MCID: CYS010
MIFTS: 58

Cystinosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories
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Summaries for Cystinosis

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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 based summary: Cystinosis, also known as cystine storage disease, is related to fanconi syndrome and hypothyroidism. An important gene associated with Cystinosis is CTNS (cystinosin, lysosomal cystine transporter), and among its related pathways are Insulin secretion and Metabolism of steroid hormones and vitamin D. The drugs cysteamine and cysteamine bitartrate and the compounds cystine and dbc-amp have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid, and related mouse phenotype behavior/neurological.

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:65 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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Cystinosis, Aliases & Descriptions:

Name: Cystinosis 8 19 42 21 10 44 62 20 22
Cystine Storage Disease 8 42 21 62
Cystine Diathesis 42 62
 
Cystine Disease 42 62
Cystinoses 42


Classifications:



External Ids:

Disease Ontology8 DOID:1064
NCIt39 C2976
OMIM46 219800

Related Diseases for Cystinosis

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Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to cystinosis

Symptoms for Cystinosis

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Clinical features from OMIM:

219800

Drugs & Therapeutics for Cystinosis

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Drug clinical trials:

Search ClinicalTrials for Cystinosis

Search NIH Clinical Center for Cystinosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Cystinosis

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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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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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MGI Mouse Phenotypes related to Cystinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3CTNS, SQSTM1, P2RX5, LRP2

Publications for Cystinosis

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Articles related to Cystinosis:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
Common mutation causes cystinosis in the majority of black South African patients. (25326109)
2014
2
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. (25071085)
2014
3
Cystinosis with Sclerotic Bone Lesions. (24097416)
2013
4
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
5
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. (23001048)
2013
6
Diagnosis of cystinosis from a bone marrow aspirate. (22911541)
2013
7
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
8
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
9
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
10
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. (22528245)
2012
11
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
12
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
13
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
14
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
15
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
16
A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)
2006
17
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
18
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
19
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
20
Bone marrow findings in hereditary cystinosis with renal failure. (15114603)
2004
21
New aspects of the pathogenesis of cystinosis. (12644911)
2003
22
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
23
Ultrasound biomicroscopy of the eye in cystinosis. (11030813)
2000
24
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)
2000
25
Mutations of CTNS causing intermediate cystinosis. (10444339)
1999
26
Utility of bone imaging in differentiation of pulmonary metastatic calcification from cystine crystal deposition in cystinosis. (9442975)
1998
27
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
28
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
29
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13. (8812732)
1996
30
Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis. (7579095)
1995
31
Successful pregnancy in cystinosis. (7933391)
1994
32
Cystinosis. (2662304)
1989
33
Diagnosis of cystinosis with use of placenta. (2747783)
1989
34
Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone. (2809911)
1989
35
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
36
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. (3185663)
1988
37
Complications of nephropathic cystinosis after renal failure. (3153286)
1987
38
Cystinosis phenotypes have identical defective cystine clearance pattern. (3452423)
1987
39
Cystinosis coming of age. (3541536)
1986
40
Cerebral atrophy and nephropathic cystinosis. (3707194)
1986
41
Infantile cystinosis and insulin-dependent diabetes mellitus. (3816859)
1986
42
Cystinosis. (3833778)
1985
43
Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review. (4006354)
1985
44
Plasma cysteamine concentrations in children treated for cystinosis. (7057343)
1982
45
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979
46
Cysteamine therapy for cystinosis. (80647)
1978
47
The in vivo use of dithiothreitol in cystinosis. (840501)
1977
48
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. (932205)
1976
49
Transport of L-cystine by cultivated skin fibroblasts of normal subjects and patients with cystinosis. (934729)
1976
50
Prenatal diagnosis of cystinosis. (1159582)
1975

Variations for Cystinosis

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Clinvar genetic disease variations for Cystinosis:

6
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.283G> T (p.Gly95Ter)single nucleotide variantPathogenicrs121908124GRCh37Chr 17, 3558349: 3558349
6CTNSNM_001031681.2(CTNS): c.414G> A (p.Trp138Ter)single nucleotide variantPathogenicrs113994205GRCh37Chr 17, 3558599: 3558599
7CTNSNC_000017.11: g.3600934_3658165del57232deletionPathogenicGRCh37Chr 17, 3504228: 3561459
8CTNSNM_001031681.2(CTNS): c.506G> A (p.Gly169Asp)single nucleotide variantPathogenicrs121908126GRCh37Chr 17, 3559825: 3559825
9CTNSNM_001031681.2(CTNS): c.1015G> A (p.Gly339Arg)single nucleotide variantPathogenicrs121908127GRCh37Chr 17, 3563574: 3563574

Expression for genes affiliated with Cystinosis

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Expression patterns in normal tissues for genes affiliated with Cystinosis

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Pathways for genes affiliated with Cystinosis

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Pathways related to Cystinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CGA, LRP2
2
Show member pathways
9.5CGA, LRP2

Compounds for genes affiliated with Cystinosis

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Cystinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cystine449.7CGA, CTNS
2dbc-amp449.6CGA, LRP2
3sialic acid449.5CGA, CTNS
4vitamin a44 24 1111.5CGA, LRP2
5thyroxine44 2410.4LRP2, CGA
6folate449.2CGA, LRP2

GO Terms for genes affiliated with Cystinosis

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Cellular components related to Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:0057709.2CTNS, SQSTM1
2lysosomeGO:0057648.5CTNS, SQSTM1, LRP2

Products for genes affiliated with Cystinosis

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet