ALD
MCID: ADR007
MIFTS: 72

Adrenoleukodystrophy (ALD) malady

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

Aliases & Classifications for Adrenoleukodystrophy

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 52 35 11 71 48 49 70 27 12 50 39 13 68
X-Linked Adrenoleukodystrophy 11 23 48 24 25 54
X-Ald 23 48 24 25 54
Ald 11 48 54 70
Siemerling-Creutzfeldt Disease 11 25 70
Adrenomyeloneuropathy 54 70 68
Diffuse Cerebral Sclerosis of Schilder 11 68
Addison Disease and Cerebral Sclerosis 25 70
Melanodermic Leukodystrophy 25 70
Bronze Schilder Disease 11 70
Schilder's Disease 11 49
Diffuse Sclerosis 11 49
 
Schilder Disease 11 25
X-Linked Cerebral Adrenoleukodystrophy 54
Encephalitis Periaxialis, Schilder's 11
Encephalitis Periaxialis Concentrica 11
Sudanophilic Cerebral Sclerosis 11
Adrenoleukodystrophy, X-Linked 24
Adrenomyeloneuropathy, Adult 52
Balo's Concentric Sclerosis 68
Schilder-Addison Complex 25
Systemic Scleroderma 68
X-Linked Ald 54
Amn 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 300100
Disease Ontology11 DOID:10588
ICD9CM32 341.1
ICD10 via Orphanet31 E71.3
UMLS via Orphanet69 C0162309, C1527231
MESH via Orphanet40 D000326

Summaries for Adrenoleukodystrophy

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NINDS:49 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the  that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected.  People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN) which typically begins between ages 21 and 35.  Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD.  X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.

MalaCards based summary: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to neonatal adrenoleukodystrophy and childhood-onset cerebral x-linked adrenoleukodystrophy, and has symptoms including exanthema, pruritus and hidebound skin. 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 chloroquine phosphate and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related mouse phenotype homeostasis/metabolism.

NIH Rare Diseases:48 X-linked adrenoleukodystrophy (x-ald) is an inherited condition that occurs mostly in males.  the condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). people with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. they may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex), called adrenocortical insufficiency.  x-ald is caused by mutations in the abcd1 gene. these gene mutations cause a shortage (deficiency) of a protein called adrenoleukodystrophy protein (aldp).  a deficiency of this protein leads to an abnormally high level of fat molecules called very long-chain fatty acids (vlcfa) to build up in the body.  high levels of vlcfa may be toxic to the adrenal cortex and myelin.  there are several forms of x-ald including: a childhood cerebral form, an adrenomyeloneuropathy (amn) type, and an adrenal insufficiency-only type. another form of ald is occasionally seen in women who are carriers of the condition a specific treatment for x-ald is not currently available, but eating a diet low in vlcfa and taking special oils can lower the blood levels of vlcfa. bone marrow transplantation (bmt) may be an option for boys and adolescents in early stages who have evidence of brain involvement on mri.  adrenocortical insufficiency is treated with cortisone replacement. last updated: 8/6/2013

UniProtKB/Swiss-Prot:70 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.

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.

OMIM:52 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the... (300100) more...

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.

Wikipedia:71 Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked... 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 108)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal adrenoleukodystrophy12.3
2childhood-onset cerebral x-linked adrenoleukodystrophy12.0
3peroxisomal acyl-coa oxidase deficiency11.7
4adrenomyeloneuropathy11.7
5peroxisome biogenesis disorder 1b11.4
6mitochondrial dna depletion syndrome 4a11.3
7tumefactive multiple sclerosis11.3
8balo concentric sclerosis11.3
9pelizaeus-merzbacher disease11.2
10leukodystrophy11.1
11zellweger syndrome11.0
12spasticity11.0
13peroxisome biogenesis disorder 1a10.9
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 disorders, zellweger syndrome spectrum10.8
23peroxisome biogenesis disorder 6a10.6
24peroxisome biogenesis disorder 13a10.6
25peroxisome biogenesis disorder 12a10.6
26peroxisome biogenesis disorder 11a10.6
27peroxisome biogenesis disorder 4a10.6
28peroxisome biogenesis disorder 9b10.6
29peroxisome biogenesis disorder 10a10.6
30peroxisome biogenesis disorder 5a10.6
31peroxisome biogenesis disorder 8a,10.6
32peroxisome biogenesis disorder 8b10.6
33peroxisome biogenesis disorder 2a10.6
34peroxisome biogenesis disorder 3a10.6
35peroxisome biogenesis disorder 7a10.6
36sudanophilic cerebral sclerosis10.6
37myelinoclastic diffuse sclerosis10.6
38cerebritis10.5
39chronic polyradiculoneuritis10.1ABCD1, BCAP31
40short-rib thoracic dysplasia 13 with or without polydactyly10.1ACOX1, EHHADH
41spinocerebellar ataxia, x-linked 110.1ABCD1, BCAP31
42addison's disease10.1
43glottis neoplasm10.1PEX26, PEX5
44growth hormone deficiency, isolated, type ii10.0PEX1, PEX5
45parapsoriasis10.0ABCD1, ABCD3, PEX5
46hematopoietic stem cell transplantation10.0
47peroxisomal disease9.9
48mental retardation, autosomal recessive 449.9ACOX1, CAT, PEX5
49brachyolmia9.9ABCB6, ABCD3
50metachromatic leukodystrophy9.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to adrenoleukodystrophy

Symptoms & Phenotypes for Adrenoleukodystrophy

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Symptoms by clinical synopsis from OMIM:

300100

Clinical features from OMIM:

300100

Human phenotypes related to Adrenoleukodystrophy:

 54 64 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision54 Very frequent (99-80%)
2 visual impairment54 Very frequent (99-80%)
3 visual loss64 54 Very frequent (99-80%) HP:0000572
4 behavioral abnormality54 Very frequent (99-80%)
5 dementia64 54 Very frequent (99-80%) HP:0000726
6 hyperactivity54 Very frequent (99-80%)
7 intellectual disability54 Very frequent (99-80%)
8 gait disturbance54 Very frequent (99-80%)
9 specific learning disability54 Very frequent (99-80%)
10 progressive hearing impairment54 Very frequent (99-80%)
11 abnormality of metabolism/homeostasis54 Very frequent (99-80%)
12 incoordination64 54 Very frequent (99-80%) HP:0002311
13 clumsiness54 Very frequent (99-80%)
14 headache54 Very frequent (99-80%)
15 paraparesis64 54 Very frequent (99-80%) HP:0002385
16 sensory impairment54 Very frequent (99-80%)
17 functional motor problems54 Very frequent (99-80%)
18 attention deficit hyperactivity disorder64 54 Very frequent (99-80%) HP:0007018
19 progressive spastic paraparesis54 Very frequent (99-80%)
20 leg muscle stiffness54 Very frequent (99-80%)
21 cognitive impairment54 Very frequent (99-80%)
22 neurogenic bladder54 Frequent (79-30%)
23 aggressive behavior54 Frequent (79-30%)
24 disinhibition54 Frequent (79-30%)
25 adrenal insufficiency54 Frequent (79-30%)
26 visual field defect54 Frequent (79-30%)
27 hemiparesis54 Frequent (79-30%)
28 aphasia54 Frequent (79-30%)
29 increased intracranial pressure54 Frequent (79-30%)
30 urinary bladder sphincter dysfunction64 54 Frequent (79-30%) HP:0002839
31 increased circulating acth level54 Frequent (79-30%)
32 inappropriate sexual behavior54 Frequent (79-30%)
33 abnormality of adrenal physiology54 Frequent (79-30%)
34 diplopia54 Occasional (29-5%)
35 impotence64 54 Occasional (29-5%) HP:0000802
36 paralysis54 Occasional (29-5%)
37 urinary incontinence64 HP:0000020
38 hypogonadism64 HP:0000135
39 hearing impairment64 HP:0000365
40 blindness64 HP:0000618
41 psychosis64 HP:0000709
42 abnormality of the skeletal system64 HP:0000924
43 hyperpigmentation of the skin64 HP:0000953
44 seizures64 HP:0001250
45 spastic paraplegia64 HP:0001258
46 polyneuropathy64 HP:0001271
47 bulbar palsy64 HP:0001283
48 slurred speech64 HP:0001350
49 limb ataxia64 HP:0002070
50 truncal ataxia64 HP:0002078
51 neurodegeneration64 HP:0002180
52 loss of speech64 HP:0002371
53 abnormality of the cerebral white matter64 HP:0002500
54 bowel incontinence64 HP:0002607
55 elevated long chain fatty acids64 HP:0003455
56 primary adrenal insufficiency64 HP:0008207

UMLS symptoms related to Adrenoleukodystrophy:


exanthema, pruritus, hidebound skin, ataxia, muscle spasticity, seizures, paraparesis, absence of sensation, abnormal coordination, unspecified visual loss

MGI Mouse Phenotypes related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.0ABCB6, ABCD1, ABCD2, ABCD3, ACOX1, CAT

Drugs & Therapeutics for Adrenoleukodystrophy

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

(show top 50)    (show all 103)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Prednisoloneapproved, vet_approvedPhase 3, Phase 2119350-24-85755
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 2119383-43-26741
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 354555-98-12478
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 3293550-18-0, 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 323856-81-5753
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 334107-43-7247
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 3439259-30-36037
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 34658-85-5171548
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 21193
10Prednisolone phosphatePhase 3, Phase 21193
11AntiemeticsPhase 34022
12Protective AgentsPhase 3, Phase 27443
13Prednisolone acetatePhase 3, Phase 21193
14Peripheral Nervous System AgentsPhase 323689
15Autonomic AgentsPhase 310150
16Hormone AntagonistsPhase 313180
17glucocorticoidsPhase 35103
18Anti-Inflammatory AgentsPhase 310729
19HormonesPhase 314415
20Neuroprotective AgentsPhase 31716
21Methylprednisolone HemisuccinatePhase 3, Phase 21193
22Methylprednisolone acetatePhase 3, Phase 21193
23Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
24Gastrointestinal AgentsPhase 38402
25Hypolipidemic AgentsPhase 32785
26Lipid Regulating AgentsPhase 32766
27Trace ElementsPhase 2, Phase 3, Phase 16001
28Vitamin B ComplexPhase 2, Phase 34337
29MicronutrientsPhase 2, Phase 3, Phase 16001
30Cholic AcidsPhase 311
31Alkylating AgentsPhase 2, Phase 34827
32Liver ExtractsPhase 34067
33VitaminsPhase 2, Phase 3, Phase 15282
34Bile Acids and SaltsPhase 3106
35Antilymphocyte SerumPhase 2, Phase 3408
36Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
37Immunosuppressive AgentsPhase 2, Phase 313086
38Antirheumatic AgentsPhase 2, Phase 310956
39AntimetabolitesPhase 3, Phase 212054
40Pharmaceutical SolutionsPhase 2, Phase 38192
41FolateNutraceuticalPhase 2, Phase 34392
42Vitamin B9NutraceuticalPhase 2, Phase 34392
43Vitamin B7NutraceuticalPhase 2, Phase 346
44
BenzocaineapprovedPhase 220161994-09-7, 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
45
Clofarabineapproved, investigationalPhase 2159123318-82-1119182
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
46
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
47
Cyclosporineapproved, investigational, vet_approvedPhase 292279217-60-0, 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
48
HydroxyureaapprovedPhase 2223127-07-13657
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
49
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
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-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
50
Mycophenolic acidapprovedPhase 295224280-93-1446541
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

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)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 for 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
18UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
19Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
20MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)WithdrawnNCT02410239Phase 1
21Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)WithdrawnNCT01787578Phase 1
22Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese ChildrenUnknown statusNCT00278044
23Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationUnknown statusNCT00005900
24The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)CompletedNCT01165060
25Exercise Study of Function and Pathology for Women With X-linked AdrenoleukodystrophyCompletedNCT01594853
26Randomized Study of Beta Interferon and Thalidomide in Patients With AdrenoleukodystrophyCompletedNCT00004450
27Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092
28Newborn Screening for AdrenoleukodystrophyRecruitingNCT02952482
29Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)RecruitingNCT02204904
30Alpers Huttenlocher Natural History StudyRecruitingNCT03034512
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 UMLS68/NDF-RT46:

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 Adrenoleukodystrophy27
2 Adrenoleukodystrophy, X-Linked24 ABCD1

Anatomical Context for Adrenoleukodystrophy

About this section

MalaCards organs/tissues related to Adrenoleukodystrophy:

36
Brain, Cortex, Adrenal gland, Adrenal cortex, Skin, Kidney, Spinal cord

Publications for Adrenoleukodystrophy

About this section

Articles related to Adrenoleukodystrophy:

(show top 50)    (show all 711)
idTitleAuthorsYear
1
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. (28456143)
2017
2
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. (28375456)
2017
3
Activation of Cerebral X-linked Adrenoleukodystrophy After Head Trauma. (28534457)
2017
4
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss. (28319253)
2017
5
Therapeutic strategies in adrenoleukodystrophy. (28493141)
2017
6
A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy. (28200172)
2017
7
Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy. (28418523)
2017
8
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy. (28288261)
2017
9
Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome? (28418445)
2017
10
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. (28274546)
2017
11
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. (28004277)
2017
12
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. (28481932)
2017
13
A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS. (27331004)
2016
14
Metformin-induced mitochondrial function and ABCD2 up regulation in X-linked adrenoleukodystrophy involves AMP activated protein kinase. (26849413)
2016
15
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. (26836218)
2016
16
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. (27440509)
2016
17
Middle cerebellar peduncle sign in adrenoleukodystrophy. (27147183)
2016
18
An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree. (27489563)
2016
19
Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases. (26893370)
2016
20
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease. (27248780)
2016
21
Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy. (26684655)
2016
22
Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy. (27934597)
2016
23
Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. (27312864)
2016
24
25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome. (27779191)
2016
25
Venture Philanthropy and Gene Therapy: Lessons from Adrenoleukodystrophy. (26784642)
2016
26
X-linked adrenoleukodystrophy presenting with positional downbeat nystagmus. (27272035)
2016
27
A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease. (28197008)
2016
28
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. (27337030)
2016
29
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. (27991992)
2016
30
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family. (27057190)
2016
31
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. (27124591)
2016
32
Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation. (27079370)
2016
33
Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. (27114847)
2016
34
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. (26862418)
2016
35
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. (27425035)
2016
36
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. (26843114)
2016
37
A Hierarchical Bayesian Approach for Combining Pharmacokinetic/Pharmacodynamic Modeling and Phase IIa Trial Design in Orphan Drugs: Treating Adrenoleukodystrophy with Lorenzo's Oil. (27547896)
2016
38
Synthetic cannabinoids revealing adrenoleukodystrophy. (26601810)
2016
39
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy. (27241966)
2016
40
The ABCD's of 5'-adenosine monophosphate-activated protein kinase and adrenoleukodystrophy. (26990533)
2016
41
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines. (25724074)
2015
42
X-linked Adrenoleukodystrophy, The Tunisian Experience. (26642716)
2015
43
The Role of MR Imaging in the Assessment of Clinical Outcomes in Children with X-Linked Adrenoleukodystrophy after Allogeneic Haematopoietic Stem Cell Transplantation. (25908949)
2015
44
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy. (25763509)
2015
45
Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes. (25920484)
2015
46
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. (25488625)
2015
47
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. (26454440)
2015
48
MRI in X-linked adrenoleukodystrophy. (25583825)
2015
49
Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy. (26169524)
2015
50
A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy. (25967231)
2015

Variations for Adrenoleukodystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

70 (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, -2SNVPathogenic
4ABCD1ABCD1, IVS8AS, G-A, -10, 8-BP INSinsertionPathogenic
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, +1SNVPathogenic
18ABCD1ABCD1, 2-BP DEL, 2177TAdeletionPathogenic
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, +1SNVPathogenic
24ABCD1ABCD1, IVS1DS, G-A, -1SNVPathogenic
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)SNVPathogenicrs201568579GRCh38Chr X, 153740600: 153740600
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)SNVPathogenicrs1057516052GRCh37Chr 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:004319010.7ABCB6, ABCD4
2peroxisomal matrixGO:00057829.8ABCD3, ACOX1, CAT, EHHADH
3integral component of peroxisomal membraneGO:00057799.3ABCD1, PEX10, PEX26, SLC27A2
4mitochondrionGO:00057398.0ABCB6, ABCD1, ABCD3, ACOX1, BCAP31, CAT
5cytosolGO:00058297.6ABCB6, ABCD1, ABCD2, ABCD3, BCAP31, CAT
6peroxisomal membraneGO:00057786.1ABCD1, ABCD2, ABCD3, ABCD4, ACOX1, CAT
7membraneGO:00160205.6ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, ACOX1
8peroxisomeGO:00057775.2ABCD1, ABCD2, ABCD3, ABCD4, ACOX1, CAT

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1alpha-linolenic acid metabolic processGO:003610910.8ABCD1, ACOX1
2peroxisomal long-chain fatty acid importGO:001591010.7ABCD1, ABCD3
3fatty acid beta-oxidation using acyl-CoA oxidaseGO:003354010.4ABCD1, ACOX1, EHHADH
4fatty acid metabolic processGO:000663110.4ACOX1, EHHADH, SLC27A2
5protein targeting to peroxisomeGO:000662510.3PEX1, PEX19
6very long-chain fatty acid metabolic processGO:000003810.0ABCD2, ACOX1
7very long-chain fatty acid catabolic processGO:00427609.7ABCD1, ABCD2, ABCD3, SLC27A2
8protein import into peroxisome membraneGO:00450469.6PEX19, PEX26, PEX5
9transmembrane transportGO:00550859.3ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, PEX19
10fatty acid beta-oxidationGO:00066359.1ABCD1, ABCD2, ABCD3, ACOX1, EHHADH, PEX5
11protein import into peroxisome matrixGO:00165588.8PEX1, PEX10, PEX26, PEX5
12peroxisome organizationGO:00070318.4ABCD1, ABCD3, PEX1, PEX10, PEX19, PEX5
13transportGO:00068107.5ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, BCAP31

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1long-chain fatty acid transporter activityGO:000532410.4ABCD1, ABCD2, ABCD3
2protein N-terminus bindingGO:00474859.8ACOX1, PEX19, PEX5
3ATPase activityGO:00168879.8ABCB6, ABCD1, ABCD2, ABCD3, ABCD4
4ATPase activity, coupled to transmembrane movement of substancesGO:00426269.8ABCB6, ABCD1, ABCD2, ABCD3, ABCD4
5enzyme bindingGO:00198999.3ABCD1, CAT, EHHADH, PEX5, SLC27A2
6receptor bindingGO:00051029.2ACOX1, CAT, EHHADH, SLC27A2
7ATP bindingGO:00055249.1ABCB6, ABCD1, ABCD2, ABCD3, ABCD4, PEX1

Sources for Adrenoleukodystrophy

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