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, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cystinosis:

Name: Cystinosis 11 23 47 24 25 53 49 38 13 26
Cystine Storage Disease 11 47 25
Protein Defect of Cystin Transport 53
Nephropathic Cystinosis 67
 
Cystine Diathesis 47
Cystine Disease 47
Cystinoses 47

Characteristics:

Orphanet epidemiological data:

53
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
ICD1029 E72.04
MeSH38 D003554
NCIt44 C2976
Orphanet53 ORPHA213
MESH via Orphanet39 D003554
UMLS via Orphanet68 C0010690
ICD10 via Orphanet30 E72.0

Summaries for Cystinosis

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Genetics Home Reference:25 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.

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 bitartrate and cysteamine 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:11 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17.

Wikipedia:70 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews 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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Human phenotypes related to Cystinosis:

 63 53 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system63 hallmark (90%) HP:0000078
2 abnormality of the renal tubule63 hallmark (90%) HP:0000091
3 proteinuria63 53 hallmark (90%) Very frequent (99-80%) HP:0000093
4 nephropathy63 53 hallmark (90%) Very frequent (99-80%) HP:0000112
5 photophobia63 53 hallmark (90%) Very frequent (99-80%) HP:0000613
6 stereotypy63 53 hallmark (90%) Very frequent (99-80%) HP:0000733
7 hypothyroidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000821
8 diabetes insipidus63 hallmark (90%) HP:0000873
9 muscle weakness63 53 hallmark (90%) Very frequent (99-80%) HP:0001324
10 dehydration63 53 hallmark (90%) Very frequent (99-80%) HP:0001944
11 nausea and vomiting63 hallmark (90%) HP:0002017
12 hypophosphatemia63 53 hallmark (90%) Very frequent (99-80%) HP:0002148
13 hypokalemia63 53 hallmark (90%) Very frequent (99-80%) HP:0002900
14 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
15 aminoaciduria63 53 hallmark (90%) Very frequent (99-80%) HP:0003355
16 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
17 opacification of the corneal stroma63 hallmark (90%) HP:0007759
18 type i diabetes mellitus63 53 hallmark (90%) Very frequent (99-80%) HP:0100651
19 renal insufficiency63 53 typical (50%) Frequent (79-30%) HP:0000083
20 retinopathy63 53 typical (50%) Frequent (79-30%) HP:0000488
21 reduced bone mineral density63 typical (50%) HP:0004349
22 visual impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000505
23 gait disturbance63 53 occasional (7.5%) Occasional (29-5%) HP:0001288
24 portal hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0001409
25 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
26 neurological speech impairment63 occasional (7.5%) HP:0002167
27 abnormality of temperature regulation63 occasional (7.5%) HP:0004370
28 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
29 abnormal pyramidal signs63 53 occasional (7.5%) Occasional (29-5%) HP:0007256
30 cognitive impairment63 occasional (7.5%) HP:0100543
31 renal tubular dysfunction53 Very frequent (99-80%)
32 delayed puberty53 Very frequent (99-80%)
33 intellectual disability, mild53 Occasional (29-5%)
34 failure to thrive53 Very frequent (99-80%)
35 fever53 Occasional (29-5%)
36 polydipsia53 Very frequent (99-80%)
37 vomiting53 Very frequent (99-80%)
38 dysphasia53 Occasional (29-5%)
39 rickets53 Frequent (79-30%)
40 corneal opacity53 Very frequent (99-80%)
41 nephrogenic diabetes insipidus53 Very frequent (99-80%)
42 fatigue53 Very frequent (99-80%)

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 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 4, Phase 3, Phase 2, Phase 12760-23-16058
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
2
AcetylcysteineapprovedPhase 4316616-91-112035
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 4316
4ExpectorantsPhase 4388
5Respiratory System AgentsPhase 44818
6Protective AgentsPhase 47190
7AntidotesPhase 41038
8AntioxidantsPhase 42928
9Anti-Infective AgentsPhase 421402
10Antiviral AgentsPhase 49732
11cysteineNutraceuticalPhase 4190
12
Methamphetamineapproved, illicitPhase 2, Phase 1232537-46-210836
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
13
DopamineapprovedPhase 2, Phase 1375951-61-6, 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
14Ophthalmic SolutionsPhase 2, Phase 11092
15Peripheral Nervous System AgentsPhase 2, Phase 1, Early Phase 122776
16TetrahydrozolinePhase 2, Phase 1593
17Neurotransmitter Uptake InhibitorsPhase 2, Phase 13464
18Pharmaceutical SolutionsPhase 27793
19Central Nervous System StimulantsPhase 2, Phase 12132
20Adrenergic AgentsPhase 2, Phase 15140
21Neurotransmitter AgentsPhase 2, Phase 117734
22Autonomic AgentsPhase 2, Phase 19774
23Dopamine AgentsPhase 2, Phase 13759
24Dopamine Uptake InhibitorsPhase 2, Phase 11305
25
CapsaicinapprovedEarly Phase 1166404-86-41548943
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
26Dermatologic AgentsEarly Phase 15674
27AntipruriticsEarly Phase 1864

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
12A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological ComplicationsUnknown statusNCT02012114
13The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis PatientsCompletedNCT02533076Early Phase 1
14Clinical and Biological Study of Sub-pigmentation During Infantile CystinosisCompletedNCT00822250
15Kidney Transplantation in Patients With CystinosisCompletedNCT00074516
16The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control StudyCompletedNCT00071903
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
19Evaluation of Fanconi Syndrome and CystinosisCompletedNCT00004350
20Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™CompletedNCT01432561
21Efficacy of Topical Cysteamine in Nephropathic CyctinosisCompletedNCT02766855
22Salivary Proteins in Disease and HealthCompletedNCT00100204
23Cure Cystinosis International RegistryRecruitingNCT01327807
24Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis DiseaseRecruitingNCT02837523

Search NIH Clinical Center for Cystinosis

Inferred drug relations via UMLS67/NDF-RT45:


Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

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Genetic tests related to Cystinosis:

id Genetic test Affiliating Genes
1 Cystinosis26 24 CTNS

Anatomical Context for Cystinosis

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MalaCards organs/tissues related to Cystinosis:

35
Kidney, Eye, Thyroid, Testes, Pancreas, Bone, Bone marrow

Animal Models for Cystinosis or affiliated genes

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MGI Mouse Phenotypes related to Cystinosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5CTNS, CUBN, LCAT, LRP2, TRPV1

Publications for Cystinosis

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Articles related to Cystinosis:

(show top 50)    (show all 566)
idTitleAuthorsYear
1
Efficacy of topical cysteamine in nephropathic cystinosis. (28057644)
2017
2
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. (27858370)
2016
3
Altered mTOR signalling in nephropathic cystinosis. (26909499)
2016
4
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
5
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. (26266097)
2015
6
Management dilemmas in pediatric nephrology: Cystinosis. (25956701)
2015
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
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. (23775203)
2013
10
Cystinosis encephalopathy: MRI perivascular enhancement with micronodular T2* hypointensity. (23601359)
2013
11
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate. (22832073)
2012
12
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. (22209718)
2012
13
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
14
Infantile nephropathic cystinosis. (21980659)
2011
15
Fertility status in male cystinosis patients treated with cysteamine. (19217094)
2010
16
Renal phenotype of the cystinosis mouse model is dependent upon genetic background. (19846395)
2010
17
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
18
Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. (19294426)
2009
19
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
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 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CTNSNM_004937.2(CTNS): c.614_616delACG (p.Asp205del)deletionLikely pathogenic, Pathogenicrs760256854GRCh37Chr 17, 3560022: 3560024
2CTNSNM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs)deletionPathogenicrs786204501GRCh37Chr 17, 3543518: 3543521
3CTNSNM_004937.2(CTNS): c.323delA (p.Gln108Argfs)deletionPathogenicrs879255615GRCh37Chr 17, 3558389: 3558389
4CTNSNM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs)deletionPathogenicrs879255614GRCh38Chr 17, 3655029: 3655030
5CTNSNM_004937.2: c.661insTinsertionPathogenicChr na, -1: -1
6CTNSNM_001031681.2(CTNS): c.91dupG (p.Val31Glyfs)duplicationPathogenicrs879255613GRCh38Chr 17, 3647473: 3647473
7CTNSNM_004937.2(CTNS): c.120delC (p.Asn41Thrfs)deletionPathogenicrs879255616GRCh37Chr 17, 3550796: 3550796
8CTNSNM_004937.2(CTNS): c.382C> T (p.Gln128Ter)SNVPathogenicrs550254092GRCh37Chr 17, 3558567: 3558567
9CTNSNM_004937.2(CTNS): c.397A> T (p.Ile133Pro)SNVPathogenicrs886040970GRCh37Chr 17, 3558582: 3558582
10CTNSNM_004937.2(CTNS): c.544T> C (p.Trp182Arg)SNVPathogenicrs764168489GRCh37Chr 17, 3559863: 3559863
11CTNSNM_004937.2(CTNS): c.922G> A (p.Gly308Arg)SNVPathogenicrs746307931GRCh37Chr 17, 3563221: 3563221
12CTNSCTNS, 4-BP DEL, 18GACTdeletionPathogenicChr na, -1: -1
13CTNSNC_000017.11: g.3600934_3658165del57232deletionPathogenicGRCh37Chr 17, 3504228: 3561459
14CTNSNM_004937.2(CTNS): c.124G> A (p.Val42Ile)SNVPathogenicrs35086888GRCh37Chr 17, 3550800: 3550800
15CTNSNM_004937.2(CTNS): c.589G> A (p.Gly197Arg)SNVLikely pathogenic, Pathogenicrs113994207GRCh37Chr 17, 3559997: 3559997
16CTNSNM_004937.2(CTNS): c.416C> T (p.Ser139Phe)SNVLikely pathogenic, Pathogenicrs267606754GRCh37Chr 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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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:000590310.3CUBN, LRP2
2clathrin-coated pitGO:000590510.3CUBN, LRP2
3brush border membraneGO:003152610.1CUBN, LRP2
4endocytic vesicleGO:00301399.8CUBN, LRP2
5lysosomal membraneGO:00057659.4CTNS, CUBN, LRP2, PQLC2
6lysosomeGO:00057649.4CTNS, LRP2, RAB27A
7apical plasma membraneGO:00163249.2CUBN, LRP2, RAB27A
8extracellular exosomeGO:00700627.2CTNS, CUBN, GSS, LCAT, LRP2, RAB27A

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

idNameGO IDScoreTop Affiliating Genes
1lipoprotein transportGO:004295310.1CUBN, LRP2
2lipoprotein metabolic processGO:004215710.1CUBN, LCAT
3vitamin D metabolic processGO:00423599.9CUBN, LRP2
4cholesterol metabolic processGO:00082039.7CUBN, LCAT
5cellular amino acid metabolic processGO:00065209.7CTNS, GSS

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

idNameGO IDScoreTop Affiliating Genes
1ion channel activityGO:00052169.4P2RX5, TRPV1

Sources for Cystinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet