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, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

cystinosis 8 19 42 20 22 21 10 44 60
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
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
2
Diagnosis of cystinosis from a bone marrow aspirate. (22911541)
2013
3
In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis. (21963264)
2013
4
Nephropathic infantile form of cystinosis about one case. (22497686)
2013
5
Copper deficiency in patients with cystinosis with cysteamine toxicity. (23651769)
2013
6
Posterior reversible encephalopathy syndrome in cystinosis. (22795770)
2013
7
A potential new method to estimate tissue cystine content in nephropathic cystinosis. (22513268)
2012
8
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. (21195649)
2011
9
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. (20803298)
2010
10
Cystinosis and lupus erythematosus: coincidence or causation. (20191368)
2010
11
Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity. (17668247)
2008
12
Infantile nephropathic cystinosis. (18075494)
2008
13
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. (16527704)
2006
14
Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy. (15331510)
2004
15
New aspects of the pathogenesis of cystinosis. (12644911)
2003
16
Early oral cysteamine therapy for nephropathic cystinosis. (14610675)
2003
17
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (12458800)
2002
18
Oral motor dysfunction in nephropathic cystinosis. (11955939)
2002
19
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. (11565547)
2001
20
Ultrasound biomicroscopy of the eye in cystinosis. (11030813)
2000
21
Early development of the renal lesions in infantile cystinosis. (11095011)
2000
22
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. (10673275)
2000
23
Early blindness due to retinopathy of infantile cystinosis. (11116719)
2000
24
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. (10417278)
1999
25
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
26
Renal stones in nephropathic cystinosis treated with phosphocysteamine. (9438669)
1997
27
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13. (8812732)
1996
28
Visuomotor performance in children with infantile nephropathic cystinosis. (8668504)
1996
29
Effectiveness of cysteamine and mesna in decreasing intracellular cystine content in cystinosis. (8883064)
1996
30
Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis. (7577416)
1995
31
Cysteamine for cystinosis. (7990755)
1994
32
Anaesthetic implications of cystinosis. (8403116)
1993
33
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. (1552398)
1992
34
Sudden death in cystinosis. (1473097)
1992
35
Update on nephropathic cystinosis. (2088469)
1990
36
Neurologic and cognitive deficits in children with cystinosis. (3373397)
1988
37
Lysosomal cystine transport in cystinosis variants and their parents. (3822600)
1987
38
Corneal sensitivity in nephropathic cystinosis. (3661652)
1987
39
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
40
Late symptoms in infantile cystinosis. (3153326)
1987
41
Circulating somatomedin-C levels in nephropathic cystinosis. (6539316)
1984
42
The intralysosomal pH in cultured human skin fibroblasts in relation to cystine accumulation in patients with cystinosis. (6639653)
1983
43
Nonabsorptive hydrocephalus associated with nephropathic cystinosis. (6890639)
1982
44
Cystinosis in non-caucasian children. (7109419)
1982
45
Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of glycine cleavage system in vitro. (7289883)
1981
46
Circulating cryoglobulins in nephropathic cystinosis. (7205456)
1981
47
Cystinosis: a diagnostic problem. (471555)
1979
48
Thioredoxin and glutathione in cultured fibroblasts from human cases with 5-oxoprolinuria and cystinosis. (631333)
1978
49
Growth and endocrine function in children with cystinosis following renal transplantation. (213867)
1978
50
Idiopathic Fanconi syndrome without cystinosis. (5307879)
1969

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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  • Lysates
  • 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