CTNS
MCID: NPH021
MIFTS: 45

Nephropathic Cystinosis (CTNS) malady

Nephrological diseases category

Summaries for Nephropathic Cystinosis

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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

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 Vitamin D2 (ergocalciferol) metabolism and Metabolism of steroid hormones and vitamin D. The compounds anastrozole and leuprolide acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 219800

Aliases & Classifications for Nephropathic Cystinosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

nephropathic cystinosis 42 20 22
cystinosis, nephropathic 46 44
lysosomal cystine transport protein, defect of 42
cystinosis, infantile nephropathic 60
cystinosin, defect of 42
fanconi syndrome 60
ctns 42


Related Diseases for Nephropathic Cystinosis

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17GeneCards, 18GeneDecks
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Diseases related to Nephropathic Cystinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1cystinosis31.9LRP2, SHPK, CTNS
2fanconi syndrome30.5CUBN, LRP2, CTNS
3dent's disease30.0CUBN, LRP2
4proteinuria29.8CUBN, LRP2
5adult syndrome10.8
6osteomalacia10.6
7myopathy10.5
8toni-debre-fanconi syndrome10.4
9fanconi renotubular syndrome10.4
10cerebritis10.3
11hypertension10.3
12liver disease10.3
13thyroiditis10.3
14non-nephropathic cystinosis10.3
15diabetes insipidus10.3
16hepatitis10.3
17nephrogenic diabetes insipidus10.3
18mitochondrial dna deletion syndromes10.3
19toni-fanconi syndrome10.3
20monoclonal ig light chain-associated fanconi syndrome10.3
21cataract10.2
22congenital hypoplastic anemia10.2
23nephrotic syndrome10.2
24uveitis10.2
25portal hypertension10.2
26ocular hypertension10.2
27rickets10.2
28nephrocalcinosis10.2
29exocrine pancreatic insufficiency10.2
30renal tubular acidosis10.2
31adenoiditis10.2
32corneal deposit10.2
33hydrocephalus10.2
34hyperparathyroidism10.2
35inflammatory bowel disease10.2
36intracranial hypertension10.2
37pancreatitis10.2
38papilledema10.2
39cystinosis, ocular nonnephropathic10.2
40intermediate cystinosis10.2
41cystinosis, late-onset juvenile or adolescent nephropathic10.2
42cystinosis, atypical nephropathic10.2
43primary biliary cirrhosis10.1
44kearns-sayre syndrome10.1
45cystinuria10.1
46hepatitis b10.1
47histiocytosis10.1
48kidney disease10.1
49autosomal recessive disease10.1
50interstitial nephritis10.1

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



Diseases related to nephropathic cystinosis

Clinical Features for Nephropathic Cystinosis

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Sources:
46OMIM
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Clinical features from OMIM:

219800

Clinical synopsis from OMIM:

219800

Drugs & Therapeutics for Nephropathic Cystinosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Nephropathic Cystinosis:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis20 22 CTNS

Anatomical Context for Nephropathic Cystinosis

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32MalaCards
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MalaCards organs/tissues related to Nephropathic Cystinosis:

32
Eye, Kidney

Animal Models for Nephropathic Cystinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nephropathic Cystinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0BECN1, CUBN, LRP2, GH1, CGA, SQSTM1

Publications for Nephropathic Cystinosis

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Genetic Variations for Nephropathic Cystinosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Nephropathic Cystinosis:

62 (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

Expression for genes affiliated with Nephropathic Cystinosis

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1BioGPS, 15Gene 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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53Reactome, 4Cell Signaling Technology
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Pathways related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Vitamin D2 (ergocalciferol) metabolism
Hide members
9.7CUBN, LRP2
2
Hide members
9.7CUBN, LRP2
38.7BECN1, SQSTM1, CASP4

Compounds for genes affiliated with Nephropathic Cystinosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1anastrozole44 1111.0GH1, CGA
2leuprolide acetate4410.0GH1, CGA
3metoclopramide44 1111.0GH1, CGA
4cobalamin44 2410.9CUBN, LRP2
5clomiphene citrate449.9GH1, CGA
6cabergoline28 44 1111.8GH1, CGA
7thyroxine44 2410.7CGA, GH1, LRP2
8cystine449.6CGA, CTNS
9folate449.5CGA, LRP2, CUBN
10calcitriol44 59 11 2412.3GH1, LRP2, CUBN
11vitamin d449.3CUBN, LRP2, GH1, CGA
12indomethacin44 59 28 1112.0GH1, CGA, CASP4
13steroid448.9CGA, GH1, LRP2, CUBN

GO Terms for genes affiliated with Nephropathic Cystinosis

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Sources:
16Gene Ontology
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Cellular components related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicleGO:0301399.7CUBN, LRP2
2brush border membraneGO:0315269.4CUBN, LRP2
3lysosomeGO:0057649.4LRP2, SQSTM1, CTNS
4lysosomal membraneGO:0057659.4CTNS, LRP2, CUBN

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

idNameGO IDScoreTop Affiliating Genes
1vitamin D metabolic processGO:0423599.7CUBN, LRP2

Products for genes affiliated with Nephropathic Cystinosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephropathic Cystinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet