CTNS
MCID: NPH021
MIFTS: 58

Nephropathic Cystinosis (CTNS) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Nephropathic Cystinosis

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 andĀ inherited in an autosomal recessive pattern. last updated: 11/11/2011

MalaCards: Nephropathic Cystinosis, also known as cystinosis, nephropathic, is related to cystinosis and fanconi syndrome. An important gene associated with Nephropathic Cystinosis is CTNS (cystinosin, lysosomal cystine transporter), and among its related pathways are Metabolism of steroid hormones and vitamin D and Senescence and Autophagy. The compounds leuprolide acetate and anastrozole have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver, and related mouse phenotypes are reproductive system and nervous system.

Description from OMIM:48 219800

Aliases & Classifications for Nephropathic Cystinosis

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63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

nephropathic cystinosis 44 21 23
cystinosis, nephropathic 48 46
lysosomal cystine transport protein, defect of 44
cystinosis, infantile nephropathic 63
cystinosin, defect of 44
fanconi syndrome 63
ctns 44


Related Diseases for Nephropathic Cystinosis

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18GeneCards, 19GeneDecks
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Diseases related to Nephropathic Cystinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1cystinosis32.1SHPK, CTNS, LRP2
2fanconi syndrome30.5CUBN, CTNS, LRP2
3myopathy10.5
4cerebritis10.4
5hypertension10.4
6thyroiditis10.4
7non-nephropathic cystinosis10.4
8portal hypertension10.2
9rickets10.2
10nephrocalcinosis10.2
11adenoiditis10.2
12renal tubular acidosis10.2
13hydrocephalus10.2
14hyperparathyroidism10.2
15inflammatory bowel disease10.2
16intracranial hypertension10.2
17liver disease10.2
18pancreatitis10.2
19papilledema10.2
20cystinosis, ocular nonnephropathic10.2
21vacuolar myopathy10.2
22intermediate cystinosis10.2
23cerebral atrophy10.2
24cystinosis, late-onset juvenile or adolescent nephropathic10.2
25cystinosis, atypical nephropathic10.2
26cataract10.1
27pituitary gland disease10.0GH1, CGA
28hypothalamic disease10.0GH1, CGA
29turner syndrome10.0CGA, GH1
30hyperprolactinemia10.0CGA, GH1
31precocious puberty10.0CGA, GH1
32hypopituitarism10.0CGA, GH1
33polycystic ovary syndrome10.0CGA, GH1
34hyperandrogenism10.0GH1, CGA
35hyperthyroidism10.0CGA, GH1
36hypothyroidism10.0LRP2, CGA
37prolactinoma10.0GH1, CGA
38dent's disease10.0LRP2, CUBN
39graft versus host disease10.0
40diffuse large b-cell lymphoma10.0
41acute myocardial infarction10.0
42adenocarcinoma10.0
43hepatocellular carcinoma10.0
44lung cancer10.0
45myocardial infarction10.0
46prostate adenocarcinoma10.0
47prostatitis10.0
48acute graft versus host disease10.0
49b-cell lymphomas10.0
50argyrophilic grain disease10.0

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



Diseases related to nephropathic cystinosis

Symptoms for Nephropathic Cystinosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

219800

Clinical features from OMIM:

219800

Drugs & Therapeutics for Nephropathic Cystinosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Nephropathic Cystinosis

Drug clinical trials:

Search ClinicalTrials for Nephropathic Cystinosis

Search NIH Clinical Center for Nephropathic Cystinosis

Search CenterWatch for Nephropathic Cystinosis

Genetic Tests for Nephropathic Cystinosis

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21GeneTests, 23GTR
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Genetic tests related to Nephropathic Cystinosis:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis21 23 CTNS

Anatomical Context for Nephropathic Cystinosis

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34MalaCards
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MalaCards organs/tissues related to Nephropathic Cystinosis:

34
Eye, Kidney, Liver, Thyroid, Pituitary, Bone marrow, Bone

Animal Models for Nephropathic Cystinosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Nephropathic Cystinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0CGA, CASP4, GH1, BECN1, LRP2
2MP:00036317.4LRP2, BECN1, GH1, CASP4, SQSTM1, CGA
3MP:00053766.9CGA, LRP2, CUBN, BECN1, GH1, CASP4

Publications for Nephropathic Cystinosis

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53PubMed
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Articles related to Nephropathic Cystinosis:

(show top 50)    (show all 171)
idTitleAuthorsYear
1
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. (23775203)
2013
2
Executive function in nephropathic cystinosis. (23538568)
2013
3
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
4
p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis. (22714671)
2012
5
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
6
Infantile nephropathic cystinosis. (21980659)
2011
7
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
8
Analysis of CTNS gene transcripts in nephropathic cystinosis. (20352457)
2010
9
Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. (19705160)
2010
10
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. (20803298)
2010
11
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
12
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
13
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
14
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
15
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. (12204010)
2002
16
In vivo confocal microscopy of the cornea in nephropathic cystinosis. (12470153)
2002
17
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
18
The molecular basis of Dutch infantile nephropathic cystinosis. (11528232)
2001
19
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. (11001803)
2000
20
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. (10417278)
1999
21
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. (9537412)
1998
22
Massive tumour-like testicular cystine accumulation in a patient with infantile nephropathic cystinosis. (9488087)
1998
23
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
24
Visuomotor performance in children with infantile nephropathic cystinosis. (8668504)
1996
25
Growth and pubertal development in nephropathic cystinosis. (8444253)
1993
26
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. (1552398)
1992
27
Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis. (2021367)
1991
28
Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. (2073300)
1990
29
The effect of topical cysteamine drops on reducing crystal formation within the cornea of patients affected by nephropathic cystinosis. (2246744)
1990
30
Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone. (2809911)
1989
31
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
32
Hearing loss and adenoidal hypertrophy in an adolescent with nephropathic cystinosis. (2512560)
1989
33
Corneal thickness in nephropathic cystinosis. (2765448)
1989
34
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. (3185663)
1988
35
Complications of nephropathic cystinosis after renal failure. (3153286)
1987
36
Corneal crystals in nephropathic cystinosis. (3627194)
1987
37
Corneal transplant in boy with nephropathic cystinosis. (2880145)
1987
38
Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. (3821824)
1987
39
Recurrent crystal deposition after keratoplasty in nephropathic cystinosis. (3303948)
1987
40
Contrast sensitivity function in nephropathic cystinosis. (3689189)
1987
41
Glare disability in nephropathic cystinosis. (3689190)
1987
42
Corneal sensitivity in nephropathic cystinosis. (3661652)
1987
43
Cerebral atrophy and nephropathic cystinosis. (3707194)
1986
44
Pituitary secretion of alpha and beta subunits of thyroid-stimulating hormone (TSH) in nephropathic cystinosis. (6202655)
1984
45
Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. (6842343)
1983
46
Nonabsorptive hydrocephalus associated with nephropathic cystinosis. (6890639)
1982
47
Circulating cryoglobulins in nephropathic cystinosis. (7205456)
1981
48
Effects of cysteamine therapy in nephropathic cystinosis. (7442733)
1981
49
Ascorbic acid treatment in nephropathic cystinosis in identical twins. (7472109)
1981
50
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979

Variations for Nephropathic Cystinosis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Nephropathic Cystinosis:

65 (show all 25)
id Symbol AA change Variation ID SNP ID
1CTNSp.Gly169AspVAR_010286
2CTNSp.Ile133PheVAR_010677
3CTNSp.Ser139PheVAR_010678
4CTNSp.Leu158ProVAR_010680
5CTNSp.Trp182ArgVAR_010681
6CTNSp.Asp205AsnVAR_010683
7CTNSp.Asp305GlyVAR_010690
8CTNSp.Asp305TyrVAR_010691
9CTNSp.Gly308ArgVAR_010692
10CTNSp.Leu338ProVAR_010694
11CTNSp.Gly339ArgVAR_010695
12CTNSp.Asp346AsnVAR_010698
13CTNSp.Ser298AsnVAR_012315
14CTNSp.Gly110ValVAR_037318
15CTNSp.Gln222ArgVAR_037321
16CTNSp.Asn288LysVAR_037322
17CTNSp.Arg151GlyVAR_067490
18CTNSp.Gly157AspVAR_067491
19CTNSp.Tyr173CysVAR_067492
20CTNSp.Asn177SerVAR_067493
21CTNSp.Met287IleVAR_067494
22CTNSp.Gly308ValVAR_067495
23CTNSp.Gly309AspVAR_067496
24CTNSp.Gly337ArgVAR_067497
25CTNSp.Leu338ArgVAR_067498

Clinvar genetic disease variations for Nephropathic Cystinosis:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1CTNSNM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del)deletionPathogenicrs113994204GRCh37Chr 17, 3552198: 3552218
2CTNSNM_001031681.2(CTNS): c.473T> C (p.Leu158Pro)single nucleotide variantPathogenicrs113994206GRCh37Chr 17, 3559792: 3559792
3CTNSNM_001031681.2(CTNS): c.613G> A (p.Asp205Asn)single nucleotide variantPathogenicrs113994208GRCh37Chr 17, 3560021: 3560021
4CTNSNM_001031681.2(CTNS): c.696dupC (p.Val233Argfs)duplicationPathogenicrs113994209GRCh37Chr 17, 3561313: 3561314
5CTNSNM_001031681.2(CTNS): c.559_561+24del27deletionPathogenicrs113994211GRCh37Chr 17, 3559878: 3559904
6CTNSNM_001031681.2(CTNS): c.283G> T (p.Gly95Ter)single nucleotide variantPathogenicrs121908124GRCh37Chr 17, 3558349: 3558349
7CTNSCTNS, 2-BP DEL, 397TGdeletionPathogenic
8CTNSNM_001031681.2(CTNS): c.414G> A (p.Trp138Ter)single nucleotide variantPathogenicrs113994205GRCh37Chr 17, 3558599: 3558599
9CTNSCTNS, 4-BP DEL, 18GACTdeletionPathogenic
10CTNSNC_000017.11: g.3600934_3658165del57232deletionPathogenicGRCh37Chr 17, 3504228: 3561459
11CTNSNM_001031681.2(CTNS): c.506G> A (p.Gly169Asp)single nucleotide variantPathogenicrs121908126GRCh37Chr 17, 3559825: 3559825
12CTNSCTNS, 5-BP DEL, NT545deletionPathogenic
13CTNSCTNS, -295G-Csingle nucleotide variantPathogenic
14CTNSNM_001031681.2(CTNS): c.1015G> A (p.Gly339Arg)single nucleotide variantPathogenicrs121908127GRCh37Chr 17, 3563574: 3563574

Expression for genes affiliated with Nephropathic Cystinosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephropathic Cystinosis

Search GEO for disease gene expression data for Nephropathic Cystinosis.

Pathways for genes affiliated with Nephropathic Cystinosis

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CGA, CUBN, LRP2
29.0SQSTM1, MAP1LC3A, BECN1
38.7SQSTM1, CASP4, BECN1

Compounds for genes affiliated with Nephropathic Cystinosis

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 62Tocris Bioscience
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Compounds related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1leuprolide acetate4610.1CGA, GH1
2anastrozole46 52 1212.1CGA, GH1
3cystine4610.1CGA, CTNS
4clomiphene citrate4610.1CGA, GH1
5cabergoline46 30 1212.1CGA, GH1
6metoclopramide46 52 1212.0CGA, GH1
7cobalamin46 2511.0CUBN, LRP2
8bromocriptine46 30 1211.8CGA, GH1
9clonidine46 52 30 1212.8CGA, GH1
1025-hydroxyvitamin d469.8LRP2, CUBN
11thyroxine46 2510.8LRP2, GH1, CGA
12naloxone46 30 52 1212.7GH1, CGA
13folate469.7LRP2, CUBN, CGA
14calcitriol46 62 25 1212.6LRP2, CUBN, GH1
15norepinephrine46 25 1211.6CGA, SQSTM1, GH1
16dehydroepiandrosterone sulfate469.5CGA, GH1
17vitamin d469.4CGA, GH1, CUBN, LRP2
18steroid469.2LRP2, CUBN, GH1, CGA
19indomethacin46 30 62 1212.2GH1, CASP4, CGA
20serine468.7CGA, SQSTM1, GH1, BECN1, LRP2

GO Terms for genes affiliated with Nephropathic Cystinosis

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17Gene Ontology
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Cellular components related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1autophagic vacuoleGO:0057769.8MAP1LC3A, SQSTM1
2lysosomeGO:0057649.7CTNS, SQSTM1, LRP2
3coated pitGO:0059059.7CUBN, LRP2
4brush border membraneGO:0315269.6CUBN, LRP2
5late endosomeGO:0057709.6CTNS, SQSTM1, MAP1LC3A
6lysosomal membraneGO:0057659.5CTNS, CUBN, LRP2
7endocytic vesicleGO:0301399.4CUBN, LRP2
8extracellular vesicular exosomeGO:0700628.6LRP2, CUBN, SQSTM1, TAX1BP3, CTNS

Biological processes related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D metabolic processGO:0423599.8CUBN, LRP2
2receptor-mediated endocytosisGO:0068989.7CUBN, LRP2
3steroid metabolic processGO:0082029.4CUBN, LRP2
4autophagic vacuole assemblyGO:0000459.3MAP1LC3A, BECN1
5regulation of inflammatory responseGO:0507279.1SHPK, CASP4

Molecular functions related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1CGA, TAX1BP3, SQSTM1, MAP1LC3A, GH1, BECN1

Products for genes affiliated with Nephropathic Cystinosis

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  • Antibodies
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Sources for Nephropathic Cystinosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet