MCID: SHW002
MIFTS: 58

Shwachman-Diamond Syndrome malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases, Endocrine diseases categories

Aliases & Classifications for Shwachman-Diamond Syndrome

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Aliases & Descriptions for Shwachman-Diamond Syndrome:

Name: Shwachman-Diamond Syndrome 49 32 21 45 22 23 47 51 67
Shwachman Syndrome 21 22 23 51 24
Shwachman-Bodian-Diamond Syndrome 21 22 23 51
Sds 45 23 51 67
Pancreatic Insufficiency and Bone Marrow Dysfunction 45 22 51
Congenital Lipomatosis of Pancreas 45 23
 
Shwachman-Bodian Syndrome 45 23
Pancreatic Insufficiencybone Marrow Dysfunction 21
Metaphyseal Chondrodysplasia, Shwachman Type 23
Lipomatosis of Pancreas, Congenital 45
Shwachman-Diamond-Oski Syndrome 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
shwachman-diamond syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Italy),1-9/1000000 (United Kingdom),1-9/1000000 (Puerto rico),1-9/100000 (Canada),1-9/1000000 (Europe),1-9/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: adult,any age,early childhood,infantile,young Adult


External Ids:

OMIM49 260400
Orphanet51 811
ICD10 via Orphanet28 D61.0
MedGen34 C0272170

Summaries for Shwachman-Diamond Syndrome

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NIH Rare Diseases:45 Shwachman-diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. about 90% of cases of shwachman-diamond syndrome are caused by mutations in the sbds gene. in cases where no sbds mutation is found, the cause of this disorder is unknown. this condition is inherited in an autosomal recessive manner. treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (g-csf), and/or hematopoietic stem cell transplantation. last updated: 6/23/2015

MalaCards based summary: Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to hematopoietic stem cell transplantation and pancreatitis, and has symptoms including exocrine pancreatic insufficiency, eczema and thrombocytopenia. An important gene associated with Shwachman-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond Syndrome), and among its related pathways are threonine degradation and Ribosome biogenesis in eukaryotes. Affiliated tissues include bone, bone marrow and pancreas, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Genetics Home Reference:23 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

OMIM:49 Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities,... (260400) more...

UniProtKB/Swiss-Prot:67 Shwachman-Diamond syndrome: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities.

Wikipedia:68 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital... more...

GeneReviews summary for sds

Related Diseases for Shwachman-Diamond Syndrome

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Diseases related to Shwachman-Diamond Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 324)
idRelated DiseaseScoreTop Affiliating Genes
1hematopoietic stem cell transplantation30.3KMT2A, NPM1, VEGFA
2pancreatitis10.7
3leukemia10.5
4neutropenia10.5
5bacteremia10.4
6myelodysplastic syndrome10.4
7osteoporosis10.4
8cystic fibrosis10.4
9diamond-blackfan anemia10.4
10exocrine pancreatic insufficiency10.4
11hepatitis10.4
12liver disease10.4
13asphyxiating thoracic dystrophy10.4
14pancytopenia10.4
15cardiomyopathy10.4
16retinitis10.4
17hemoglobin sd10.4
18breast cancer10.3
19aplastic anemia10.3
20celiac disease10.3
21dermatofibrosarcoma protuberans10.3
22common variable immunodeficiency10.3
23congestive heart failure10.3
24dilated cardiomyopathy10.3
25sinusitis10.3
26atrioventricular septal defect10.3
27anhidrosis10.3
28diabetic ketoacidosis10.3
29hypoglycemia10.3
30central pontine myelinolysis10.3
31adenocarcinoma10.3
32congenital heart disease10.3
33diarrhea10.3
34lipomatosis10.3
35chromosome 20q deletion10.3
36growth hormone deficiency10.3
37inherited bone marrow failure syndromes10.3
38refractory anemia10.3
39ocular hypertension10.2
40salla disease10.2
41diabetic macular edema10.2
42cork-handlers' disease10.2
43gallbladder cancer10.2
44myopia10.2
45nutritional deficiency disease10.2
46retinal disease10.2
47acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)10.1KMT2A, NPM1
48greenberg skeletal dysplasia10.1
49obesity10.1
50pulmonary disease, chronic obstructive10.1

Graphical network of the top 20 diseases related to Shwachman-Diamond Syndrome:



Diseases related to shwachman-diamond syndrome

Symptoms for Shwachman-Diamond Syndrome

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Symptoms by clinical synopsis from OMIM:

260400

Clinical features from OMIM:

260400

Symptoms:

 51 (show all 28)
  • structural anomalies of the pancreas
  • pancreatic failure/exocrine pancreas disease
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • ichthyosis/ichthyosiform dermatitis
  • eczema
  • malabsorption/chronic diarrhea/steatorrhea
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • metaphyseal anomaly
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • macrocytic anemia
  • thrombocytopenia/thrombopenia
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • complete/partial microdontia
  • multiple caries
  • short rib cage/thorax
  • pectus carinatum
  • scoliosis
  • enanthema/aphtosa/aphta/leukoplakia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • insulin-dependent/type 1 diabetes
  • abnormal gait
  • bone marrow failure/pancytopenia
  • acute leukemia
  • myeloproliferative syndrome/chronic leukemia

HPO human phenotypes related to Shwachman-Diamond Syndrome:

(show all 52)
id Description Frequency HPO Source Accession
1 exocrine pancreatic insufficiency hallmark (90%) HP:0001738
2 eczema typical (50%) HP:0000964
3 thrombocytopenia typical (50%) HP:0001873
4 macrocytic anemia typical (50%) HP:0001972
5 delayed skeletal maturation typical (50%) HP:0002750
6 short stature typical (50%) HP:0004322
7 reduced bone mineral density typical (50%) HP:0004349
8 ichthyosis typical (50%) HP:0008064
9 cognitive impairment typical (50%) HP:0100543
10 carious teeth occasional (7.5%) HP:0000670
11 microdontia occasional (7.5%) HP:0000691
12 pectus carinatum occasional (7.5%) HP:0000768
13 gait disturbance occasional (7.5%) HP:0001288
14 hepatomegaly occasional (7.5%) HP:0002240
15 scoliosis occasional (7.5%) HP:0002650
16 bone marrow hypocellularity occasional (7.5%) HP:0005528
17 short thorax occasional (7.5%) HP:0010306
18 type i diabetes mellitus occasional (7.5%) HP:0100651
19 anterior rib cupping 6% HP:0000907
20 proximal femoral metaphyseal irregularity 6% HP:0003411
21 autosomal recessive inheritance HP:0000007
22 nephrocalcinosis HP:0000121
23 narrow chest HP:0000774
24 enlargement of the costochondral junction HP:0000920
25 intellectual disability, mild HP:0001256
26 global developmental delay HP:0001263
27 specific learning disability HP:0001328
28 failure to thrive HP:0001508
29 small for gestational age HP:0001518
30 myocardial necrosis HP:0001700
31 exocrine pancreatic insufficiency HP:0001738
32 thrombocytopenia HP:0001873
33 neutropenia HP:0001875
34 pancytopenia HP:0001876
35 hepatomegaly HP:0002240
36 steatorrhea HP:0002570
37 neonatal respiratory distress HP:0002643
38 recurrent infections HP:0002719
39 delayed skeletal maturation HP:0002750
40 coxa vara HP:0002812
41 myelodysplasia HP:0002863
42 elevated hepatic transaminases HP:0002910
43 metaphyseal widening HP:0003016
44 ovoid vertebral bodies HP:0003300
45 short stature HP:0004322
46 acute myeloid leukemia HP:0004808
47 metaphyseal sclerosis HP:0004979
48 metaphyseal chondrodysplasia HP:0005871
49 proximal femoral epiphysiolysis HP:0006461
50 irregular ossification at anterior rib ends HP:0006598
51 narrow sacroiliac notch HP:0008803
52 persistence of hemoglobin f HP:0011904

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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Drugs for Shwachman-Diamond Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FludarabineapprovedPhase 2, Phase 3, Phase 1100821679-14-1, 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
2
Busulfanapproved, investigationalPhase 2, Phase 3, Phase 148655-98-12478
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)
3
VidarabineapprovedPhase 2, Phase 322024356-66-932326, 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-β-D-arabinofuranosyl-9H-purin-6-amine
9-β-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
4
alemtuzumabapproved, investigationalPhase 2, Phase 3, Phase 1293216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
5
Cyclophosphamideapproved, investigationalPhase 2, Phase 3, Phase 1252550-18-0, 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
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
6Antilymphocyte SerumPhase 2, Phase 3376
7Fludarabine phosphatePhase 2, Phase 3, Phase 1100830751
8lenograstimPhase 2, Phase 31108
9
Mycophenolate mofetilapproved, investigationalPhase 2864128794-94-55281078
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
10
Mycophenolic acidapprovedPhase 286424280-93-1446541
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
11
MelphalanapprovedPhase 1, Phase 2664148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
Levofalan
 
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan Hydrochloride
Melphalan [USAN:INN:BAN:JAN]
Melphalan hydrochloride
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
12
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
13
Tacrolimusapproved, investigationalPhase 2, Phase 1992104987-11-3445643, 439492, 445647, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
14
ThiotepaapprovedPhase 1, Phase 219952-24-45453
Synonyms:
 
Thioplex
15
PrednisoloneapprovedPhase 1, Phase 2103350-24-85755
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
Flo-pred
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
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
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
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
16
MethotrexateapprovedPhase 213871959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
17
MethylprednisoloneapprovedPhase 1, Phase 2103383-43-26741
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
A-methapred
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)
Depo-medrol
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
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
18
MechlorethamineapprovedPhase 241051-75-24033
Synonyms:
.Beta.,.beta.'-Dichlorodiethyl-N-methylamine
1, 5-Dichloro-3-methyl-3-azapentane hydrochloride
126-85-2 (N-oxide)
2,2'-Dichloro-N-me
2,2'-Dichloro-N-methyldiethylamine
2,2'-Dichlorodiethyl-methylamine
2,2'-dichloro-N-methyldiethylamine
2-Chloro-N-(2-chloroethyl)-N-methylethanamine
302-70-5 (N-oxide, hydrochloride)
51-75-2
55-86-7 (HYDROCHLORIDE)
AC1L1H9H
Antimit
BRN 0605323
BSPBio_001947
Bis(2-chloroethyl)methylamine
Bis(beta-chloroethyl) methylamine
Bis(beta-chloroethyl)methylamine
C07115
C5H11Cl2N
CCRIS 447
CHEBI:28925
CHEMBL427
CID4033
Carolysine
Caryolysin
Caryolysine
Chloramine (the nitrogen mustard)
Chlorethazine
Chlormethine
Chlormethine (INN)
Chlormethine [INN:BAN]
Chlormethinum [INN-Latin]
Cloramin
Clormetina
Clormetina [INN-Spanish]
D07671
DB00888
Di(2-chloroethyl)methylamine
Dichlor amine
Dichloren
DivK1c_000759
EINECS 200-120-5
ENT-25294
Embechine
Embichin
HMS1920J15
HMS2091B04
HMS502F21
HN-2
HN2
HSDB 5083
I14-8708
IBS-L0033631
IDI1_000759
KBio1_000759
KBio2_001369
KBio2_003937
KBio2_006505
KBio3_001447
KBioGR_001448
 
KBioSS_001369
LS-7559
MBA
Me chloroethamine
Mebichloramine
Mechlorethamine
Mechlorethamine hydrochloride
Mechlorethanamine
Mechloroethamine
Mecloretamina
Mecloretamina [Italian]
Methylbis(2-chloroethyl)amine
Methylbis(beta-chloroethyl)amine
Methyldi(2-chloroethyl)amine
Mitoxine (*Hydrochloride*)
MolPort-001-785-592
Mustargen
Mustine
Mustine note
Mutagen
N,N-Bis(2-chloroethyl)-N-methylamine
N,N-Bis(2-chloroethyl)methylamine
N,N-Di(chloroethyl)methylamine
N-Lost
N-Methyl lost
N-Methyl-2,2'-dichlorodiethylamine
N-Methyl-bis(2-chloroethyl)amine
N-Methyl-bis(beta-chloroethyl)amine
N-Methyl-bis-chloraethylamin
N-Methyl-bis-chloraethylamin [German]
N-Methyl-lost
N-Methyl-lost [German]
N-methyl-bis(2-chloroethyl)amine
NCGC00091835-02
NCGC00091835-03
NCGC00091835-04
NCGC00091835-05
NCI60_041682
NINDS_000759
NSC762
Nitol (*Hydrochloride*)
Nitrogen mustard
Nitrogen mustard (HN-2)
Nitrogranulogen
SPBio_000496
SPECTRUM1500375
Spectrum2_000448
Spectrum3_000484
Spectrum4_000924
Spectrum5_001702
Spectrum_000889
Stickstofflost (*Hydrochloride*)
Stickstofflost (ebewe)
T 1024
T-1024
TL 146
UNII-50D9XSG0VR
Valchlor
beta,Beta'-dichlorodiethyl-N-methylamine
beta,beta'-Dichlorodiethyl-N-methylamine
mechlorethamine
thyldiethylamine
β,β'-dichlorodiethyl-N-methylamine
19
Folic Acidapproved, nutraceuticalPhase 2285159-30-36037
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
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
20Prednisolone phosphatePhase 1, Phase 21033
21Methylprednisolone HemisuccinatePhase 1, Phase 21033
22Prednisolone hemisuccinatePhase 1, Phase 21033
23Prednisolone acetatePhase 1, Phase 21033
24
TreosulfanPhase 229299-75-29296
Synonyms:
(2S,3S)-Threitol 1,4-bismethanesulfonate
1,4-Dimethanesulfonate(2S,3S)-Threitol
1,4-DimethanesulfonateL-(+ )-Threitol
1,4-DimethanesulfonateL-Threitol
DHB
Dihydroxybusulfan
 
Dihydroxymyleran
L-Threitol 1,4-dimethanesulfonate
L-Threitol, 1, 4-bis(methanesulfonate)
L-Threitol-1, 4-bis(methanesulfonate)
L-Threitol-1,4-bis(methanesulfonate)
L-Threityl dimesylate
Tresulfan
25Vidarabine PhosphatePhase 2110
26Vitamin B ComplexPhase 22775
27CyclosporinsPhase 2849
28Methylprednisolone acetatePhase 1, Phase 21033
29FolateNutraceuticalPhase 22851
30Vitamin B9NutraceuticalPhase 22851
31Folinic AcidNutraceuticalPhase 22498
32phenylalanineNutraceuticalPhase 2130
33
AbataceptapprovedPhase 1130332348-12-610237
Synonyms:
CTLA4-Ig
CTLA4-IgG4m
 
CTLA4Ig
CTLA4IgG4m
Orencia
34
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
35pancreatin839

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Stem Cell Transplant for Bone Marrow Failure SyndromesCompletedNCT00176878Phase 2, Phase 3
2Stem Cell Transplant for HemoglobinopathyActive, not recruitingNCT00176852Phase 2, Phase 3
3Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure SyndromesCompletedNCT00004787Phase 2
4Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited DisordersRecruitingNCT00919503Phase 2
5CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell TransplantRecruitingNCT02061800Phase 1, Phase 2
6Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic MalignanciesActive, not recruitingNCT01529827Phase 2
7Abatacept Reduced Intensity for Non-Malignant DiseasesRecruitingNCT01917708Phase 1
8Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant DiseasesRecruitingNCT02231710Phase 1
9Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
10Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
11CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant DiseaseRecruitingNCT01966367
12Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationSuspendedNCT01319851

Search NIH Clinical Center for Shwachman-Diamond Syndrome

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Shwachman-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Diamond Syndrome:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Shwachman-Diamond Syndrome:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Shwachman-Diamond Syndrome

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Genetic tests related to Shwachman-Diamond Syndrome:

id Genetic test Affiliating Genes
1 Shwachman-Diamond Syndrome22 SBDS
2 Shwachman Syndrome24

Anatomical Context for Shwachman-Diamond Syndrome

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MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

33
Bone, Bone marrow, Pancreas, Myeloid, Neutrophil, Liver, Brain

Animal Models for Shwachman-Diamond Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9EIF6, KMT2A, NPM1, SBDS, VEGFA
2MP:00053978.2ARHGEF12, FPR1, KMT2A, NPM1, SBDS, TNFRSF11B
3MP:00053847.9ARHGEF12, EIF6, FPR1, KMT2A, NPM1, SBDS
4MP:00053877.9ARHGEF12, FPR1, KMT2A, NPM1, SBDS, TNFRSF11B
5MP:00053787.4ARHGEF12, EIF6, KMT2A, NPM1, SBDS, TNFRSF11B

Publications for Shwachman-Diamond Syndrome

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Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 189)
idTitleAuthorsYear
1
CNS lymphoma in a patient with Shwachman Diamond syndrome. (24307640)
2014
2
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. (24898207)
2014
3
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. (24629175)
2014
4
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. (23602541)
2013
5
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. (23803361)
2013
6
Shwachman-Diamond syndrome: diarrhea, no longer required? (22935661)
2013
7
Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis. (22295858)
2012
8
Breast cancer in a case of Shwachman Diamond syndrome. (22213587)
2012
9
Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings. (22157033)
2012
10
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. (22491737)
2012
11
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. (22315206)
2012
12
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. (22510201)
2012
13
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. (23115272)
2012
14
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. (21695142)
2011
15
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
16
Defective ribosome assembly in Shwachman-Diamond syndrome. (21803848)
2011
17
A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. (21448781)
2011
18
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. (21124213)
2010
19
Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. (20501449)
2010
20
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome. (20718726)
2010
21
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. (19327581)
2009
22
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (19014892)
2009
23
Shwachman-Diamond syndrome presenting as hypoglycemia. (18832544)
2009
24
Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome. (19016724)
2009
25
Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test. (18607018)
2008
26
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. (18478597)
2008
27
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia. (18322927)
2008
28
Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome. (17211437)
2007
29
Bacteremia caused by Rothia mucilaginosa in a patient with Shwachman-Diamond syndrome. (17565469)
2007
30
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. (17046571)
2006
31
Shwachman-Diamond syndrome: UK perspective. (16714727)
2006
32
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. (15701631)
2005
33
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. (15005350)
2004
34
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (14749921)
2004
35
Lithium effects on neutrophil motility in Shwachman-Diamond syndrome: evaluation by computer-assisted image analysis. (14531925)
2003
36
Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. (14667205)
2003
37
Bone marrow transplantation in Shwachman-Diamond syndrome. (12203143)
2002
38
Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. (12298432)
2002
39
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. (11918553)
2002
40
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. (11342425)
2001
41
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (11254457)
2001
42
Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction. (11343509)
2001
43
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. (10520024)
1999
44
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. (9359520)
1997
45
Shwachman-Diamond syndrome and matched unrelated donor BMT. (8547872)
1995
46
Shwachman-Diamond syndrome: clinical, radiological and sonographic findings. (7567263)
1995
47
Sinusitis and bacteremia caused by Flavobacterium meningosepticum in a sixteen-year-old with Shwachman Diamond syndrome. (1630865)
1992
48
Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation. (2285129)
1990
49
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
50
Impaired neutrophil kinesis in a patient with the Shwachman-Diamond syndrome. (687246)
1978

Variations for Shwachman-Diamond Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Diamond Syndrome:

67
id Symbol AA change Variation ID SNP ID
1SBDSp.Asn8LysVAR_015390rs28942099
2SBDSp.Glu44GlyVAR_015391
3SBDSp.Lys67GluVAR_015392
4SBDSp.Ile87SerVAR_015393
5SBDSp.Arg126ThrVAR_015394
6SBDSp.Arg169CysVAR_015395
7SBDSp.Ile212ThrVAR_015396rs79344818
8SBDSp.Lys33ThrVAR_071673

Clinvar genetic disease variations for Shwachman-Diamond Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SBDSNM_016038.2(SBDS): c.119delG (p.Ser41Alafs)deletionPathogenicrs113993990GRCh37Chr 7, 66460286: 66460286
2SBDSNM_016038.2(SBDS): c.258+1G> Csingle nucleotide variantPathogenicrs113993992GRCh37Chr 7, 66459198: 66459198
3SBDSNM_016038.2(SBDS): c.297_300delAAGA (p.Glu99Aspfs)deletionPathogenicrs113993994GRCh37Chr 7, 66458363: 66458366
4SBDSNM_016038.2(SBDS): c.377G> C (p.Arg126Thr)single nucleotide variantPathogenicrs113993995GRCh37Chr 7, 66458286: 66458286
5SBDSNM_016038.2(SBDS): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs113993996GRCh37Chr 7, 66456243: 66456243
6SBDSNM_016038.2(SBDS): c.624+1G> Csingle nucleotide variantPathogenicrs113993997GRCh37Chr 7, 66456123: 66456123
7SBDSNM_016038.2(SBDS): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicrs113993998GRCh37Chr 7, 66453459: 66453459
8SBDSNM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter)indelPathogenicrs113993991GRCh37Chr 7, 66459273: 66459274
9SBDSNM_016038.2(SBDS): c.258+2T> Csingle nucleotide variantPathogenic, risk factorrs113993993GRCh37Chr 7, 66459197: 66459197
10SBDSNM_016038.2(SBDS): c.24C> A (p.Asn8Lys)single nucleotide variantPathogenicrs28942099GRCh37Chr 7, 66460381: 66460381
11SBDSSBDS, 1-BP INS, 96AinsertionPathogenic

Expression for genes affiliated with Shwachman-Diamond Syndrome

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Search GEO for disease gene expression data for Shwachman-Diamond Syndrome.

Pathways for genes affiliated with Shwachman-Diamond Syndrome

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Pathways related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0SBDS, SDS
29.1EFTUD1, EIF6, SBDS

GO Terms for genes affiliated with Shwachman-Diamond Syndrome

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Biological processes related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mature ribosome assemblyGO:00422569.1EFTUD1, EIF6, SBDS

Molecular functions related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ribosomal large subunit bindingGO:00430239.7EIF6, NPM1
2ribosome bindingGO:00430229.1EFTUD1, EIF6, SBDS

Sources for Shwachman-Diamond 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