AAPC
MCID: ATT003
MIFTS: 47

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 48 54
Attenuated Fap 48 24 54 27
Attenuated Adenomatous Polyposis Coli 48 24 27
Attenuated Familial Polyposis Coli 48 54
Aapc 48 24
 
Afap 48 54
Familial Adenomatous Polyposis, Attenuated 68
Adenomatous Polyposis Coli, Attenuated 68
Hereditary Flat Adenoma Syndrome 24
Mild Form of Fap 48

Characteristics:

Orphanet epidemiological data:

54
attenuated fap:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

Classifications:



External Ids:

Orphanet54 ORPHA220460
MESH via Orphanet40 C538265
UMLS via Orphanet69 C2674616
ICD10 via Orphanet31 D12.6

Summaries for Attenuated Familial Adenomatous Polyposis

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NIH Rare Diseases:48 Attenuated familial adenomatous polyposis (afap) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. it is a milder form of classic familial adenomatous polyposis (fap) and is characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer (average age 50 to 55 years). other signs and symptoms may include benign or malignant tumors of the duodenum (a section of the small intestine) and, in rare cases, other symptoms of fap. afap is caused by mutations in the apc gene and is inherited in an autosomal dominant manner. afap is generally managed with regular screening to detect if and when polyps develop. last updated: 4/6/2015

MalaCards based summary: Attenuated Familial Adenomatous Polyposis, also known as attenuated fap, is related to colorectal cancer and axin2-related attenuated familial adenomatous polyposis. An important gene associated with Attenuated Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways are Wnt/beta-catenin Signaling Pathway in Leukemia and Wnt Signaling Pathway Netpath. Affiliated tissues include colon, small intestine and testes, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and mortality/aging.

Wikipedia:71 Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer... more...

Related Diseases for Attenuated Familial Adenomatous Polyposis

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Diseases in the Attenuated Familial Adenomatous Polyposis family:

Axin2-Related Attenuated Familial Adenomatous Polyposis Msh3-Related Attenuated Familial Adenomatous Polyposis

Diseases related to Attenuated Familial Adenomatous Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer29.1APC, AXIN2, MSH2, MSH6, MUTYH, OGG1
2axin2-related attenuated familial adenomatous polyposis12.2
3msh3-related attenuated familial adenomatous polyposis12.2
4familial adenomatous polyposis11.8
5adenomas, multiple colorectal11.2
6adenomatous polyposis coli11.2
7familial adenomatous polyposis 311.2
8htr2a-related altered drug metabolism10.2APC, MUTYH
9hereditary sensory and autonomic neuropathy with deafness and global delay10.2APC, MUTYH
10mitochondrial neurogastrointestinal encephalopathy disease10.2APC, MUTYH
11infantile thalamic degeneration10.2APC, MUTYH
12glomerulosclerosis, focal segmental, 710.2APC, MUTYH
13gastric cancer, somatic10.1APC, MUTYH
14large intestine adenoma10.1MSH2, MSH6
15benign fibrous mesothelioma10.1MSH2, MSH6
16neuropathy, distal hereditary motor, type viib10.1MSH2, MSH6
17cardiomyopathy, dilated, 1r10.1MSH2, MSH6
18churg-strauss syndrome10.1MSH2, MSH6
19cauda equina neoplasm10.0MSH2, MSH6
20neurofibromatosis-noonan syndrome10.0MSH2, MSH6
21cerebrooculofacioskeletal syndrome 210.0APEX1, OGG1
22rectum adenoma10.0APC, OGG1
23ehlers-danlos syndrome, type viic10.0APC, AXIN2
24familial hypopituitarism10.0APC, MSH2, MUTYH
25neuroretinitis10.0MSH2, MSH6
26ideomotor apraxia10.0APC, MSH2, MUTYH
27fibromatosis, gingival, 110.0APC, MSH2, MSH6
28mismatch repair cancer syndrome10.0MSH2, MSH6, MUTYH
29t-cell large granular lymphocyte leukemia10.0MSH2, MSH6, MUTYH
30bladder colonic type adenocarcinoma10.0APC, MSH2, MUTYH
31proctitis9.9MSH2, MSH6, MUTYH
32wolffian duct adenoma9.9MSH2, MSH6
33muir-torre syndrome9.9
34gastric cancer9.9
35adenocarcinoma9.9
36adenoma9.9
37duodenitis9.9
38skin papilloma9.8MSH2, MSH6
39hnrnpa1-related amyotrophic lateral sclerosis9.8APC, MSH2, MSH6, MUTYH
40muscular dystrophy-dystroglycanopathy , type b, 29.8APC, MSH2, MSH6, MUTYH
41hidradenoma9.6APC, MSH2, MSH6, MUTYH, OGG1
42asperger syndrome9.1APC, AXIN2, MSH2, MSH6, MUTYH, NUDT1
43autoimmune autonomic ganglionopathy8.9APC, APEX1, AXIN2, MSH2, MSH6, MUTYH

Graphical network of the top 20 diseases related to Attenuated Familial Adenomatous Polyposis:



Diseases related to attenuated familial adenomatous polyposis

Symptoms & Phenotypes for Attenuated Familial Adenomatous Polyposis

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GenomeRNAi Phenotypes related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.1APEX1, MSH2, MSH6, MUTYH, NUDT1, OGG1

MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0APC, APEX1, AXIN2, MSH2, MSH6, MUTYH
2MP:00053767.7APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
3MP:00020067.7APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
4MP:00036317.3APC, AXIN2, MSH2, MUTYH, NUDT1, OGG1
5MP:00053847.2APC, APEX1, AXIN2, MSH2, MSH6, MUTYH

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

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Drugs for Attenuated Familial Adenomatous Polyposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Erythromycinapproved, vet_approvedPhase 499114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
2Erythromycin stearatePhase 499
3Anti-Bacterial AgentsPhase 411226
4Erythromycin EthylsuccinatePhase 499
5Gastrointestinal AgentsPhase 48402
6Anti-Infective AgentsPhase 422062
7Erythromycin EstolatePhase 499
8
SulindacapprovedPhase 23738194-50-25352, 1548887
Synonyms:
(E)-(1)-5-Fluoro-2-methyl-1-((4-(methylsulphinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-((P-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-((p-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-[[4-(methyl-sulfinyl)phenyl]methylene]-1H-indene-3-acetic acid
(Z)-5-Fluoro-2-methyl-1-[p-(methylsulfinyl)benzylidene]indene-3-acetic acid
2-[(3E)-6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
2-[(3Z)-6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
2-[6-fluoro-2-methyl-3-[(4-methylsulfinylphenyl)methylidene]inden-1-yl]acetic acid
32004-68-5
38194-50-2
5-Fluoro-2-methyl-1-((4-(methylsulphinyl)phenyl)methylene)-1H-indene-3-acetic acid
53933-60-1
6301-55-9
9000-14-0
AB00513800
AC-4550
AC1L1K5T
AC1LU7GU
AC1LU7GY
AC1Q6YHK
AKOS004119989
AR-1A9609
Aclin
Aflodac
Alphapharm Brand of Sulindac
Apo Sulin
Apo-Sulin
Apotex Brand of Sulindac
Arthrobid
Arthrocine
BB_SC-1128
BPBio1_000315
BRD-A03427350-001-01-3
BRD-A13946108-001-04-9
BRN 2951842
BSPBio_000285
BSPBio_002890
C01531
C20H17FO3S
CAS-38194-50-2
CCRIS 3305
CHEBI:9352
CHEMBL1376
CID1548885
CID1548887
CID5352
CPD000326718
Cahill May Roberts Brand of Sulindac
Chemia Brand of Sulindac
Chibret
Clinoril
Clinoril (TN)
Copal
Copal resin
Copal rosin varnish
Copals
D00120
D013467
DB00605
DivK1c_000601
EINECS 232-527-9
EINECS 250-893-8
EINECS 253-819-2
EINECS 258-873-0
EU-0101070
Gum copal
HMS1568O07
HMS1921C11
HMS2089J04
HMS2092K15
HMS501O03
I06-0523
IDI1_000601
KBio1_000601
KBio2_001506
KBio2_002320
KBio2_004074
KBio2_004888
KBio2_006642
KBio2_007456
KBio3_002110
KBio3_002800
KBioGR_001571
 
KBioGR_002320
KBioSS_001506
KBioSS_002322
KST-1B6530
Kenalin
Kendrick Brand of Sulindac
Klinoril
LS-81610
Lopac-S-8139
Lopac0_001070
MK 231
MK-231
MK231
MLS001056554
MLS001304027
MLS002207124
Merck Brand of Sulindac
Merck Sharp & Dohme Brand of Sulindac
Mobilin
MolPort-002-507-760
MolPort-003-666-287
NCGC00015970-01
NCGC00015970-02
NCGC00015970-03
NCGC00015970-08
NCGC00025268-01
NCGC00025268-02
NCGC00025268-03
NCGC00094349-01
NCGC00094349-02
NINDS_000601
Novo Sundac
Novo-Sundac
Novopharm Brand of Sulindac
Nu Pharm Brand of Sulindac
Nu Sulindac
Nu-Pharm Brand of Sulindac
Nu-Sulindac
Prestwick0_000073
Prestwick1_000073
Prestwick2_000073
Prestwick3_000073
Prestwick_456
Resin copal
S 8139
S2007_Selleck
S4429_SIAL
S8139_SIAL
S8139_SIGMA
SAM002554933
SBB058181
SMR000043852
SMR000326718
SPBio_001451
SPBio_002206
SPECTRUM1500556
STK802068
Spectrum2_001326
Spectrum3_001365
Spectrum4_000876
Spectrum5_001024
Spectrum_001026
Sulindac
Sulindac (JAN/USP/INN)
Sulindac [USAN:BAN:INN:JAN]
Sulindac sulfoxide
Sulindaco
Sulindaco [INN-Spanish]
Sulindacum
Sulindacum [INN-Latin]
Sulindal
Tocris-1707
UNII-184SNS8VUH
UNII-M5221THD3M
UNM-0000306136
Z-5-Fluoro-2-methyl-1-[p-(methlsulfinyl)benzylidene]indene-3-acetic acid
[(1E)-5-fluoro-2-methyl-1-{[4-(methylsulfinyl)phenyl]methylidene}-1H-inden-3-yl]acetic acid
cMAP_000021
cis-5-Fluoro-2-methyl-1-((4-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-((P-methylsulfinyl)benzylidene)indene-3-acetic acid
cis-5-Fluoro-2-methyl-1-((p-methylsulfinyl)benzylidene)indene-3-acetic acid
sulindac
{(1E)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid
{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid
{5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1h-inden-3-yl}acetic acid
9
Vitamin Aapproved, nutraceutical, vet_approvedPhase 249211103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
10Peripheral Nervous System AgentsPhase 223689
11Protein Kinase InhibitorsPhase 23689
12
Erlotinib HydrochloridePhase 2810183319-69-9176871
Synonyms:
 
erlotinib hydrochloride
13Retinol palmitatePhase 2492
14Anti-Inflammatory Agents, Non-SteroidalPhase 24443
15Anti-Inflammatory AgentsPhase 210729
16Cyclooxygenase InhibitorsPhase 22870
17Antirheumatic AgentsPhase 210956
18AnalgesicsPhase 211733
19Analgesics, Non-NarcoticPhase 26501
20retinolNutraceuticalPhase 2492
21ColaNutraceuticalPhase 21946

Interventional clinical trials:

idNameStatusNCT IDPhase
1Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous PolyposisUnknown statusNCT02175914Phase 4
2Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted VersionNot yet recruitingNCT02354560Phase 4
3A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis PatientsCompletedNCT01187901Phase 2
4Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon CancerNot yet recruitingNCT02961374Phase 2
5Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance ProgramRecruitingNCT02747862

Search NIH Clinical Center for Attenuated Familial Adenomatous Polyposis

Genetic Tests for Attenuated Familial Adenomatous Polyposis

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Genetic tests related to Attenuated Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Adenomatous Polyposis Coli, Attenuated27
2 Attenuated Fap27 24 APC

Anatomical Context for Attenuated Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

36
Colon, Small intestine, Testes, Pancreas

Publications for Attenuated Familial Adenomatous Polyposis

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Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 43)
idTitleAuthorsYear
1
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. (27081525)
2015
2
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. (24549056)
2014
3
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. (24790607)
2014
4
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. (23423322)
2013
5
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. (23244118)
2012
6
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. (21813337)
2012
7
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (21815886)
2011
8
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. (21375864)
2011
9
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
10
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
11
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. (21078199)
2010
12
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. (18609144)
2008
13
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
14
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
15
American founder mutation for attenuated familial adenomatous polyposis. (18063416)
2008
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
17
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
18
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
19
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
20
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
21
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. (16461775)
2006
22
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. (16873575)
2006
23
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
2006
24
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
25
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
26
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
27
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
28
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
29
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
30
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
31
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
32
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
33
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
2002
34
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. (12135043)
2002
35
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? (12164972)
2002
36
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. (11766074)
2001
37
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. (11321399)
2001
38
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
2000
39
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
40
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. (10494086)
1999
41
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. (9603437)
1998
42
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein. (8655134)
1996
43
Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. (8625067)
1995

Variations for Attenuated Familial Adenomatous Polyposis

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Expression for genes affiliated with Attenuated Familial Adenomatous Polyposis

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Search GEO for disease gene expression data for Attenuated Familial Adenomatous Polyposis.

Pathways for genes affiliated with Attenuated Familial Adenomatous Polyposis

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Pathways related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.6APC, AXIN2
29.6APC, AXIN2
3
Show member pathways
9.6MUTYH, OGG1
49.4MSH2, MSH6
59.4MSH2, MSH6
6
Show member pathways
9.4APEX1, MSH2
78.6APC, AXIN2, MSH2, MSH6
88.6APC, AXIN2, MSH2, MSH6
9
Show member pathways
8.6APC, AXIN2, MSH2, MSH6
10
Show member pathways
8.5APEX1, MSH2, MSH6, OGG1
11
Show member pathways
8.1APEX1, MSH2, MSH6, MUTYH, OGG1
127.8APEX1, MSH2, MSH6, MUTYH, NUDT1

GO Terms for genes affiliated with Attenuated Familial Adenomatous Polyposis

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Cellular components related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:003087710.4APC, AXIN2
2MutSalpha complexGO:003230110.3MSH2, MSH6
3nucleoplasmGO:00056548.5APC, APEX1, MSH2, MSH6, MUTYH, OGG1
4nucleusGO:00056346.4APC, APEX1, AXIN2, MSH2, MSH6, MUTYH

Biological processes related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:004500710.2MUTYH, OGG1
2determination of adult lifespanGO:000834010.1MSH2, MSH6
3intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.0MSH2, MSH6
4positive regulation of cell deathGO:001094210.0APC, AXIN2
5isotype switchingGO:004519010.0MSH2, MSH6
6negative regulation of DNA recombinationGO:00459109.9MSH2, MSH6
7base-excision repairGO:00062849.8APEX1, MUTYH, OGG1
8positive regulation of helicase activityGO:00510969.8MSH2, MSH6
9mismatch repairGO:00062989.6MSH2, MSH6, MUTYH
10somatic hypermutation of immunoglobulin genesGO:00164469.5MSH2, MSH6
11maintenance of DNA repeat elementsGO:00435709.5AXIN2, MSH2, MSH6
12somatic recombination of immunoglobulin gene segmentsGO:00164479.4MSH2, MSH6
13agingGO:00075689.4APEX1, NUDT1, OGG1
14cellular response to DNA damage stimulusGO:00069748.4APC, APEX1, MSH2, MSH6, MUTYH, OGG1
15DNA repairGO:00062817.8APEX1, MSH2, MSH6, MUTYH, NUDT1, OGG1

Molecular functions related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA N-glycosylase activityGO:001910410.1MUTYH, OGG1
2ADP bindingGO:004353110.0MSH2, MSH6
3DNA-(apurinic or apyrimidinic site) lyase activityGO:000390610.0APEX1, OGG1
4four-way junction DNA bindingGO:00004009.9MSH2, MSH6
5guanine/thymine mispair bindingGO:00321379.8MSH2, MSH6
6mismatched DNA bindingGO:00309839.8MSH2, MSH6
7single thymine insertion bindingGO:00321439.4MSH2, MSH6
8MutLalpha complex bindingGO:00324059.4MSH2, MSH6, MUTYH
9single guanine insertion bindingGO:00321429.3MSH2, MSH6
10oxidized purine DNA bindingGO:00323579.0MSH2, MSH6, OGG1
11damaged DNA bindingGO:00036849.0APEX1, MSH2, MSH6, OGG1

Sources for Attenuated Familial Adenomatous Polyposis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet