MCID: LKN019
MIFTS: 38

Leukoencephalopathy, Diffuse Hereditary, with Spheroids malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Aliases & Descriptions for Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

Name: Leukoencephalopathy, Diffuse Hereditary, with Spheroids 50 46 68
Hereditary Diffuse Leukoencephalopathy with Spheroids 46 52 25 66
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 46 52 68
Hdls 46 52 68
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 46 52
Familial Progressive Subcortical Gliosis 52 68
Pigmentary Orthochromatic Leukodystrophy 46 52
Subcortical Gliosis of Neumann 52 68
Pold 46 52
Gpsc 52 68
 
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 52
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 46
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 46
Gliosis, Familial Progressive Subcortical 12
Familial Dementia, Neumann Type 52
Familial Dementia Neumann Type 68
Neuroaxonal Leukodystrophy 46
Gliosis 37
Fpsg 52
Alsp 52

Characteristics:

Orphanet epidemiological data:

52
hereditary diffuse leukoencephalopathy with spheroids:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

62
leukoencephalopathy, diffuse hereditary, with spheroids:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, rapidly progressive


Classifications:



External Ids:

OMIM50 221820
Orphanet52 ORPHA313808
ICD10 via Orphanet29 E75.2

Summaries for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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NIH Rare Diseases:46 Hereditary diffuse leukoencephalopathy with spheroids (hdls) is a neurological condition characterized by changes to certain areas of the brain. a hallmark of hdls is leukoencephalopathy, which is damage to a type of brain tissue called white matter. another common finding is axon damage due to swellings called spheroids. damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. hdls is caused by mutations in the csf1r gene. it is inherited in an autosomal dominant pattern. last updated: 3/27/2013

MalaCards based summary: Leukoencephalopathy, Diffuse Hereditary, with Spheroids, also known as hereditary diffuse leukoencephalopathy with spheroids, is related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia and csf1r-related hereditary diffuse leukoencephalopathy with spheroids, and has symptoms including muscle rigidity, muscle spasticity and bradykinesia. An important gene associated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids is CSF1R (Colony Stimulating Factor 1 Receptor). Affiliated tissues include brain, parietal lobe and retina.

OMIM:50 Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive... (221820) more...

UniProtKB/Swiss-Prot:68 Leukoencephalopathy, diffuse hereditary, with spheroids: An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes.

Related Diseases for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Diseases in the Leukoencephalopathy, Diffuse Hereditary, with Spheroids family:

Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

Diseases related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1adult-onset leukoencephalopathy with axonal spheroids and pigmented glia12.9
2csf1r-related hereditary diffuse leukoencephalopathy with spheroids12.5
3hypoalphalipoproteinemia11.9
4tangier disease11.8
5hyperalphalipoproteinemia10.6
6hepatitis10.5
7atherosclerosis10.5
8heart disease10.5
9hepatic lipase deficiency10.5
10endotheliitis10.4
11coronary artery disease10.4
12artery disease10.4
13nasu-hakola disease10.3
14obesity10.3
15hypertriglyceridemia10.2
16neuronitis10.2
17myocardial infarction10.2
18ischemic heart disease10.1
19primary progressive multiple sclerosis10.0
20spastic hemiplegia10.0
21hemiplegia10.0
22spasticity10.0
23huntington disease-like syndrome10.0
24hypobetalipoproteinemia, familial, 29.9
25analbuminemia9.9
26apolipoprotein c-iii deficiency9.9
27norum disease9.9
28hyperlipidemia type 39.9
29acute myocardial infarction9.9
30prostatitis9.9
31prostate cancer9.8
32angina pectoris9.8
33aortic atherosclerosis9.8
34hyperglycemia9.8
35uremia9.8
36kidney disease9.8
37hypobetalipoproteinemia9.8
38fish-eye disease9.8
39hyperchylomicronemia, late-onset9.8
40metabolic syndrome x9.8
41alcohol dependence9.7
42abetalipoproteinemia9.7
43niemann-pick disease, type b9.7
44pick disease9.7
45alagille syndrome9.7
46niemann-pick disease9.7
47atrial fibrillation9.7
48glucose intolerance9.7
49dementia9.7
50vascular disease9.7

Graphical network of the top 20 diseases related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:



Diseases related to leukoencephalopathy, diffuse hereditary, with spheroids

Symptoms for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

HPO human phenotypes related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

(show all 16)
id Description Frequency HPO Source Accession
1 depression HP:0000716
2 frontal lobe dementia HP:0000727
3 spasticity HP:0001257
4 hyperreflexia HP:0001347
5 rigidity HP:0002063
6 bradykinesia HP:0002067
7 gliosis HP:0002171
8 postural instability HP:0002172
9 apraxia HP:0002186
10 mutism HP:0002300
11 leukoencephalopathy HP:0002352
12 memory impairment HP:0002354
13 shuffling gait HP:0002362
14 abnormality of the cerebral white matter HP:0002500
15 neuronal loss in central nervous system HP:0002529
16 cns demyelination HP:0007305

UMLS symptoms related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:


muscle rigidity, muscle spasticity, bradykinesia, memory loss

Drugs & Therapeutics for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Drugs for Leukoencephalopathy, Diffuse Hereditary, with Spheroids (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RanibizumabPhase 3469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
2
BevacizumabPhase 31938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
3
CurcuminPhase 2131458-37-7969516
Synonyms:
1,7-Bis(4-hydroxy-3-methoxyphenyl)-1,6-heptadiene-3,5-dione
1,7-Bis(4-hydroxy-3-methoxyphenyl)hepta-1,6-diene-3,5-dione
1,9-Bis(4-hydroxy-3-methoxyphenyl)-2,7-nonadiene-4,6-dione
C.I. Natural Yellow 3
CI Natural Yellow 3
Cucurmin
Curcuma
Curcumin
Curcumin I
Diferaloylmethane
Diferuloylmethane
Gelbwurz
Golden seal
Haidr
Halad
Haldar
Halud
Hydrastis
 
Indian saffron
Indian turmeric
Kacha haldi
Kurkumin [czech]
Merita earth
Natural yellow 3
Orange root
Safran D'inde
Souchet
Terra merita
Tumeric yellow
Turmeric
Turmeric (>98% curcurmin)
Turmeric oleoresin (79%-85% curcumin)
Turmeric yellow
Yellow ginger
Yellow puccoon
Yellow root
Yo-kin
Zlut prirodni 3 [Czech]
4
CyclophosphamidePhase 1275650-18-0, 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
IsocarboxazidPhase 0259-63-23759
Synonyms:
1-Benzyl-2-(5-methyl-3-isoxazolyl-carbonyl)hydrazine
1-Benzyl-2-(5-methyl-3-isoxazolylcarbonyl)hydrazine
3-Isoxazolecarboxylic acid, 5-methyl-, 2-(phenylmethyl)hydrazide
3-Isoxazolecarboxylic acid, 5-methyl-, 2-benzylhydrazide
4-27-00-03999 (Beilstein Handbook Reference)
5-Methyl-3-isoxazolecarboxylic acid 2-benzylhydrazide
5-methyl-N'-(phenylmethyl)isoxazole-3-carbohydrazide
59-63-2
AB00513923
AC1L1GNE
BMIH
BPBio1_001024
BRD-K93332168-001-03-2
BRN 0201295
BSPBio_000930
Benazide
CAS-59-63-2
CCRIS 9178
CHEMBL1201168
CID3759
D007520
D02580
DB01247
EINECS 200-438-4
Enerzer
HMS1570O12
Isocarbonazid
Isocarbossazide
Isocarbossazide [DCIT]
Isocarbossazide [Dcit]
Isocarboxazid (INN)
Isocarboxazid [INN:BAN]
 
Isocarboxazida
Isocarboxazida [INN-Spanish]
Isocarboxazide
Isocarboxazide [INN-French]
Isocarboxazidum
Isocarboxazidum [INN-Latin]
Isocarboxyzid
LS-86607
MLS002154005
MLS003106729
Maraplan
Marplan
Marplan (TN)
Marplon
MolPort-003-848-234
N'-Benzyl N-methyl-5-isoxazolecarboxylhydrazide-3
N'-benzyl-5-methyl-1,2-oxazole-3-carbohydrazide
NCGC00016267-01
NCGC00016267-02
NSC 169893
NSC169893
Prestwick0_000795
Prestwick1_000795
Prestwick2_000795
Prestwick3_000795
Ro 5-0831
Ro 5-0831/1
SMR001233334
SPBio_002869
UNII-34237V843T
WLN: T5NOJ C1 EVMM1R
ZINC00001587
isocarboxazid
6
imidazolePhase 032288-32-4795
Synonyms:
1,3-Diaza-2,4-cyclopentadiene
1,3-Diazole
1H-Imidazole
Glyoxalin
Glyoxaline
 
IMD
Imidazol
Iminazole
Imutex
Miazole
Pyrro(b)monazole
{Pyrro[b]monazole}
7
IdazoxanPhase 0379944-56-254459
Synonyms:
(+-)-2-(1,4-Benzodioxan-2-yl)-2-imidazoline
2-(2,3-Dihydro-1,4-benzodioxin-2-yl)-4,5-dihydro-1H-imidazole
2-(2,3-dihydro-1,4-benzodioxin-3-yl)-4,5-dihydro-1H-imidazole
4,5-dihydro-2-(2,3-dihydro-1,4-benzodioxin-2-yl)-1H-imidazole
79944-58-4
AB00514632
AC1L1H1U
BPBio1_000916
BRD-A18696154-003-03-6
BSPBio_000832
C10968
CHEBI:5862
CHEMBL10316
CID54459
HMS2089E14
I14-6697
IDAZOXAN
Idazoxan [BAN:INN]
Idazoxane
 
Idazoxane [French]
Idazoxano
Idazoxano [Spanish]
Idazoxanum
Idazoxanum [Latin]
L000808
LS-78447
Lopac0_000652
NCGC00015560-08
NCGC00024794-03
NCGC00024794-04
Potassium dicopper trichloride
Prestwick0_000926
Prestwick1_000926
Prestwick2_000926
Prestwick3_000926
RX-781094
SPBio_003011
ST51055467
nchembio705-12
8
EthanolPhase 0197164-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
9
CocainePhase 047250-36-25760, 446220
Synonyms:
(-)-Cocaine
(-)-Cocaine base
(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate
(1R,2R,3S,5S)-2-Methoxycarbonyltropan-3-yl benzoate
(R)-Cocaine
(−)-cocaine
1-Cocaine
1i7z
1q72
2-Methyl-3beta-hydroxy-1alphah,5alphah-tropane-2beta-carboxylate benzoate (ester)
2-beta-Carbomethoxy-3-beta-benzoxytropane
2-beta-Tropanecarboxylic acid, 3-beta-hydroxy-, methyl ester, benzoate (ester)
2beta-Carbomethoxy-3beta-benzoxytropane
3-Tropanylbenzoate-2-carboxylic acid methyl ester
3beta-Hydroxy-2beta-tropanecarboxylic acid methyl ester benzoate (ester)
50-36-2
53-21-4 (hydrochloride)
610089_ALDRICH
610089_FLUKA
AC-16037
AC-20208
AC1L1EK2
AC1L1L2T
AC1L3U2D
AC1L9JBL
Allococaine
Allopseudococaine
Badrock
Bazooka
Benzoylethylecgonine
Benzoylmethylecgonine
Bernice
Bernice [Street Name]
Bernies
Beta-Cocain
Blast
Blizzard
Blow
Blow [Street Name]
Bouncing Powder
Bump
Burese
C" Carrie
C01416
C8912_SIGMA
CHEBI:27958
CID11779748
CID2826
CID446220
CID5760
COC
CPD-9776
Cabello
Candy
Carrie
Caviar
Cecil
Cecil [Street Name]
Charlie
Chicken Scratch
Cholly
Coca
Cocain
Cocaina
Cocaine
Cocaine (TN)
Cocaine (USP)
Cocaine Free Base
Cocaine [BAN]
Cocaine free base
Cocaine solution
Cocaine-M
Cocainum
Cocktail
Coke
Cola
Corine
Crack
Crack cocaine
D-pseudococaine
D00110
DB00907
DEA No. 9041
Dama Blanca
Dama blanca
Delcaine
Depsococaine
Dextrocaine
DivK1c_000975
Dust
EINECS 200-032-7
Ecgonine methyl ester benzoate
Ecgonine methyl ester benzoate solution
Ecgonine, methyl ester, benzoate (ester)
 
Eritroxilina
Erytroxylin
Flake
Flake [Street Name]
Flex
Florida Snow
Foo Foo
Freeze
G-Rock
Girl
Girl [Street Name]
Gold Dust
Gold dust
Gold dust [Street Name]
Goofball
Green Gold
Green gold
HSDB 6469
Happy Dust
Happy Powder
Happy Trails
Happy dust
Happy dust [Street Name]
Happy powder
Happy trails
Heaven
Hell
IDI1_000975
Isocaine
Isococain
Isococaine
Jam
KBio1_000975
Kibbles N' Bits
Kibbles n' Bits
Kokain
Kokan
Kokayeen
L-Cocain
L-Cocaine
L000836
LS-157759
Lady
Lady [Street Name]
Leaf
MLS002320697
Methyl 3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate
Methyl 3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)
Methyl Benzoylecgonine
Methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate
Methyl benzoylecgonine
MolPort-002-535-520
MolPort-003-937-722
Moonrocks
NCGC00159467-02
NINDS_000975
Neurocaine
Nose candy
Pimp's Drug
Pimp's drug
Prime Time
Pseudoallococaine
Pseudococaine
Rock
Rock [Street Name]
SMR001338843
STOCK1N-68258
Sleighride
Snort
Snow
Snow (birds)
Star Dust
Star dust
Star-Spangled Powder
Star-spangled powder
Sugar
Sweet Stuff
Toke
Toot
Toot [Street Name]
Trails
UNII-I5Y540LHVR
White girl or lady
Yeyo
Zip
[1R-(Exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester
beta-Cocain
cocaine
cocainum
d-Pseudococaine
l-Cocain
methyl (1S,4R,5R)-3-benzoyloxy-8-methyl-8-azabicyclo[3.2.1]octane-4-carboxylate
methyl (3S,4R)-3-benzoyloxy-8-methyl-8-azabicyclo[3.2.1]octane-4-carboxylate
methyl 3-benzoyloxy-8-methyl-8-azabicyclo[3.2.1]octane-4-carboxylate
nchembio.284-comp4
10
CapsaicinPhase 0163404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin
11
IndoleNutraceuticalPhase 011120-72-9798
Synonyms:
1-Azaindene
1-Benzazole
 
2,3-Benzopyrrole
Benzo[b]pyrrole
Indole
Ketole

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bevacizumab Versus Ranibizumab for Diabetic RetinopathyCompletedNCT00545870Phase 3
2Curcumin in Patients With Mild to Moderate Alzheimer's DiseaseCompletedNCT00099710Phase 2
3Effects of an Anti-Inflammatory Drug in Alzheimer's DiseaseCompletedNCT00013650Phase 1
4Observational Study - ILM PeelingCompletedNCT01083056
5I2PETHV - Imidazoline2 Binding Site in Healthy VolunteersCompletedNCT02323217Phase 0
67T MRS in Parkinson's DiseaseRecruitingNCT01237210
7I2PETPG - Imidazoline2 Binding Sites in a Group of Participants Diagnosed With ADRecruitingNCT02874820Phase 0
8Respiratory Strength Training in Persons With Amyotrophic Lateral Sclerosis (ALS)RecruitingNCT02710110Phase 0
9Photographic Imaging of the Retina and Optic Nerve Head of Glaucoma Patients and Normal ControlsActive, not recruitingNCT00430274

Search NIH Clinical Center for Leukoencephalopathy, Diffuse Hereditary, with Spheroids


Cochrane evidence based reviews: gliosis

Genetic Tests for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Genetic tests related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

id Genetic test Affiliating Genes
1 Hereditary Diffuse Leukoencephalopathy with Spheroids25

Anatomical Context for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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MalaCards organs/tissues related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

34
Brain, Parietal lobe, Retina

Animal Models for Leukoencephalopathy, Diffuse Hereditary, with Spheroids or affiliated genes

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Publications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

68 (show all 14)
id Symbol AA change Variation ID SNP ID
1CSF1Rp.Gly589GluVAR_067397rs281860268
2CSF1Rp.Glu633LysVAR_067398rs281860269
3CSF1Rp.Met766ThrVAR_067401rs281860270
4CSF1Rp.Ala770ProVAR_067402rs281860271
5CSF1Rp.Ile775AsnVAR_067404rs281860273
6CSF1Rp.Ile794ThrVAR_067405rs281860274
7CSF1Rp.Asp837TyrVAR_067406rs387906662
8CSF1Rp.Phe849SerVAR_067407rs281860277
9CSF1Rp.Leu868ProVAR_067409rs281860278
10CSF1Rp.Met875ThrVAR_067410rs281860279
11CSF1Rp.Pro878ThrVAR_067411rs281860280
12CSF1Rp.Cys653ArgVAR_072081rs690016559
13CSF1Rp.Ile843PheVAR_072082rs690016558
14CSF1Rp.Ile906ThrVAR_072083rs690016560

Clinvar genetic disease variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1CSF1RNM_005211.3(CSF1R): c.2060dupT (p.Ser688Glufs)duplicationPathogenicrs587777245GRCh38Chr 5, 150059772: 150059772
2CSF1RNM_005211.3(CSF1R): c.2442+1G> Tsingle nucleotide variantPathogenicrs587777246GRCh38Chr 5, 150056218: 150056218
3CSF1RNM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu)single nucleotide variantPathogenicrs587777247GRCh38Chr 5, 150056319: 150056319
4CSF1RNM_005211.3(CSF1R): c.1699delA (p.Thr567Argfs)deletionPathogenicrs690016546GRCh38Chr 5, 150061777: 150061777
5CSF1RNM_005211.3(CSF1R): c.1889T> G (p.Leu630Arg)single nucleotide variantPathogenicrs690016547GRCh38Chr 5, 150060942: 150060942
6CSF1RNM_005211.3(CSF1R): c.2330G> A (p.Arg777Gln)single nucleotide variantPathogenicrs690016548GRCh38Chr 5, 150056331: 150056331
7CSF1RNM_005211.3(CSF1R): c.2450T> C (p.Leu817Pro)single nucleotide variantPathogenicrs690016549GRCh37Chr 5, 149435693: 149435693
8CSF1RNM_005211.3(CSF1R): c.2480T> C (p.Ile827Thr)single nucleotide variantPathogenicrs690016550GRCh38Chr 5, 150056100: 150056100
9CSF1RNM_005211.3(CSF1R): c.2541G> C (p.Glu847Asp)single nucleotide variantPathogenicrs690016551GRCh38Chr 5, 150056039: 150056039
10CSF1RNM_005211.3(CSF1R): c.2566T> C (p.Tyr856His)single nucleotide variantPathogenicrs690016552GRCh38Chr 5, 150055325: 150055325
11CSF1RNM_005211.3(CSF1R): c.2701C> T (p.Pro901Ser)single nucleotide variantPathogenicrs690016553GRCh38Chr 5, 150054384: 150054384
12CSF1RNM_005211.3(CSF1R): c.2655-2A> Gsingle nucleotide variantPathogenicrs690016554GRCh38Chr 5, 150054432: 150054432
13CSF1RNM_005211.3(CSF1R): c.2342C> T (p.Ala781Val)single nucleotide variantPathogenicrs587777247GRCh38Chr 5, 150056319: 150056319
14CSF1RNM_005211.3(CSF1R): c.2528T> A (p.Ile843Asn)single nucleotide variantPathogenicrs690016555GRCh38Chr 5, 150056052: 150056052
15CSF1RNM_005211.3(CSF1R): c.2629C> T (p.Gln877Ter)single nucleotide variantPathogenicrs690016556GRCh38Chr 5, 150055262: 150055262
16CSF1RNM_005211.3(CSF1R): c.2512G> C (p.Val838Leu)single nucleotide variantPathogenicrs690016557GRCh38Chr 5, 150056068: 150056068
17CSF1RNM_005211.3(CSF1R): c.2527A> T (p.Ile843Phe)single nucleotide variantPathogenicrs690016558GRCh38Chr 5, 150056053: 150056053
18CSF1RNM_005211.3(CSF1R): c.1957T> C (p.Cys653Arg)single nucleotide variantPathogenicrs690016559GRCh38Chr 5, 150060874: 150060874
19CSF1RNM_005211.3(CSF1R): c.2717T> C (p.Ile906Thr)single nucleotide variantPathogenicrs690016560GRCh38Chr 5, 150054368: 150054368
20CSF1RNM_005211.3(CSF1R): c.2378A> C (p.Lys793Thr)single nucleotide variantPathogenicrs690016561GRCh38Chr 5, 150056283: 150056283
21CSF1RNM_005211.3: c.2467C> Tsingle nucleotide variantPathogenicrs690016562GRCh38Chr 5, 150056112: 150056112
22CSF1RNM_005211.3(CSF1R): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs690016563GRCh38Chr 5, 150061731: 150061731
23CSF1RNM_005211.3(CSF1R): c.2350G> A (p.Val784Met)single nucleotide variantPathogenicrs690016564GRCh38Chr 5, 150056311: 150056311
24CSF1RNM_005211.3(CSF1R): c.2562T> A (p.Asn854Lys)single nucleotide variantPathogenicrs690016565GRCh38Chr 5, 150055329: 150055329
25CSF1RNM_005211.3(CSF1R): c.2294G> A (p.Gly765Asp)single nucleotide variantPathogenicrs690016566GRCh38Chr 5, 150057312: 150057312
26CSF1RNM_005211.3(CSF1R): c.2624T> C (p.Met875Thr)single nucleotide variantPathogenicrs281860279GRCh37Chr 5, 149434830: 149434830
27CSF1RNM_005211.3(CSF1R): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs281860269GRCh37Chr 5, 149440497: 149440497
28CSF1RNM_005211.3(CSF1R): c.1754-2A> Gsingle nucleotide variantPathogenicrs281860267GRCh37Chr 5, 149441160: 149441160
29CSF1RNM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr)single nucleotide variantPathogenicrs281860274GRCh37Chr 5, 149435843: 149435843
30CSF1RNM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr)single nucleotide variantPathogenicrs387906662GRCh37Chr 5, 149435634: 149435634
31CSF1RNM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu)single nucleotide variantPathogenicrs281860268GRCh37Chr 5, 149441146: 149441146
32CSF1RNM_005211.3(CSF1R): c.2297T> C (p.Met766Thr)single nucleotide variantPathogenicrs281860270GRCh37Chr 5, 149436872: 149436872
33CSF1RNM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro)single nucleotide variantPathogenicrs281860271GRCh37Chr 5, 149436861: 149436861
34CSF1RNM_005211.3(CSF1R): c.2320-2A> Gsingle nucleotide variantPathogenicrs281860272GRCh37Chr 5, 149435906: 149435906
35CSF1RNM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn)single nucleotide variantPathogenicrs281860273GRCh37Chr 5, 149435900: 149435900
36CSF1RNM_005211.3(CSF1R): c.2345G> A (p.Arg782His)single nucleotide variantPathogenicrs281860281GRCh37Chr 5, 149435879: 149435879
37CSF1RNM_005211.3(CSF1R): c.2442+5G> Csingle nucleotide variantPathogenicrs281860275GRCh37Chr 5, 149435777: 149435777
38CSF1RNM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser)single nucleotide variantPathogenicrs281860277GRCh37Chr 5, 149435597: 149435597
39CSF1RNM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del)deletionPathogenicrs281860276GRCh37Chr 5, 149435595: 149435597
40CSF1RNM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro)single nucleotide variantPathogenicrs281860278GRCh37Chr 5, 149434851: 149434851
41CSF1RNM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr)single nucleotide variantPathogenicrs281860280GRCh37Chr 5, 149434822: 149434822
42CSF1RNM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr)single nucleotide variantPathogenicrs397515555GRCh37Chr 5, 149440436: 149440436
43CSF1RNM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp)single nucleotide variantPathogenicrs397515556GRCh37Chr 5, 149435895: 149435895
44CSF1RNM_005211.3(CSF1R): c.2483T> C (p.Phe828Ser)single nucleotide variantPathogenicrs397515557GRCh37Chr 5, 149435660: 149435660

Expression for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Search GEO for disease gene expression data for Leukoencephalopathy, Diffuse Hereditary, with Spheroids.

Pathways for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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GO Terms for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Sources for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet