MCID: ATN007
MIFTS: 32

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Muscle diseases categories

Aliases & Classifications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Aliases & Descriptions for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

Name: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 49 11 22 23 65
Nakajo-Nishimura Syndrome 23 51 67
Nakajo Syndrome 23 65 67
Candle Syndrome 45 22 51
Nkjo 22 23 67
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature 45 22
Secondary Hypertrophic Osteoperiostosis with Pernio 51 67
Nakajo Nishimura Syndrome 45 22
Jmp Syndrome 22 67
Aldd 22 23
 
Nns 51 67
Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy 22
Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy 67
Chronic Atypical Neutrophilic Dermatosis-Lipodystrophy-Elevated Temperature Syndrome 51
Japanese Autoinflammatory Syndrome with Lipodystrophy 23
Amyotrophy-Fat Tissue Anomaly Syndrome 51
Nodular Erythema with Digital Changes 67
Amyotrophy Fat Tissue Anomaly 45
Jasl 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
nakajo-nishimura syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult
candle syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 256040
Orphanet51 2615, 325004
ICD10 via Orphanet28 L98.8

Summaries for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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OMIM:49 This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular... (256040) more...

MalaCards based summary: Autoinflammation, Lipodystrophy, and Dermatosis Syndrome, also known as nakajo-nishimura syndrome, is related to lipodystrophy and nakajo syndrome, and has symptoms including skin rash, limitation of joint mobility and splenomegaly. An important gene associated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome is PSMB8 (Proteasome Subunit Beta 8). Affiliated tissues include neutrophil, skin and heart.

Genetics Home Reference:23 Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).

UniProtKB/Swiss-Prot:67 Nakajo syndrome: An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia.

Related Diseases for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy10.9
2nakajo syndrome10.5
3jmp syndrome10.5
4liver disease10.1
5proteasome disability syndrome10.1
6mitochondrial dna depletion syndrome 610.1
7tay-sachs disease10.1
8hepatitis10.1
9polydactyly10.1
10noma10.1
11placenta disease10.1
12mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.1
13teratoma10.1

Graphical network of diseases related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:



Diseases related to autoinflammation, lipodystrophy, and dermatosis syndrome

Symptoms for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Symptoms by clinical synopsis from OMIM:

256040

Clinical features from OMIM:

256040

Symptoms:

 51 (show all 35)
  • face/facial anomalies
  • arthrogryposis
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • lipoatrophy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hyperostosis
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • abnormal fat distribution/lipodystrophy
  • fever/chilling
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • thick/dowel fingers
  • terminal broadening/clubbing of toes
  • hyperhidrosis/increased sweating
  • lymphadenopathy/polyadenopathies
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hypergammaglobulinemia
  • long/large/bulbous nose
  • thick lips
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • long/large ear
  • long hand/arachnodactyly
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiomegaly
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • heart/cardiac failure
  • pyramidal syndrome
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcytic anemia

HPO human phenotypes related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

(show all 65)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 limitation of joint mobility hallmark (90%) HP:0001376
3 splenomegaly hallmark (90%) HP:0001744
4 hepatomegaly hallmark (90%) HP:0002240
5 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
6 arthralgia hallmark (90%) HP:0002829
7 abnormality of temperature regulation hallmark (90%) HP:0004370
8 lipoatrophy hallmark (90%) HP:0100578
9 hyperostosis hallmark (90%) HP:0100774
10 hyperhidrosis typical (50%) HP:0000975
11 muscle weakness typical (50%) HP:0001324
12 lymphadenopathy typical (50%) HP:0002716
13 skeletal muscle atrophy typical (50%) HP:0003202
14 increased antibody level in blood typical (50%) HP:0010702
15 clubbing of toes typical (50%) HP:0100760
16 abnormality of the tongue occasional (7.5%) HP:0000157
17 thick lower lip vermilion occasional (7.5%) HP:0000179
18 macrotia occasional (7.5%) HP:0000400
19 arachnodactyly occasional (7.5%) HP:0001166
20 congestive heart failure occasional (7.5%) HP:0001635
21 cardiomegaly occasional (7.5%) HP:0001640
22 microcytic anemia occasional (7.5%) HP:0001935
23 respiratory insufficiency occasional (7.5%) HP:0002093
24 abnormal nasal morphology occasional (7.5%) HP:0005105
25 abnormal pyramidal signs occasional (7.5%) HP:0007256
26 arrhythmia occasional (7.5%) HP:0011675
27 cognitive impairment occasional (7.5%) HP:0100543
28 seizures rare (5%) HP:0001250
29 short stature rare (5%) HP:0004322
30 arrhythmia rare (5%) HP:0011675
31 autosomal recessive inheritance HP:0000007
32 macroglossia HP:0000158
33 thick lower lip vermilion HP:0000179
34 macrotia HP:0000400
35 prominent nose HP:0000448
36 conjunctivitis HP:0000509
37 osteopenia HP:0000938
38 hyperpigmentation of the skin HP:0000953
39 large eyes HP:0001090
40 intellectual disability, mild HP:0001256
41 muscle weakness HP:0001324
42 failure to thrive HP:0001508
43 congestive heart failure HP:0001635
44 cardiomegaly HP:0001640
45 splenomegaly HP:0001744
46 microcytic anemia HP:0001935
47 basal ganglia calcification HP:0002135
48 hypertriglyceridemia HP:0002155
49 hepatomegaly HP:0002240
50 bone pain HP:0002653
51 arthralgia HP:0002829
52 elevated hepatic transaminases HP:0002910
53 elbow flexion contracture HP:0002987
54 skeletal muscle atrophy HP:0003202
55 elevated erythrocyte sedimentation rate HP:0003565
56 flexion contracture of toe HP:0005830
57 adipose tissue loss HP:0008887
58 lipodystrophy HP:0009125
59 increased antibody level in blood HP:0010702
60 erythema HP:0010783
61 panniculitis HP:0012490
62 camptodactyly of finger HP:0100490
63 episcleritis HP:0100534
64 clubbing of fingers HP:0100759
65 long fingers HP:0100807

Drugs & Therapeutics for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Drugs for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epoetin alfaapprovedPhase 4612113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
2
Cholecalciferolapproved, nutraceuticalPhase 475567-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
 
Colecalciferol
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
3vitamin dPhase 41463
4CalciferolNutraceuticalPhase 41028
5
InfliximabapprovedPhase 3327170277-31-3
Synonyms:
Ig gamma-1 chain C region
 
Inflectra
Remicade
Remsima
6
Candesartanapproved144139481-59-72541
Synonyms:
139481-59-7
2-(ethyloxy)-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid
2-Ethoxy-1-(P-(O-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylic acid
2-Ethoxy-1-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylic acid
2-Ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid
2-Ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4ethyl]}-1H-benzimidazole-7-carboxylic acid
2-Ethoxy-3-[[4-[2-(1H-tetrazol-5-yl)phenyl]phenyl] methyl]-3H-benzoimidazole-4-carboxylic acid
2-ethoxy-1-({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl)-1H-benzimidazole-7-carboxylic acid
2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid
2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4ethyl}-1H-benzimidazole-7-carboxylic acid
2-ethoxy-3-[[4-[2-(1h-tetrazol-5-yl)phenyl]phenyl]methyl]-3h-benzoimidazole-4-carboxylic acid
2-ethoxy-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]benzimidazole-4-carboxylic acid
2-ethoxy-7-carboxy-1-(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methylbenzimidazole
AC-203
AC1L1DWT
Amias
Atacand
Atacand, Blopress, Amias, Ratacand,Candesartan
BIDD:GT0350
Blopress
Blopress (TN)
C07468
C081643
C24H20N6O3
CHEBI:216848
CHEBI:3347
 
CHEMBL1016
CID2541
CV 11974
CV-11974
CV11974
Candesartan
Candesartan (USAN/INN)
Candesartan Cilexetil
Candesartan [BAN]
Candesartan [USAN:INN]
Candesartan cilexetil
D00522
DB00796
FT-0083585
HMS2089M22
HSDB 7520
I01-0374
KS-5003
L000156
LS-32740
MolPort-003-845-570
MolPort-005-943-739
NCGC00167474-01
Ratacand
S1578_Selleck
TL8000897
UNII-S8Q36MD2XX
candesartan
7
Hydrochlorothiazideapproved37558-93-53639
Synonyms:
125727-50-6
3,4-Dihydro-6-chloro-7-sulfamyl-1,2, 4-benzothi
3,4-Dihydrochlorothiazide
58-93-5
6-Chloro-7-sulfamoyl-3, 4-dihy
8049-49-8
AB00052012
AC-11072
AC1L1GDT
AC1Q55FM
AF-614/30832002
AKOS000121373
ARONIS24316
Acesistem
Acuilix
Acuretic
Aldactazide
Aldactazide 25/25
Aldazida
Aldectazide 50/50
Aldoril
Ambap58-93-5
Apo-Hydro
Apresazide
Aquarills
Aquarius
Aquazide H
Aquazide-H
BAS 00371709
BIDD:GT0153
BPBio1_000019
BRD-K13078532-001-05-2
BRN 0625101
BSPBio_000017
BSPBio_002132
Bio-0714
Bremil
Briazide
C7H8ClN3O4S2
CAS-58-93-5
CCRIS 2082
CHEMBL435
CID3639
CPD000035778
Caplaril
Capozide
Carozide
Catiazida
Chlorizide
Chlorosulthiadil
Chlorothiazide
Chlorsulfonamidodihydrobenzothiadiazine dioxide
Chlorzide
Chlothia
Cidrex
Clorana
Component of Butizide Prestabs
Concor Plus
Condiuren
D00340
D006852
DB00999
Diaqua
Dichlorosal
Dichlorotride
Dichlothiazide
Dichlotiazid
Dichlotride
Diclotride
Dicyclotride
Didral
Dihydran
Dihydrochlorothiazid
Dihydrochlorothiazide
Dihydrochlorothiazidum
Dihydrochlorurit
Dihydrochlorurite
Dihydroxychlorothiazidum
Direma
Disalunil
Disothiazid
Diu 25 Vigt
Diu-Melusin
Diu-melusin
Diuril
Diurogen
DivK1c_000289
Dixidrasi
Drenol
Dyazide
EINECS 200-403-3
EU-0100614
Esidrex
Esidrix
Esidrix (TN)
Esimil
Esoidrina
FT-0082750
Fluvin
H 4759
H1274
H2910_SIAL
H4759_SIAL
HCT
HCT-Isis
HCTZ
HCZ
HMS1568A19
HMS1920D19
HMS2091L05
HMS500O11
HMS553N04
HSDB 3096
Hidril
Hidro-Niagrin
Hidrochlortiazid
Hidroclorotiazida
Hidroclorotiazida [INN-Spanish]
Hidroronol
Hidrosaluretil
Hidrotiazida
Hyclosid
Hydrex-semi
Hydril
Hydro Par
Hydro-Aquil
Hydro-D
Hydro-Diuril
Hydro-Saluric
Hydro-T
Hydro-chlor
HydroDIURIL
Hydrochlorat
Hydrochloro Thiazide
Hydrochlorot
Hydrochlorothiazid
Hydrochlorothiazide
Hydrochlorothiazide (JP15/USP/INN)
Hydrochlorothiazide Intensol
Hydrochlorothiazide [INN:BAN:JAN]
 
Hydrochlorothiazidum
Hydrochlorothiazidum [INN-Latin]
Hydrochlorthiazide
Hydrochlorthiazidum
Hydrocot
Hydrodiuretic
Hydrodiuril
Hydropres
Hydrosaluric
Hydrothide
Hydrozide
Hydrozide Injection, Veterinary
Hypothiazid
Hypothiazide
Hytrid
Hyzaar
I09-0531
IDI1_000289
Idroclorotiazide
Idroclorotiazide [DCIT]
Idrotiazide
Inderide
Inderide 80/25
Indroclor
Ivaugan
Jen-Diril
KBio1_000289
KBio2_001357
KBio2_003925
KBio2_006493
KBio3_001352
KBioGR_000351
KBioSS_001357
LS-243
Lopac-H-4759
Lopac0_000614
Lopressor HCT
Lotensin HCT
Lotensin Hct
MLS000069619
Manuril
Maschitt
Maxzide
Maybridge Compound 10
Maybridge1_004336
Mazide 25 mg
Medozide
Megadiuril
Microzide
Microzide (TN)
Mictrin
Mikorten
Modurcen
Moduretic
MolPort-000-144-465
NCGC00015508-01
NCGC00015508-02
NCGC00015508-03
NCGC00015508-07
NCGC00015508-12
NCGC00021906-03
NCGC00021906-04
NCGC00021906-05
NCGC00021906-06
NCGC00021906-07
NCGC00021906-08
NCI-C55925
NCI60_004317
NINDS_000289
NSC 53477
NSC53477
Natrinax
Nefrix
Nefrol
Neo-Codema
Neo-Flumen
Neo-Minzil
Neo-codema
Neoflumen
Newtolide
Novodiurex
Oprea1_357174
Oretic
Pantemon
Panurin
Prestwick0_000009
Prestwick1_000009
Prestwick2_000009
Prestwick3_000009
Prestwick_263
Prinzide
Raunova Plus
Ro-Hydrazide
Ro-hydrazide
Roxane
S1708_Selleck
SAM002554901
SMR000035778
SPBio_001259
SPBio_001938
SPECTRUM1500335
STK315354
Saldiuril
Sectrazide
Selozide
Ser-Ap-Es
Servithiazid
Spectrum2_001040
Spectrum3_000456
Spectrum4_000006
Spectrum5_000824
Spectrum_000877
Spironazide
Su 5879
Tandiur
Thiaretic
Thiuretic
Thlaretic
Timolide
UNII-0J48LPH2TH
Unazid
Unipres
Urodiazin
Urozide
Vaseretic
Vetidrex
WLN: T66 BSWM EM DHJ HG ISZW
ZINC00896569
Ziac
Zide
adiazine-1,1-dioxide
component of Aldactazide
component of Aldoril
component of Caplaril
component of Cyclex
component of Dyazide
component of Esimil
diclot ride
dro-2H-1,2,4-benzothiadiazine 1,1-dioxide
hydrochlorothiazide
panurin dichloride
8
Cocaineapproved, illicit44150-36-25760, 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
9
Angiotensin II98568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
10Angiotensin II Type 1 Receptor Blockers928
11
Candesartan cilexetil144145040-37-52540
Synonyms:
(+-)-1-Hydroxyethyl 2-ethoxy-1-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylate, cyclohexyl carbonate (ester)
1-(cyclohexylocarbonyloxy)ethyl-2-ethoxy-1-(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)-1H-benzimidazole-7-carboxylate
1-cyclohexyloxycarbonyloxyethyl 2-ethoxy-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]benzimidazole-4-carboxylate
1-{[(cyclohexyloxy)carbonyl]oxy}ethyl 2-(ethyloxy)-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylate
145040-37-5
1H-Benzimidazole-7-carboxylic acid, 2-ethoxy-1-[[2'-(2H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]-, 1-[[(cyclohexyloxy)carbonyl]oxy]ethyl ester
2-Ethoxy-3-[2'-(1H-tetrazol-5-yl)-biphenyl-4-ylmethyl]-3H-benzoimidazole-4-carboxylic acid 1-cyclohexyloxycarbonyloxy-ethyl ester
2-ethoxy-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-3h-benzoimidazole-4-carboxylic acid 1-cyclohe
AC-204
AC1L1DWQ
ATACAND HCT
Almirall brand of candesartan cilexetil
Amias
Astra brand of candesartan cilexetil
AstraZeneca brand of candesartan cilexetil
Atacand
Atacand (TN)
BRD-A65671304-001-02-6
BSPBio_002691
C07709
C077793
C33H34N6O6
CHEBI:216349
CHEMBL1014
CID2540
Candesartan cilexetil
Candesartan cilexetil (JAN/USAN)
Candesartan cilexetil [USAN]
Candesartan hexetil
D00626
FT-0082579
H212/91
 
HMS1922J09
HMS2093E20
I06-0090
KBio2_002187
KBio2_004755
KBio2_007323
KBio3_001911
KBioGR_001607
KBioSS_002187
Kenzen
L006257
LS-32741
MolPort-003-666-552
NCGC00095123-01
NCGC00095123-02
NCGC00095123-03
Parapres
Promed brand of candesartan cilexetil
Racanda
SPBio_000349
SPECTRUM1504261
ST51052687
Spectrum2_000485
Spectrum3_000996
Spectrum4_001124
Spectrum5_001462
Spectrum_001707
TCV 116
TCV-116
TL8000995
Takeda brand of candesartan cilexetil
UNII-R85M2X0D68
candesartan cilexitil

Interventional clinical trials:

idNameStatusNCT IDPhase
1Correcting Anemia and Native Vitamin D Supplementation in Kidney Transplant RecipientsEnrolling by invitationNCT01817699Phase 4
2Evaluation of Low Dose Infliximab in Ankylosing Spondylitis (Study P04352)CompletedNCT00202865Phase 3
3Trial of an Intratumoral Injections of INXN-3001 in Subjects With Stage III or IV MelanomaCompletedNCT00815607Phase 1
4Candesartan and Candesartan/ Hydrochlorothiazide in the Treatment of Patients With Hypertension and LVHCompletedNCT00607633
5Impact of Lung Flute Therapy on AsthmaCompletedNCT02003521
6Promoting Fetal Movement Monitoring: Improving Birth OutcomesCompletedNCT01844011
7Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)RecruitingNCT00059748
8Noctura400 Treatment for Diabetic Retinopathy (CANDLE)RecruitingNCT02207712
9Bright Light on Fatigue in Women Being Treated for Breast CancerRecruitingNCT02658708Phase 0
10Compassionate Use Protocol for the Treatment of Autoinflammatory SyndromesAvailableNCT01724580

Search NIH Clinical Center for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Genetic Tests for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Genetic tests related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

id Genetic test Affiliating Genes
1 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome22 PSMB8

Anatomical Context for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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MalaCards organs/tissues related to Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

33
Neutrophil, Skin, Heart, Tongue, Bone, Liver, Skeletal muscle

Animal Models for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome or affiliated genes

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Publications for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

67
id Symbol AA change Variation ID SNP ID
1PSMB8p.Thr75MetVAR_065291
2PSMB8p.Gly201ValVAR_066449

Clinvar genetic disease variations for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSMB8PSMB8, THR75METsingle nucleotide variantPathogenic
2PSMB8NM_004159.4(PSMB8): c.590G> T (p.Gly197Val)single nucleotide variantPathogenicrs387906680GRCh37Chr 6, 32809448: 32809448
3PSMB8PSMB8, GLY201VALsingle nucleotide variantPathogenic
4PSMB8PSMB8, CYS135TERsingle nucleotide variantPathogenic

Expression for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Search GEO for disease gene expression data for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome.

Pathways for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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GO Terms for genes affiliated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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Sources for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet