CTNS
MCID: NPH021
MIFTS: 47

Nephropathic Cystinosis (CTNS) malady

Nephrological category

Summaries for Nephropathic Cystinosis

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 bone marrow, kidney and liver, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 219800

Aliases & Classifications for Nephropathic Cystinosis

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

nephropathic cystinosis 43 20 22
cystinosis, nephropathic 47 45
lysosomal cystine transport protein, defect of 43
cystinosis, infantile nephropathic 61
cystinosin, defect of 43
fanconi syndrome 61
ctns 43


Related Diseases for Nephropathic Cystinosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to nephropathic cystinosis

Clinical Features for Nephropathic Cystinosis

Sources:
47OMIM
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Clinical features from OMIM:

219800

Clinical synopsis from OMIM:

219800

Drugs & Therapeutics for Nephropathic Cystinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Nephropathic Cystinosis:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis20 22 CTNS

Anatomical Context for Nephropathic Cystinosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Nephropathic Cystinosis:

33
Bone marrow, Kidney, Liver, Thyroid, Pituitary

Animal Models for Nephropathic Cystinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Nephropathic Cystinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0BECN1, CUBN, LRP2, GH1, CGA, SQSTM1

Publications for Nephropathic Cystinosis

Sources:
51PubMed
See all sources

Articles related to Nephropathic Cystinosis:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Nephropathic infantile form of cystinosis about one case. (22497686)
2013
2
Nephropathic cystinosis in a developing country: the Egyptian experience. (23354215)
2013
3
Suppository formulations as a potential treatment for nephropathic cystinosis. (22778070)
2012
4
Urgent ophthalmic examination for renal tubular acidosis. Infantile nephropathic cystinosis. (24132690)
2012
5
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
6
Nephropathic Cystinosis: First reported case in Oman. (22087400)
2011
7
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
8
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. (20803298)
2010
9
Abnormal mitochondrial autophagy in nephropathic cystinosis. (20729635)
2010
10
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
11
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
12
Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature. (18644104)
2008
13
Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. (15669688)
2004
14
The molecular basis of Dutch infantile nephropathic cystinosis. (11528232)
2001
15
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. (11565547)
2001
16
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. (11001803)
2000
17
Pyroglutamic aciduria and nephropathic cystinosis. (10384373)
1999
18
Massive tumour-like testicular cystine accumulation in a patient with infantile nephropathic cystinosis. (9488087)
1998
19
Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic Cystinosis. (9545002)
1998
20
Clinical and molecular aspects of nephropathic cystinosis. (9587063)
1998
21
Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis. (7577416)
1995
22
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
23
Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. (7947039)
1994
24
Pituitary-testicular function in nephropathic cystinosis. (8363167)
1993
25
Classic nephropathic cystinosis as an adult disease. (8411603)
1993
26
Culture of renal tubular cells from the urine of patients with nephropathic cystinosis. (1912401)
1991
27
Nephropathic cystinosis: a case report. (2021093)
1991
28
Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population. (2003795)
1991
29
Acquired structural genitourinary abnormalities contributing to deterioration of renal function in older patients with nephropathic cystinosis. (1956743)
1991
30
Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. (2073300)
1990
31
The effect of topical cysteamine drops on reducing crystal formation within the cornea of patients affected by nephropathic cystinosis. (2246744)
1990
32
Update on nephropathic cystinosis. (2088469)
1990
33
Swallowing dysfunction in nephropathic cystinosis. (2381441)
1990
34
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
35
Neurologic complications in long-standing nephropathic cystinosis. (2712751)
1989
36
Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. (3335962)
1988
37
Complications of nephropathic cystinosis after renal failure. (3153286)
1987
38
Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis. (3688102)
1987
39
Nephropathic cystinosis: immunohistochemical and histopathologic studies of cornea, conjunctiva and iris. (3581880)
1987
40
Treatment of infantile nephropathic cystinosis with cysteamine. (3702933)
1986
41
Long-term ocular manifestations in nephropathic cystinosis. (3518682)
1986
42
Long-term treatment of infantile nephropathic cystinosis with cysteamine. (4058549)
1985
43
Cysteamine treatment of nephropathic cystinosis. (6351097)
1983
44
Nonabsorptive hydrocephalus associated with nephropathic cystinosis. (6890639)
1982
45
Psychosocial and intellectual development in 12 patients with infantile nephropathic cystinosis. (6760661)
1982
46
Circulating cryoglobulins in nephropathic cystinosis. (7205456)
1981
47
Effects of cysteamine therapy in nephropathic cystinosis. (7442733)
1981
48
Adverse reactions to oral cysteamine use in nephropathic cystinosis. (7307866)
1981
49
Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents. (7246131)
1981
50
Nephropathic cystinosis. (4748200)
1973

Genetic Variations for Nephropathic Cystinosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Nephropathic Cystinosis:

63 (show all 25)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1anastrozole45 1111.0GH1, CGA
2leuprolide acetate4510.0GH1, CGA
3metoclopramide45 1111.0GH1, CGA
4cobalamin45 2410.9CUBN, LRP2
5clomiphene citrate459.9GH1, CGA
6cabergoline29 45 1111.8GH1, CGA
7thyroxine45 2410.7CGA, GH1, LRP2
8cystine459.6CGA, CTNS
9folate459.5CGA, LRP2, CUBN
10calcitriol45 60 11 2412.3GH1, LRP2, CUBN
11vitamin d459.3CUBN, LRP2, GH1, CGA
12indomethacin45 60 29 1112.0GH1, CGA, CASP4
13steroid458.9CGA, GH1, LRP2, CUBN

GO Terms for genes affiliated with Nephropathic Cystinosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephropathic Cystinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet