MCID: KNZ001
MIFTS: 37

Kanzaki Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Kanzaki Disease

About this section

Aliases & Descriptions for Kanzaki Disease:

Name: Kanzaki Disease 50 46 23 52 68 25 12
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 46 52
Schindler Disease Type 2 46 52
Naga Deficiency Type 2 46 52
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset 46
 
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency 52
Schindler Disease, Type Ii 66
Schindler Disease Type Ii 68
Naga Deficiency Type Ii 68
Kanzd 68

Characteristics:

Orphanet epidemiological data:

52
kanzaki disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

62
kanzaki disease:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 609242
Orphanet52 ORPHA79280
ICD10 via Orphanet29 E77.1
MedGen35 C1836522

Summaries for Kanzaki Disease

About this section
OMIM:50 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It... (609242) more...

MalaCards based summary: Kanzaki Disease, also known as alpha-n-acetylgalactosaminidase deficiency type 2, is related to schindler disease and schindler disease, type i, and has symptoms including hyperkeratosis, cognitive impairment and telangiectasia of the skin. An important gene associated with Kanzaki Disease is NAGA (Alpha-N-Acetylgalactosaminidase). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:68 Kanzaki disease: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.

Related Diseases for Kanzaki Disease

About this section

Diseases related to Kanzaki Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1schindler disease11.6
2schindler disease, type i9.9
3angiokeratoma9.9
4combined d-2- and l-2-hydroxyglutaric aciduria9.5ACE, NAGA

Symptoms for Kanzaki Disease

About this section

Symptoms by clinical synopsis from OMIM:

609242

Clinical features from OMIM:

609242

Symptoms:

 52 (show all 18)
  • lip telangiectasia
  • coarse facial features
  • tinnitus
  • hearing impairment
  • hyperkeratosis
  • lymphedema
  • angiokeratoma corporis diffusum
  • intellectual disability, mild
  • subcutaneous nodule
  • cardiomegaly
  • vertigo
  • depressed nasal bridge
  • telangiectasia of the oral mucosa
  • opacification of the corneal stroma
  • peripheral neuropathy
  • thick vermilion border
  • teleangiectasia of the skin
  • papule

HPO human phenotypes related to Kanzaki Disease:

(show all 34)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 cognitive impairment hallmark (90%) HP:0100543
3 telangiectasia of the skin hallmark (90%) HP:0100585
4 thick lower lip vermilion typical (50%) HP:0000179
5 coarse facial features typical (50%) HP:0000280
6 tinnitus typical (50%) HP:0000360
7 hearing impairment typical (50%) HP:0000365
8 lymphedema typical (50%) HP:0001004
9 cardiomegaly typical (50%) HP:0001640
10 depressed nasal bridge typical (50%) HP:0005280
11 opacification of the corneal stroma typical (50%) HP:0007759
12 thick lower lip vermilion HP:0000179
13 lip telangiectasia HP:0000214
14 coarse facial features HP:0000280
15 sensorineural hearing impairment HP:0000407
16 abnormality of the eye HP:0000478
17 dry skin HP:0000958
18 hyperkeratosis HP:0000962
19 lymphedema HP:0001004
20 angiokeratoma corporis diffusum HP:0001071
21 intellectual disability, mild HP:0001256
22 cerebral atrophy HP:0002059
23 vertigo HP:0002321
24 distal muscle weakness HP:0002460
25 distal sensory impairment HP:0002936
26 aminoaciduria HP:0003355
27 distal sensory impairment of all modalities HP:0003409
28 increased urinary o-linked sialopeptides HP:0003461
29 peripheral axonal neuropathy HP:0003477
30 depressed nasal bridge HP:0005280
31 white mater abnormalities in the posterior periventricular region HP:0006812
32 telangiectasia of the oral mucosa HP:0007428
33 axonal degeneration HP:0040078
34 cognitive impairment HP:0100543

UMLS symptoms related to Kanzaki Disease:


vertigo, dry skin

Drugs & Therapeutics for Kanzaki Disease

About this section

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DonepezilPhase 4275120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
2
AripiprazolePhase 3345129722-12-960795
Synonyms:
129722-12-9
24-29-3
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butoxy)-3,4-dihydro-2(1H)-quinolinone
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butoxy)-3,4-dihydrocarbostyril
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butyloxy)-3,4-dihydro-2(1H)-quinolinone
7-[4-[4-(2,3-Dichlorophenyl)-1-piperazinyl]butoxy]-3,4-dihydrocarbostyril
7-[4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy]-3,4-dihydro-1H-quinolin-2-one
7-{4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy}-3,4-dihydroquinolin-2(1H)-one
AC-1554
AC1L1TXZ
AC1Q3T38
ALKS-9070
Abilify
Abilify (TN)
Abilify Discmelt
Abilitat
Aripiprazol
Aripiprazole
Aripiprazole (JAN/USAN/INN)
Aripiprazole [USAN]
Aripiprazolum
Aripirazole
Arpizol
Asprito|
BMS-337039
Bio-0004
Bristol-Myers Squibb brand of aripiprazole
C094645
C12564
C23H27Cl2N3O2
CHEBI:31236
CHEMBL1112
CID60795
CPD000466383
 
D01164
DB01238
Discmelt
FT-0082572
HMS2051I18
HMS2089M20
HMS2093F22
HSDB 7320
KS-1030
L001339
LS-142666
MLS000759517
MLS001165779
MLS001195621
MLS001424078
MolPort-002-885-808
MolPort-003-844-657
NCGC00159510-02
NCGC00159510-03
OPC 31
OPC-14597
OPC-31
Opc 14597
Otsuka brand of aripiprazole
Pripiprazole
S06-0010
SAM001246750
SMR000466383
STK625160
TL8000707
TL80090184
UNII-82VFR53I78
aripiprazol
aripiprazole
aripiprazolum
||OPC 14597
3
Lurasidone hydrochloridePhase 357367514-87-2213046
Synonyms:
367514-88-3
441351-20-8
D04820
Lurasidone HCl
Lurasidone hydrochloride
 
Lurasidone hydrochloride (USAN)
MK-3756
N-(2-(4-(1,2-benzisothiazol-3-yl)-1-piperazinylmethyl)-1-cyclohexylmethyl)-2,3-bicyclo(2.2.1)heptanedicarboximide
SM 13496
SM-13496
SMP-13496
4
OlanzapinePhase 3384132539-06-14585
Synonyms:
132539-06-1
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno(2,3-b)(1,5)benzodiazepine
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10 H -thieno[2,3- b ] [1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[3,2-c][1,5]benzodiazepine
AC-665
AC1L1IHS
AKOS000282888
ALKS-7921
BIDD:GT0332
BIDD:PXR0138
Bio-0169
C07322
C076029
C17H20N4S
CHEBI:7735
CHEMBL715
CID4585
CPD000466345
D00454
DB00334
Eli Lilly brand of olanzapine
HMS2051H05
HMS2089M04
HMS2093I04
I06-0784
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H3
Jsp001969
KS-1090
L000455
L005958
LS-152313
LY 170053
LY-170052
 
LY-170053
Lanzac
Lilly brand of olanzapine
MLS000759457
MLS001165781
MLS001195646
MLS001424057
Midax
MolPort-002-885-845
MolPort-003-666-569
MolPort-005-977-341
NCGC00096077-01
NCGC00096077-03
NCGC00096077-04
Olansek
Olanzapin
Olanzapina
Olanzapine
Olanzapine (JAN/USAN/INN)
Olanzapine (OLA)
Olanzapine [USAN:INN]
Olanzapinum
S2493_Selleck
SAM001246652
SMR000466345
SPECTRUM1505024
STK634338
Symbyax
TL8000772
UNII-N7U69T4SZR
Zalasta
Zydis
Zyprexa
Zyprexa (TN)
Zyprexa Intramuscular
Zyprexa Velotab
Zyprexa Zydis
olanzapina
olanzapine
olanzapinum
5
MethotrexatePhase 3, Phase 214961959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
6Lithium carbonatePhase 3222554-13-2
7
RivastigminePhase 382123441-03-277991
Synonyms:
(S)-3-(1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
123441-03-2
3-((1S)-1-(Dimethylamino)ethyl)phenyl N-ethyl-N-methylcarbamate
3-((1S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
3-[(1S)-1-(dimethylamino)ethyl]phenyl ethyl(methyl)carbamate
AB1004572
AC1L2U92
BIDD:GT0316
C11766
CHEMBL636
CID77991
Carbamic acid, N-ethyl-N-methyl-, 3-[(1S)-1-(dimethylamino)ethyl]phenyl ester
Carbamic acid, ethylmethyl-, 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
D03822
DB00989
ENA 713 free base
 
Ena 713 Free Base
Ethylmethylcarbamic acid 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
Exelon
Exelon Patch
HMS2089H18
I06-2037
LS-172571
MolPort-003-666-662
NCGC00167531-01
Rivastigmine (JAN/USAN/INN)
Rivastigmine Hydrogen Tartrate
Rivastigmine [USAN:INN]
Rivastigmine hydrogen tartrate
SDZ 212-713
UNII-PKI06M3IW0
[3-[(1S)-1-(dimethylamino)ethyl]phenyl] N-ethyl-N-methylcarbamate
m-((S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
rivastigmine
8
AbataceptPhase 3, Phase 2188332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
9
DopaminePhase 3367851-61-6, 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
10
RisperidonePhase 3482106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
 
NCGC00015883-01
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
11
SerotoninPhase 3351050-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
12
ValdecoxibPhase 230181695-72-7119607
Synonyms:
181695-72-7
2aw1
4-(5-Methyl-3-phenyl-4-isoxazolyl)benzenesulfonamide
4-(5-methyl-3-phenyl-1,2-oxazol-4-yl)benzenesulfonamide
4-(5-methyl-3-phenyl-4-isoxazolyl) benzenesulfonamide
4-(5-methyl-3-phenyl-isoxazol-4-yl)benzenesulfonamide
4-(5-methyl-3-phenylisoxazol-4-yl)benzenesulfonamide
4-(Methyl-3-phenyl-isoxazol-4-yl)-benzenesulfonamide
AC-120
AC1L3P42
AKOS000280920
BRD-K12994359-001-02-8
BSPBio_002721
Benzenesulfonamide, 4-(5-methyl-3-phenyl-4-isoxazolyl)- (9CI)
Bextra
C16H14N2O3S
C406224
CHEBI:41662
CHEMBL865
CID119607
COX
CPD000466327
D02709
DB00580
DB07576
HMS1922J21
HMS2051P07
HSDB 7302
InChI=1/C16H14N2O3S/c1-11-15(12-7-9-14(10-8-12)22(17,19)20)16(18-21-11)13-5-3-2-4-6-13/h2-10H,1H3,(H2,17,19,20
KBio2_002227
KBio2_004795
KBio2_007363
KBio3_001941
 
KBioGR_001617
KBioSS_002227
Kudeq
LS-173713
MLS000759433
MLS001165699
MLS001195631
MLS001424105
MolPort-000-883-874
NCGC00095129-01
NCGC00095129-02
NCGC00095129-03
ND-0214
Pfizer brand of valdecoxib
SAM001246603
SC 65872
SC-65872
SMR000466327
SPBio_000435
SPECTRUM1504302
Spectrum2_000508
Spectrum3_001001
Spectrum4_001129
Spectrum5_001476
Spectrum_001747
UNII-2919279Q3W
UNM-0000305814
Valdecoxib
Valdecoxib (USAN/INN)
Valdecoxib [USAN]
Valdyn
Valecoxib
YM-974
ZINC00006694
p-(5-Methyl-3-phenyl-4-isoxazolyl)benzenesulfonamide
13FolateNutraceuticalPhase 24143
14
Folic AcidNutraceuticalPhase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
15
Telmisartan260144701-48-465999
Synonyms:
144701-48-4
2-[4-[[4-methyl-6-(1-methylbenzimidazol-2-yl)-2-propylbenzimidazol-1-yl]methyl]phenyl]benzoic acid
4'-((1,4'-Dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((1,4'-dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((4-Methyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimidazolyl)methyl)-2-biphenylcarboxylic acid
4'-((4-mehtyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimmidazolyl)methyl)-2-biphenylcarboxylic acid
4'-[(1,4'-Dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,4'-dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-Dimethyl-2'-propyl-1H,3'h-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl][1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
AC-2013
AC1L24EB
AC1Q5U7O
Abbott brand of telmisartan
BAY-68-9291
BAY68-9291
BIBR 277
BIBR 277SE
BIBR-277
BIBR-277-SE
BIBR-277SE
BIDD:GT0365
BRD-K73999723-001-02-2
BSPBio_002738
Bay 68-9291
Bio-0103
Boehringer Ingelheim brand of telmisartan
C07710
C084178
C33H30N4O2
CHEBI:9434
CHEMBL1017
CID65999
CPD000466326
D00627
DB00966
Glaxo Wellcome brand of telmisartan
GlaxoSmithKline brand of telmisartan
 
HMS1922P07
HMS2051P16
HMS2090P17
HMS2093M22
HSDB 7590
I06-0281
KBio3_001958
KBioGR_001842
Kinzal
Kinzalmono
L001035
LS-44263
MLS000759432
MLS001076687
Micardis
Micardis (TN)
Micardis HCT
Micardis, Targit, Temax, BIBR277, Telmisartan
MolPort-003-666-621
NCGC00095150-01
NCGC00095150-02
NCGC00095150-03
Pritor
S1738_Selleck
SAM001246602
SMR000466326
SPBio_002131
SPECTRUM1505261
STK624049
Spectrum2_001976
Spectrum3_001089
Spectrum4_001261
Spectrum5_001053
TL8000991
Telmisartan
Telmisartan (JAN/USAN/INN)
Telmisartan [USAN:INN]
UNII-U5SYW473RQ
YM-086
telmisartan
16
Amlodipine46488150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (±)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
17
Rabeprazole147117976-89-35029
Synonyms:
117976-89-3
2-(((4-(3-Methoxypropoxy)-3-methyl-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-((4-(3-methoxypropoxy)-3-methylpyridin-2-yl)methylsulfinyl)-1H-benzimidazole
2-({[4-(3-methoxypropoxy)-3-methylpyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[[4-(3-methoxypropoxy)-3-methylpyridin-2-yl]methylsulfinyl]-1H-benzimidazole
AC1L1JGC
AcipHex
Aciphex
BIDD:GT0019
C063129
C07864
C18H21N3O3S
CHEBI:8768
CHEMBL1219
CID5029
CL23619
CPD000469174
Clofezone
D08463
DB01129
Eraloc
Eraloc (TN)
 
HMS2052P03
HSDB 7321
Habeprazole
I06-0755
Irsogladine Maleate
LS-172365
LY307640
MLS001401446
MolPort-005-935-061
Pariet
Pariets
Rabeprazole
Rabeprazole (INN)
Rabeprazole [BAN:INN]
Rabeprazole [INN:BAN]
Rabeprazole sodium
Rebeprazole sodium
SAM001246619
SMR000469174
Sodium rabeprazole
UNII-32828355LL
dexrabeprazole
rabeprazole
rabeprazole sodium
18
Proton pump inhibitors1057
Synonyms:
 
PPIs

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Post-marketing Surveillance of Long-term Administration of Donepezil Hydrochloride -Investigation of the Clinical Condition and Safety in Patients With Alzheimer's Disease-Active, not recruitingNCT01129596Phase 4
2Randomized, Double-blind Study to Evaluate the Tolerability of 2 Different Titration Methods of Rivastigmine Patch in AD Patients (MMSE 10-20)CompletedNCT01614886Phase 3
3A Study to Evaluate the Efficacy and Safety of Risperidone (R064766) in Children and Adolescents With Irritability Associated With Autistic DisorderCompletedNCT01624675Phase 3
4A Phase III Study of Abatacept in Japanese Subjects With Rheumatoid ArthritisCompletedNCT00484289Phase 3
5Efficacy, Safety, and Tolerability of an Intramuscular Formulation of Aripiprazole (OPC-14597) as Maintenance Treatment in Bipolar I PatientsCompletedNCT01567527Phase 3
6Bipolar Maintenance Study of Lurasidone Adjunctive to Lithium or DivalproexCompletedNCT01358357Phase 3
7Efficacy, Pharmacokinetics, Safety, and Immunogenicity Study of Abatacept Administered Subcutaneously to Treat Rheumatoid Arthritis in Japanese PatientsCompletedNCT01001832Phase 2, Phase 3
8A Study of RO4917838 (Bitopertin) in Patients With Sub-optimally Controlled Symptoms of Schizophrenia (WN25305)CompletedNCT01235559Phase 3
9Lurasidone - A 24-week Extension Study of Patients With Bipolar I DepressionCompletedNCT00868959Phase 3
10An Efficacy and Safety Study of Paliperidone Palmitate in Participants With SchizophreniaCompletedNCT01299389Phase 3
11Lurasidone HCI - A 6-week Phase 3 Study of Patients With Bipolar I DepressionCompletedNCT01284517Phase 3
12Study of Paliperidone Palmitate 3 Month and 1 Month Formulations for the Treatment of Patients With SchizophreniaCompletedNCT01515423Phase 3
13A Study to Evaluate Effectiveness and Safety of ER OROS Paliperidone in Patients With SchizophreniaCompletedNCT00396565Phase 3
14A Study of RO4917838 (Bitopertin) in Patients With Persistent, Predominant Negative Symptoms of Schizophrenia (WN25308)CompletedNCT01192880Phase 3
15A Study of LY3314814 in Participants With Mild Alzheimer's Disease DementiaRecruitingNCT02783573Phase 3
16A Study to Evaluate the Safety and Efficacy of Intranasal Esketamine in Treatment-resistant DepressionCompletedNCT01998958Phase 2
17A Study to Investigate the Efficacy, Safety and Tolerability of Four Different Doses of BI 409306 Compared to Placebo Given for 12 Weeks in Patients With Schizophrenia on Stable Antipsychotic Treatment.CompletedNCT02281773Phase 2
18A Study of Abatacept in Japanese Patients With Active Rheumatoid Arthritis While Receiving MethotrexateCompletedNCT00345748Phase 2
19A Dose-Ranging Study Of Valdecoxib 5 Mg, 10 Mg, And 20 Mg Once Daily Versus Placebo In Patients With Osteoarthritis Of The Knee (Japan)CompletedNCT00650624Phase 2
20Single and Multiple Ascending Dose Study of BIIB037 in Japanese Participants With Alzheimer's DiseaseActive, not recruitingNCT02434718Phase 1
21Quality of Life in New Treatable Therapy as Rabeprazole Option for Refractory Reflux EsophagitisCompletedNCT01321567
22Safety and Efficacy of Daily Use of Micamlo® Combination Tablets AP in Patients With HypertensionCompletedNCT01353274

Search NIH Clinical Center for Kanzaki Disease

Genetic Tests for Kanzaki Disease

About this section

Genetic tests related to Kanzaki Disease:

id Genetic test Affiliating Genes
1 Kanzaki Disease25 23 NAGA

Anatomical Context for Kanzaki Disease

About this section

MalaCards organs/tissues related to Kanzaki Disease:

34
Skin, Eye

Animal Models for Kanzaki Disease or affiliated genes

About this section

Publications for Kanzaki Disease

About this section

Articles related to Kanzaki Disease:

idTitleAuthorsYear
1
The 1.9 A structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases. (19683538)
2009
2
Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. (15619430)
2005
3
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). (14685826)
2004
4
Neurologic manifestations of Kanzaki disease. (15136691)
2004
5
Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]]. (9645085)
1998
6
Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease. (7897017)
1995
7
Schindler disease/Kanzaki disease]. (8577046)
1995
8
Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine. (2104850)
1990

Variations for Kanzaki Disease

About this section

UniProtKB/Swiss-Prot genetic disease variations for Kanzaki Disease:

68
id Symbol AA change Variation ID SNP ID
1NAGAp.Arg329TrpVAR_000498rs121434530
2NAGAp.Arg329GlnVAR_022525rs121434533

Clinvar genetic disease variations for Kanzaki Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NAGANM_000262.2(NAGA): c.985C> T (p.Arg329Trp)single nucleotide variantPathogenicrs121434530GRCh37Chr 22, 42457044: 42457044
2NAGANM_000262.2(NAGA): c.577G> T (p.Glu193Ter)single nucleotide variantPathogenicrs121434531GRCh37Chr 22, 42462734: 42462734
3NAGANM_000262.2(NAGA): c.986G> A (p.Arg329Gln)single nucleotide variantPathogenicrs121434533GRCh37Chr 22, 42457043: 42457043

Expression for genes affiliated with Kanzaki Disease

About this section
Search GEO for disease gene expression data for Kanzaki Disease.

Pathways for genes affiliated with Kanzaki Disease

About this section

GO Terms for genes affiliated with Kanzaki Disease

About this section

Cellular components related to Kanzaki Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.1ACE, NAGA

Sources for Kanzaki Disease

About this section
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