CTNS
MCID: CYS036
MIFTS: 52

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 73
Ctns 57 53 75
Lysosomal Cystine Transport Protein, Defect of 57 53
Cystinosin, Defect of 57 53
Defect of Lysosomal Cystine Transport Protein 75
Nephropathic Infantile Cystinosis 59
Cystinosis Infantile Nephropathic 75
Cystinosis Atypical Nephropathic 75
Cystinosis, Nephropathic Type 75
Defect of Cystinosin 75
Fanconi Syndrome 73
Cystinosin 13

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:



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 cystinosis, late-onset juvenile or adolescent nephropathic type, 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 Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and skin, 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 : 75 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 all 46)
# Related Disease Score Top Affiliating Genes
1 cystinosis 32.0 CTNS SHPK TAX1BP3
2 cystinosis, late-onset juvenile or adolescent nephropathic type 11.5
3 cystinosis, adult nonnephropathic 11.4
4 lysosomal storage disease 11.3
5 fanconi syndrome 11.3
6 myopathy 10.5
7 diabetes insipidus, nephrogenic, autosomal 10.3
8 bartter disease 10.3
9 bone disease 10.3
10 kidney disease 10.3
11 diabetes insipidus 10.3
12 graft-versus-host disease 10.2
13 cataract 10.2
14 pneumocystosis 10.2
15 pneumonia 10.2
16 acute graft versus host disease 10.2
17 duane retraction syndrome 1 10.1
18 intracranial hypertension, idiopathic 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 hydrocephalus 10.1
21 liver disease 10.1
22 renal tubular acidosis 10.1
23 inflammatory bowel disease 10.1
24 miyoshi muscular dystrophy 10.1
25 rickets 10.1
26 portal hypertension 10.1
27 nephrocalcinosis 10.1
28 hyperparathyroidism 10.1
29 hypothyroidism 10.1
30 papilledema 10.1
31 cystic kidney disease 10.1
32 intracranial hypertension 10.1
33 cerebral atrophy 10.1
34 encephalopathy 10.1
35 hepatocellular carcinoma 9.9
36 lung cancer 9.9
37 lymphoma, hodgkin, classic 9.9
38 myocardial infarction 9.9
39 acute myocardial infarction 9.9
40 alcohol abuse 9.9
41 b-cell lymphomas 9.9
42 diffuse large b-cell lymphoma 9.9
43 gas gangrene 9.9
44 sickle cell disease 9.9
45 chronic graft versus host disease 9.9
46 haemophilus influenzae 9.9

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



Diseases related to Cystinosis, Nephropathic

Symptoms & Phenotypes for Cystinosis, Nephropathic

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
corneal crystals
recurrent corneal erosions
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 longterm 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

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 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 renal tubular dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000124
5 photophobia 59 32 very rare (1%) Very frequent (99-80%) HP:0000613
6 dehydration 59 32 very rare (1%) Very frequent (99-80%) HP:0001944
7 polydipsia 59 32 very rare (1%) Very frequent (99-80%) HP:0001959
8 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
9 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
10 rickets 59 32 very rare (1%) Very frequent (99-80%) HP:0002748
11 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
12 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
13 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
14 tubulointerstitial abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001969
15 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
16 pigmentary retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000580
17 abnormality of the cerebral white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002500
18 renal fanconi syndrome 59 32 very rare (1%) Very frequent (99-80%) HP:0001994
19 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
20 low-molecular-weight proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003126
21 abnormality of vitamin d metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100511
22 corneal crystals 59 32 hallmark (90%) Very frequent (99-80%) HP:0000531
23 hyperchloremic metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004918
24 abnormality of thyroid physiology 59 32 frequent (33%) Frequent (79-30%) HP:0002926
25 frontal bossing 32 HP:0002007
26 genu valgum 32 HP:0002857
27 diabetes mellitus 32 very rare (1%) HP:0000819
28 dysphagia 32 HP:0002015
29 cerebral calcification 32 very rare (1%) HP:0002514
30 splenomegaly 32 HP:0001744
31 hepatomegaly 32 HP:0002240
32 delayed skeletal maturation 32 HP:0002750
33 short stature 32 HP:0004322
34 blindness 32 very rare (1%) HP:0000618
35 renal insufficiency 32 very rare (1%) HP:0000083
36 proteinuria 32 HP:0000093
37 retinopathy 32 HP:0000488
38 delayed puberty 32 HP:0000823
39 myopathy 32 very rare (1%) HP:0003198
40 skeletal muscle atrophy 32 HP:0003202
41 hypohidrosis 32 HP:0000966
42 failure to thrive in infancy 32 HP:0001531
43 exocrine pancreatic insufficiency 32 HP:0001738
44 hypopigmentation of hair 32 HP:0005599
45 male hypogonadism 32 very rare (1%) HP:0000026
46 nephrolithiasis 32 HP:0000787
47 hyponatremia 32 HP:0002902
48 retinal pigment epithelial mottling 32 HP:0007814
49 male infertility 32 HP:0003251
50 acidosis 59 Very frequent (99-80%)

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 all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antiviral Agents Phase 4
3 Anti-Infective Agents Phase 4
4 Free Radical Scavengers Phase 4
5 Antioxidants Phase 4
6 Expectorants Phase 4
7 Respiratory System Agents Phase 4
8 Antidotes Phase 4
9 cysteine Phase 4
10 N-monoacetylcystine Phase 4
11 Protective Agents Phase 4
12
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
13
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
14
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
15 Sympathomimetics Phase 2
16 Autonomic Agents Phase 2
17 Dopamine Agents Phase 2
18 Neurotransmitter Uptake Inhibitors Phase 2
19 Central Nervous System Stimulants Phase 2
20 Pharmaceutical Solutions Phase 2,Not Applicable
21 Peripheral Nervous System Agents Phase 2
22 Neurotransmitter Agents Phase 2
23 Ophthalmic Solutions Phase 2,Not Applicable
24 Adrenergic Agents Phase 2
25 Dopamine Uptake Inhibitors Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
3 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
4 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
5 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules
6 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
7 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
8 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
9 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Not Applicable Cysteamine
10 Kidney Transplantation in Patients With Cystinosis Completed NCT00074516
11 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
12 Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™ Completed NCT01432561 Not Applicable Cysteamine bitartrate
13 Cure Cystinosis International Registry Recruiting NCT01327807

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:

41
Kidney, Eye, Skin, Bone, Thyroid, Liver, Skeletal Muscle

Publications for Cystinosis, Nephropathic

Articles related to Cystinosis, Nephropathic:

(show top 50) (show all 224)
# Title Authors Year
1
Ocular changes in nephropathic cystinosis: The course of the gold-dust. ( 29916124 )
2018
2
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. ( 29594088 )
2018
3
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
4
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
5
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
6
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. ( 29549422 )
2018
7
Skeletal Consequences of Nephropathic Cystinosis. ( 29905968 )
2018
8
Unrecognized juvenile nephropathic cystinosis. ( 30348293 )
2018
9
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. ( 30413946 )
2018
10
Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis. ( 30450477 )
2018
11
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease. ( 30465592 )
2018
12
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
13
Nephropathic cystinosis: an update. ( 28107209 )
2017
14
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
15
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
16
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
17
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
18
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
19
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
20
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
21
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. ( 28638260 )
2017
22
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
23
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
24
Altered mTOR signalling in nephropathic cystinosis. ( 26909499 )
2016
25
Controversies and research agenda in nephropathic cystinosis: conclusions from a &amp;quot;Kidney Disease: Improving Global Outcomes&amp;quot; (KDIGO) Controversies Conference. ( 27181776 )
2016
26
Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis. ( 27215258 )
2016
27
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2016
28
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. ( 27493869 )
2016
29
The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 26580242 )
2015
30
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. ( 26565940 )
2015
31
Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study. ( 26024106 )
2015
32
Cysteamine in renal transplantation: A report of two patients with nephropathic cystinosis and the successful re-initiation of cysteamine therapy during the immediate post-transplant period. ( 26477696 )
2015
33
Hirschsprung's disease with infantile nephropathic cystinosis. ( 26166990 )
2015
34
Chiari I Malformation in Nephropathic Cystinosis. ( 26265281 )
2015
35
The Swan-Neck Lesion: Proximal Tubular Adaptation to Oxidative Stress in Nephropathic Cystinosis. ( 25694483 )
2015
36
Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria. ( 25954677 )
2015
37
Successful management of a neglected case of nephropathic cystinosis. ( 24790750 )
2014
38
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. ( 25407738 )
2014
39
Nephropathic cystinosis: an international consensus document. ( 25165189 )
2014
40
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. ( 24319100 )
2014
41
Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. ( 24948347 )
2014
42
Cystic kidney disease: Intracellular clusterin implicated in nephropathic cystinosis. ( 25112440 )
2014
43
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. ( 25071085 )
2014
44
Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis. ( 25394439 )
2014
45
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. ( 24464559 )
2014
46
Nephropathic cystinosis--a gap between developing and developed nations. ( 24693916 )
2014
47
Improving the prognosis of nephropathic cystinosis. ( 25114580 )
2014
48
Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I. ( 27928278 )
2014
49
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. ( 23775203 )
2013
50
Executive function in nephropathic cystinosis. ( 23538568 )
2013

Variations for Cystinosis, Nephropathic

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

75 (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
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 rs132795900
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 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

ClinVar genetic disease variations for Cystinosis, Nephropathic:

6 (show top 50) (show all 392)
# 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 NM_001031681.2(CTNS): c.283G> T (p.Gly95Ter) single nucleotide variant Pathogenic rs121908124 GRCh38 Chromosome 17, 3655055: 3655055
3 CTNS CTNS, 2-BP DEL, 397TG deletion Pathogenic
4 CTNS NM_004937.2(CTNS): c.414G> A (p.Trp138Ter) single nucleotide variant Pathogenic rs113994205 GRCh37 Chromosome 17, 3558599: 3558599
5 CTNS NM_004937.2(CTNS): c.414G> A (p.Trp138Ter) single nucleotide variant Pathogenic rs113994205 GRCh38 Chromosome 17, 3655305: 3655305
6 CTNS CTNS, 4-BP DEL, 18GACT deletion Pathogenic
7 CTNS NC_000017.11: g.3600934_3658165del57232 deletion Pathogenic GRCh37 Chromosome 17, 3504228: 3561459
8 CTNS NC_000017.11: g.3600934_3658165del57232 deletion Pathogenic GRCh38 Chromosome 17, 3600934: 3658165
9 CTNS NM_001031681.2(CTNS): c.506G> A (p.Gly169Asp) single nucleotide variant Pathogenic rs121908126 GRCh37 Chromosome 17, 3559825: 3559825
10 CTNS NM_001031681.2(CTNS): c.506G> A (p.Gly169Asp) single nucleotide variant Pathogenic rs121908126 GRCh38 Chromosome 17, 3656531: 3656531
11 CTNS NM_004937.2(CTNS): c.124G> A (p.Val42Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35086888 GRCh37 Chromosome 17, 3550800: 3550800
12 CTNS NM_004937.2(CTNS): c.124G> A (p.Val42Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35086888 GRCh38 Chromosome 17, 3647506: 3647506
13 CTNS CTNS, 5-BP DEL, NT545 deletion Pathogenic
14 CTNS NM_004937.2(CTNS): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs113994207 GRCh37 Chromosome 17, 3559997: 3559997
15 CTNS NM_004937.2(CTNS): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs113994207 GRCh38 Chromosome 17, 3656703: 3656703
16 CTNS CTNS, -295G-C, PROMOTER single nucleotide variant Pathogenic
17 CTNS NM_004937.2(CTNS): c.1015G> A (p.Gly339Arg) single nucleotide variant Pathogenic rs121908127 GRCh37 Chromosome 17, 3563574: 3563574
18 CTNS NM_004937.2(CTNS): c.1015G> A (p.Gly339Arg) single nucleotide variant Pathogenic rs121908127 GRCh38 Chromosome 17, 3660280: 3660280
19 CTNS NM_001031681.2(CTNS): c.329G> T (p.Gly110Val) single nucleotide variant Pathogenic rs121908129 GRCh37 Chromosome 17, 3558395: 3558395
20 CTNS NM_001031681.2(CTNS): c.329G> T (p.Gly110Val) single nucleotide variant Pathogenic rs121908129 GRCh38 Chromosome 17, 3655101: 3655101
21 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
22 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Likely pathogenic rs267606754 GRCh38 Chromosome 17, 3655307: 3655307
23 CTNS NM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs113994204 GRCh37 Chromosome 17, 3552198: 3552218
24 CTNS NM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs113994204 GRCh38 Chromosome 17, 3648904: 3648924
25 CTNS NM_004937.2(CTNS): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs113994206 GRCh37 Chromosome 17, 3559792: 3559792
26 CTNS NM_004937.2(CTNS): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs113994206 GRCh38 Chromosome 17, 3656498: 3656498
27 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh37 Chromosome 17, 3560021: 3560021
28 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh38 Chromosome 17, 3656727: 3656727
29 CTNS NM_004937.2(CTNS): c.696dupC (p.Val233Argfs) duplication Pathogenic rs113994209 GRCh37 Chromosome 17, 3561313: 3561313
30 CTNS NM_004937.2(CTNS): c.696dupC (p.Val233Argfs) duplication Pathogenic rs113994209 GRCh38 Chromosome 17, 3658019: 3658019
31 CTNS NM_004937.2(CTNS): c.559_561+24del27 deletion Pathogenic/Likely pathogenic rs113994211 GRCh37 Chromosome 17, 3559878: 3559904
32 CTNS NM_004937.2(CTNS): c.559_561+24del27 deletion Pathogenic/Likely pathogenic rs113994211 GRCh38 Chromosome 17, 3656584: 3656610
33 CTNS; TRPV1 NM_080704.3(TRPV1): c.-34+7395T> C single nucleotide variant Benign rs161380 GRCh37 Chromosome 17, 3504326: 3504326
34 CTNS; TRPV1 NM_080704.3(TRPV1): c.-34+7395T> C single nucleotide variant Benign rs161380 GRCh38 Chromosome 17, 3601032: 3601032
35 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh37 Chromosome 17, 3543518: 3543521
36 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh38 Chromosome 17, 3640224: 3640227
37 CTNS NM_001031681.2(CTNS): c.199_219del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs786204550 GRCh37 Chromosome 17, 3552199: 3552219
38 CTNS NM_001031681.2(CTNS): c.199_219del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs786204550 GRCh38 Chromosome 17, 3648905: 3648925
39 CTNS NM_004937.2(CTNS): c.225+5_225+6delGTinsCC indel Likely pathogenic rs786204541 GRCh37 Chromosome 17, 3552230: 3552231
40 CTNS NM_004937.2(CTNS): c.225+5_225+6delGTinsCC indel Likely pathogenic rs786204541 GRCh38 Chromosome 17, 3648936: 3648937
41 CTNS NM_004937.2(CTNS): c.292dupA (p.Thr98Asnfs) duplication Likely pathogenic rs786204434 GRCh37 Chromosome 17, 3558358: 3558358
42 CTNS NM_004937.2(CTNS): c.292dupA (p.Thr98Asnfs) duplication Likely pathogenic rs786204434 GRCh38 Chromosome 17, 3655064: 3655064
43 CTNS NM_004937.2(CTNS): c.561+1delG deletion Likely pathogenic rs786204667 GRCh37 Chromosome 17, 3559881: 3559881
44 CTNS NM_004937.2(CTNS): c.561+1delG deletion Likely pathogenic rs786204667 GRCh38 Chromosome 17, 3656587: 3656587
45 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
46 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Likely pathogenic rs760256854 GRCh38 Chromosome 17, 3656728: 3656730
47 CTNS NM_004937.2(CTNS): c.809_811delCCT (p.Ser270del) deletion Likely pathogenic rs786204632 GRCh37 Chromosome 17, 3561426: 3561428
48 CTNS NM_004937.2(CTNS): c.809_811delCCT (p.Ser270del) deletion Likely pathogenic rs786204632 GRCh38 Chromosome 17, 3658132: 3658134
49 CTNS NM_004937.2(CTNS): c.926dupG (p.Ser310Glnfs) duplication Likely pathogenic rs786204420 GRCh37 Chromosome 17, 3563225: 3563225
50 CTNS NM_004937.2(CTNS): c.926dupG (p.Ser310Glnfs) duplication Likely pathogenic rs786204420 GRCh38 Chromosome 17, 3659931: 3659931

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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