MCID: CYS010
MIFTS: 53

Cystinosis malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Cystinosis

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cystinosis:

Name: Cystinosis 10 21 45 22 23 47 12 51 36 24
Cystine Storage Disease 10 45 23
Protein Defect of Cystin Transport 51
Nephropathic Cystinosis 65
 
Cystine Diathesis 45
Cystine Disease 45
Cystinoses 45

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Disease Ontology10 DOID:1064
ICD1027 E72.04
MeSH36 D003554
NCIt42 C2976
Orphanet51 213
ICD10 via Orphanet28 E72.0
MESH via Orphanet37 D003554
UMLS via Orphanet66 C0010690
UMLS65 C2931187

Summaries for Cystinosis

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NIH Rare Diseases:45 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 cystinosis, nephropathic and cystinosis, ocular nonnephropathic, 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). The drugs cysteamine and cysteamine bitartrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid, and related mouse phenotype renal/urinary system.

Disease Ontology:10 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17.

Genetics Home Reference:23 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:68 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews summary for NBK1400

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:

 51 (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 abnormal pyramidal signs occasional (7.5%) HP:0007256
30 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Cystinosis:


photophobia, polydipsia, polyuria, hepatomegaly

Drugs & Therapeutics for Cystinosis

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Drugs for Cystinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 4, Phase 3, Phase 2, Phase 12360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2
AcetylcysteineapprovedPhase 4293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
3N-monoacetylcystinePhase 4293
4Protective AgentsPhase 45651
5ExpectorantsPhase 4337
6Respiratory System AgentsPhase 43931
7Anti-Infective AgentsPhase 417220
8AntioxidantsPhase 42442
9Antiviral AgentsPhase 48071
10cysteineNutraceuticalPhase 4150
11TetrahydrozolinePhase 2, Phase 1542
12Pharmaceutical SolutionsPhase 27004
13Ophthalmic SolutionsPhase 2, Phase 11006
14Peripheral Nervous System AgentsPhase 018510
15Dermatologic AgentsPhase 04555
16
CapsaicinPhase 0144404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin
17AntipruriticsPhase 0619

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1N Acetyl Cysteine for Cystinosis PatientsCompletedNCT01614431Phase 4
2Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684Phase 4
3Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With CystinosisCompletedNCT01000961Phase 3
4Safety/Effectiveness Study of Cysteamine Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With CystinosisActive, not recruitingNCT01744782Phase 3
5Open-Label Safety & Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in CystinosisActive, not recruitingNCT01733316Phase 3
6Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)Active, not recruitingNCT01197378Phase 3
7Cysteamine Eye Drops to Treat Corneal Crystals in CystinosisCompletedNCT00001213Phase 2
8Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With CystinosisCompletedNCT00872729Phase 1, Phase 2
9First Study of Oral Cysteamine in Cystic FibrosisCompletedNCT02212431Phase 1, Phase 2
10Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisWithdrawnNCT02124070Phase 1, Phase 2
11New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in CystinosisCompletedNCT00001736Phase 1
12The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis PatientsCompletedNCT02533076Phase 0
13The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control StudyCompletedNCT00071903
14Clinical and Biological Study of Sub-pigmentation During Infantile CystinosisCompletedNCT00822250
15Kidney Transplantation in Patients With CystinosisCompletedNCT00074516
16Evaluation of Fanconi Syndrome and CystinosisCompletedNCT00004350
17Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic CystinosisCompletedNCT00004312
18Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With CystinosisCompletedNCT00010426
19Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™CompletedNCT01432561
20Salivary Proteins in Disease and HealthCompletedNCT00100204
21Efficacy of Topical Cysteamine in Nephropathic CyctinosisCompletedNCT02766855
22Cure Cystinosis International RegistryRecruitingNCT01327807
23A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological ComplicationsRecruitingNCT02012114

Search NIH Clinical Center for Cystinosis

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

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Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis22 CTNS

Anatomical Context for Cystinosis

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MalaCards organs/tissues related to Cystinosis:

33
Kidney, Eye, Thyroid, Pancreas, Testes, Bone, Heart

Animal Models for Cystinosis or affiliated genes

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MGI Mouse Phenotypes related to Cystinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3CTNS, CUBN, LCAT, LRP2, TRPV1

Publications for Cystinosis

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Articles related to Cystinosis:

(show top 50)    (show all 553)
idTitleAuthorsYear
1
Altered mTOR signalling in nephropathic cystinosis. (26909499)
2016
2
Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis. (26523297)
2015
3
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
4
Common mutation causes cystinosis in the majority of black South African patients. (25326109)
2014
5
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. (25071085)
2014
6
Cystinosis with Sclerotic Bone Lesions. (24097416)
2013
7
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
8
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. (23001048)
2013
9
Diagnosis of cystinosis from a bone marrow aspirate. (22911541)
2013
10
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
11
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
12
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
13
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. (22528245)
2012
14
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
15
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
16
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
17
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
18
A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)
2006
19
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
20
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
21
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
22
Bone marrow findings in hereditary cystinosis with renal failure. (15114603)
2004
23
New aspects of the pathogenesis of cystinosis. (12644911)
2003
24
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
25
Ultrasound biomicroscopy of the eye in cystinosis. (11030813)
2000
26
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)
2000
27
Mutations of CTNS causing intermediate cystinosis. (10444339)
1999
28
Utility of bone imaging in differentiation of pulmonary metastatic calcification from cystine crystal deposition in cystinosis. (9442975)
1998
29
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
30
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
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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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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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
1lysosomal membraneGO:00057659.4CTNS, CUBN, PQLC2
2late endosomeGO:00057709.4CTNS, RAB27A

Biological processes related to Cystinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:00065209.7CTNS, GSS
2lipoprotein transportGO:00429539.6CUBN, LRP2

Sources for Cystinosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet