KANZD
MCID: KNZ001
MIFTS: 38

Kanzaki Disease (KANZD) malady

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

Aliases & Classifications for Kanzaki Disease

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Aliases & Descriptions for Kanzaki Disease:

Name: Kanzaki Disease 52 48 24 54 70 27 12
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 48 54
Schindler Disease Type 2 48 54
Naga Deficiency Type 2 48 54
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset 48
 
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency 54
Schindler Disease, Type Ii 68
Schindler Disease Type Ii 70
Naga Deficiency Type Ii 70
Kanzd 70

Characteristics:

Orphanet epidemiological data:

54
kanzaki disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

64
kanzaki disease:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 609242
Orphanet54 ORPHA79280
ICD10 via Orphanet31 E77.1
MedGen37 C1836522

Summaries for Kanzaki Disease

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OMIM:52 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 vertigo, vertigo and dry skin. An important gene associated with Kanzaki Disease is NAGA (Alpha-N-Acetylgalactosaminidase). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:70 Kanzaki disease: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.

Related Diseases for Kanzaki Disease

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

idRelated DiseaseScoreTop Affiliating Genes
1schindler disease11.7
2schindler disease, type i10.8
3combined d-2- and l-2-hydroxyglutaric aciduria9.8ACE, NAGA
4angiokeratoma9.8

Symptoms & Phenotypes for Kanzaki Disease

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Symptoms by clinical synopsis from OMIM:

609242

Clinical features from OMIM:

609242

Human phenotypes related to Kanzaki Disease:

 54 64 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lip telangiectasia64 54 Very frequent (99-80%) HP:0000214
2 coarse facial features64 54 Frequent (79-30%) HP:0000280
3 tinnitus64 54 Frequent (79-30%) HP:0000360
4 hearing impairment64 54 Frequent (79-30%) HP:0000365
5 hyperkeratosis64 54 Very frequent (99-80%) HP:0000962
6 lymphedema64 54 Frequent (79-30%) HP:0001004
7 angiokeratoma corporis diffusum64 54 Very frequent (99-80%) HP:0001071
8 intellectual disability, mild64 54 Very frequent (99-80%) HP:0001256
9 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
10 cardiomegaly64 54 Frequent (79-30%) HP:0001640
11 vertigo64 54 Very frequent (99-80%) HP:0002321
12 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
13 telangiectasia of the oral mucosa64 54 Very frequent (99-80%) HP:0007428
14 opacification of the corneal stroma64 54 Frequent (79-30%) HP:0007759
15 peripheral neuropathy64 54 Frequent (79-30%) HP:0009830
16 thick vermilion border64 54 Frequent (79-30%) HP:0012471
17 teleangiectasia of the skin54 Very frequent (99-80%)
18 papule64 54 Very frequent (99-80%) HP:0200034
19 thick lower lip vermilion64 HP:0000179
20 sensorineural hearing impairment64 HP:0000407
21 abnormality of the eye64 HP:0000478
22 dry skin64 HP:0000958
23 cerebral atrophy64 HP:0002059
24 distal muscle weakness64 HP:0002460
25 distal sensory impairment64 HP:0002936
26 aminoaciduria64 HP:0003355
27 distal sensory impairment of all modalities64 HP:0003409
28 increased urinary o-linked sialopeptides64 HP:0003461
29 peripheral axonal neuropathy64 HP:0003477
30 white mater abnormalities in the posterior periventricular region64 HP:0006812
31 axonal degeneration64 HP:0040078
32 cognitive impairment64 HP:0100543
33 telangiectasia of the skin64 HP:0100585

UMLS symptoms related to Kanzaki Disease:


vertigo, dry skin

Drugs & Therapeutics for Kanzaki Disease

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

(show top 50)    (show all 66)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Rivastigmineapproved, investigationalPhase 383123441-03-277991
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
2
DopamineapprovedPhase 3383651-61-6, 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
3
MethotrexateapprovedPhase 3, Phase 215511959-05-2, 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
4
AbataceptapprovedPhase 3, Phase 2197332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
5
Olanzapineapproved, investigationalPhase 3399132539-06-14585
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
6
Aripiprazoleapproved, investigationalPhase 3358129722-12-960795
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
7
Risperidoneapproved, investigationalPhase 3492106266-06-25073
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
8Pharmaceutical SolutionsPhase 2, Phase 38192
9Paliperidone PalmitatePhase 3165
10Antirheumatic AgentsPhase 3, Phase 210956
11Serotonin 5-HT2 Receptor AntagonistsPhase 3225
12Fat Emulsions, IntravenousPhase 397
13Immunosuppressive AgentsPhase 3, Phase 213086
14Soybean oil, phospholipid emulsionPhase 376
15Neurotransmitter Uptake InhibitorsPhase 33521
16Peripheral Nervous System AgentsPhase 3, Phase 223689
17Serotonin Uptake InhibitorsPhase 31587
18Gastrointestinal AgentsPhase 38402
19Autonomic AgentsPhase 310150
20
Lurasidone hydrochloridePhase 358367514-87-2213046
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
21AntiemeticsPhase 34022
22Cholinergic AgentsPhase 33992
23Parenteral Nutrition SolutionsPhase 3160
24Antipsychotic AgentsPhase 3, Phase 22401
25Central Nervous System DepressantsPhase 3, Phase 213403
26Dopamine AntagonistsPhase 31093
27Protective AgentsPhase 37443
28Neurotransmitter AgentsPhase 318340
29Lithium carbonatePhase 3240554-13-2
30Cholinesterase InhibitorsPhase 3592
31Neuroprotective AgentsPhase 31716
32Psychotropic DrugsPhase 3, Phase 26430
33Dopamine AgentsPhase 33836
34Adrenergic AgentsPhase 35352
35Adrenergic AntagonistsPhase 31573
36Dopamine D2 Receptor AntagonistsPhase 3333
37Tranquilizing AgentsPhase 3, Phase 24265
38Adrenergic alpha-AntagonistsPhase 3739
39
SerotoninPhase 3362750-67-95202
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
40Serotonin AgentsPhase 33156
41Serotonin AntagonistsPhase 31409
42Soy BeanNutraceuticalPhase 3554
43
leucovorinapproved, NutraceuticalPhase 2323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
44
Folic Acidapproved, nutraceutical, vet_approvedPhase 2439259-30-36037
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
45Dermatologic AgentsPhase 25806
46Folic Acid AntagonistsPhase 22257
47Nucleic Acid Synthesis InhibitorsPhase 24962
48Antimetabolites, AntineoplasticPhase 27361
49Vitamin B ComplexPhase 24337
50Anti-Inflammatory AgentsPhase 210729

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Randomized, Double-blind Study to Evaluate the Tolerability of 2 Different Titration Methods of Rivastigmine Patch in AD Patients (MMSE 10-20)CompletedNCT01614886Phase 3
2A Study to Evaluate the Efficacy and Safety of Risperidone (R064766) in Children and Adolescents With Irritability Associated With Autistic DisorderCompletedNCT01624675Phase 3
3Bipolar Maintenance Study of Lurasidone Adjunctive to Lithium or DivalproexCompletedNCT01358357Phase 3
4Efficacy, Safety, and Tolerability of an Intramuscular Formulation of Aripiprazole (OPC-14597) as Maintenance Treatment in Bipolar I PatientsCompletedNCT01567527Phase 3
5A Phase III Study of Abatacept in Japanese Subjects With Rheumatoid ArthritisCompletedNCT00484289Phase 3
6A Study of RO4917838 (Bitopertin) in Patients With Sub-optimally Controlled Symptoms of Schizophrenia (WN25305)CompletedNCT01235559Phase 3
7An Efficacy and Safety Study of Paliperidone Palmitate in Participants With SchizophreniaCompletedNCT01299389Phase 3
8Lurasidone - A 24-week Extension Study of Patients With Bipolar I DepressionCompletedNCT00868959Phase 3
9Efficacy, Pharmacokinetics, Safety, and Immunogenicity Study of Abatacept Administered Subcutaneously to Treat Rheumatoid Arthritis in Japanese PatientsCompletedNCT01001832Phase 2, Phase 3
10Lurasidone HCI - A 6-week Phase 3 Study of Patients With Bipolar I DepressionCompletedNCT01284517Phase 3
11Study of Paliperidone Palmitate 3 Month and 1 Month Formulations for the Treatment of Patients With SchizophreniaCompletedNCT01515423Phase 3
12A Study to Evaluate Effectiveness and Safety of ER OROS Paliperidone in Patients With SchizophreniaCompletedNCT00396565Phase 3
13A Study to Evaluate Efficacy and Safety of Bitopertin in Participants With Persistent, Predominant Negative Symptoms of SchizophreniaCompletedNCT01192880Phase 3
14A Study of Lanabecestat (LY3314814) in Participants With Mild Alzheimer's Disease DementiaRecruitingNCT02783573Phase 3
15A Study to Evaluate the Safety and Efficacy of Intranasal Esketamine in Treatment-resistant DepressionCompletedNCT01998958Phase 2
16A 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
17A 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
18A Study of Abatacept in Japanese Patients With Active Rheumatoid Arthritis While Receiving MethotrexateCompletedNCT00345748Phase 2
19A Study to Evaluate the Efficacy, Safety and Tolerability of Fixed Doses of Intranasal Esketamine in Japanese Participants With Treatment Resistant DepressionRecruitingNCT02918318Phase 2
20Single and Multiple Ascending Dose Study of Aducanumab (BIIB037) in Japanese Participants With Alzheimer's DiseaseCompletedNCT02434718Phase 1
21Post-marketing Surveillance of Long-term Administration of Donepezil Hydrochloride -Investigation of the Clinical Condition and Safety in Patients With Alzheimer's Disease-CompletedNCT01129596
22Safety and Efficacy of Daily Use of Micamlo® Combination Tablets AP in Patients With HypertensionCompletedNCT01353274
23Quality of Life in New Treatable Therapy as Rabeprazole Option for Refractory Reflux EsophagitisCompletedNCT01321567

Search NIH Clinical Center for Kanzaki Disease

Genetic Tests for Kanzaki Disease

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Genetic tests related to Kanzaki Disease:

id Genetic test Affiliating Genes
1 Kanzaki Disease27 24 NAGA

Anatomical Context for Kanzaki Disease

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MalaCards organs/tissues related to Kanzaki Disease:

36
Skin, Eye

Publications for Kanzaki Disease

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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

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

70
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)SNVPathogenicrs121434530GRCh37Chr 22, 42457044: 42457044
2NAGANM_ 000262.2(NAGA): c.577G> T (p.Glu193Ter)SNVPathogenicrs121434531GRCh37Chr 22, 42462734: 42462734
3NAGANM_ 000262.2(NAGA): c.986G> A (p.Arg329Gln)SNVPathogenicrs121434533GRCh37Chr 22, 42457043: 42457043

Expression for genes affiliated with Kanzaki Disease

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Search GEO for disease gene expression data for Kanzaki Disease.

Pathways for genes affiliated with Kanzaki Disease

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GO Terms for genes affiliated with Kanzaki Disease

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.1ACE, NAGA

Molecular functions related to Kanzaki Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activityGO:00167879.1ACE, NAGA

Sources for Kanzaki Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet