MCID: AGG002
MIFTS: 48

Aggressive Systemic Mastocytosis malady

Categories: Blood diseases, Cancer diseases, Rare diseases, Immune diseases

Aliases & Classifications for Aggressive Systemic Mastocytosis

About this section
Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 27ICD10, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Aggressive Systemic Mastocytosis:

Name: Aggressive Systemic Mastocytosis 10 12 51 65
Lymphadenopathic Mastocytosis with Eosinophilia 10
 
Asm 10

Characteristics:

Orphanet epidemiological data:

51
aggressive systemic mastocytosis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult

Classifications:



External Ids:

Disease Ontology10 DOID:4798
ICD1027 C96.2
MeSH36 D034721
NCIt42 C9285
Orphanet51 98850
ICD10 via Orphanet28 C96.2
UMLS via Orphanet66 C1112486
UMLS65 C1112486

Summaries for Aggressive Systemic Mastocytosis

About this section
MalaCards based summary: Aggressive Systemic Mastocytosis, also known as lymphadenopathic mastocytosis with eosinophilia, is related to systemic mastocytosis and mastocytosis, and has symptoms including hyperhidrosis, urticaria and hypermelanotic macule. An important gene associated with Aggressive Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways are Type II interferon signaling (IFNG) and Jak/STAT Signaling Pathway. Affiliated tissues include bone, skin and bone marrow, and related mouse phenotypes are reproductive system and cellular.

Related Diseases for Aggressive Systemic Mastocytosis

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Diseases related to Aggressive Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis10.5
2mastocytosis10.5
3hypereosinophilic syndrome, idiopathic, resistant to imatinib10.4IFNA2, KIT
4malignant fibroxanthoma10.4IFNA2, KIT
5gallbladder leiomyosarcoma10.3IFNA2, KIT
6exencephaly10.3KIT, KITLG
7multiple chemical sensitivity10.3KIT, KITLG
8megalocornea10.3KIT, KITLG
9mast cell neoplasm10.2KIT, KITLG
10olfactory nerve disease10.2KIT, KITLG
11waardenburg's syndrome10.2KIT, KITLG
12diffuse cutaneous mastocytosis10.1KIT, KITLG
13total anomalous pulmonary venous return10.1KIT, KITLG
14vesicoureteral reflux10.1KIT, KITLG
15microphthalmia, syndromic 410.0KIT, KITLG
16stromal corneal pigmentation10.0IFNA2, KIT, KITLG
17mastocytosis cutaneous with short stature conductive hearing loss and microtia10.0IFNA2, KIT, KITLG
18superior mesenteric artery syndrome10.0IFNA2, KIT, KITLG
19systemic scleroderma10.0IFNA2, KIT, KITLG
20chronic eosinophilic pneumonia10.0IFNA2, KIT, KITLG
21hepatitis10.0
22leukemia10.0
23mast-cell leukemia10.0
24thrombocythemia 310.0IFNA2, KIT, KITLG
25skin disease10.0
26skin atrophy10.0
27agammaglobulinemia 29.9IFNA2, KIT, KITLG
28pericardial tuberculosis9.9KIT, KITLG, PTPN11
29acantholytic squamous cell skin carcinoma9.9KIT, KITLG
30hematopoietic stem cell transplantation9.9KIT, KITLG, PTPN11
31glomerulonephritis9.8
32lymphoma9.8
33myeloma9.8
34protein-losing enteropathy9.8
35sarcoma9.8
36cholestasis9.8
37sclerosing cholangitis9.8
38histiocytosis9.8
39cholangitis9.8
40eosinophilia9.8
41leukemia, acute myeloid9.6KIT, KITLG, PTPN11
42myelodysplastic syndrome9.3KIT, KITLG, PTPN11
43male reproductive system disease7.3IFNA2, KIT, KITLG, PTPN11, SMPD1, TNP1

Graphical network of the top 20 diseases related to Aggressive Systemic Mastocytosis:



Diseases related to aggressive systemic mastocytosis

Symptoms for Aggressive Systemic Mastocytosis

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Symptoms:

 51 (show all 46)
  • hyperhidrosis/increased sweating
  • urticaria
  • macules
  • follicular/erythematous/edematous papules/milium
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • bone pain
  • severe allergic reaction/atopy
  • bone marrow anomalies
  • eosinophils anomalies/hypereosinophilia
  • mastocytosis
  • asthenia/fatigue/weakness
  • hot flushes/sensation of cold
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • malabsorption/chronic diarrhea/steatorrhea
  • acute diarrhea
  • cardiac rhythm disorder/arrhythmia
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypotension
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bone tumefaction/swelling
  • articular/joint pain/arthralgia
  • anaemia
  • leukopenia/hypoleukocytosis
  • mouth dryness/xerostomia
  • telangiectasiae of the skin
  • lung/pulmonary infiltrates
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • asthma/bronchospasm
  • lymphadenopathy/polyadenopathies
  • anorexia
  • osteosclerosis/osteopetrosis/bone condensation
  • mutiple fractures/bone fragility
  • bone marrow failure/pancytopenia
  • sarcoma
  • lymphoma
  • acute leukemia
  • myeloproliferative syndrome/chronic leukemia
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Aggressive Systemic Mastocytosis:

(show all 36)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 urticaria hallmark (90%) HP:0001025
3 hypermelanotic macule hallmark (90%) HP:0001034
4 splenomegaly hallmark (90%) HP:0001744
5 abnormality of eosinophils hallmark (90%) HP:0001879
6 nausea and vomiting hallmark (90%) HP:0002017
7 abdominal pain hallmark (90%) HP:0002027
8 hepatomegaly hallmark (90%) HP:0002240
9 bone pain hallmark (90%) HP:0002653
10 impaired temperature sensation hallmark (90%) HP:0010829
11 mastocytosis hallmark (90%) HP:0100495
12 behavioral abnormality typical (50%) HP:0000708
13 pruritus typical (50%) HP:0000989
14 sudden cardiac death typical (50%) HP:0001645
15 leukopenia typical (50%) HP:0001882
16 anemia typical (50%) HP:0001903
17 diarrhea typical (50%) HP:0002014
18 malabsorption typical (50%) HP:0002024
19 hypotension typical (50%) HP:0002615
20 arthralgia typical (50%) HP:0002829
21 abnormality of the gastric mucosa typical (50%) HP:0004295
22 reduced bone mineral density typical (50%) HP:0004349
23 xerostomia occasional (7.5%) HP:0000217
24 weight loss occasional (7.5%) HP:0001824
25 anorexia occasional (7.5%) HP:0002039
26 respiratory insufficiency occasional (7.5%) HP:0002093
27 asthma occasional (7.5%) HP:0002099
28 pulmonary infiltrates occasional (7.5%) HP:0002113
29 acute leukemia occasional (7.5%) HP:0002488
30 lymphoma occasional (7.5%) HP:0002665
31 lymphadenopathy occasional (7.5%) HP:0002716
32 recurrent fractures occasional (7.5%) HP:0002757
33 bone marrow hypocellularity occasional (7.5%) HP:0005528
34 increased bone mineral density occasional (7.5%) HP:0011001
35 sarcoma occasional (7.5%) HP:0100242
36 telangiectasia of the skin occasional (7.5%) HP:0100585

UMLS symptoms related to Aggressive Systemic Mastocytosis:


hepatomegaly

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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Drugs for Aggressive Systemic Mastocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1StaurosporineexperimentalPhase 22162996-74-144120114
2Immunosuppressive AgentsPhase 210422
3Angiogenesis InhibitorsPhase 2, Phase 13688
4Angiogenesis Modulating AgentsPhase 2, Phase 13611
5Immunologic FactorsPhase 218483
6Anti-Infective AgentsPhase 217220
7Anti-Bacterial AgentsPhase 29140
8Imatinib MesylatePhase 2577123596
9Protein Kinase InhibitorsPhase 23162
104'-N-benzoylstaurosporinePhase 223
11tyrosineNutraceuticalPhase 2596
12
Sunitinibapproved, investigationalPhase 1486341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib Malate
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
13
Mycophenolate mofetilapproved, investigational898128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate Mofetil
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
14
Miconazoleapproved, investigational302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
15
Fludarabineapproved105921679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
16
Mycophenolic acidapproved89824280-93-1446541
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
Mycophenolic Acid
Mycophenolsaeure
Myfortic
17
Vidarabineapproved23824356-66-932326, 21704
Synonyms:
(+)-Cyclaradine
.beta.-Adenosine
.beta.-D-Adenosine
1odi
2-(6-AMINO-purin-9-yl)-5-hydroxymethyl-tetrahydro-furan-3,4-diol
2946-52-3
2fqy
2gl0
30143-02-3
3080-29-3
3228-71-5
4005-33-8
46946-45-6
46969-16-8
524-69-6
5536-17-4
58-61-7
9-Arabinosyladenine
9-beta-D-Arabinofuranosyl-9H-purin-6-amine
9-beta-D-Arabinofuranosyl-adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-arabinofuranosyl-adenine
9-╬▓-D-arabinofuranosyl-9H-purin-6-amine
9-╬▓-D-arabinofuranosyladenine
A 9251
A0152
A4036_SIGMA
A4676_SIGMA
A5762_SIGMA
A9251_SIGMA
AC1L18OL
AC1L1U8O
AC1L2IWM
AC1L2SCM
AC1O4WIN
AC1O8PY7
AC1Q1ID3
AC1Q4Y1Z
AC1Q52XU
ADENOSINE, U.S.P.
ADN
AI3-52413
AI3-52821
AR-1H6029
ARA-A NSC 247519
Ade-Rib
Adenine Arabinoside
Adenine arabinoside
Adenine nucleoside
Adenine riboside
Adenine xyloside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine arabinose
Adenosine-8-14C
Adensoine
Ambap5536-17-4
Ara A
Ara-A
Ara-ATP
Araadenosine
Arabinoside Adenine
Arabinoside adenine
Arabinosyl Adenine
Arabinosyl adenine
Arabinosyl-adenine
Arabinosyladenine
Arasena-A
Armes
Armes (TN)
BB_NC-0565
BPBio1_000898
BRN 0624881
BSPBio_000816
BSPBio_001796
BSPBio_002000
Bio1_000437
Bio1_000926
Bio1_001415
Boniton
C00212
CAS-5536-17-4
CCRIS 2557
CCRIS 3383
CHEBI:136932
CHEBI:16335
CHEBI:45327
CHEMBL1090
CHEMBL20247
CHEMBL477
CI 673
CI-673
CID102198
CID191
CID21704
CID60961
CID6420052
CID6713976
CPD000471872
Caswell No. 010B
D000241
D00045
D06298
DB00640
DivK1c_000191
EINECS 200-389-9
EINECS 217-911-6
EINECS 226-893-9
EU-0100123
FT-0082881
HMS1570I18
HMS1920A13
HMS1921K05
HMS2090F06
HMS2091G13
HMS2092C16
HMS500J13
HSDB 6514
 
I01-1121
IDI1_000191
KBio1_000191
KBio2_002418
KBio2_004986
KBio2_007554
KBio3_001296
KBio3_001500
KBioGR_001224
KBioSS_002424
L000094
LS-15059
LS-15085
Lopac0_000123
MEDR-640
MLS000069638
MLS000699527
MLS001066352
MLS001333133
MLS001333134
MLS002153227
MLS002153992
MolPort-001-785-903
MolPort-001-838-229
MolPort-003-666-308
Myocol
NCGC00016656-01
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NCGC00094579-01
NCGC00094579-02
NCGC00094579-03
NCGC00094579-04
NCGC00178869-01
NCGC00179417-01
NCI60_003823
NCI60_037192
NCIOpen2_003303
NCIOpen2_005376
NINDS_000191
NSC 247519
NSC 404241
NSC 627048
NSC 7359
NSC 7652
NSC-404241
NSC247519
NSC404241
NSC627048
NSC70422
NSC7359
NSC7652
NSC80832
NSC87676
NSC91041
Nucleocardyl
PDSP1_001036
PDSP2_001020
Pallacor
Polyadenosine
Polyriboadenosine
Prestwick0_000768
Prestwick1_000768
Prestwick2_000768
Prestwick3_000768
Prestwick_983
RAB
S1647_Selleck
S1784_Selleck
SAM002564191
SMP1_000312
SMR000058216
SMR000225041
SMR000471872
SMR001233326
SPBio_001194
SPBio_001491
SPBio_002755
SPECTRUM1500107
SPECTRUM1500609
SR 96225
SR-96225
STK361815
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum2_001336
Spectrum3_000288
Spectrum3_000580
Spectrum4_000782
Spectrum5_001429
Spectrum_001894
Spongoadenosine
TL8003749
UNII-3XQD2MEW34
UNII-K72T3FS567
USAF CB-10
V0098
VIRDARABINE
Vidarabin
Vidarabina
Vidarabina [DCIT]
Vidarabine
Vidarabine (JAN)
Vidarabine anhydrous
Vidarabinum
Vira ATM
Vira-A
Vira-A, Vidarabine
XA
Xylosyl A
Xylosyladenine
ZINC00970363
ZINC02169830
adenine-D-ribose
adenosine
alpha-Ara A
beta-Adenosine
beta-Ara A
beta-D-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.64-comp4
nchembio706-5
18Fludarabine phosphate105930751
19Vidarabine Phosphate119
20Antimetabolites, Antineoplastic5770
21Dermatologic Agents4555
22Antibiotics, Antitubercular5971
23Antimetabolites9454
24Antifungal Agents3015
25Antirheumatic Agents8496
26Cyclosporins873
27Calcineurin Inhibitors1223
28Immunoglobulins4477
29Antibodies, Monoclonal2413
30Antibodies4477
31Antiviral Agents8071

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Thalidomide in Treating Patients With Relapsed or Progressive Systemic MastocytosisCompletedNCT00769587Phase 2
2Ibrutinib in Treating Patients With Advanced Systemic MastocytosisRecruitingNCT02415608Phase 2
3Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell LeukemiaActive, not recruitingNCT00782067Phase 2
4Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell LeukemiaActive, not recruitingNCT00233454Phase 2
5Midostaurin in Indolent Systemic MastocytosisActive, not recruitingNCT01920204Phase 2
6Imatinib Mesylate (Gleevec) in the Treatment of Systemic SclerosisActive, not recruitingNCT00555581Phase 2
7Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral TherapyCompletedNCT00890747Phase 1
8MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or LeukemiaCompletedNCT01231919Phase 1
9A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced MalignanciesRecruitingNCT02571036Phase 1
10Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid MalignanciesRecruitingNCT02561988Phase 1
11Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without CancerCompletedNCT00112593
12Patient-Reported Outcome Questionnaire for Systemic MastocytosisRecruitingNCT02380222
13Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell LeukemiaRecruitingNCT01807598
14Mast Cell Connect: A Registry for Patients With MastocytosisRecruitingNCT02620254
15Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic MalignanciesActive, not recruitingNCT00014235

Search NIH Clinical Center for Aggressive Systemic Mastocytosis

Genetic Tests for Aggressive Systemic Mastocytosis

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Anatomical Context for Aggressive Systemic Mastocytosis

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MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

33
Bone, Skin, Bone marrow, Lung, Myeloid, Liver, T cells

Animal Models for Aggressive Systemic Mastocytosis or affiliated genes

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MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.8KIT, KITLG, PTPN11, SMPD1, UBE2B
2MP:00053847.3KIT, KITLG, PTPN11, SMPD1, TRIO, UBE2B

Publications for Aggressive Systemic Mastocytosis

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Articles related to Aggressive Systemic Mastocytosis:

(show all 27)
idTitleAuthorsYear
1
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. (25009756)
2014
2
Aggressive Systemic Mastocytosis mimicking lymphoma: Description of an unusual presentation and review of the literature on current management strategies. (24707942)
2014
3
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. (25026279)
2014
4
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. (24989799)
2014
5
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. (24369222)
2013
6
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. (23009979)
2012
7
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. (21196717)
2011
8
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. (21679828)
2011
9
Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. (21261503)
2011
10
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. (20497208)
2011
11
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
12
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. (20025488)
2010
13
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. (17133421)
2007
14
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. (16843741)
2007
15
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. (18055976)
2007
16
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. (17259998)
2007
17
Aggressive systemic mastocytosis presenting with hepatic cholestasis. (17873616)
2007
18
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. (17551405)
2007
19
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)
2006
20
Aggressive systemic mastocytosis: is there a role for trisomy 8? (15725484)
2005
21
Aggressive systemic mastocytosis: a case report and brief review of the literature. (15794480)
2005
22
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
23
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. (15377487)
2004
24
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. (15109544)
2004
25
Aggressive systemic mastocytosis. (12639621)
2003
26
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. (10329843)
1999
27
The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis. (8876560)
1996

Variations for Aggressive Systemic Mastocytosis

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Expression for genes affiliated with Aggressive Systemic Mastocytosis

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Search GEO for disease gene expression data for Aggressive Systemic Mastocytosis.

Pathways for genes affiliated with Aggressive Systemic Mastocytosis

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GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

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Biological processes related to Aggressive Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.3IFNA2, KIT
2regulation of type I interferon-mediated signaling pathwayGO:006033810.3IFNA2, PTPN11
3megakaryocyte developmentGO:003585510.2KIT, PTPN11
4glycosphingolipid metabolic processGO:000668710.0KIT, SMPD1
5positive regulation of MAP kinase activityGO:004340610.0KIT, KITLG
6regulation of phosphatidylinositol 3-kinase signalingGO:00140669.9KITLG, PTPN11
7ovarian follicle developmentGO:00015419.8KIT, KITLG
8cytokine-mediated signaling pathwayGO:00192219.6IFNA2, KIT, PTPN11
9phosphatidylinositol phosphorylationGO:00468549.5KIT, KITLG, PTPN11
10insulin receptor signaling pathwayGO:00082869.2KIT, KITLG, PTPN11
11fibroblast growth factor receptor signaling pathwayGO:00085439.1KIT, KITLG, PTPN11

Sources for Aggressive Systemic Mastocytosis

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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