MCID: PNC045
MIFTS: 44

Pancreatic Agenesis malady

Categories: Genetic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Pancreatic Agenesis

About this section
Sources:
11Disease Ontology, 13DISEASES, 52Orphanet, 12diseasecard, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pancreatic Agenesis:

Name: Pancreatic Agenesis 11 13 12
Partial Pancreatic Agenesis 11 52
Partial Agenesis of the Pancreas 52
 
Pancreatic Agenesis, Congenital 66
Congenital Pancreatic Agenesis 52

Characteristics:

Orphanet epidemiological data:

52
partial pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050877
Orphanet52 ORPHA2805
ICD10 via Orphanet29 Q45.0

Summaries for Pancreatic Agenesis

About this section
Disease Ontology:11 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

MalaCards based summary: Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to neonatal diabetes mellitus and pancreatic agenesis and congenital heart defects, and has symptoms including intrauterine growth retardation, abnormality of the pancreas and maternal diabetes. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways are Notch-mediated HES/HEY network and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include pancreas, bone and bone marrow, and related mouse phenotypes are normal and liver/biliary system.

Related Diseases for Pancreatic Agenesis

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Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 2 Pancreatic Agenesis 1

Diseases related to Pancreatic Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus29.3GCK, INS, KCNJ11
2pancreatic agenesis and congenital heart defects12.3
3pancreatic agenesis 212.2
4pancreatic agenesis 112.2
5agenesis of the dorsal pancreas11.6
6pancreatitis10.4
7maturity-onset diabetes of the young, type 1310.2ABCC8, KCNJ11
8usher syndrome, type 1c10.2ABCC8, KCNJ11
9hemimegalencephaly10.1ABCC8, KCNJ11
10fecal incontinence10.0PDX1, PTF1A
11retinitis pigmentosa 6810.0ABCC8, INS
12rectum signet ring adenocarcinoma10.0PTF1A, SOX17
13alstrom syndrome9.9INS, KCNJ11
14diabetes mellitus, transient neonatal, 39.8ABCC8, INS, KCNJ11
15acute insulin response9.8ABCC8, INS, KCNJ11
16writing disorder9.7ABCC8, GCK, KCNJ11
17nephronophthisis 199.7ABCC8, INS, KCNJ11
18laryngeal carcinoma9.7ABCC8, INS, KCNJ11
19obesity9.7
20pervasive developmental disorder9.7
21portal hypertension9.7
22heart disease9.7
23congenital heart disease9.7
24congenital diaphragmatic hernia9.7
25gastroduodenitis9.7
26renal dysplasia9.7
27perlman syndrome9.7ABCC8, GCK, KCNJ11
2818p deletion syndrome9.5ABCC8, GCK, KCNJ11
29intraocular lymphoma9.5ABCC8, GCK, INS
30labyrinthine bilateral reactive loss9.4GCK, INS
31toxic megacolon9.2ABCC8, GCK, INS, KCNJ11
32patellofemoral pain syndrome9.2ABCC8, GCK, INS, KCNJ11
33anatomical narrow angle borderline glaucoma9.2ABCC8, GCK, INS, KCNJ11
34gestational choriocarcinoma9.2ABCC8, GCK, INS, KCNJ11
35short bowel syndrome9.2ABCC8, GCK, INS, KCNJ11
36femoral neuropathy9.2ABCC8, GCK, INS, KCNJ11
37survival motor neuron spinal muscular atrophy9.2ABCC8, GCK, INS, KCNJ11
38hypertrichosis9.2ABCC8, GCK, INS, KCNJ11
39proximal chromosome 18q deletion syndrome8.9ABCC8, GCK, INS, KCNJ11, PDX1
40diaphanospondylodysostosis8.9ABCC8, GCK, INS, KCNJ11, PDX1
41adult spinal muscular atrophy8.9ABCC8, GCK, INS, KCNJ11, PDX1
42diabetes mellitus, noninsulin-dependent8.8ABCC8, GCK, INS, KCNJ11, PDX1
43hepatic adenoma, somatic8.8ABCC8, GCK, INS, KCNJ11, PDX1
44hyperlipoproteinemia type iv8.6ABCC8, GCK, INS, KCNJ11, PDX1, PTF1A
45inclusion body myopathy with paget disease of bone and frontotemporal dementia6.9ABCC8, GATA6, GCK, HMX1, INS, KCNJ11

Graphical network of the top 20 diseases related to Pancreatic Agenesis:



Diseases related to pancreatic agenesis

Symptoms for Pancreatic Agenesis

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HPO human phenotypes related to Pancreatic Agenesis:

id Description Frequency HPO Source Accession
1 intrauterine growth retardation hallmark (90%) HP:0001511
2 abnormality of the pancreas hallmark (90%) HP:0001732
3 maternal diabetes hallmark (90%) HP:0009800
4 type i diabetes mellitus hallmark (90%) HP:0100651

Drugs & Therapeutics for Pancreatic Agenesis

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Alkylating AgentsPhase 2, Phase 34573
2
VidarabinePhase 2, Phase 347524356-66-932326, 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
3
FludarabinePhase 2, Phase 3109221679-14-1, 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-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
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 [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
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
4
BusulfanPhase 2, Phase 353255-98-12478
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)
5
alemtuzumabPhase 2, Phase 3303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
6lenograstimPhase 2, Phase 31178
7
CyclophosphamidePhase 2, Phase 3275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
8
MelphalanPhase 2697148-82-34053, 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 [USAN:INN:BAN:JAN]
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
9
Mycophenolate mofetilPhase 2, Phase 1919128794-94-55281078
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 (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 acidPhase 2, Phase 191924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
11
TacrolimusPhase 21058104987-11-3445643, 439492
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
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
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
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 (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
12
MechlorethaminePhase 236351-75-24033
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
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
beta,Beta'-dichlorodiethyl-N-methylamine
beta,beta'-Dichlorodiethyl-N-methylamine
mechlorethamine
thyldiethylamine
β,β'-dichlorodiethyl-N-methylamine
13
MethotrexatePhase 214961959-05-2, 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 Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
14phenylalanineNutraceuticalPhase 2155
15FolateNutraceuticalPhase 24143
16
Folic AcidNutraceuticalPhase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
17
AbataceptPhase 1188332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
18
Iron10807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
19
Alefacept40222535-22-0
Synonyms:
 
ASP0485

Interventional clinical trials:

idNameStatusNCT IDPhase
1Stem Cell Transplant for Bone Marrow Failure SyndromesCompletedNCT00176878Phase 2, Phase 3
2Stem Cell Transplant for HemoglobinopathyActive, not recruitingNCT00176852Phase 2, Phase 3
3Fludarabine 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
4BMT Abatacept for Non-Malignant DiseasesRecruitingNCT01917708Phase 1
5CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant DiseaseRecruitingNCT01966367
6Genes Influencing Iron Overload StateActive, not recruitingNCT01158794
7Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationSuspendedNCT01319851

Search NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

About this section

Anatomical Context for Pancreatic Agenesis

About this section

MalaCards organs/tissues related to Pancreatic Agenesis:

34
Pancreas, Bone, Bone marrow, Heart, Uterus, Kidney, Liver

Animal Models for Pancreatic Agenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Pancreatic Agenesis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4GATA6, INS, PDX1, PTF1A, SOX17
2MP:00053708.2GATA6, GCK, INS, PDX1, PTF1A, SOX17
3MP:00030127.3ABCC8, HMX1, INS, KCNJ11, PDX1, PTF1A
4MP:00053797.2ABCC8, GCK, INS, KCNJ11, PDX1, PTF1A
5MP:00053766.9ABCC8, GATA6, GCK, INS, KCNJ11, PDX1
6MP:00107686.6GATA6, GCK, HMX1, INS, KCNJ11, PDX1
7MP:00053786.2GATA6, GCK, HMX1, INS, KCNJ11, PDX1

Publications for Pancreatic Agenesis

About this section

Articles related to Pancreatic Agenesis:

(show all 32)
idTitleAuthorsYear
1
Dorsal pancreatic agenesis: description of CT signs. (26976832)
2016
2
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. (27654989)
2016
3
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. (25791554)
2015
4
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. (25706805)
2015
5
MR in complete dorsal pancreatic agenesis: Case report and review of literature. (25024525)
2014
6
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (24382792)
2014
7
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (24212882)
2014
8
A novel mutation in GATA6 causes pancreatic agenesis. (24433315)
2014
9
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. (25584257)
2014
10
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. (23223019)
2013
11
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay. (24310933)
2013
12
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. (24147249)
2013
13
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. (23006325)
2012
14
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. (22270042)
2012
15
GATA6 haploinsufficiency causes pancreatic agenesis in humans. (22158542)
2012
16
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. (22806356)
2012
17
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. (21488951)
2011
18
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. (20854389)
2010
19
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
20
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
21
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
22
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
23
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
24
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
25
Dorsal pancreatic agenesis. (17625298)
2007
26
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
27
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
28
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. (11193482)
2000
29
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (8988180)
1997
30
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
31
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
32
Long-term survival in a case of functional pancreatic agenesis. (7000995)
1980

Variations for Pancreatic Agenesis

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Clinvar genetic disease variations for Pancreatic Agenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDX1NM_000209.3(PDX1): c.533A> G (p.Glu178Gly)single nucleotide variantPathogenicrs387906777GRCh37Chr 13, 28498519: 28498519
2PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic

Expression for genes affiliated with Pancreatic Agenesis

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Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for genes affiliated with Pancreatic Agenesis

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Pathways related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8GATA6, PTF1A
29.6ABCC8, KCNJ11
39.6ABCC8, KCNJ11
49.4INS, SOX17
5
Show member pathways
9.1ABCC8, INS, KCNJ11
6
Show member pathways
9.0GCK, INS, PDX1
7
Show member pathways
9.0ABCC8, GCK, KCNJ11
88.8INS, PDX1, PTF1A, SOX17
9
Show member pathways
8.7GCK, INS, PDX1, PTF1A
10
Show member pathways
8.1ABCC8, GCK, INS, KCNJ11, PDX1
11
Show member pathways
8.1ABCC8, GCK, INS, KCNJ11, PDX1
128.1ABCC8, GCK, INS, KCNJ11, PDX1

GO Terms for genes affiliated with Pancreatic Agenesis

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Cellular components related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.2GATA6, PTF1A, SOX17

Biological processes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1type B pancreatic cell differentiationGO:000330910.4GATA6, PDX1
2exocrine pancreas developmentGO:003101710.4PDX1, PTF1A
3cell fate commitmentGO:004516510.3GATA6, PTF1A
4endodermal cell fate determinationGO:000749310.3GATA6, SOX17
5stem cell differentiationGO:004886310.2PDX1, SOX17
6detection of glucoseGO:005159410.2GCK, PDX1
7positive regulation of glycolytic processGO:004582110.0GCK, INS
8glucose transportGO:00157589.9GCK, INS
9positive regulation of glycogen biosynthetic processGO:00457259.9GCK, INS
10positive regulation of cell differentiationGO:00455979.9INS, SOX17
11pancreas developmentGO:00310169.9GATA6, PDX1, PTF1A
12negative regulation of gluconeogenesisGO:00457219.9GCK, INS
13positive regulation of insulin secretionGO:00320249.6GCK, PDX1
14negative regulation of insulin secretionGO:00466769.6ABCC8, KCNJ11
15regulation of insulin secretionGO:00507969.5ABCC8, GCK, KCNJ11
16glucose homeostasisGO:00425939.4GCK, INS, PDX1
17positive regulation of transcription, DNA-templatedGO:00458939.2GATA6, PDX1, PTF1A, SOX17
18glucose metabolic processGO:00060069.0GCK, INS, KCNJ11, PDX1
19response to drugGO:00424938.9ABCC8, GATA6, KCNJ11, PDX1
20negative regulation of transcription from RNA polymerase II promoterGO:00001228.1GATA6, HMX1, PDX1, SOX17

Molecular functions related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:001527210.3ABCC8, KCNJ11
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.8GATA6, PDX1, SOX17
3transcription factor bindingGO:00081349.2GATA6, PDX1, SOX17
4sequence-specific DNA bindingGO:00435658.9GATA6, PDX1, PTF1A, SOX17
5DNA bindingGO:00036777.8GATA6, HMX1, PDX1, PTF1A, SOX17

Sources for Pancreatic Agenesis

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