MCID: CYS010
MIFTS: 51

Cystinosis malady

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

Aliases & Classifications for Cystinosis

About this section
Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 25GTR, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Cystinosis:

Name: Cystinosis 11 22 46 23 24 13 52 48 37 25
Cystine Storage Disease 11 46 24
Protein Defect of Cystin Transport 52
Nephropathic Cystinosis 66
 
Cystine Diathesis 46
Cystine Disease 46
Cystinoses 46

Characteristics:

Orphanet epidemiological data:

52
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),1-9/100000 (Europe),1-9/1000000 (Denmark),1-9/1000000 (Sweden),1-9/100000; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:1064
ICD1028 E72.04
MeSH37 D003554
NCIt43 C2976
Orphanet52 ORPHA213
ICD10 via Orphanet29 E72.0
MESH via Orphanet38 D003554
UMLS via Orphanet67 C0010690

Summaries for Cystinosis

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NIH Rare Diseases:46 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.

Disease Ontology:11 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:24 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:69 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:

 52 (show all 33)
  • renal insufficiency
  • proteinuria
  • nephropathy
  • renal tubular dysfunction
  • retinopathy
  • visual impairment
  • photophobia
  • stereotypic behavior
  • hypothyroidism
  • delayed puberty
  • intellectual disability, mild
  • gait disturbance
  • muscle weakness
  • portal hypertension
  • failure to thrive
  • dehydration
  • fever
  • polydipsia
  • vomiting
  • malabsorption
  • hypophosphatemia
  • dysphasia
  • rickets
  • hypokalemia
  • myopathy
  • aminoaciduria
  • short stature
  • cranial nerve paralysis
  • abnormal pyramidal signs
  • corneal opacity
  • nephrogenic diabetes insipidus
  • fatigue
  • type i diabetes mellitus

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 stereotypy 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:


hepatomegaly, polyuria, polydipsia, photophobia

Drugs & Therapeutics for Cystinosis

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteinePhase 4304616-91-112035
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
2
CysteaminePhase 4, Phase 3, Phase 2, Phase 12660-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
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
3cysteineNutraceuticalPhase 4166
4
MethamphetaminePhase 2, Phase 1216537-46-210836
Synonyms:
(+ )-Methylamphetamine
(+ )-methylamphetamine
(+)-(S)-Deoxyephedrine
(+)-(S)-N-alpha-Dimethylphenethylamine
(+)-(S)-N-alpha-dimethylphenethylamine
(+)-(S)-N-α-dimethylphenethylamine
(+)-(S)-deoxyephedrine
(+)-(s)-deoxyephedrine
(+)-(s)-n-alpha-dimethylphenethylamine
(+)-2-(N-Methylamino)-1-phenylpropane
(+)-Methylamphetamine
(+)-N,alpha-Dimethyl-beta-phenylethylamine
(+)-N,alpha-Dimethylphenethylamine
(+)-N,alpha-dimethyl-beta-phenylethylamine
(+)-N,alpha-dimethylphenethylamine
(+)-N-Methylamphetamine
(+)-N-methylamphetamine
(+)-methamphetamine
(+)-methylamphetamine
(+)-n,alpha-dimethyl-beta-phenylethylamine
(+)-n,alpha-dimethylphenethylamine
(+)-n-methylamphetamine
(2S)-N-methyl-1-phenylpropan-2-amine
(AlphaS)-N,alpha-dimethylbenzeneethanamine
(S)-(+)-Deoxyephedrine
(S)-(+)-Methamphetamine
(S)-(+)-N,alpha,dimethylphenethylamine
(S)-(+)-deoxyephedrine
(S)-(+)-methamphetamine
(S)-Methamphetamine
(S)-Methylamphetamine
(S)-N,alpha-Dimethylbenzeneethanamine
(S)-N,alpha-Dimethylbenzeneethanoamine
(S)-N,alpha-dimethylbenzeneethanamine
(S)-N,alpha-dimethylbenzeneethanoamine
(S)-N,α-dimethylbenzeneethanamine
(S)-methamphetamine
(S)-methylamphetamine
(alphaS)-N,alpha-dimethylbenzeneethanamine
(s)-(+)-deoxyephedrine
(s)-(+)-methamphetamine
(s)-(+)-n,alpha,dimethylphenethylamine
(s)-methamphetamine
(s)-methylamphetamine
(s)-n,alpha-dimethylbenzeneethanamine
(s)-n,alpha-dimethylbenzeneethanoamine
(αS)-N,α-dimethylbenzeneethanamine
1-Phenyl-2-methylamino-propan
1-Phenyl-2-methylamino-propan [German]
1-Phenyl-2-methylaminopropane
139-47-9
14611-50-8
1690-86-4
2S-(+)-Methamphetamine
45952-89-4
537-46-2
AC1L1W1Z
AC1Q4SVR
B40
Benzeneethanamine, N,alpha-dimethyl-, (S)- (9CI)
Benzeneethanamine, N,alpha-dimethyl-, (alphaS)- (9CI)
C07164
C10H15N
CHEBI:6809
CHEMBL1201201
CID10836
Crank
Crank [Street Name]
Crystal Meth
Crystal Meth [Street Name]
D-(S)-Methamphetamine
D-(s)-methamphetamine
D-1-Phenyl-2-methylaminopropan
D-1-Phenyl-2-methylaminopropan [German]
D-1-Phenyl-2-methylaminopropane
D-Deoxyephedrine
D-Desoxyephedrine
D-Methamphetamine
D-Methylamphetamine
D-N,alpha-Dimethylphenethylamine
D-N,alpha-dimethylphenethylamine
D-N-Methylamphetamine
D-Phenylisopropylmethylamine
D-deoxyephedrine
D-desoxyephedrine
D-methamphetamine
D-methylamphetamine
 
D-n,alpha-dimethylphenethylamine
D-n-methylamphetamine
D-phenylisopropylmethylamine
D08187
DB01577
DEA No. 1105
Desoxyephedrine hydrochloride
Desoxyn
Desyphed
Desyphed hydrochloride
Dextromethamphetamine
EINECS 208-668-7
HSDB 3359
ICE [Street Name]
Ice
L-Methamphetamine
L-methamphetamine
LS-103331
METHAMPHETAMINE
Metamfetamina
Metamfetamina [INN-Spanish]
Metamfetamina [inn-spanish]
Metamfetamine
Metamfetamine (INN)
Metamfetamine [INN]
Metamfetamine-m
Metamfetaminum
Metamfetaminum [INN-Latin]
Metamfetaminum [Latin]
Metamfetaminum [inn-latin]
Metamphetamine
Metanfetamina
Metanfetamina [INN-Spanish]
Metanfetamina [Spanish]
Metanfetamina [inn-spanish]
Meth
Meth (Street Name)
Methamphetamine
Methamphetamine, its salts, isomers, and salts of its isomers
Methamphetaminum
Methamphetaminum [INN-Latin]
Methamphetaminum [JP]
Methamphetaminum [inn-latin]
Methyl-.beta.-phenylisopropylamine
Methyl-beta-phenylisopropylamine
Methylamphetamine
MolPort-001-794-405
Métamfétamine
N-Methyl-1-phenyl-2-propanamine
N-Methyl-beta-phenylisopropylamin
N-Methyl-beta-phenylisopropylamin [German]
N-Methyl-beta-phenylisopropylamin [german]
N-Methyl-beta-phenylisopropylamine
N-Methylamphetamine
N-methyl-beta-phenylisopropylamin [german]
N-methyl-beta-phenylisopropylamine
N-methylamphetamine
NSC 25115
NSC25115
Norodin
PDSP1_001404
PDSP1_001405
PDSP2_001388
PDSP2_001389
Phenethylamine, N,alpha-dimethyl-, (S)-(+)- (8CI)
S-(+)-Methamphetamine
S-(+)-methamphetamine
Speed
Speed [Street Name]
Stimulex
UNII-44RAL3456C
WLN: 1MY1&1R -D
d-(S)-Methamphetamine
d-1-Phenyl-2-methylaminopropan [German]
d-1-phenyl-2-methylaminopropane
d-Deoxyephedrine
d-Desoxyephedrine
d-Methamphetamine
d-Methylamphetamine
d-N,.alpha.-Dimethylphenethylamine
d-N-Methylamphetamine
d-N-methylamphetamine
d-Phenylisopropylmethylamine
d-deoxyephedrine
d-desoxyephedrine
d-phenylisopropylmethylamine
desohyephedrine
methyl-β-phenylisopropylamine
5
DopaminePhase 2, Phase 1367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
6
CapsaicinPhase 0163404-86-41548943
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

Interventional clinical trials:

(show all 24)
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
23Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis DiseaseRecruitingNCT02837523
24A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological ComplicationsRecruitingNCT02012114

Search NIH Clinical Center for Cystinosis

Inferred drug relations via UMLS66/NDF-RT44:


Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

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Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis25 23 CTNS

Anatomical Context for Cystinosis

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MalaCards organs/tissues related to Cystinosis:

34
Kidney, Eye, Thyroid, Testes, Pancreas, Bone, Bone marrow

Animal Models for Cystinosis or affiliated genes

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Publications for Cystinosis

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Articles related to Cystinosis:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Altered mTOR signalling in nephropathic cystinosis. (26909499)
2016
2
Cystinosis: a review. (27102039)
2016
3
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
4
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. (26266097)
2015
5
Management dilemmas in pediatric nephrology: Cystinosis. (25956701)
2015
6
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
7
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. (23001048)
2013
8
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. (23775203)
2013
9
Cystinosis encephalopathy: MRI perivascular enhancement with micronodular T2* hypointensity. (23601359)
2013
10
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
11
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
12
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
13
Infantile nephropathic cystinosis. (21980659)
2011
14
Fertility status in male cystinosis patients treated with cysteamine. (19217094)
2010
15
Renal phenotype of the cystinosis mouse model is dependent upon genetic background. (19846395)
2010
16
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
17
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
18
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
19
Cystinosis of the brain and spinal cord with associated vasculopathy. (19395024)
2009
20
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
21
Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity. (17668247)
2008
22
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
23
Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. (17136701)
2006
24
Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. (16133039)
2005
25
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. (12204010)
2002
26
Cystinosis. (12110740)
2002
27
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
28
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)
2000
29
The Fanconi syndrome of cystinosis: insights into the pathophysiology. (9745876)
1998
30
Myopathy in two siblings with nephropathic cystinosis. (10210897)
1998
31
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13. (8812732)
1996
32
Effect of growth hormone treatment on glucose tolerance in a patient with cystinosis after kidney transplantation. (7623425)
1995
33
Successful pregnancy in cystinosis. (7933391)
1994
34
Global intellectual deficits in cystinosis. (8172256)
1994
35
Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis. (2021367)
1991
36
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
37
Patient follow-up--cystinosis. (2723977)
1989
38
Cystinosis. (2672222)
1989
39
Neurologic and cognitive deficits in children with cystinosis. (3373397)
1988
40
Cystinosis phenotypes have identical defective cystine clearance pattern. (3452423)
1987
41
Cystinosis coming of age. (3541536)
1986
42
Cerebral atrophy and nephropathic cystinosis. (3707194)
1986
43
Cystinosis. (3833778)
1985
44
Lysosomal cystine storage in cystinosis and mucolipidosis type II. (4069825)
1985
45
Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of glycine cleavage system in vitro. (7289883)
1981
46
Uptake of cystine by cystine-depleted fibroblasts from patients with cystinosis. (7213388)
1981
47
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979
48
Long-term ocular changes in cystinosis: observations in renal transplant recipients. (374702)
1979
49
Cystinosis with Fanconi's syndrome. A case report. (694607)
1978
50
Transport of L-cystine by cultivated skin fibroblasts of normal subjects and patients with cystinosis. (934729)
1976

Variations for Cystinosis

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Clinvar genetic disease variations for Cystinosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CTNSNM_004937.2(CTNS): c.323delA (p.Gln108Argfs)deletionPathogenicGRCh37Chr 17, 3558389: 3558389
2CTNSNM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs)deletionPathogenicGRCh38Chr 17, 3655029: 3655030
3CTNSNM_004937.2: c.661insTinsertionPathogenic
4CTNSNM_001031681.2(CTNS): c.91dupG (p.Val31Glyfs)duplicationPathogenicGRCh38Chr 17, 3647473: 3647473
5CTNSNM_004937.2(CTNS): c.120delC (p.Asn41Thrfs)deletionPathogenicGRCh37Chr 17, 3550796: 3550796

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
1brush borderGO:000590310.1CUBN, LRP2
2clathrin-coated pitGO:000590510.1CUBN, LRP2
3brush border membraneGO:00315269.7CUBN, LRP2
4endocytic vesicleGO:00301399.4CUBN, LRP2
5lysosomeGO:00057649.2CTNS, LRP2, RAB27A
6lysosomal membraneGO:00057659.2CTNS, CUBN, LRP2, PQLC2
7apical plasma membraneGO:00163249.0CUBN, LRP2, RAB27A

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

idNameGO IDScoreTop Affiliating Genes
1lipoprotein transportGO:00429539.9CUBN, LRP2
2vitamin D metabolic processGO:00423599.7CUBN, LRP2
3cellular amino acid metabolic processGO:00065209.1CTNS, GSS

Molecular functions related to Cystinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel activityGO:00052169.5P2RX5, TRPV1

Sources for Cystinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet