MCID: CYS010
MIFTS: 51

Cystinosis malady

Summaries for Cystinosis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 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: Cystinosis, also known as cystine storage disease, is related to fanconi syndrome and nephropathic cystinosis. 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 bone marrow, brain and spinal cord.

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

Description from OMIM:47 219800

GeneReviews summary for ctns

Aliases & Classifications for Cystinosis

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 20GeneTests, 22GTR, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

cystinosis 8 19 43 21 10 45 61 20 22
cystine storage disease 8 43 21
cystine diathesis 43
cystine disease 43
cystinoses 43


External Ids:

Disease Ontology8 DOID:1064
OMIM47 219800
NCIt40 C2976

Related Diseases for Cystinosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 57)
idRelated DiseaseScoreTop Affiliating Genes
1fanconi syndrome30.8CUBN, LRP2, CTNS
2nephropathic cystinosis11.1
3cystinosis, ocular nonnephropathic10.5
4intermediate cystinosis10.3
5non-nephropathic cystinosis10.3
6dwarfism10.2
7portal hypertension10.2
8cystinuria10.2
9renal tubular acidosis10.1
10n syndrome10.1
11rickets10.1
12toni-fanconi syndrome10.1
13cystinosis, late-onset juvenile or adolescent nephropathic10.1
14cystinosis, atypical nephropathic10.1
15pituitary gland disease10.0GH1, CGA
16nephrotic syndrome10.0LCAT
17dent's disease10.0CUBN, LRP2
18leukemia10.0ITGAE
19hypothalamic disease10.0GH1, CGA
20glutathione synthetase deficiency10.0OPLAH, GSS
21hemolytic anemia10.0LCAT, OPLAH, GSS
22turner syndrome10.0GH1, CGA
23proteinuria10.0CUBN, LRP2, LCAT
24primary hyperoxaluria10.0LCAT, CTNS, ITGAE, LRP2, CUBN
25vitamin b12 deficiency10.0CUBN
26metabolic acidosis10.0GSS, OPLAH
27stroke, ischemic9.9
28prolactinoma9.9
29familial mediterranean fever9.9
30cystic fibrosis9.9
31mucolipidosis9.9
32diabetes insipidus9.9
33myxedema9.9
34ocular hypertension9.9
35hereditary fructose intolerance syndrome9.9
36dissecting aortic aneurysm9.9
37nephrocalcinosis9.9
38exocrine pancreatic insufficiency9.9
39fabry disease9.9
40azoospermia9.9
41osteogenesis imperfecta9.9
42nephrogenic diabetes insipidus9.9
43recurrent corneal erosion9.9
44aortic aneurysm9.9
45arthropathy9.9
46atherosclerosis9.9
47synovitis9.9
48osteogenesis imperfecta type i9.9
49fanconi renotubular syndrome9.9
50aminoaciduria9.9

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to cystinosis

Clinical Features for Cystinosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

219800

Drugs & Therapeutics for Cystinosis

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

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis20 22 CTNS

Anatomical Context for Cystinosis

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

33
Bone marrow, Brain, Spinal cord, Kidney, Liver, Pancreas, Thyroid, Skin, Placenta, Pituitary

Animal Models for Cystinosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cystinosis

Sources:
51PubMed
See all sources

Articles related to Cystinosis:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Clinical utility gene card for: Cystinosis. (24045844)
2013
2
Optical diagnosis of a metabolic disease: cystinosis. (23612886)
2013
3
Recurrent ischemic stroke in an adult with cystinosis: aA clinical-pathological case. (23867043)
2013
4
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
5
p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis. (22714671)
2012
6
Therapy: An extended-release form of cysteamine bitartrate for cystinosis. (22614787)
2012
7
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. (23169667)
2012
8
Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctnsa8>/a8> mouse model. (22578532)
2012
9
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
10
Analysis of CTNS gene transcripts in nephropathic cystinosis. (20352457)
2010
11
Increased intracranial pressure in patients with cystinosis. (21175114)
2010
12
Neurological impairment in nephropathic cystinosis: motor coordination deficits. (20652328)
2010
13
Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy. (19654516)
2009
14
The use of CDME in cystinosis research. (18427982)
2008
15
Renal cell carcinoma in a patient with cystinosis and inflammatory bowel disease: a case report. (18286306)
2008
16
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. (18178779)
2008
17
A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)
2006
18
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
19
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. (15365816)
2004
20
Cystinosis. (12110740)
2002
21
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. (12138140)
2002
22
Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. (12425721)
2002
23
Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis. (11862089)
2002
24
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. (11001803)
2000
25
Gastrostomy buttons for nutritional support in children with cystinosis. (10955939)
2000
26
Cysteamine: new preparation. Chronic treatment of cystinosis. (10558441)
1999
27
A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis. (9758713)
1998
28
Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group. (7663525)
1995
29
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
30
Pituitary-testicular function in nephropathic cystinosis. (8363167)
1993
31
Captopril is not clinically useful in reducing the cystine load in cystinuria or cystinosis. (2025551)
1991
32
Cystinosis. (2668970)
1989
33
Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis. (3688102)
1987
34
Nephropathic cystinosis with central nervous system involvement. (3674101)
1987
35
Infantile cystinosis and insulin-dependent diabetes mellitus. (3816859)
1986
36
Cystinosis. (3833778)
1985
37
Pituitary secretion of alpha and beta subunits of thyroid-stimulating hormone (TSH) in nephropathic cystinosis. (6202655)
1984
38
Circulating vitamin D metabolites in nephropathic cystinosis. (6601186)
1983
39
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. (7112129)
1982
40
Infantile cystinosis: a reappraisal of early and late symptoms. (6791467)
1981
41
Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents. (7246131)
1981
42
Treatment of cystinosis with cysteamine. A pilot study determining dose and form of application. (7031022)
1981
43
Glomerular lesions in patients with late-onset cystinosis with massive proteinuria. (7034094)
1980
44
Pituitary resistance to thyroid hormone in cystinosis. (6777391)
1980
45
Cystinosis with Fanconi's syndrome. A case report. (694607)
1978
46
Endocrine studies in cystinosis: compensated primary hypothyroidism. (406375)
1977
47
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. (932205)
1976
48
Ocular manifestations in cystinosis. (782593)
1976
49
Treatment of cystinosis by a cystine- and methionine-poor diet plus anabolic steroid: treatment of two children and survey of previous treatment results. (975941)
1976
50
Rapid, simplified diagnosis of cystinosis in conjunctival biopsies. (1192596)
1975

Genetic Variations for Cystinosis

Expression for genes affiliated with Cystinosis

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Cystinosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cystinosis

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Cystinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyroglutamate4510.4GSS, OPLAH
2anastrozole45 1111.3GH1, CGA
3leuprolide acetate4510.3CGA, GH1
4cystine4510.3GSS, CGA, CTNS
5cysteamine45 11 2412.2VNN1, GH1
6cobalamin45 2411.2LRP2, CUBN
7clomiphene citrate4510.2GH1, CGA
8intralipid4510.1LCAT, GH1
9vitamin d4510.1CGA, GH1, LRP2, CUBN
10metoclopramide45 1110.9GH1, CGA

GO Terms for genes affiliated with Cystinosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 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