MCID: ADR007
MIFTS: 71

Adrenoleukodystrophy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Skin diseases

Aliases & Classifications for Adrenoleukodystrophy

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 51 34 11 70 47 48 69 26 12 49 38 13 67
X-Linked Adrenoleukodystrophy 11 23 47 24 25 53
X-Ald 23 47 24 25 53
Ald 11 47 53 69
Siemerling-Creutzfeldt Disease 11 25 69
Adrenomyeloneuropathy 53 69 67
Diffuse Cerebral Sclerosis of Schilder 11 67
Addison Disease and Cerebral Sclerosis 25 69
Melanodermic Leukodystrophy 25 69
Bronze Schilder Disease 11 69
Schilder's Disease 11 48
Diffuse Sclerosis 11 48
 
Schilder Disease 11 25
X-Linked Cerebral Adrenoleukodystrophy 53
Encephalitis Periaxialis Concentrica 11
Encephalitis Periaxialis, Schilder's 11
Sudanophilic Cerebral Sclerosis 11
Adrenoleukodystrophy, X-Linked 24
Adrenomyeloneuropathy, Adult 51
Balo's Concentric Sclerosis 67
Schilder-Addison Complex 25
Systemic Scleroderma 67
X-Linked Ald 53
Amn 69

Characteristics:

Orphanet epidemiological data:

53
x-linked adrenoleukodystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: All ages
x-linked cerebral adrenoleukodystrophy:
Inheritance: X-linked recessive; Age of onset: All ages
adrenomyeloneuropathy:
Inheritance: X-linked recessive; Age of onset: Adult

HPO:

63
adrenoleukodystrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: progressive

GeneReviews:

23
Penetrance: the biochemical phenotype of elevated plasma concentration of vlcfa has nearly 100% penetrance in males. ...


Classifications:



External Ids:

OMIM51 300100
Disease Ontology11 DOID:10588
ICD9CM31 341.1
ICD10 via Orphanet30 E71.3
UMLS via Orphanet68 C0162309, C1527231
MESH via Orphanet39 D000326

Summaries for Adrenoleukodystrophy

About this section
OMIM:51 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the... (300100) more...

MalaCards based summary: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to peroxisome biogenesis disorder 9b and peroxisomal disease, and has symptoms including urinary incontinence, hypogonadism and hearing impairment. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Nuclear receptors in lipid metabolism and toxicity. The drugs tolazoline and epoprostenol sodium have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:11 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.

Genetics Home Reference:25 X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.

NINDS:48 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the

UniProtKB/Swiss-Prot:69 Adrenoleukodystrophy: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.

Wikipedia:70 Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD,... more...

GeneReviews for NBK1315

Related Diseases for Adrenoleukodystrophy

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

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b31.3ACOX1, PEX5
2peroxisomal disease29.3ABCD3, PEX1, PEX10, PEX26, PEX5
3neonatal adrenoleukodystrophy12.3
4childhood-onset cerebral x-linked adrenoleukodystrophy12.1
5peroxisomal acyl-coa oxidase deficiency11.7
6megaloblastic anemia-1, finnish type11.7
7peroxisome biogenesis disorder 1b11.4
8mitochondrial dna depletion syndrome 4a11.3
9tumefactive multiple sclerosis11.3
10adrenomyeloneuropathy11.2
11pelizaeus-merzbacher disease11.2
12balo concentric sclerosis11.2
13peroxisome biogenesis disorder 1a11.0
14peroxisome biogenesis disorder 6b10.8
15peroxisome biogenesis disorder 11b10.8
16d-bifunctional protein deficiency10.8
17peroxisome biogenesis disorder 4b10.8
18peroxisome biogenesis disorder 5b10.8
19peroxisome biogenesis disorder 2b10.8
20peroxisome biogenesis disorder 3b10.8
21peroxisome biogenesis disorder 7b10.8
22peroxisome biogenesis disorder 6a10.6
23peroxisome biogenesis disorder 13a10.6
24peroxisome biogenesis disorder 12a10.6
25peroxisome biogenesis disorder 11a10.6
26peroxisome biogenesis disorder 4a10.6
27peroxisome biogenesis disorder 10a10.6
28peroxisome biogenesis disorder 5a10.6
29peroxisome biogenesis disorder 8a,10.6
30peroxisome biogenesis disorder 8b10.6
31peroxisome biogenesis disorder 2a10.6
32peroxisome biogenesis disorder 3a10.6
33peroxisome biogenesis disorder 7a10.6
34sudanophilic cerebral sclerosis10.6
35peroxisome biogenesis disorders, zellweger syndrome spectrum10.6
36myelinoclastic diffuse sclerosis10.6
37cerebritis10.5
38trigger thumb10.3PEX1, PEX6
39leukemia, b-cell, chronic10.2ABCD1, BCAP31
40larynx cancer10.2PEX26, PEX5
41spinocerebellar ataxia, x-linked 110.2ABCD1, BCAP31
42growth hormone deficiency, isolated, type ii10.1PEX1, PEX5
43addison's disease10.1
44perrault syndrome 110.1ACOX1, EHHADH
45hematopoietic stem cell transplantation10.0
46leukodystrophy10.0
47metachromatic leukodystrophy9.9
48peroxisome disorders9.9
49spinocerebellar degeneration9.9
50spasticity9.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to adrenoleukodystrophy

Symptoms for Adrenoleukodystrophy

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Symptoms by clinical synopsis from OMIM:

300100

Clinical features from OMIM:

300100

Human phenotypes related to Adrenoleukodystrophy:

 63 (show all 27)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence63 HP:0000020
2 hypogonadism63 HP:0000135
3 hearing impairment63 HP:0000365
4 visual loss63 HP:0000572
5 blindness63 HP:0000618
6 psychosis63 HP:0000709
7 dementia63 HP:0000726
8 impotence63 HP:0000802
9 abnormality of the skeletal system63 HP:0000924
10 hyperpigmentation of the skin63 HP:0000953
11 seizures63 HP:0001250
12 spastic paraplegia63 HP:0001258
13 polyneuropathy63 HP:0001271
14 bulbar palsy63 HP:0001283
15 slurred speech63 HP:0001350
16 limb ataxia63 HP:0002070
17 truncal ataxia63 HP:0002078
18 neurodegeneration63 HP:0002180
19 incoordination63 HP:0002311
20 loss of speech63 HP:0002371
21 paraparesis63 HP:0002385
22 abnormality of the cerebral white matter63 HP:0002500
23 bowel incontinence63 HP:0002607
24 urinary bladder sphincter dysfunction63 HP:0002839
25 elevated long chain fatty acids63 HP:0003455
26 attention deficit hyperactivity disorder63 HP:0007018
27 primary adrenal insufficiency63 HP:0008207

UMLS symptoms related to Adrenoleukodystrophy:


exanthema, pruritus, skin manifestations, oesophageal mucosa erythema, ataxia, muscle spasticity, seizures, paraparesis, absence of sensation, abnormal coordination, unspecified visual loss

Drugs & Therapeutics for Adrenoleukodystrophy

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

(show top 50)    (show all 111)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Prednisoloneapproved, vet_approvedPhase 3, Phase 2115350-24-85755
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
2
Methylprednisoloneapproved, vet_approvedPhase 3, Phase 2115383-43-26741
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
3
Busulfanapproved, investigationalPhase 2, Phase 354055-98-12478
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)
4
Cyclophosphamideapproved, investigationalPhase 2, Phase 3282950-18-0, 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
5
Glycerolexperimental, approvedPhase 2, Phase 322356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
6
Betaineapproved, nutraceuticalPhase 333107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
2-trimethylammonioacetate
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
TMG
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
7
Folic Acidapproved, nutraceutical, vet_approvedPhase 2, Phase 3427959-30-36037
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
8
Biotinapproved, nutraceuticalPhase 2, Phase 34358-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
9Prednisolone hemisuccinatePhase 3, Phase 21153
10Prednisolone phosphatePhase 3, Phase 21153
11AntiemeticsPhase 3, Phase 23888
12Protective AgentsPhase 3, Phase 27190
13Prednisolone acetatePhase 3, Phase 21153
14Peripheral Nervous System AgentsPhase 3, Phase 222776
15Autonomic AgentsPhase 3, Phase 29774
16Hormone AntagonistsPhase 3, Phase 212778
17glucocorticoidsPhase 3, Phase 24920
18Anti-Inflammatory AgentsPhase 3, Phase 210355
19HormonesPhase 3, Phase 213979
20Neuroprotective AgentsPhase 3, Phase 21672
21Methylprednisolone HemisuccinatePhase 3, Phase 21153
22Methylprednisolone acetatePhase 3, Phase 21153
23Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 212767
24Gastrointestinal AgentsPhase 3, Phase 28109
25Hypolipidemic AgentsPhase 32721
26Lipid Regulating AgentsPhase 32702
27Trace ElementsPhase 2, Phase 3, Phase 15802
28Vitamin B ComplexPhase 2, Phase 34229
29MicronutrientsPhase 2, Phase 3, Phase 15802
30Cholic AcidsPhase 39
31Alkylating AgentsPhase 2, Phase 34694
32Liver ExtractsPhase 33868
33VitaminsPhase 2, Phase 3, Phase 15095
34Bile Acids and SaltsPhase 3102
35Antilymphocyte SerumPhase 2, Phase 3399
36Antineoplastic Agents, AlkylatingPhase 2, Phase 34474
37Immunosuppressive AgentsPhase 2, Phase 312770
38Antirheumatic AgentsPhase 2, Phase 310627
39AntimetabolitesPhase 3, Phase 211774
40Pharmaceutical SolutionsPhase 2, Phase 37793
41FolateNutraceuticalPhase 2, Phase 34279
42Vitamin B9NutraceuticalPhase 2, Phase 34279
43Vitamin B7NutraceuticalPhase 2, Phase 343
44
Mycophenolic acidapprovedPhase 293924280-93-1446541
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
45
Mycophenolate mofetilapproved, investigationalPhase 2939128794-94-55281078
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
46
Clofarabineapproved, investigationalPhase 2157123318-82-1119182
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
47
BenzocaineapprovedPhase 218921994-09-7, 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
48
Cyclosporineapproved, investigational, vet_approvedPhase 291579217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
49
HydroxyureaapprovedPhase 2215127-07-13657
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
50
AcetylcysteineapprovedPhase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate

Interventional clinical trials:

(show all 35)
idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous MethylprednisoloneUnknown statusNCT00004645Phase 3
2Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
3Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
4Betaine and Peroxisome Biogenesis DisordersCompletedNCT01838941Phase 3
5A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)Active, not recruitingNCT01896102Phase 2, Phase 3
6MD1003-AMN MD1003 in AdrenomyeloneuropathyActive, not recruitingNCT02961803Phase 2, Phase 3
7Effect of Glycerol Trierucate on Clinical Course of AdrenoleukodystrophySuspendedNCT00004418Phase 2, Phase 3
8A Phase III Trial of Lorenzo's Oil in AdrenomyeloneuropathyTerminatedNCT00545597Phase 3
9ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
10A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of AntioxidantsCompletedNCT01495260Phase 2
11HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 2
12A Pilot Study of Vitamin D in Boys With X-linked AdrenoleukodystrophyRecruitingNCT02595489Phase 1, Phase 2
13Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and AdrenoleukodystrophyRecruitingNCT02559830Phase 1, Phase 2
14MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
15Reduced Intensity Conditioning in Patients Aged ≤35 With Non-Malignant Disorders Undergoing UCBT, BMT, or PBSCTRecruitingNCT01962415Phase 2
16Allogeneic Bone Marrow Transplant for Inherited Metabolic DisordersActive, not recruitingNCT01043640Phase 2
17Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
18Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)Not yet recruitingNCT02715505Phase 1, Phase 2
19UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
20Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
21MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)WithdrawnNCT02410239Phase 1
22Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)WithdrawnNCT01787578Phase 1
23Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese ChildrenUnknown statusNCT00278044
24Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationUnknown statusNCT00005900
25The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)CompletedNCT01165060
26Exercise Study of Function and Pathology for Women With X-linked AdrenoleukodystrophyCompletedNCT01594853
27Randomized Study of Beta Interferon and Thalidomide in Patients With AdrenoleukodystrophyCompletedNCT00004450
28Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092
29Newborn Screening for AdrenoleukodystrophyRecruitingNCT02952482
30Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)RecruitingNCT02204904
31Expanded Access for Lorenzo's Oil (GTO/GTE) in AdrenoleukodystrophyAvailableNCT02233257
32Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood TransplantsAvailableNCT01881334
33Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug ProductEnrolling by invitationNCT02698579
34Early Diagnosis Of Childhood Cerebral ALDNot yet recruitingNCT02948062
35Study of Bile Acids in Patients With Peroxisomal DisordersTerminatedNCT00004442

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS67/NDF-RT45:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Adrenoleukodystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Adrenoleukodystrophy

About this section

Genetic tests related to Adrenoleukodystrophy:

id Genetic test Affiliating Genes
1 Adrenoleukodystrophy26
2 Adrenoleukodystrophy, X-Linked24 ABCD1

Anatomical Context for Adrenoleukodystrophy

About this section

MalaCards organs/tissues related to Adrenoleukodystrophy:

35
Brain, Cortex, Adrenal gland, Adrenal cortex, Skin, Testes, Bone

Animal Models for Adrenoleukodystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Adrenoleukodystrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.8ABCB6, ABCD1, ABCD2, ABCD3, ACOX1, CAT

Publications for Adrenoleukodystrophy

About this section

Articles related to Adrenoleukodystrophy:

(show top 50)    (show all 699)
idTitleAuthorsYear
1
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. (26836218)
2016
2
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. (27337030)
2016
3
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease. (27248780)
2016
4
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report. (26607867)
2015
5
Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. (26073123)
2015
6
MRI in X-linked adrenoleukodystrophy. (25583825)
2015
7
Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient. (25835712)
2015
8
Age-dependent penetrance among females with X-linked adrenoleukodystrophy. (25149409)
2014
9
No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. (22388279)
2012
10
Brain fludeoxyglucose F 18 positron emission tomography hypometabolism in magnetic resonance imaging-negative x-linked adrenoleukodystrophy. (21987553)
2011
11
Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy. (21273354)
2011
12
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (21700483)
2011
13
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy. (21966617)
2011
14
Adult-onset adrenoleukodystrophy heralded by auditory hallucinations and delusions. (21907075)
2011
15
Turning skin into brain: using patient-derived cells to model X-linked adrenoleukodystrophy. (21905077)
2011
16
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy. (21273699)
2010
17
Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy. (20077240)
2010
18
Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. (18212787)
2008
19
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. (18481121)
2008
20
Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. (17828604)
2007
21
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. (17602313)
2007
22
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes. (17524384)
2007
23
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy. (17254818)
2007
24
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. (17092750)
2007
25
Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. (16401737)
2006
26
The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD). (16415970)
2006
27
Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations. (17183459)
2006
28
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. (16087056)
2005
29
Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy. (12838202)
2003
30
Epidemiology of X-linked adrenoleukodystrophy in Japan. (12436195)
2002
31
Adrenoleukodystrophy mimicking multiple sclerosis]. (11688182)
2001
32
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. (11336405)
2001
33
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. (11310629)
2001
34
Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues. (11112418)
2000
35
Adrenoleukodystrophy associated with psychosis. (11184478)
2000
36
Acute presentation of childhood adrenoleukodystrophy. (11508547)
2000
37
Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. (10453801)
1999
38
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. (10088993)
1999
39
Transient visual symptoms as the initial manifestation of childhood adrenoleukodystrophy. (9682889)
1998
40
Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. (9051655)
1997
41
Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. (9126326)
1997
42
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy. (9329427)
1997
43
Atypical presentation of X-linked childhood adrenoleukodystrophy with an unusual magnetic resonance imaging pattern. (9120233)
1996
44
A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. (7876858)
1995
45
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. (8004093)
1994
46
X-Linked Adrenoleukodystrophy (20301491)
1993
47
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis. (8507690)
1993
48
Molecular genetics of adrenoleukodystrophy]. (8411713)
1993
49
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
50
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. (6874949)
1983

Variations for Adrenoleukodystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

69 (show all 138)
id Symbol AA change Variation ID SNP ID
1ABCD1p.Ser98LeuVAR_000024
2ABCD1p.Arg104CysVAR_000025
3ABCD1p.Arg104HisVAR_000026
4ABCD1p.Thr105IleVAR_000027
5ABCD1p.Leu107ProVAR_000028
6ABCD1p.Ser108TrpVAR_000029
7ABCD1p.Gly116ArgVAR_000030rs398123110
8ABCD1p.Ala141ThrVAR_000033rs193922097
9ABCD1p.Asn148SerVAR_000034rs128624216
10ABCD1p.Ser149AsnVAR_000035
11ABCD1p.Arg152CysVAR_000036
12ABCD1p.Arg152ProVAR_000037
13ABCD1p.Arg163HisVAR_000038
14ABCD1p.Tyr174AspVAR_000039rs128624217
15ABCD1p.Tyr174SerVAR_000040
16ABCD1p.Gln178GluVAR_000041
17ABCD1p.Tyr181CysVAR_000042
18ABCD1p.Arg182ProVAR_000043
19ABCD1p.Asp194HisVAR_000044
20ABCD1p.Asp200ValVAR_000045
21ABCD1p.Leu211ProVAR_000046
22ABCD1p.Leu220ProVAR_000047
23ABCD1p.Asp221GlyVAR_000048
24ABCD1p.Thr254MetVAR_000049
25ABCD1p.Thr254ProVAR_000050
26ABCD1p.Pro263LeuVAR_000051
27ABCD1p.Gly266ArgVAR_000052rs128624218
28ABCD1p.Lys276GluVAR_000053
29ABCD1p.Gly277ArgVAR_000054
30ABCD1p.Gly277TrpVAR_000056
31ABCD1p.Glu291AspVAR_000057
32ABCD1p.Glu291LysVAR_000058rs128624213
33ABCD1p.Ala294ThrVAR_000060
34ABCD1p.Ser342ProVAR_000061
35ABCD1p.Arg389GlyVAR_000062rs128624215
36ABCD1p.Arg389HisVAR_000063
37ABCD1p.Arg401GlnVAR_000064rs128624219
38ABCD1p.Arg418TrpVAR_000065rs128624220
39ABCD1p.Pro484ArgVAR_000066rs128624214
40ABCD1p.Gly507ValVAR_000067
41ABCD1p.Gly512SerVAR_000068
42ABCD1p.Ser515PheVAR_000069rs128624223
43ABCD1p.Arg518GlnVAR_000070rs398123102
44ABCD1p.Arg518TrpVAR_000071rs128624224
45ABCD1p.Gly522TrpVAR_000072
46ABCD1p.Pro534LeuVAR_000074
47ABCD1p.Pro560LeuVAR_000075rs398123105
48ABCD1p.Pro560ArgVAR_000076
49ABCD1p.Met566LysVAR_000077
50ABCD1p.Arg591GlnVAR_000078
51ABCD1p.Ser606LeuVAR_000079rs128624225
52ABCD1p.Ser606ProVAR_000080rs201774661
53ABCD1p.Glu609GlyVAR_000081
54ABCD1p.Glu609LysVAR_000082rs150346282
55ABCD1p.Arg617CysVAR_000083rs4010613
56ABCD1p.Arg617GlyVAR_000084
57ABCD1p.Arg617HisVAR_000085rs11146842
58ABCD1p.Ala626ThrVAR_000086
59ABCD1p.Asp629HisVAR_000087
60ABCD1p.Arg660TrpVAR_000089
61ABCD1p.Trp679ArgVAR_000090
62ABCD1p.Glu90LysVAR_009349
63ABCD1p.Ser103ArgVAR_009350
64ABCD1p.Thr105ProVAR_009351
65ABCD1p.Ser108LeuVAR_009352
66ABCD1p.Arg113CysVAR_009353
67ABCD1p.Pro143SerVAR_009354
68ABCD1p.Arg152LeuVAR_009355
69ABCD1p.Arg152SerVAR_009356
70ABCD1p.Ser161ProVAR_009357
71ABCD1p.Arg163ProVAR_009358
72ABCD1p.Tyr174CysVAR_009359
73ABCD1p.Arg189TrpVAR_009360
74ABCD1p.Leu190ProVAR_009361
75ABCD1p.Thr198LysVAR_009362
76ABCD1p.Asp200AsnVAR_009363
77ABCD1p.Ser213CysVAR_009364
78ABCD1p.Asn214AspVAR_009365
79ABCD1p.Pro218ThrVAR_009366
80ABCD1p.Leu229ProVAR_009367
81ABCD1p.Glu271LysVAR_009368
82ABCD1p.Arg285ProVAR_009369
83ABCD1p.Tyr296CysVAR_009370rs797044610
84ABCD1p.Gly298AspVAR_009371
85ABCD1p.Glu302LysVAR_009372
86ABCD1p.Leu322ProVAR_009373
87ABCD1p.Lys336MetVAR_009374
88ABCD1p.Arg401TrpVAR_009375
89ABCD1p.Gly529SerVAR_009376
90ABCD1p.Phe540SerVAR_009377
91ABCD1p.Pro543LeuVAR_009378
92ABCD1p.Gln544ArgVAR_009379
93ABCD1p.Ser552ProVAR_009380
94ABCD1p.Arg554HisVAR_009381rs201568579
95ABCD1p.Arg591TrpVAR_009382rs398123106
96ABCD1p.Ala616ValVAR_009383
97ABCD1p.Glu630GlyVAR_009384
98ABCD1p.Cys631TyrVAR_009385
99ABCD1p.Ser633ArgVAR_009386
100ABCD1p.Ser636IleVAR_009387
101ABCD1p.Asp638TyrVAR_009388
102ABCD1p.Ala646ProVAR_009389
103ABCD1p.Leu654ProVAR_009390
104ABCD1p.His667AspVAR_009391
105ABCD1p.Thr668IleVAR_009392
106ABCD1p.Thr693MetVAR_009393rs782311214
107ABCD1p.Ala99AspVAR_013341
108ABCD1p.Arg113ProVAR_013342
109ABCD1p.Lys217GluVAR_013344
110ABCD1p.Val224GluVAR_013345
111ABCD1p.Arg274TrpVAR_013346rs782760033
112ABCD1p.Arg280CysVAR_013347rs193922098
113ABCD1p.Trp339ArgVAR_013349
114ABCD1p.Gly343AspVAR_013350
115ABCD1p.Gln556ArgVAR_013352
116ABCD1p.Pro560SerVAR_013353
117ABCD1p.Arg591ProVAR_013354
118ABCD1p.Gly608AspVAR_013355rs78993751
119ABCD1p.Ala626AspVAR_013356
120ABCD1p.Thr632IleVAR_013357
121ABCD1p.Ser633IleVAR_013358
122ABCD1p.Val635MetVAR_013359rs201427153
123ABCD1p.Arg660ProVAR_013360
124ABCD1p.Cys88TrpVAR_023004
125ABCD1p.Gly343SerVAR_023005
126ABCD1p.Leu503ProVAR_023006
127ABCD1p.Ser514ArgVAR_023007
128ABCD1p.Thr198ArgVAR_067240
129ABCD1p.Gly266GluVAR_067241
130ABCD1p.Leu523PheVAR_067242
131ABCD1p.Phe540CysVAR_067243
132ABCD1p.Thr632ProVAR_067244
133ABCD1p.Glu640LysVAR_067245
134ABCD1p.Gly677AspVAR_067246
135ABCD1p.Leu516ProVAR_067328
136ABCD1p.Arg660GlnVAR_067329
137ABCD1p.Ala95AspVAR_075284
138ABCD1p.Gln316ProVAR_075285

Clinvar genetic disease variations for Adrenoleukodystrophy:

5 (show all 54)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCD1NM_000033.3(ABCD1): c.871G> A (p.Glu291Lys)SNVPathogenicrs128624213GRCh37Chr X, 152991592: 152991592
2ABCD1NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg)SNVPathogenicrs128624214GRCh37Chr X, 153002668: 153002668
3ABCD1ABCD1, IVS6AS, A-G, -2SNVPathogenicChr na, -1: -1
4ABCD1ABCD1, IVS8AS, G-A, -10, 8-BP INSinsertionPathogenicChr na, -1: -1
5ABCD1NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly)SNVPathogenicrs128624215GRCh37Chr X, 153001649: 153001649
6ABCD1NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser)SNVPathogenicrs128624216GRCh37Chr X, 152991164: 152991164
7ABCD1NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp)SNVPathogenicrs128624217GRCh37Chr X, 152991241: 152991241
8ABCD1NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg)SNVPathogenicrs128624218GRCh37Chr X, 152991517: 152991517
9ABCD1NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln)SNVPathogenicrs128624219GRCh37Chr X, 153001686: 153001686
10ABCD1NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp)SNVPathogenicrs128624220GRCh37Chr X, 153001826: 153001826
11ABCD1NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter)SNVPathogenicrs128624221GRCh37Chr X, 153001964: 153001964
12ABCD1NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs)deletionPathogenicrs387906494GRCh37Chr X, 153002632: 153002633
13ABCD1NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter)SNVPathogenicrs128624222GRCh37Chr X, 153002646: 153002646
14ABCD1NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe)SNVPathogenicrs128624223GRCh37Chr X, 153005601: 153005601
15ABCD1NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs)deletionPathogenicrs387906495GRCh37Chr X, 153005609: 153005609
16ABCD1NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp)SNVPathogenicrs128624224GRCh37Chr X, 153005609: 153005609
17ABCD1ABCD1, IVS6DS, G-A, +1SNVPathogenicChr na, -1: -1
18ABCD1ABCD1, 2-BP DEL, 2177TAdeletionPathogenicChr na, -1: -1
19ABCD1NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu)SNVPathogenicrs128624225GRCh37Chr X, 153008477: 153008477
20ABCD1NM_000033.3(ABCD1): c.1850G> A (p.Arg617His)SNVPathogenicrs11146842GRCh37Chr X, 153008510: 153008510
21ABCD1NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys)SNVPathogenicrs4010613GRCh37Chr X, 153008509: 153008509
22ABCD1NM_000033.3(ABCD1): c.871_873delGAG (p.Glu292del)deletionPathogenicrs387906496GRCh37Chr X, 152991592: 152991594
23ABCD1ABCD1, IVS8DS, G-A, +1SNVPathogenicChr na, -1: -1
24ABCD1ABCD1, IVS1DS, G-A, -1SNVPathogenicChr na, -1: -1
25ABCD1NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del)deletionPathogenicrs387906497GRCh37Chr X, 152990704: 152990729
26ABCD1NM_000033.3(ABCD1): c.253dupC (p.Arg85Profs)duplicationPathogenicrs713993050GRCh38Chr X, 153725519: 153725519
27ABCD1NM_000033.3(ABCD1): c.1201C> G (p.Arg401Gly)SNVLikely pathogenicrs727503786GRCh37Chr X, 153001685: 153001685
28ABCD1NM_000033.3(ABCD1): c.1661G> A (p.Arg554His)SNVPathogenicrs201568579GRCh37Chr X, 153006054: 153006054
29ABCD1NM_000033.3(ABCD1): c.1825G> A (p.Glu609Lys)SNVPathogenicrs150346282GRCh37Chr X, 153008485: 153008485
30ABCD1NM_000033.3(ABCD1): c.887A> G (p.Tyr296Cys)SNVPathogenicrs797044610GRCh37Chr X, 152991608: 152991608
31ABCD1NM_000033.3(ABCD1): c.886T> C (p.Tyr296His)SNVLikely pathogenicrs797044611GRCh37Chr X, 152991607: 152991607
32ABCD1NM_000033.3(ABCD1): c.2006_2007delAC (p.His669Leufs)deletionPathogenicrs797044625GRCh37Chr X, 153008957: 153008958
33ABCD1NM_000033.3(ABCD1): c.1992-2A> GSNVPathogenicrs797044626GRCh37Chr X, 153008941: 153008941
34ABCD1NM_000033.3(ABCD1): c.1288C> T (p.Gln430Ter)SNVPathogenicrs797044726GRCh37Chr X, 153001862: 153001862
35ABCD1NM_000033.3(ABCD1): c.1781-1G> ASNVPathogenicrs797044781GRCh37Chr X, 153008440: 153008440
36ABCD1NM_000033.3(ABCD1): c.651G> C (p.Lys217Asn)SNVLikely pathogenicrs864309520GRCh37Chr X, 152991372: 152991372
37ABCD1NM_000033.3(ABCD1): c.1366dupC (p.Arg456Profs)duplicationLikely pathogenicrs193922093GRCh37Chr X, 153001940: 153001940
38ABCD1NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro)SNVLikely pathogenicrs193922094GRCh37Chr X, 153005649: 153005649
39ABCD1NM_000033.3(ABCD1): c.421G> A (p.Ala141Thr)SNVPathogenicrs193922097GRCh37Chr X, 152991142: 152991142
40ABCD1NM_000033.3(ABCD1): c.838C> T (p.Arg280Cys)SNVLikely pathogenicrs193922098GRCh37Chr X, 152991559: 152991559
41ABCD1NM_000033.3(ABCD1): c.529C> T (p.Gln177Ter)SNVPathogenicGRCh37Chr X, 152991250: 152991250
42ABCD1NM_000033.3(ABCD1): c.1396C> T (p.Gln466Ter)SNVPathogenicrs398123100GRCh37Chr X, 153002613: 153002613
43ABCD1NM_000033.3(ABCD1): c.1553G> A (p.Arg518Gln)SNVPathogenicrs398123102GRCh37Chr X, 153005610: 153005610
44ABCD1NM_000033.3(ABCD1): c.1586G> A (p.Gly529Asp)SNVLikely pathogenicrs398123103GRCh37Chr X, 153005643: 153005643
45ABCD1NM_000033.3(ABCD1): c.1660C> A (p.Arg554Ser)SNVLikely pathogenicrs398123104GRCh37Chr X, 153006053: 153006053
46ABCD1NM_000033.3(ABCD1): c.1679C> T (p.Pro560Leu)SNVPathogenicrs398123105GRCh37Chr X, 153006072: 153006072
47ABCD1NM_000033.3(ABCD1): c.1771C> T (p.Arg591Trp)SNVPathogenicrs398123106GRCh37Chr X, 153006164: 153006164
48ABCD1NM_000033.3(ABCD1): c.1802G> A (p.Trp601Ter)SNVPathogenicrs398123107GRCh37Chr X, 153008462: 153008462
49ABCD1NM_000033.3(ABCD1): c.1866-10G> ASNVPathogenicrs398123108GRCh37Chr X, 153008665: 153008665
50ABCD1NM_000033.3(ABCD1): c.31_46del16 (p.Arg11Serfs)deletionPathogenicrs398123109GRCh37Chr X, 152990752: 152990767
51ABCD1NM_000033.3(ABCD1): c.346G> A (p.Gly116Arg)SNVPathogenicrs398123110GRCh37Chr X, 152991067: 152991067
52ABCD1NM_000033.3(ABCD1): c.406C> T (p.Gln136Ter)SNVPathogenicrs398123111GRCh37Chr X, 152991127: 152991127
53ABCD1NM_000033.3(ABCD1): c.498_520del23 (p.Val167Leufs)deletionPathogenicrs398123112GRCh37Chr X, 152991219: 152991241
54ABCD1NM_000033.3(ABCD1): c.614C> A (p.Ala205Glu)SNVLikely pathogenicrs398123113GRCh37Chr X, 152991335: 152991335

Expression for genes affiliated with Adrenoleukodystrophy

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Search GEO for disease gene expression data for Adrenoleukodystrophy.

Pathways for genes affiliated with Adrenoleukodystrophy

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GO Terms for genes affiliated with Adrenoleukodystrophy

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Cellular components related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-binding cassette (ABC) transporter complexGO:004319010.6ABCB6, ABCD4
2integral component of peroxisomal membraneGO:00057799.9ABCD1, PEX10, PEX26, SLC27A2
3peroxisomal matrixGO:00057829.7ABCD3, ACOX1, CAT, EHHADH
4intracellular membrane-bounded organelleGO:00432318.4ABCD2, ABCD3, ACOX1, CAT, PEX1, PEX19
5mitochondrionGO:00057397.6ABCB6, ABCD1, ABCD3, ACOX1, BCAP31, CAT
6cytosolGO:00058296.6ABCD1, ABCD2, ABCD3, BCAP31, CAT, EHHADH
7peroxisomal membraneGO:00057786.5ABCD1, ABCD2, ABCD3, ABCD4, ACOX1, CAT
8peroxisomeGO:00057775.7ABCD1, ABCD2, ABCD3, ABCD4, ACOX1, CAT

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1peroxisomal long-chain fatty acid importGO:001591010.7ABCD1, ABCD3
2alpha-linolenic acid metabolic processGO:003610910.7ABCD1, ACOX1
3fatty acid beta-oxidation using acyl-CoA oxidaseGO:003354010.3ABCD1, ACOX1
4very long-chain fatty acid metabolic processGO:000003810.1ABCD2, ACOX1
5very long-chain fatty acid catabolic processGO:004276010.0ABCD1, ABCD2, ABCD3, SLC27A2
6cellular lipid metabolic processGO:00442559.8EHHADH, PEX5
7protein import into peroxisome membraneGO:00450469.8PEX19, PEX26, PEX5
8protein import into peroxisome matrixGO:00165589.7PEX1, PEX10, PEX26, PEX5
9protein targeting to peroxisomeGO:00066259.2PEX1, PEX19, PEX6
10fatty acid beta-oxidationGO:00066358.7ABCD1, ABCD2, ABCD3, EHHADH, PEX5, SLC27A2
11transmembrane transportGO:00550858.4ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, PEX19
12peroxisome organizationGO:00070318.0ABCD1, ABCD3, PEX1, PEX10, PEX19, PEX5

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1long-chain fatty acid transporter activityGO:000532410.5ABCD1, ABCD2, ABCD3
2ATPase activity, coupled to transmembrane movement of substancesGO:004262610.1ABCD1, ABCD2, ABCD3, ABCD4
3ATPase activity, coupledGO:004262310.0PEX1, PEX6
4protein N-terminus bindingGO:00474859.8ACOX1, PEX19, PEX5
5ATPase activityGO:00168879.4ABCD1, ABCD3, PEX6
6protein C-terminus bindingGO:00080229.1PEX1, PEX26, PEX6
7receptor bindingGO:00051029.1ACOX1, CAT, EHHADH, SLC27A2
8protein complex bindingGO:00324038.6BCAP31, PEX1, PEX26, PEX6
9enzyme bindingGO:00198998.5ABCD1, CAT, EHHADH, PEX5, SLC27A2
10ATP bindingGO:00055247.6ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, PEX1

Sources for Adrenoleukodystrophy

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