MCID: CYS010
MIFTS: 57

Cystinosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories

Summaries for Cystinosis

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NIH Rare Diseases:41 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, and has symptoms including abnormality of the genital system, abnormality of the renal tubule and proteinuria. 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:63 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews summary for ctns

Aliases & Classifications for Cystinosis

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 20GeneTests, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cystinosis, Aliases & Descriptions:

Name: Cystinosis 9 19 41 21 11 43 47 20 22
Cystine Storage Disease 9 41 21
Protein Defect of Cystin Transport 41 47
Nephropathic Cystinosis 60
 
Cystine Diathesis 41
Cystine Disease 41
Cystinoses 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
cystinosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (Germany),1-9/100000 (United Kingdom),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: any age


External Ids:

Disease Ontology9 DOID:1064
NCIt38 C2976
Orphanet47 213
MESH via Orphanet34 D003554
ICD10 via Orphanet26 E72.0
UMLS via Orphanet61 C0010690

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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Symptoms:

 47 (show all 35)
  • corneal clouding/opacity/vascularisation
  • photophobia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal disease/nephropathy
  • renal tubular defect/tubulopathy
  • proteinuria
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • hypothyroidy
  • insulin-dependent/type 1 diabetes
  • late puberty/hypogonadism/hypogenitalism
  • tics/stereotypias
  • myopathy
  • muscle weakness/flaccidity
  • hypokalemia
  • hypophosphatemia
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • thirst
  • dehydration/hydroelectrolytic loss
  • asthenia/fatigue/weakness
  • retinopathy
  • renal failure
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mild visual loss/impaired visual acuity
  • malabsorption/chronic diarrhea/steatorrhea
  • portal hypertension
  • cranial nerves palsy
  • abnormal gait
  • pyramidal syndrome
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • fever/chilling

HPO human phenotypes related to Cystinosis:

(show all 30)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 abnormality of the renal tubule hallmark (90%) HP:0000091
3 proteinuria hallmark (90%) HP:0000093
4 nephropathy hallmark (90%) HP:0000112
5 photophobia hallmark (90%) HP:0000613
6 stereotypic behavior hallmark (90%) HP:0000733
7 hypothyroidism hallmark (90%) HP:0000821
8 diabetes insipidus hallmark (90%) HP:0000873
9 muscle weakness hallmark (90%) HP:0001324
10 dehydration hallmark (90%) HP:0001944
11 nausea and vomiting hallmark (90%) HP:0002017
12 hypophosphatemia hallmark (90%) HP:0002148
13 hypokalemia hallmark (90%) HP:0002900
14 myopathy hallmark (90%) HP:0003198
15 aminoaciduria hallmark (90%) HP:0003355
16 short stature hallmark (90%) HP:0004322
17 opacification of the corneal stroma hallmark (90%) HP:0007759
18 type i diabetes mellitus hallmark (90%) HP:0100651
19 renal insufficiency typical (50%) HP:0000083
20 retinopathy typical (50%) HP:0000488
21 reduced bone mineral density typical (50%) HP:0004349
22 visual impairment occasional (7.5%) HP:0000505
23 gait disturbance occasional (7.5%) HP:0001288
24 portal hypertension occasional (7.5%) HP:0001409
25 malabsorption occasional (7.5%) HP:0002024
26 neurological speech impairment occasional (7.5%) HP:0002167
27 abnormality of temperature regulation occasional (7.5%) HP:0004370
28 cranial nerve paralysis occasional (7.5%) HP:0006824
29 abnormality of pyramidal motor function occasional (7.5%) HP:0007256
30 cognitive impairment occasional (7.5%) HP:0100543

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 UMLS60/NDF-RT39:

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:

31
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:

35
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 527)
idTitleAuthorsYear
1
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
2
Common mutation causes cystinosis in the majority of black South African patients. (25326109)
2014
3
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. (25071085)
2014
4
Cystinosis with Sclerotic Bone Lesions. (24097416)
2013
5
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
6
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. (23001048)
2013
7
Diagnosis of cystinosis from a bone marrow aspirate. (22911541)
2013
8
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
9
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
10
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
11
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. (22528245)
2012
12
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
13
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
14
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
15
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
16
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
17
A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)
2006
18
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
19
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
20
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
21
Bone marrow findings in hereditary cystinosis with renal failure. (15114603)
2004
22
New aspects of the pathogenesis of cystinosis. (12644911)
2003
23
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
24
Ultrasound biomicroscopy of the eye in cystinosis. (11030813)
2000
25
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)
2000
26
Mutations of CTNS causing intermediate cystinosis. (10444339)
1999
27
Utility of bone imaging in differentiation of pulmonary metastatic calcification from cystine crystal deposition in cystinosis. (9442975)
1998
28
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
29
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
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 (show all 21)
id Gene Variation 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.559_561+24del27deletionPathogenicrs113994211GRCh37Chr 17, 3559878: 3559904
6CTNSNM_001031681.2(CTNS): c.283G> T (p.Gly95Ter)single nucleotide variantPathogenicrs121908124GRCh37Chr 17, 3558349: 3558349
7CTNSCTNS, 2-BP DEL, 397TGdeletionPathogenic
8CTNSNM_001031681.2(CTNS): c.414G> A (p.Trp138Ter)single nucleotide variantPathogenicrs113994205GRCh37Chr 17, 3558599: 3558599
9CTNSCTNS, 4-BP DEL, 18GACTdeletionPathogenic
10CTNSNC_000017.11: g.3600934_3658165del57232deletionPathogenicGRCh37Chr 17, 3504228: 3561459
11CTNSNM_001031681.2(CTNS): c.506G> A (p.Gly169Asp)single nucleotide variantPathogenicrs121908126GRCh37Chr 17, 3559825: 3559825
12CTNSCTNS, IVS7AS, C-G, -10single nucleotide variantPathogenic
13CTNSNM_001031681.2(CTNS): c.853-3C> Gsingle nucleotide variantPathogenicrs113994210GRCh37Chr 17, 3563149: 3563149
14CTNSCTNS, 5-BP DEL, NT545deletionPathogenic
15CTNSNM_001031681.2(CTNS): c.589G> A (p.Gly197Arg)single nucleotide variantPathogenicrs113994207GRCh37Chr 17, 3559997: 3559997
16CTNSCTNS, -295G-Csingle nucleotide variantPathogenic
17CTNSCTNS, -303G-Tsingle nucleotide variantPathogenic
18CTNSCTNS, 1-BP INS, -303TinsertionPathogenic
19CTNSNM_001031681.2(CTNS): c.1015G> A (p.Gly339Arg)single nucleotide variantPathogenicrs121908127GRCh37Chr 17, 3563574: 3563574
20CTNSNM_001031681.2(CTNS): c.969C> G (p.Asn323Lys)single nucleotide variantPathogenicrs121908128GRCh37Chr 17, 3563268: 3563268
21CTNSNM_001031681.2(CTNS): c.416C> T (p.Ser139Phe)single nucleotide variantPathogenicrs267606754GRCh37Chr 17, 3558601: 3558601

Expression for genes affiliated with Cystinosis

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Search GEO for disease gene expression data for Cystinosis.

Pathways for genes affiliated with Cystinosis

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Pathways related to Cystinosis according to GeneCards Suite gene sharing:

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:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Cystinosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cystine439.7CGA, CTNS
2dbc-amp439.6CGA, LRP2
3sialic acid439.5CGA, CTNS
4vitamin a43 24 1211.5CGA, LRP2
5thyroxine43 2410.4LRP2, CGA
6folate439.2CGA, LRP2

GO Terms for genes affiliated with Cystinosis

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Cellular components related to Cystinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.2CTNS, SQSTM1
2lysosomeGO:00057648.5CTNS, SQSTM1, LRP2

Products for genes affiliated with Cystinosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cystinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet