MCID: CYS036
MIFTS: 47

Cystinosis, Nephropathic

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

Aliases & Classifications for Cystinosis, Nephropathic

MalaCards integrated aliases for Cystinosis, Nephropathic:

Name: Cystinosis, Nephropathic 53 51
Cystinosis, Atypical Nephropathic 53 28 13
Nephropathic Cystinosis 49 28 69
Ctns 53 49 71
Lysosomal Cystine Transport Protein, Defect of 53 49
Cystinosin, Defect of 53 49
Defect of Lysosomal Cystine Transport Protein 71
Nephropathic Infantile Cystinosis 55
Cystinosis Infantile Nephropathic 71
Cystinosis Atypical Nephropathic 71
Cystinosis, Nephropathic Type 71
Defect of Cystinosin 71
Fanconi Syndrome 69
Cystinosin 13

Characteristics:

Orphanet epidemiological data:

55
nephropathic infantile cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: adult;

OMIM:

53
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:



Summaries for Cystinosis, Nephropathic

OMIM : 53 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, late-onset juvenile or adolescent nephropathic type 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 Acetylcysteine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and skin.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

Related Diseases for Cystinosis, Nephropathic

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

# Related Disease Score Top Affiliating Genes
1 cystinosis, late-onset juvenile or adolescent nephropathic type 12.2
2 cystinosis 12.0
3 fanconi syndrome 11.3
4 cystinosis, adult nonnephropathic 11.2

Symptoms & Phenotypes for Cystinosis, Nephropathic

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
photophobia
corneal crystals
recurrent corneal erosions
decreased visual acuity
peripheral retinopathy

Head And Neck Face:
frontal bossing

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
proteinuria
hypophosphatemia
hyponatremia
microscopic hematuria
generalized aminoaciduria
more
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

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

Skeletal Limbs:
genu valgum
metaphyseal widening

Abdomen Liver:
hepatomegaly

Endocrine Features:
delayed puberty
primary hypothyroidism
insulin dependent diabetes mellitus

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

Chest RibsSternum 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:

55 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002013
4 polydipsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001959
5 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
7 renal tubular dysfunction 55 31 hallmark (90%) Very frequent (99-80%) HP:0000124
8 dehydration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001944
9 hypophosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002148
10 rickets 55 31 hallmark (90%) Very frequent (99-80%) HP:0002748
11 hypokalemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002900
12 aminoaciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003355
13 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
14 tubulointerstitial abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0001969
15 glycosuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003076
16 pigmentary retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000580
17 abnormality of the cerebral white matter 55 31 occasional (7.5%) Occasional (29-5%) HP:0002500
18 renal fanconi syndrome 55 31 hallmark (90%) Very frequent (99-80%) HP:0001994
19 hyperphosphaturia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003109
20 low-molecular-weight proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003126
21 abnormality of vitamin d metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0100511
22 corneal crystals 55 31 hallmark (90%) Very frequent (99-80%) HP:0000531
23 hyperchloremic metabolic acidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004918
24 abnormality of thyroid physiology 55 31 frequent (33%) Frequent (79-30%) HP:0002926
25 polyuria 31 HP:0000103
26 frontal bossing 31 HP:0002007
27 genu valgum 31 HP:0002857
28 diabetes mellitus 31 HP:0000819
29 dysphagia 31 HP:0002015
30 splenomegaly 31 HP:0001744
31 hepatomegaly 31 HP:0002240
32 delayed skeletal maturation 31 HP:0002750
33 visual impairment 31 HP:0000505
34 short stature 31 HP:0004322
35 renal insufficiency 31 HP:0000083
36 proteinuria 31 HP:0000093
37 delayed puberty 31 HP:0000823
38 myopathy 31 HP:0003198
39 skeletal muscle atrophy 31 HP:0003202
40 hypohidrosis 31 HP:0000966
41 failure to thrive in infancy 31 HP:0001531
42 reduced visual acuity 31 HP:0007663
43 exocrine pancreatic insufficiency 31 HP:0001738
44 hypopigmentation of hair 31 HP:0005599
45 abnormality of the voice 31 HP:0001608
46 nephrolithiasis 31 HP:0000787
47 hyponatremia 31 HP:0002902
48 male infertility 31 HP:0003251
49 acidosis 55 Very frequent (99-80%)
50 cerebral atrophy 31 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 all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antidotes Phase 4
3 Anti-Infective Agents Phase 4
4 Antioxidants Phase 4
5 Antiviral Agents Phase 4
6 Expectorants Phase 4
7 N-monoacetylcystine Phase 4
8 Protective Agents Phase 4
9 Respiratory System Agents Phase 4
10 cysteine Nutraceutical Phase 4
11
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2 60-23-1 6058
12
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
13
Methamphetamine Approved, Illicit Phase 2 537-46-2 10836
14 Adrenergic Agents Phase 2
15 Autonomic Agents Phase 2
16 Central Nervous System Stimulants Phase 2
17 Dopamine Agents Phase 2
18 Dopamine Uptake Inhibitors Phase 2
19 Neurotransmitter Agents Phase 2
20 Neurotransmitter Uptake Inhibitors Phase 2
21 Ophthalmic Solutions Phase 2
22 Peripheral Nervous System Agents Phase 2
23 Pharmaceutical Solutions Phase 2
24 Tetrahydrozoline Phase 2

Interventional clinical trials:

(show all 14)

# 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 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
4 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
5 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
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 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 Cysteamine bitartrate
13 Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease Recruiting NCT02837523
14 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 28 CTNS
2 Cystinosis, Atypical Nephropathic 28

Anatomical Context for Cystinosis, Nephropathic

MalaCards organs/tissues related to Cystinosis, Nephropathic:

38
Kidney, Eye, Skin, Bone, Skeletal Muscle, Thyroid

Publications for Cystinosis, Nephropathic

Articles related to Cystinosis, Nephropathic:

(show top 50) (show all 212)
# Title Authors Year
1
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
2
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
3
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
4
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
5
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
6
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
7
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
8
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
9
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
10
Nephropathic cystinosis: an update. ( 28107209 )
2017
11
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
12
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
13
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. ( 28638260 )
2017
14
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
15
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2016
16
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27181776 )
2016
17
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis. ( 27493869 )
2016
18
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
19
Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis. ( 27215258 )
2016
20
Altered mTOR signalling in nephropathic cystinosis. ( 26909499 )
2016
21
Chiari I Malformation in Nephropathic Cystinosis. ( 26265281 )
2015
22
Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study. ( 26024106 )
2015
23
Hirschsprung's disease with infantile nephropathic cystinosis. ( 26166990 )
2015
24
Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria. ( 25954677 )
2015
25
The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 26580242 )
2015
26
The Swan-Neck Lesion: Proximal Tubular Adaptation to Oxidative Stress in Nephropathic Cystinosis. ( 25694483 )
2015
27
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
28
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. ( 26565940 )
2015
29
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
30
Successful management of a neglected case of nephropathic cystinosis. ( 24790750 )
2014
31
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. ( 25071085 )
2014
32
Improving the prognosis of nephropathic cystinosis. ( 25114580 )
2014
33
Nephropathic cystinosis: an international consensus document. ( 25165189 )
2014
34
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. ( 24319100 )
2014
35
Cystic kidney disease: Intracellular clusterin implicated in nephropathic cystinosis. ( 25112440 )
2014
36
Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis. ( 25394439 )
2014
37
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. ( 25407738 )
2014
38
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. ( 24464559 )
2014
39
Nephropathic cystinosis--a gap between developing and developed nations. ( 24693916 )
2014
40
Nephropathic cystinosis in a developing country: the Egyptian experience. ( 23354215 )
2013
41
N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis. ( 24326786 )
2013
42
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. ( 23775203 )
2013
43
Executive function in nephropathic cystinosis. ( 23538568 )
2013
44
Suppository formulations as a potential treatment for nephropathic cystinosis. ( 22778070 )
2012
45
A potential new method to estimate tissue cystine content in nephropathic cystinosis. ( 22513268 )
2012
46
Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. ( 21900880 )
2012
47
Follow-up and treatment of renal transplantation with nephropathic cystinosis in central Taiwan. ( 22310585 )
2012
48
Urgent ophthalmic examination for renal tubular acidosis. Infantile nephropathic cystinosis. ( 24132690 )
2012
49
p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis. ( 22714671 )
2012
50
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. ( 22554716 )
2012

Variations for Cystinosis, Nephropathic

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

71 (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
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 all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del) deletion Pathogenic/Likely pathogenic rs113994204 GRCh37 Chromosome 17, 3552198: 3552218
2 CTNS NM_004937.2(CTNS): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs113994206 GRCh37 Chromosome 17, 3559792: 3559792
3 CTNS NM_004937.2(CTNS): c.613G> A (p.Asp205Asn) single nucleotide variant Pathogenic rs113994208 GRCh37 Chromosome 17, 3560021: 3560021
4 CTNS NM_004937.2(CTNS): c.696dupC (p.Val233Argfs) duplication Pathogenic rs113994209 GRCh37 Chromosome 17, 3561313: 3561313
5 CTNS NM_004937.2(CTNS): c.559_561+24del27 deletion Pathogenic/Likely pathogenic rs113994211 GRCh37 Chromosome 17, 3559878: 3559904
6 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh38 Chromosome 17, 3640224: 3640227
7 CTNS NM_001031681.2(CTNS): c.199_219del21 (p.Ile67_Pro73del) deletion Likely pathogenic rs786204550 GRCh38 Chromosome 17, 3648905: 3648925
8 CTNS NM_004937.2(CTNS): c.225+5_225+6delGTinsCC indel Likely pathogenic rs786204541 GRCh37 Chromosome 17, 3552230: 3552231
9 CTNS NM_004937.2(CTNS): c.292dupA (p.Thr98Asnfs) duplication Likely pathogenic rs786204434 GRCh37 Chromosome 17, 3558358: 3558358
10 CTNS NM_004937.2(CTNS): c.561+1delG deletion Likely pathogenic rs786204667 GRCh37 Chromosome 17, 3559881: 3559881
11 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Pathogenic/Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
12 CTNS NM_004937.2(CTNS): c.809_811delCCT (p.Ser270del) deletion Likely pathogenic rs786204632 GRCh37 Chromosome 17, 3561426: 3561428
13 CTNS NM_004937.2(CTNS): c.926dupG (p.Ser310Glnfs) duplication Likely pathogenic rs786204420 GRCh37 Chromosome 17, 3563225: 3563225
14 CTNS CTNS, 2-BP DEL, 397TG deletion Pathogenic
15 CTNS NM_004937.2(CTNS): c.414G> A (p.Trp138Ter) single nucleotide variant Pathogenic rs113994205 GRCh37 Chromosome 17, 3558599: 3558599
16 CTNS NM_001031681.2(CTNS): c.283G> T (p.Gly95Ter) single nucleotide variant Pathogenic rs121908124 GRCh37 Chromosome 17, 3558349: 3558349
17 CTNS CTNS, 4-BP DEL, 18GACT deletion Pathogenic
18 CTNS NC_000017.11: g.3600934_3658165del57232 deletion Pathogenic GRCh37 Chromosome 17, 3504228: 3561459
19 CTNS NM_001031681.2(CTNS): c.506G> A (p.Gly169Asp) single nucleotide variant Pathogenic rs121908126 GRCh37 Chromosome 17, 3559825: 3559825
20 CTNS CTNS, 5-BP DEL, NT545 deletion Pathogenic
21 CTNS NM_004937.2(CTNS): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113994207 GRCh37 Chromosome 17, 3559997: 3559997
22 CTNS CTNS, -295G-C, PROMOTER single nucleotide variant Pathogenic
23 CTNS NM_004937.2(CTNS): c.1015G> A (p.Gly339Arg) single nucleotide variant Pathogenic rs121908127 GRCh37 Chromosome 17, 3563574: 3563574
24 CTNS NM_001031681.2(CTNS): c.329G> T (p.Gly110Val) single nucleotide variant Pathogenic rs121908129 GRCh37 Chromosome 17, 3558395: 3558395
25 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
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 GRCh38 Chromosome 17, 3656544: 3656545
29 CTNS NM_004937.2(CTNS): c.646dupA (p.Thr216Asnfs) duplication Pathogenic rs1057516993 GRCh38 Chromosome 17, 3656760: 3656760
30 CTNS NM_004937.2(CTNS): c.681+2T> C single nucleotide variant Likely pathogenic rs1057516723 GRCh37 Chromosome 17, 3560091: 3560091
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
34 CTNS NC_000017.11: g.(?_3636418)_(3658195_?)del deletion Pathogenic GRCh37 Chromosome 17, 3539712: 3561489
35 CTNS NM_004937.2(CTNS): c.206_210delTCCTT (p.Ile69Argfs) deletion Pathogenic rs879758262 GRCh37 Chromosome 17, 3552206: 3552210

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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