent (99-80%) HP:0001994
19 hyperphosphaturia 56 32 Very frequent (99-80%) HP:0003109
20 low-molecular-weight proteinuria 56 32 Very frequent (99-80%) HP:0003126
21 abnormality of vitamin d metabolism 56 32 Very frequent (99-80%) HP:0100511
22 corneal crystals 56 32 Very frequent (99-80%) HP:0000531
23 hyperchloremic metabolic acidosis 56 32 Very frequent (99-80%) HP:0004918
24 abnormality of thyroid physiology 56 32 Frequent (79-30%) HP:0002926
25 polyuria 32 HP:0000103
26 frontal bossing 32 HP:0002007
27 genu valgum 32 HP:0002857
28 diabetes mellitus 32 HP:0000819
29 dysphagia 32 HP:0002015
30 splenomegaly 32 HP:0001744
31 hepatomegaly 32 HP:0002240
32 delayed skeletal maturation 32 HP:0002750
33 visual impairment 32 HP:0000505
34 short stature 32 HP:0004322
35 renal insufficiency 32 HP:0000083
36 proteinuria 32 HP:0000093
37 delayed puberty 32 HP:0000823
38 myopathy 32 HP:0003198
39 skeletal muscle atrophy 32 HP:0003202
40 hypohidrosis 32 HP:0000966
41 reduced visual acuity 32 HP:0007663
42 exocrine pancreatic insufficiency 32 HP:0001738
43 hypopigmentation of hair 32 HP:0005599
44 abnormality of the voice 32 HP:0001608
45 nephrolithiasis 32 HP:0000787
46 hyponatremia 32 HP:0002902
47 failure to thrive in infancy 32 HP:0001531
48 male infertility 32 HP:0003251
49 acidosis 56 Very frequent (99-80%)
50 cerebral atrophy 32 HP:0002059

UMLS symptoms related to Cystinosis, Nephropathic:


polyuria, polydipsia, photophobia

Drugs & Therapeutics for Cystinosis, Nephropathic

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

(show top 50) (show all 114)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
4 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
5 Protective Agents Phase 4,Phase 2,Phase 1
6 Antidotes Phase 4
7 Antioxidants Phase 4,Phase 1
8 Expectorants Phase 4
9 N-monoacetylcystine Phase 4
10 Respiratory System Agents Phase 4
11 cysteine Nutraceutical Phase 4
12
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
13
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
15
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
16
Vidarabine Approved Phase 2, Phase 3,Phase 1 24356-66-9 32326 21704
17
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
18
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
20
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
21
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
22 Alkylating Agents Phase 2, Phase 3, Phase 1
23 Antimetabolites Phase 2, Phase 3, Phase 1
24 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1
25 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1
26 Antirheumatic Agents Phase 2, Phase 3, Phase 1
27 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
28 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
29 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
30 Antifungal Agents Phase 2, Phase 3,Phase 1
31
Melphalan Approved Phase 2 148-82-3 4053 460612
32
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
34
Lenograstim Approved Phase 1, Phase 2 135968-09-1
35
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
36
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
37
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
38
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
39
Iron Approved Phase 2 7439-89-6 23925
40
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
41
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
42 Antiemetics Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 2,Phase 1
44 Antilymphocyte Serum Phase 2,Phase 1
45 Antineoplastic Agents, Hormonal Phase 2,Phase 1
46 Autonomic Agents Phase 2,Phase 1
47 Gastrointestinal Agents Phase 2,Phase 1
48 glucocorticoids Phase 2,Phase 1
49 Hormone Antagonists Phase 2,Phase 1
50 Hormones Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 80)
id Name Status NCT ID Phase
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4
2 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
3 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4
4 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
5 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3
6 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3
7 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3
8 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Active, not recruiting NCT01733316 Phase 3
9 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Active, not recruiting NCT01197378 Phase 3
10 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
11 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2
12 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2
13 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2
14 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2
15 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2
16 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2
17 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
18 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
19 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
20 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2
21 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
22 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2
23 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2
24 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2
25 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2
26 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2
27 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2
28 Hematopoietic Stem Cell Transplant for Fanconi Anemia Active, not recruiting NCT01071239 Phase 2
29 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 Active, not recruiting NCT00987480 Phase 2
30 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2
31 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2
32 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
33 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2
34 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2
35 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1
36 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
37 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1
38 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1
39 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
40 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1
41 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1
42 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1
43 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1
44 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1
45 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
46 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
47 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
48 Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation Unknown status NCT01316549
49 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
50 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903

Search NIH Clinical Center for Cystinosis, Nephropathic

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


Genetic Tests for Cystinosis, Nephropathic

Genetic tests related to Cystinosis, Nephropathic:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis 29 24 CTNS
2 Cystinosis, Atypical Nephropathic 29

Anatomical Context for Cystinosis, Nephropathic

MalaCards organs/tissues related to Cystinosis, Nephropathic:

39
Eye, Kidney, Skin, Thyroid, Skeletal Muscle

Publications for Cystinosis, Nephropathic

Articles related to Cystinosis, Nephropathic:

id Title Authors Year
1
What's your diagnosis? Cystinosis (nephropathic cystinosis). ( 16761632 )
2006

Variations for Cystinosis, Nephropathic

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

66 (show all 25)
id Symbol AA change Variation ID SNP ID
1 CTNS p.Gly169Asp VAR_010286 rs121908126
2 CTNS p.Ile133Phe VAR_010677
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
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
14 CTNS p.Gly110Val VAR_037318 rs121908129
15 CTNS p.Gln222Arg VAR_037321
16 CTNS p.Asn288Lys VAR_037322
17 CTNS p.Arg151Gly VAR_067490
18 CTNS p.Gly157Asp VAR_067491
19 CTNS p.Tyr173Cys VAR_067492
20 CTNS p.Asn177Ser VAR_067493
21 CTNS p.Met287Ile VAR_067494
22 CTNS p.Gly308Val VAR_067495
23 CTNS p.Gly309Asp VAR_067496
24 CTNS p.Gly337Arg VAR_067497
25 CTNS p.Leu338Arg VAR_067498

ClinVar genetic disease variations for Cystinosis, Nephropathic:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_001031681.2(CTNS): c.283G> T (p.Gly95Ter) single nucleotide variant Pathogenic rs121908124 GRCh37 Chromosome 17, 3558349: 3558349
2 CTNS CTNS, 2-BP DEL, 397TG deletion Pathogenic
3 CTNS NM_004937.2(CTNS): c.414G> A (p.Trp138Ter) single nucleotide variant Pathogenic rs113994205 GRCh37 Chromosome 17, 3558599: 3558599
4 CTNS CTNS, 4-BP DEL, 18GACT deletion Pathogenic
5 CTNS NC_000017.11: g.3600934_3658165del57232 deletion Pathogenic GRCh37 Chromosome 17, 3504228: 3561459
6 CTNS NM_001031681.2(CTNS): c.506G> A (p.Gly169Asp) single nucleotide variant Pathogenic rs121908126 GRCh37 Chromosome 17, 3559825: 3559825
7 CTNS CTNS, 5-BP DEL, NT545 deletion Pathogenic
8 CTNS NM_004937.2(CTNS): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113994207 GRCh37 Chromosome 17, 3559997: 3559997
9 CTNS CTNS, -295G-C single nucleotide variant Pathogenic
10 CTNS NM_004937.2(CTNS): c.1015G> A (p.Gly339Arg) single nucleotide variant Pathogenic rs121908127 GRCh37 Chromosome 17, 3563574: 3563574
11 CTNS NM_001031681.2(CTNS): c.329G> T (p.Gly110Val) single nucleotide variant Pathogenic rs121908129 GRCh37 Chromosome 17, 3558395: 3558395
12 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
13 CTNS NM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del) deletion Pathogenic/Likely pathogenic rs113994204 GRCh37 Chromosome 17, 3552198: 3552218
14 CTNS NM_004937.2(CTNS): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs113994206 GRCh37 Chromosome 17, 3559792: 3559792
15 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh37 Chromosome 17, 3560021: 3560021
16 CTNS NM_004937.2(CTNS): c.696dupC (p.Val233Argfs) duplication Pathogenic rs113994209 GRCh37 Chromosome 17, 3561313: 3561313
17 CTNS NM_004937.2(CTNS): c.559_561+24del27 deletion Pathogenic/Likely pathogenic rs113994211 GRCh37 Chromosome 17, 3559878: 3559904
18 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh37 Chromosome 17, 3543518: 3543521
19 CTNS NM_001031681.2(CTNS): c.199_219del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs786204550 GRCh37 Chromosome 17, 3552199: 3552219
20 CTNS NM_004937.2(CTNS): c.225+5_225+6delGTinsCC indel Likely pathogenic rs786204541 GRCh37 Chromosome 17, 3552230: 3552231
21 CTNS NM_004937.2(CTNS): c.292dupA (p.Thr98Asnfs) duplication Likely pathogenic rs786204434 GRCh37 Chromosome 17, 3558358: 3558358
22 CTNS NM_004937.2(CTNS): c.561+1delG deletion Likely pathogenic rs786204667 GRCh37 Chromosome 17, 3559881: 3559881
23 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Pathogenic/Likely pathogenic rs786204423 GRCh37 Chromosome 17, 3560022: 3560024
24 CTNS NM_004937.2(CTNS): c.809_811delCCT (p.Ser270del) deletion Likely pathogenic rs786204632 GRCh37 Chromosome 17, 3561426: 3561428
25 CTNS NM_004937.2(CTNS): c.926dupG (p.Ser310Glnfs) duplication Likely pathogenic rs786204420 GRCh37 Chromosome 17, 3563225: 3563225
26 CTNS NM_004937.2(CTNS): c.251delA (p.Asn84Thrfs) deletion Likely pathogenic rs1057516296 GRCh37 Chromosome 17, 3558317: 3558317
27 CTNS NM_004937.2(CTNS): c.329+2T> C single nucleotide variant Likely pathogenic rs955833453 GRCh38 Chromosome 17, 3655103: 3655103
28 CTNS NM_004937.2(CTNS): c.519_520delCA (p.Tyr173Terfs) deletion Pathogenic rs1057517093 GRCh37 Chromosome 17, 3559838: 3559839
29 CTNS NM_004937.2(CTNS): c.646dupA (p.Thr216Asnfs) duplication Pathogenic rs1057516993 GRCh37 Chromosome 17, 3560054: 3560054
30 CTNS NM_004937.2(CTNS): c.681+2T> C single nucleotide variant Likely pathogenic rs1057516723 GRCh38 Chromosome 17, 3656797: 3656797
31 CTNS NM_004937.2(CTNS): c.682-1G> A single nucleotide variant Likely pathogenic rs1057516771 GRCh37 Chromosome 17, 3561298: 3561298
32 CTNS NM_004937.2(CTNS): c.734G> A (p.Trp245Ter) single nucleotide variant Likely pathogenic rs763089013 GRCh38 Chromosome 17, 3658057: 3658057
33 CTNS NM_004937.2(CTNS): c.1102T> C (p.Ter368Gln) single nucleotide variant Likely pathogenic rs1057517330 GRCh37 Chromosome 17, 3563661: 3563661

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
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
Content
Loading form....