MCID: TYS001
MIFTS: 72

Tay-Sachs Disease malady

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

Aliases & Classifications for Tay-Sachs Disease

About this section

Aliases & Descriptions for Tay-Sachs Disease:

Name: Tay-Sachs Disease 50 33 11 69 46 23 24 47 13 52 68 48 36 37 66
Hexosaminidase a Deficiency 11 22 46 23 24 52 68
Tsd 46 23 24 68
Hexosaminidase Alpha-Subunit Deficiency 46 24 66
Gm2 Gangliosidosis 22 23 48
Hexa Deficiency 46 24 68
Gm2-Gangliosidosis, Several Forms 50 12
B Variant Gm2 Gangliosidosis 46 24
Sphingolipidosis, Tay-Sachs 46 24
Gm2 Gangliosidosis, Type 1 46 24
Disease, Tay-Sachs 11 25
Hex a Deficiency 22 23
 
Tay-Sachs Disease Pseudo-Ab Variant 68
Type 1 Hexosaminidase a-Deficiency 23
Acute Infantile Gm2 Gangliosidosis 23
Gm2 Gangliosidosis, B, B1 Variant 52
Tay-Sachs Disease Variant B1 68
Gm2-Gangliosidosis B Variant 68
Gangliosidosis Gm2 , Type 1 46
Type I Gm2 Gangliosidosis 23
Gm2-Gangliosidosis 1 68
Gangliosidoses, Gm2 66
Gm2g1 68

Characteristics:

Orphanet epidemiological data:

52
tay-sachs disease:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/1000000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Worldwide),1-9/1000000 (Netherlands),1-9/1000000 (Canada),1-9/1000000 (United Arab Emirates),1-9/1000000 (Turkey),1-9/1000000 (Sweden); Age of onset: All ages; Age of death: any age

HPO:

62
tay-sachs disease:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 272800
Disease Ontology11 DOID:3320
ICD1028 E75.02, E75.0
MeSH37 D013661
NCIt43 C85184
SNOMED-CT60 111385000
Orphanet52 ORPHA845
ICD10 via Orphanet29 E75.0
MESH via Orphanet38 D013661
UMLS via Orphanet67 C0039373, C1848922

Summaries for Tay-Sachs Disease

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MedlinePlus:36 Tay-sachs disease is a rare, inherited disease. it is a type of lipid metabolism disorder. it causes too much of a fatty substance to build up in the brain. this buildup destroys nerve cells, causing mental and physical problems. . infants with tay-sachs disease appear to develop normally for the first few months of life. then mental and physical abilities decline. the child becomes blind, deaf, and unable to swallow. muscles begin to waste away and paralysis sets in. even with the best of care, children with tay-sachs disease usually die by age 4. the cause is a gene mutation which is most common in eastern european ashkenazi jews. to get the disease, both parents must have the gene. if they do, there is a 25% chance of the child having the disease. a blood test and prenatal tests can check for the gene or the disease. there is no cure. medicines and good nutrition can help some symptoms. some children need feeding tubes. nih: national institute of neurological disorders and stroke

MalaCards based summary: Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to tay-sachs disease, b1 variant and tay-sachs disease, b variant, infantile form, and has symptoms including macrocephaly, hearing impairment and abnormality of the macula. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Defective B4GALT7 causes EDS, progeroid type. Affiliated tissues include brain, testes and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

NIH Rare Diseases:46 Tay-sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. tay-sachs is caused by the absence of a vital enzyme called hexosaminidase-a (hex-a). without hex-a, a fatty substance, or lipid, called gm2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. this ongoing accumulation causes progressive damage to the cells. tay-sachs disease is inherited in an autosomal recessive pattern.  last updated: 1/14/2016

UniProtKB/Swiss-Prot:68 GM2-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).

NINDS:47 Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.

Genetics Home Reference:24 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

OMIM:50 Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile... (272800) more...

Wikipedia:69 Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare... more...

GeneReviews summary for NBK1218

Related Diseases for Tay-Sachs Disease

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Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease, B Variant, Juvenile Form Tay-Sachs Disease, B Variant, Infantile Form
Tay-Sachs Disease, B1 Variant Tay-Sachs Disease, B Variant, Adult Form

Diseases related to Tay-Sachs Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1tay-sachs disease, b1 variant34.2ARSA, PSAP
2tay-sachs disease, b variant, infantile form34.0ARSA, PSAP
3gm2 gangliosidosis, 0 variant12.4
4tay-sachs disease, b variant, juvenile form12.3
5tay-sachs disease, b variant, adult form12.3
6juvenile hexosaminidase a deficiency12.2
7chronic and adult-onset hexosaminidase a deficiency12.1
8gm2-gangliosidosis, ab variant12.1
9gangliosidosis10.6
10cystic fibrosis10.5
11cerebritis10.4
12neuronitis10.4
13metachromatic leukodystrophy, late infantile form10.4ARSA, PSAP
14metachromatic leukodystrophy10.4
15thalassemia10.4
16leukodystrophy10.4
17petrositis10.3GLB1, HEXA
18mental retardation, autosomal recessive 4310.3GM2A, PSAP
19gm1-gangliosidosis, type i10.3
20sandhoff disease, infantile, juvenile, and adult forms10.3
21sphingolipidosis10.3
22lipid metabolism disorder10.3
23sickle cell disease10.3
24schizophrenia10.1
25friedreich ataxia10.1
26fructose intolerance10.1
27phenylketonuria10.1
28pick disease10.1
29prader-willi syndrome10.1
30fabry disease10.1
31niemann-pick disease10.1
32thrombocytopenia10.1
33autosomal recessive disease10.1
34stuttering10.1
35ptosis10.1
36cerebral lipidosis10.1
37choroiditis10.1
38retinitis10.1
39lipodystrophy10.1
40neuropathy10.1
41achalasia10.1
42encephalitis10.1
43precocious puberty10.1
44ataxia10.1
45reproductive organ cancer10.1ARSA, PSAP
46mitochondrial dna depletion syndrome 110.1ARSA, HEXA, PSAP
47mucopolysaccharidosis ih/s10.0GLB1, HEXA, HEXB
48duodenal obstruction10.0MGEA5, VIM
49graves disease 110.0ARSA, PSAP
50seizures, benign familial infantile, 110.0CTSA, HEXA

Graphical network of the top 20 diseases related to Tay-Sachs Disease:



Diseases related to tay-sachs disease

Symptoms for Tay-Sachs Disease

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Symptoms by clinical synopsis from OMIM:

272800

Clinical features from OMIM:

272800

Symptoms:

 52 (show all 23)
  • macrocephaly
  • hearing impairment
  • visual impairment
  • blindness
  • optic atrophy
  • seizures
  • ataxia
  • muscular hypotonia
  • spasticity
  • global developmental delay
  • hyperreflexia
  • splenomegaly
  • recurrent respiratory infections
  • hepatomegaly
  • eeg abnormality
  • psychomotor deterioration
  • developmental regression
  • myotonia
  • hemiplegia/hemiparesis
  • intellectual disability, progressive
  • increased muscle lipid content
  • cherry red spot of the macula
  • abnormality of movement

HPO human phenotypes related to Tay-Sachs Disease:

(show all 28)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hearing impairment hallmark (90%) HP:0000365
3 abnormality of the macula hallmark (90%) HP:0001103
4 seizures hallmark (90%) HP:0001250
5 hyperreflexia hallmark (90%) HP:0001347
6 incoordination hallmark (90%) HP:0002311
7 eeg abnormality hallmark (90%) HP:0002353
8 developmental regression hallmark (90%) HP:0002376
9 hemiplegia/hemiparesis hallmark (90%) HP:0004374
10 abnormality of movement hallmark (90%) HP:0100022
11 optic atrophy typical (50%) HP:0000648
12 muscular hypotonia typical (50%) HP:0001252
13 hypertonia typical (50%) HP:0001276
14 splenomegaly typical (50%) HP:0001744
15 recurrent respiratory infections typical (50%) HP:0002205
16 hepatomegaly typical (50%) HP:0002240
17 myotonia typical (50%) HP:0002486
18 blindness HP:0000618
19 dementia HP:0000726
20 apathy HP:0000741
21 seizures HP:0001250
22 muscular hypotonia HP:0001252
23 exaggerated startle response HP:0002267
24 psychomotor deterioration HP:0002361
25 poor head control HP:0002421
26 aspiration HP:0002835
27 gm2-ganglioside accumulation HP:0003495
28 cherry red spot of the macula HP:0010729

UMLS symptoms related to Tay-Sachs Disease:


back pain, headache, pain, sciatica, seizures, syncope, tremor, apathy, chronic pain, hyperexplexia, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Tay-Sachs Disease

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Drugs for Tay-Sachs Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
1-DeoxynojirimycinPhase 4, Phase 3, Phase 22319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
2
MiglustatPhase 4, Phase 3, Phase 22172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
3PREDNISOLONE ACETATEPhase 2, Phase 31118
4
MethylprednisolonePhase 2, Phase 3111883-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
5
PrednisolonePhase 2, Phase 3111850-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
6
CyclophosphamidePhase 2, Phase 3275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
7Alkylating AgentsPhase 2, Phase 34573
8
BusulfanPhase 2, Phase 353255-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
9
HydroxyureaPhase 2208127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
10
ClofarabinePhase 2156123318-82-1119182
Synonyms:
(2R,3R,4S,5R)-5-(6-amino-2-Chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
(2R,3R,4S,5R)-5-(6-amino-2-chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
123318-82-1
2-Chloro-9-(2-deoxy-2-fluoro-b-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
2-Cl-2'-F-araA
2-chloro-9-(2'-Deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2'-deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2-Deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
3S211048
AC-274
AC1L3OC8
AKOS005063562
Bio-0121
C1-F-Ara-A
CAFdA
CFB
CHEBI:681569
CHEMBL1750
CID119182
CL-F-Ara-a
 
Cl-F-Ara-A
Clofarabin
Clofarabina
Clofarabine
Clofarabine (USAN/INN)
Clofarabine [USAN]
Clofarabinum
Clofarex
Clolar
Clolar (TN)
Clolar, Evoltra, Clofarabine
D03546
DB00631
DB07554
Evoltra
FT-0082882
HMS2090A07
LS-126466
MolPort-005-941-711
S1218_Selleck
UNII-762RDY0Y2H
ZINC03798247
clofarabina
clofarabinum
11
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
12
BenzocainePhase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
13
MelphalanPhase 2697148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
14
leucovorinPhase 1, Phase 2104758-05-9143, 54575
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-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
15
alemtuzumabPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
16
PyrimethaminePhase 1, Phase 215158-14-04993
Synonyms:
2,4-Diamino-5-(4-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-(P-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-(p-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-chlorophenyl-6-ethylpyrimidine
46706_FLUKA
46706_RIEDEL
4753 R.P.
4753 r.p
5-(4'-Chlorophenyl)-2,4-diamino-6-ethylpyrimidine
5-(4-CHLORO-PHENYL)-6-ETHYL-PYRIMIDINE-2,4-DIAMINE
5-(4-CHLOROPHENYL)-6-ETHYL-2,4-PYRIMIDINEDIAMINE
5-(4-Chlorophenyl)-6-ethyl-2,4-diaminopyrimidine
5-(4-Chlorophenyl)-6-ethyl-2,4-pyrimidi nediamine
5-(4-Chlorophenyl)-6-ethyl-2,4-pyrimidinediamine
5-(4-chlorophenyl)-2,4-diamino-6-ethylpyrimidine
5-(4-chlorophenyl)-6-ethylpyrimidine-2,4-diamine
5-(p-chlorophenyl)-6-ethyl-2,4-diaminopyrimidine
5-[4-Chlorophenyl]-6-ethyl-2,4-pyrimidinediamine
58-14-0
AB00052084
AC-7879
AC1L1JDI
AI3-25005
AZT + Pyrimethamine combination
Aventis Brand of Pyrimethamine
BIDD:GT0149
BIDD:PXR0173
BPBio1_000147
BRD-K88429204-001-05-4
BRN 0219864
BSPBio_000133
BSPBio_003282
BW 50-63
BW 5063
C07391
C12H13ClN4
CAS-58-14-0
CCRIS 546
CD
CHEBI:8673
CHEMBL36
CID4993
CP6
CPD000058714
CRL-8131 & Pyrimethamine
CRL-8142 & Pyrimethamine
Chloridin
Chloridine
Chloridyn
D00488
D011739
DB00205
Darachlor
Daraclor
Darapram
Daraprim
Daraprim (TN)
Daraprime
Daraprin
Diaminopyritamin
Disulone
DivK1c_000652
EINECS 200-364-2
EXR-101
Erbaprelina
Ethylpyrimidine
Fansidar
Fansidar (Pyrimethamine/Sulfadoxine)
Glaxo Wellcome Brand of Pyrimethamine
GlaxoSmithKline Brand of Pyrimethamine
HMS1568G15
HMS1920N12
HMS2092E13
HMS502A14
IDI1_000652
KBio1_000652
KBio2_001386
KBio2_003954
 
KBio2_006522
KBio3_002502
KBioGR_001007
KBioSS_001386
Khloridin
L000713
LS-238
Lactoferrin B & Pyrimethamine
Lactoferrin H & Pyrimethamine
MCB-3837
MLS000028606
MLS001148621
MLS002454446
MLS002701881
Malacid
Malocid
Malocide
Maloprim
MolPort-001-783-655
NCGC00016256-01
NCGC00016256-02
NCGC00023188-03
NCGC00023188-04
NCGC00023188-05
NCGC00023188-06
NCGC00023188-07
NCI-C01683
NCI60_002604
NCIOpen2_008313
NINDS_000652
NSC 3061
NSC-3061
NSC3061
Oxaquin
Pirimecidan
Pirimetamin
Pirimetamina
Pirimetamina [INN-Spanish]
Pirimetamina [Spanish]
Prestwick0_000037
Prestwick1_000037
Prestwick2_000037
Prestwick3_000037
Prestwick_504
Primethamine
Pyremethamine
Pyrimethamin
Pyrimethamine (JAN/USP/INN)
Pyrimethamine (Pyr)
Pyrimethamine Hcl
Pyrimethamine [USAN:INN:BAN:JAN]
Pyrimethaminum
Pyrimethaminum [INN-Latin]
RP 4753
S2006_Selleck
SAM002554921
SMR000058714
SPBio_000672
SPBio_002054
SPECTRUM1500520
Spectrum2_000886
Spectrum3_001701
Spectrum4_000494
Spectrum5_001447
Spectrum_000906
TCMDC-123831
TCMDC-125860
Tindurin
Tindurine
Tinduring
UNII-Z3614QOX8W
WLN: T6N CNJ BZ DZ ER DG& F2
WR 2978
Wellcome Brand of Pyrimethamine
ZINC00057464
m alocid
nchembio.215-comp13
nchembio.87-comp22
pyrimethamine
17tannic acidNutraceuticalPhase 21794
18FolateNutraceuticalPhase 1, Phase 24143
19
Folic AcidNutraceuticalPhase 1, Phase 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
20
Mycophenolic acid91924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
21
Mycophenolate mofetil919128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Synergistic Enteral Regimen for Treatment of the GangliosidosesRecruitingNCT02030015Phase 4
2Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesCompletedNCT00672022Phase 3
3Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
4ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
5Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)CompletedNCT01102686Phase 1, Phase 2
6Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisCompletedNCT00418847Phase 2
7HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 2
8Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
9Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood CellsCompletedNCT00692926Phase 1
10UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
11Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage DiseasesActive, not recruitingNCT01003912Phase 1
12A Phase I Study of Pyrimethamine in Patients With GM2 GangliosidosisWithdrawnNCT00679744Phase 1
13Gene Therapy for Tay-Sachs DiseaseCompletedNCT01869270
14Diagnostic and Screening Study of Genetic DisordersCompletedNCT00006057
15Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092
16Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)CompletedNCT01023048
17Clinical Use of Parental Support To Detect Single Gene MutationsCompletedNCT01197872
18A Natural History of Late Onset Tay-Sachs DiseaseRecruitingNCT02851862
19A Natural History Study of the GangliosidosesRecruitingNCT00668187
20Biomarker for GM1/GM2 - GangliosidosesRecruitingNCT02298647
21Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965
22Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.Active, not recruitingNCT01999257

Search NIH Clinical Center for Tay-Sachs Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Tay-Sachs Disease cell therapies at LifeMap Discovery.

Genetic Tests for Tay-Sachs Disease

About this section

Genetic tests related to Tay-Sachs Disease:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease25 23 HEXA
2 Hexosaminidase a Deficiency23 HEXA

Anatomical Context for Tay-Sachs Disease

About this section

MalaCards organs/tissues related to Tay-Sachs Disease:

34
Brain, Testes, Spinal cord, Bone, Eye, Retina, Kidney

Animal Models for Tay-Sachs Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Tay-Sachs Disease:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.7ARSA, HEXA, HEXB, PSAP
2MP:00053918.6HEXA, HEXB, HHEX, PSAP, VIM
3MP:00053888.3CTSA, HHEX, MGEA5, PSAP, VIM
4MP:00053708.2CTSA, GLB1, HEXA, HEXB, HHEX, PSAP
5MP:00053898.1CTSA, GLB1, HEXA, HEXB, PSAP, VIM
6MP:00053678.1CTSA, GLB1, HEXA, HEXB, PSAP
7MP:00053877.5ARSA, CTSA, GLB1, HEXB, HHEX, PSAP
8MP:00053847.4CTSA, GLB1, HEXB, HHEX, MGEA5, PSAP
9MP:00053977.4ARSA, CTSA, GLB1, HEXB, HHEX, PSAP
10MP:00036317.4ARSA, GLB1, GM2A, HEXA, HEXB, HHEX
11MP:00107686.9CTSA, GLB1, HEXA, HEXB, HHEX, MGEA5
12MP:00053766.8ARSA, CTSA, GLB1, HEXA, HEXB, HHEX
13MP:00053866.8ARSA, CTSA, GLB1, GM2A, HEXA, HEXB

Publications for Tay-Sachs Disease

About this section

Articles related to Tay-Sachs Disease:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease. (26874567)
2016
2
Tay-Sachs disease: current perspectives from Australia. (25653550)
2015
3
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
4
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease. (19644708)
2009
5
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. (15961412)
2005
6
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. (16088929)
2005
7
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation. (15065574)
2004
8
A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient. (11317368)
2001
9
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. (9150157)
1997
10
Screening for Tay-Sachs disease. (8775693)
1996
11
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells. (8597952)
1996
12
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease. (7749419)
1995
13
Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction. (7890054)
1995
14
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B. (8003579)
1994
15
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. (8044648)
1993
16
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. (8326491)
1993
17
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. (1301958)
1992
18
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. (1415222)
1992
19
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. (2141777)
1990
20
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). (2144098)
1990
21
Identification of an altered splice site in Ashkenazi Tay-Sachs disease. (3362213)
1988
22
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. (2959149)
1987
23
Tay-Sachs disease: a centenary. (3314722)
1987
24
Isolation of cDNA clones coding for the alpha-subunit of human beta- hexosaminidase. Extensive homology between the alpha- and beta- subunits and studies on Tay-Sachs disease. (3013851)
1986
25
Tay-Sachs disease: Part 2. Model of a fatal, preventable, metabolic, genetic disorder. (6508567)
1984
26
Tay-Sachs disease and the persistence of lethal autosomal recessive genes in human populations. (6377528)
1984
27
Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells. (6816949)
1982
28
Demonstration of cross-reacting material in Tay-Sachs disease. (89845)
1979
29
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
30
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. (601074)
1977
31
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. (848858)
1977
32
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay. (872421)
1977
33
Tay-Sachs disease and carrier screening programs: psychosocial aspects. (601091)
1977
34
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. (601075)
1977
35
Letter: Use of demographic data in screening for Tay-Sachs disease. (932893)
1976
36
Electroretinogram and visually evoked cortical potential in Tay-Sachs disease: a report of two cases. (1018206)
1976
37
Community screening for Tay-Sachs disease. (1266700)
1976
38
Letter: Amniocentesis in tay-Sachs disease. (1172949)
1975
39
Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes. (4826945)
1974
40
A screening program for Tay-Sachs disease in Israel. (4775113)
1973
41
Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers. (4776531)
1973
42
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. (4611523)
1973
43
Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. (4336274)
1972
44
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
45
Abnormality of cerebral neutral lipids and glycolipids in a case of Tay-Sachs disease which appeared in siblings. (5313762)
1971
46
Studies of red cell stromal proteins in Tay-Sachs disease. (5666115)
1968
47
Tay Sachs disease. A case report. (5866486)
1965
48
Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum. (13980699)
1963
49
FORMATION OF THE MEMBRANOUS CYTOPLASMIC BODIES OF TAY-SACHS DISEASE. (14272253)
1963
50
Lipodystrophy of the central nervous system in a dog; a disease with similarities to Tay-Sachs disease of man. (13427403)
1956

Variations for Tay-Sachs Disease

About this section

UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:

68 (show all 44)
id Symbol AA change Variation ID SNP ID
1HEXAp.Pro25SerVAR_003202
2HEXAp.Leu39ArgVAR_003203rs121907979
3HEXAp.Leu127ArgVAR_003204rs121907975
4HEXAp.Arg166GlyVAR_003205
5HEXAp.Arg170GlnVAR_003206rs121907957
6HEXAp.Arg170TrpVAR_003207rs121907972
7HEXAp.Arg178CysVAR_003208rs121907953
8HEXAp.Arg178HisVAR_003209rs28941770
9HEXAp.Arg178LeuVAR_003210rs28941770
10HEXAp.Tyr180HisVAR_003211rs28941771
11HEXAp.Val192LeuVAR_003212
12HEXAp.Asn196SerVAR_003213rs753862880
13HEXAp.Lys197ThrVAR_003214rs121907973
14HEXAp.Val200MetVAR_003215rs1800429
15HEXAp.His204ArgVAR_003216rs121907976
16HEXAp.Ser210PheVAR_003217rs121907961
17HEXAp.Phe211SerVAR_003218rs121907974
18HEXAp.Gly250AspVAR_003221rs121907959
19HEXAp.Gly250SerVAR_003222
20HEXAp.Arg252HisVAR_003223rs762255098
21HEXAp.Asp258HisVAR_003224rs121907971
22HEXAp.Gly269SerVAR_003225rs121907954
23HEXAp.Ser279ProVAR_003226
24HEXAp.Met301ArgVAR_003227rs121907977
25HEXAp.Ile335PheVAR_003230
26HEXAp.Val391MetVAR_003232
27HEXAp.Trp420CysVAR_003234rs121907958
28HEXAp.Gly454SerVAR_003236rs121907978
29HEXAp.Gly455ArgVAR_003237
30HEXAp.Cys458TyrVAR_003238
31HEXAp.Trp474CysVAR_003239rs121907981
32HEXAp.Glu482LysVAR_003240rs121907952
33HEXAp.Leu484GlnVAR_003241
34HEXAp.Trp485ArgVAR_003242rs121907968
35HEXAp.Arg499CysVAR_003243rs121907966
36HEXAp.Arg499HisVAR_003244rs121907956
37HEXAp.Arg504CysVAR_003245rs28942071
38HEXAp.Arg504HisVAR_003246rs121907955
39HEXAp.Arg252LeuVAR_017188
40HEXAp.Asn295SerVAR_017189rs199578185
41HEXAp.Leu127PheVAR_022439
42HEXAp.Ser226PheVAR_022440rs769866128
43HEXAp.Gly269AspVAR_022441
44HEXAp.Asp314ValVAR_022442

Clinvar genetic disease variations for Tay-Sachs Disease:

5 (show all 55)
id Gene Variation Type Significance SNP ID Assembly Location
1GM2ANM_000405.4(GM2A): c.333delC (p.Cys112Valfs)deletionPathogenicrs587779405GRCh37Chr 5, 150646381: 150646381
2HEXANM_000520.5(HEXA): c.1305C> T (p.Tyr435=)single nucleotide variantLikely pathogenic, Pathogenicrs587779406GRCh37Chr 15, 72638893: 72638893
3HEXANM_000520.5(HEXA): c.718_719insT (p.Lys240Ilefs)insertionPathogenicrs587779407GRCh37Chr 15, 72642945: 72642946
4HEXANM_000520.5(HEXA): c.915_917delCTT (p.Phe305del)deletionLikely pathogenic, Pathogenicrs121907960GRCh37Chr 15, 72641489: 72641491
5HEXANM_000520.5(HEXA): c.947dupA (p.Tyr316Terfs)duplicationLikely pathogenicrs786204515GRCh37Chr 15, 72641459: 72641459
6HEXANM_000520.5(HEXA): c.986+3A> Gsingle nucleotide variantLikely pathogenicrs200926928GRCh38Chr 15, 72349076: 72349076
7HEXANM_000520.5(HEXA): c.1528C> T (p.Arg510Ter)single nucleotide variantLikely pathogenicrs786204585GRCh38Chr 15, 72344139: 72344139
8HEXANM_000520.5(HEXA): c.1307_1308delTA (p.Ile436Serfs)deletionLikely pathogenicrs777042785GRCh38Chr 15, 72346549: 72346550
9HEXANM_000520.5(HEXA): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenicrs786204721GRCh38Chr 15, 72375971: 72375971
10HEXANM_000520.5(HEXA): c.1123delG (p.Glu375Argfs)deletionLikely pathogenicrs766138785GRCh38Chr 15, 72347709: 72347709
11HEXANM_000520.5(HEXA): c.570+1G> Asingle nucleotide variantLikely pathogenicrs786204754GRCh38Chr 15, 72353067: 72353067
12HEXANM_000520.5(HEXA): c.806-7G> Asingle nucleotide variantPathogenicrs770932296GRCh37Chr 15, 72641607: 72641607
13HEXANM_000520.5(HEXA): c.1385A> T (p.Glu462Val)single nucleotide variantPathogenicrs863225434GRCh38Chr 15, 72346271: 72346271
14HEXANM_000520.5(HEXA): c.340G> A (p.Glu114Lys)single nucleotide variantPathogenicrs748190164GRCh37Chr 15, 72648872: 72648872
15HEXANM_000520.5(HEXA): c.1178G> C (p.Arg393Pro)single nucleotide variantPathogenicrs370266293GRCh37Chr 15, 72639020: 72639020
16HEXANM_000520.5(HEXA): c.964G> A (p.Asp322Asn)single nucleotide variantPathogenicrs772180415GRCh38Chr 15, 72349101: 72349101
17HEXANM_000520.5(HEXA): c.964G> T (p.Asp322Tyr)single nucleotide variantPathogenicrs772180415GRCh38Chr 15, 72349101: 72349101
18HEXANM_000520.5(HEXA): c.173G> A (p.Cys58Tyr)single nucleotide variantPathogenicrs387906949GRCh37Chr 15, 72668141: 72668141
19HEXANM_000520.5(HEXA): c.1274_1277dupTATC (p.Tyr427Ilefs)duplicationPathogenicrs387906309GRCh37Chr 15, 72638921: 72638924
20HEXANM_000520.5(HEXA): c.1421+1G> Csingle nucleotide variantPathogenicrs147324677GRCh37Chr 15, 72638575: 72638575
21NM_000520.5(HEXA): c.-2564_253+5128delinsGindelPathogenicGRCh38Chr 15, 72370592: 72378536
22HEXANM_000520.5(HEXA): c.1444G> A (p.Glu482Lys)single nucleotide variantPathogenicrs121907952GRCh37Chr 15, 72637869: 72637869
23HEXANM_000520.5(HEXA): c.346+1G> Csingle nucleotide variantPathogenicrs797044432GRCh38Chr 15, 72356524: 72356524
24HEXANM_000520.5(HEXA): c.1510delC (p.Arg504Alafs)deletionPathogenicrs797044433GRCh38Chr 15, 72345462: 72345462
25HEXANM_000520.5(HEXA): c.805G> A (p.Gly269Ser)single nucleotide variantPathogenicrs121907954GRCh37Chr 15, 72642859: 72642859
26HEXANM_000520.5(HEXA): c.509G> A (p.Arg170Gln)single nucleotide variantPathogenicrs121907957GRCh37Chr 15, 72645470: 72645470
27HEXANM_000520.5(HEXA): c.1260G> C (p.Trp420Cys)single nucleotide variantPathogenicrs121907958GRCh37Chr 15, 72638938: 72638938
28HEXANM_000520.5(HEXA): c.409C> T (p.Arg137Ter)single nucleotide variantPathogenicrs121907962GRCh37Chr 15, 72647903: 72647903
29HEXANM_000520.5(HEXA): c.1177C> T (p.Arg393Ter)single nucleotide variantPathogenicrs121907963GRCh37Chr 15, 72639021: 72639021
30HEXANM_000520.5(HEXA): c.1510C> T (p.Arg504Cys)single nucleotide variantLikely pathogenic, Pathogenicrs28942071GRCh37Chr 15, 72637803: 72637803
31HEXAHEXA, IVS4, G-T, -1single nucleotide variantPathogenic
32HEXANM_000520.5(HEXA): c.629C> T (p.Ser210Phe)single nucleotide variantPathogenicrs121907961GRCh37Chr 15, 72643517: 72643517
33HEXAHEXA, 5-BP DEL, TCTCC, IVS9deletionPathogenic
34HEXAHEXA, 2-BP DEL, TG, EX5deletionPathogenic
35HEXANM_000520.5(HEXA): c.78G> A (p.Trp26Ter)single nucleotide variantPathogenicrs121907964GRCh37Chr 15, 72668236: 72668236
36HEXANM_000520.5(HEXA): c.533G> T (p.Arg178Leu)single nucleotide variantPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446
37HEXAHEXA, IVS2, G-A, +1single nucleotide variantPathogenic
38HEXANM_000520.5(HEXA): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121907965GRCh37Chr 15, 72668313: 72668313
39HEXANM_000520.5(HEXA): c.1495C> T (p.Arg499Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121907966GRCh37Chr 15, 72637818: 72637818
40HEXANM_000520.5(HEXA): c.1453T> C (p.Trp485Arg)single nucleotide variantPathogenicrs121907968GRCh37Chr 15, 72637860: 72637860
41HEXAHEXA, 1-BP INSinsertionPathogenic
42HEXANM_000520.5(HEXA): c.540C> G (p.Tyr180Ter)single nucleotide variantPathogenicrs121907969GRCh37Chr 15, 72645439: 72645439
43HEXANM_000520.5(HEXA): c.1073+1G> Asingle nucleotide variantPathogenicrs76173977GRCh37Chr 15, 72640388: 72640388
44HEXANM_000520.5(HEXA): c.508C> T (p.Arg170Trp)single nucleotide variantPathogenicrs121907972GRCh37Chr 15, 72645471: 72645471
45HEXAHEXA, 2-BP DEL, CODON 310deletionPathogenic
46HEXANM_000520.5(HEXA): c.632T> C (p.Phe211Ser)single nucleotide variantPathogenicrs121907974GRCh37Chr 15, 72643514: 72643514
47HEXANM_000520.5(HEXA): c.380T> G (p.Leu127Arg)single nucleotide variantPathogenicrs121907975GRCh37Chr 15, 72647932: 72647932
48HEXANM_000520.5(HEXA): c.611A> G (p.His204Arg)single nucleotide variantPathogenicrs121907976GRCh37Chr 15, 72643535: 72643535
49HEXAHEXA, 2-BP DEL, TT, CODON 142deletionPathogenic
50HEXANM_000520.5(HEXA): c.902T> G (p.Met301Arg)single nucleotide variantPathogenicrs121907977GRCh37Chr 15, 72641504: 72641504
51HEXANM_000520.5(HEXA): c.1360G> A (p.Gly454Ser)single nucleotide variantPathogenicrs121907978GRCh37Chr 15, 72638637: 72638637
52HEXANM_000520.5(HEXA): c.116T> G (p.Leu39Arg)single nucleotide variantPathogenicrs121907979GRCh37Chr 15, 72668198: 72668198
53HEXANM_000520.5(HEXA): c.1176G> A (p.Trp392Ter)single nucleotide variantPathogenicrs267606862GRCh37Chr 15, 72639022: 72639022
54HEXAHEXA, IVS7, G-A, +1single nucleotide variantPathogenic
55HEXANM_000520.5(HEXA): c.1351C> G (p.Leu451Val)single nucleotide variantPathogenicrs28940871GRCh37Chr 15, 72638646: 72638646

Expression for genes affiliated with Tay-Sachs Disease

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Search GEO for disease gene expression data for Tay-Sachs Disease.

Pathways for genes affiliated with Tay-Sachs Disease

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Pathways related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9HEXA, HEXB
2
Show member pathways
9.3GLB1, HEXA, HEXB
3
Show member pathways
9.3GLB1, HEXA, HEXB
4
Show member pathways
9.3GLB1, HEXA, HEXB
5
Show member pathways
9.3GLB1, HEXA, HEXB
6
Show member pathways
9.3GLB1, HEXA, HEXB
77.5ARSA, CTSA, GLB1, GM2A, HEXA, HEXB
8
Show member pathways
7.5ARSA, CTSA, GLB1, GM2A, HEXA, HEXB
9
Show member pathways
6.9ARSA, CTSA, ETFA, GLB1, GM2A, HEXA

GO Terms for genes affiliated with Tay-Sachs Disease

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Cellular components related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1azurophil granuleGO:004258210.4HEXA, HEXB
2lysosomeGO:00057648.1ARSA, CTSA, GLB1, GM2A, HEXB
3lysosomal lumenGO:00432028.0ARSA, CTSA, GLB1, GM2A, HEXA, HEXB
4extracellular exosomeGO:00700626.3ARSA, CTSA, ETFA, GLB1, GM2A, HEXA

Biological processes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:000668910.4GM2A, HEXB
2hyaluronan catabolic processGO:003021410.2HEXA, HEXB
3oligosaccharide catabolic processGO:000931310.0GM2A, HEXB
4neuromuscular process controlling balanceGO:00508859.9GM2A, HEXB
5keratan sulfate catabolic processGO:00423409.8GLB1, HEXA, HEXB
6lipid storageGO:00199159.8GM2A, HEXB
7chondroitin sulfate catabolic processGO:00302079.6HEXA, HEXB
8glycosphingolipid metabolic processGO:00066877.6ARSA, CTSA, GLB1, GM2A, HEXA, HEXB

Molecular functions related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.2HEXA, HEXB
2beta-N-acetylhexosaminidase activityGO:000456310.0GM2A, HEXA, HEXB
3exo-alpha-sialidase activityGO:00043089.3CTSA, GLB1
4enzyme activator activityGO:00080479.0CTSA, GM2A, PSAP

Sources for Tay-Sachs Disease

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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