MCID: CYS010
MIFTS: 52

Cystinosis malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Cystinosis

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 andĀ 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 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 compounds cystine and dbc-amp have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related mouse phenotype behavior/neurological.

Genetics Home Reference:22 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:66 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

Description from OMIM:48 219800

GeneReviews summary for ctns

Aliases & Classifications for Cystinosis

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 21GeneTests, 23GTR, 59SNOMED-CT, 36MeSH, 48OMIM, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

cystinosis 9 20 44 22 11 46 63 21 23
cystine storage disease 9 44 22
cystine diathesis 44
cystine disease 44
cystinoses 44


External Ids:

Disease Ontology9 DOID:1064
OMIM48 219800
NCIt41 C2976

Related Diseases for Cystinosis

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

219800

Drugs & Therapeutics for Cystinosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis21 23 CTNS

Anatomical Context for Cystinosis

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34MalaCards
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MalaCards organs/tissues related to Cystinosis:

34
Kidney, Eye, Bone, Bone marrow, Skin, Thyroid, Liver, Pituitary, Brain, Testes, Spinal cord, Placenta

Animal Models for Cystinosis or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Cystinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3CTNS, SQSTM1, P2RX5, LRP2

Publications for Cystinosis

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Sources:
53PubMed
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Articles related to Cystinosis:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
Cystinosis with Sclerotic Bone Lesions. (24097416)
2013
2
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
3
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. (23001048)
2013
4
Diagnosis of cystinosis from a bone marrow aspirate. (22911541)
2013
5
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
6
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
7
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
8
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. (22528245)
2012
9
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
10
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
11
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
12
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
13
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
14
A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)
2006
15
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
16
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
17
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
18
Bone marrow findings in hereditary cystinosis with renal failure. (15114603)
2004
19
New aspects of the pathogenesis of cystinosis. (12644911)
2003
20
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
21
Ultrasound biomicroscopy of the eye in cystinosis. (11030813)
2000
22
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)
2000
23
Mutations of CTNS causing intermediate cystinosis. (10444339)
1999
24
Utility of bone imaging in differentiation of pulmonary metastatic calcification from cystine crystal deposition in cystinosis. (9442975)
1998
25
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
26
Tactile recognition in infantile nephropathic cystinosis. (9233367)
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
Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis. (7579095)
1995
29
Successful pregnancy in cystinosis. (7933391)
1994
30
Cystinosis. (2662304)
1989
31
Diagnosis of cystinosis with use of placenta. (2747783)
1989
32
Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone. (2809911)
1989
33
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
34
Patient follow-up--cystinosis. (2723977)
1989
35
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. (3185663)
1988
36
Complications of nephropathic cystinosis after renal failure. (3153286)
1987
37
Cystinosis phenotypes have identical defective cystine clearance pattern. (3452423)
1987
38
Cystinosis coming of age. (3541536)
1986
39
Cerebral atrophy and nephropathic cystinosis. (3707194)
1986
40
Infantile cystinosis and insulin-dependent diabetes mellitus. (3816859)
1986
41
Cystinosis. (3833778)
1985
42
Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review. (4006354)
1985
43
Plasma cysteamine concentrations in children treated for cystinosis. (7057343)
1982
44
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979
45
Cysteamine therapy for cystinosis. (80647)
1978
46
The in vivo use of dithiothreitol in cystinosis. (840501)
1977
47
Endocrine studies in cystinosis: compensated primary hypothyroidism. (406375)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cystinosis:

1
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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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database
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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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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Cystinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cystine469.7CTNS, CGA
2dbc-amp469.6CGA, LRP2
3sialic acid469.5CTNS, CGA
4vitamin a46 25 1211.5LRP2, CGA
5thyroxine46 2510.4LRP2, CGA
6folate469.2CGA, LRP2

GO Terms for genes affiliated with Cystinosis

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17Gene Ontology
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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
  • Antibodies

Sources for Cystinosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet