MCID: CYS010
MIFTS: 53

Cystinosis malady

Summaries for Cystinosis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 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: Cystinosis, also known as cystine storage disease, is related to fanconi syndrome and proteinuria. An important gene associated with Cystinosis is CTNS (cystinosin, lysosomal cystine transporter), and among its related pathways are Vitamin D2 (ergocalciferol) metabolism and Glutathione synthesis and recycling. The compounds pyroglutamate and anastrozole have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid.

Genetics Home Reference:21 Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.

Wikipedia:63 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

Description from OMIM:46 219800

GeneReviews summary for ctns

Aliases & Classifications for Cystinosis

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

cystinosis 8 19 42 21 10 44 60 20 22
cystine storage disease 8 42 21
cystine diathesis 42
cystine disease 42
cystinoses 42


External Ids:

Disease Ontology8 DOID:1064
OMIM46 219800
NCIt39 C2976

Related Diseases for Cystinosis

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17GeneCards, 18GeneDecks
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Diseases in the Cystinosis family:

Intermediate Cystinosis

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1fanconi syndrome30.7CTNS, CUBN, LRP2
2proteinuria30.1CUBN, LRP2, LCAT
3nephropathic cystinosis10.5
4cystinosis, ocular nonnephropathic10.5
5hypertension10.2
6myopathy10.2
7dwarfism10.2
8portal hypertension10.2
9cystinuria10.2
10hypothyroidism10.2
11thyroiditis10.2
12intermediate cystinosis10.2
13renal tubular acidosis10.1
14diabetes mellitus10.1
15cerebritis10.0
16rickets10.0
17glaucoma10.0
18inflammatory bowel disease10.0
19intracranial hypertension10.0
20keratopathy10.0
21liver disease10.0
22pancreatitis10.0
23papilledema10.0
24non-nephropathic cystinosis10.0
25cystinosis, late-onset juvenile or adolescent nephropathic10.0
26cystinosis, atypical nephropathic10.0
27pituitary gland disease10.0GH1, CGA
28nephrotic syndrome10.0LCAT
29dent's disease10.0CUBN, LRP2
30hypothalamic disease10.0CGA, GH1
31leukemia10.0ITGAE
32glutathione synthetase deficiency10.0GSS, OPLAH
33hemolytic anemia10.0LCAT, OPLAH, GSS
34turner syndrome10.0CGA, GH1
35primary hyperoxaluria10.0LCAT, ITGAE, CTNS, LRP2, CUBN
36vitamin b12 deficiency10.0CUBN
37metabolic acidosis10.0OPLAH, GSS
38stroke, ischemic9.9
39prolactinoma9.9
40familial mediterranean fever9.9
41cystic fibrosis9.9
42exfoliation syndrome9.9
43mucolipidosis9.9
44diabetes insipidus9.9
45myxedema9.9
46ocular hypertension9.9
47hereditary fructose intolerance syndrome9.9
48dissecting aortic aneurysm9.9
49end stage renal failure9.9
50nephrocalcinosis9.9

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to cystinosis

Clinical Features for Cystinosis

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46OMIM
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Clinical features from OMIM:

219800

Drugs & Therapeutics for Cystinosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cystinosis

Drug clinical trials:

Search ClinicalTrials for Cystinosis

Search NIH Clinical Center for Cystinosis

Search CenterWatch for Cystinosis

Genetic Tests for Cystinosis

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20GeneTests, 22GTR
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Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis20 22 CTNS

Anatomical Context for Cystinosis

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32MalaCards
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MalaCards organs/tissues related to Cystinosis:

32
Kidney, Eye, Thyroid, Testes, Pancreas, Bone, Bone marrow, Skin, Liver, Pituitary, Brain, Spinal cord, Placenta

Animal Models for Cystinosis or affiliated genes

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Publications for Cystinosis

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50PubMed
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Articles related to Cystinosis:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran. (23640116)
2013
2
Genetic basis of cystinosis in Turkish patients: a single-center experience. (21786142)
2012
3
Urgent ophthalmic examination for renal tubular acidosis. Infantile nephropathic cystinosis. (24132690)
2012
4
Activation of AMP kinase plays a role in the increased apoptosis in the renal proximal tubule in cystinosis. (22982317)
2012
5
Cystinosis presenting with findings of Bartter syndrome. (21750641)
2011
6
Cystinosis: practical tools for diagnosis and treatment. (20734088)
2011
7
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. (21546516)
2011
8
Cystinosis and mickey mouse. (19959600)
2010
9
Cell therapy for cystinosis. (20395258)
2010
10
Multinucleated podocytes: a diagnostic clue to cystinosis. (21030980)
2010
11
Quiz page. Fanconi syndrome caused by cystinosis, intermediate type. (19932873)
2009
12
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
13
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. (17212992)
2007
14
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. (17709758)
2007
15
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
16
Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts. (16439602)
2006
17
Development of Fanconi syndrome during infancy in a patient with cystinosis. (16497654)
2006
18
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
19
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. (15627171)
2005
20
Perioperative care of the patient with nephropathic cystinosis. (15385020)
2004
21
End-stage renal failure as manifestation of adolescent cystinosis. (14767763)
2004
22
Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. (14651726)
2003
23
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. (12442267)
2002
24
Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome. (12036193)
2002
25
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
26
Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. (11562417)
2001
27
A cost-effectiveness analysis of the orphan drug cysteamine in the treatment of infantile cystinosis. (9107615)
1997
28
The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis. (9323287)
1997
29
Benign cystinosis patients. (8907390)
1996
30
Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. (8830179)
1996
31
Medullary nephrocalcinosis in nephropathic cystinosis. (7577398)
1995
32
Resistance to recombinant human erythropoietin in a child with renal failure, cystinosis and beta-thalassaemia minor. (8366996)
1993
33
Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis. (1867269)
1991
34
Nephropathic cystinosis: a case report. (2021093)
1991
35
Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population. (2003795)
1991
36
Cystine exodus from lysosomes: cystinosis. (2698986)
1989
37
A high performance liquid chromatography method for the analysis of 35S-cystine: application to the diagnosis of cystinosis. (2598463)
1989
38
Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis. (3368464)
1988
39
NIH conference. Cystinosis: progress in a prototypic disease. (3048161)
1988
40
Corneal crystals in nephropathic cystinosis. (3627194)
1987
41
First trimester diagnosis of cystinosis using intact chorionic villi. (3575264)
1987
42
Varied types of urinary calculi in a patient with cystinosis without renal tubular acidosis. (3737307)
1986
43
Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review. (4006354)
1985
44
Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. (6842343)
1983
45
Uptake of cystine by cystine-depleted fibroblasts from patients with cystinosis. (7213388)
1981
46
Ascorbic acid treatment in nephropathic cystinosis in identical twins. (7472109)
1981
47
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979
48
Infantile cystinosis in France: genetics, incidence, geographic distribution. (1018302)
1976
49
Enzymic reduction of cystine and glutathione in cultivated human fibroblast from normal subjects and patients with cystinosis. (239080)
1975
50
Nephropathic cystinosis. (4748200)
1973

Genetic Variations for Cystinosis

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Expression for genes affiliated with Cystinosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for genes affiliated with Cystinosis

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Cystinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Vitamin D2 (ergocalciferol) metabolism
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10.2CUBN, LRP2
2
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10.2GSS, OPLAH
3
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10.1VNN2, VNN1

Compounds for genes affiliated with Cystinosis

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Cystinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyroglutamate4410.4GSS, OPLAH
2anastrozole44 1111.3GH1, CGA
3leuprolide acetate4410.3CGA, GH1
4cystine4410.3GSS, CGA, CTNS
5cysteamine44 11 2412.2VNN1, GH1
6cobalamin44 2411.2LRP2, CUBN
7clomiphene citrate4410.2GH1, CGA
8intralipid4410.1LCAT, GH1
9vitamin d4410.1CGA, GH1, LRP2, CUBN
10metoclopramide44 1110.9GH1, CGA

GO Terms for genes affiliated with Cystinosis

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.9CUBN, LRP2, CTNS, PQLC2

Biological processes related to Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutathione biosynthetic processGO:00675010.2GSS, OPLAH
2vitamin D metabolic processGO:04235910.1CUBN, LRP2
3pantothenate metabolic processGO:0159399.8VNN2, VNN1

Molecular functions related to Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pantetheine hydrolase activityGO:01715910.1VNN2, VNN1

Products for genes affiliated with Cystinosis

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  • Antibodies
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  • Antibodies

Sources for 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