MCID: ATT003
MIFTS: 47

Attenuated Familial Adenomatous Polyposis malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

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Sources:
46NIH Rare Diseases, 23GeneTests, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 46 52
Attenuated Fap 46 23 52 25
Attenuated Adenomatous Polyposis Coli 46 23 25
Attenuated Familial Polyposis Coli 46 52
Afap 46 52
 
Aapc 46 23
Familial Adenomatous Polyposis, Attenuated 66
Adenomatous Polyposis Coli, Attenuated 66
Hereditary Flat Adenoma Syndrome 23
Mild Form of Fap 46

Characteristics:

Orphanet epidemiological data:

52
attenuated fap:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

Classifications:



External Ids:

Orphanet52 ORPHA220460
ICD10 via Orphanet29 D12.6
MESH via Orphanet38 C538265
UMLS via Orphanet67 C2674616

Summaries for Attenuated Familial Adenomatous Polyposis

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NIH Rare Diseases:46 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 muir-torre syndrome and colorectal cancer. An important gene associated with Attenuated Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways are BRCA1 Pathway and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include colon, small intestine and testes, and related mouse phenotypes are cellular and neoplasm.

Wikipedia:69 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

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome29.7MSH2, MSH6, MUTYH
2colorectal cancer27.7APC, MSH2, MSH6, MUTYH, OGG1
3axin2-related attenuated familial adenomatous polyposis12.3
4adenomas, multiple colorectal11.3
5adenomatous polyposis coli11.3
6familial adenomatous polyposis11.3
7malignant hyperthermia susceptibility10.4APC, MUTYH
8gastric cancer, somatic10.4APC, MUTYH
9glomerulosclerosis, focal segmental, 710.3APC, MUTYH
10desmoid disease, hereditary10.3APC, MUTYH
11cecum lymphoma10.2MSH2, MUTYH
12large intestine adenocarcinoma10.2MSH2, MSH6
13neuropathy, distal hereditary motor, type viib10.2MSH2, MSH6
14periapical granuloma10.2MSH2, MUTYH
15spleen angiosarcoma10.2MSH2, MSH6
16food allergy10.1MSH2, MSH6
17subependymal glioma10.1MSH2, MSH6
18solitary bone cyst10.1MSH2, MSH6
19congenital hypomyelination neuropathy10.1MSH2, MUTYH
20optic papillitis10.1MSH2, MSH6
21neurofibromatosis-noonan syndrome10.0MSH2, MSH6
22gastric cancer10.0
23adenocarcinoma10.0
24adenoma10.0
25duodenitis10.0
26cerebellar disease10.0MSH2, MSH6
27gynecomastia9.9MUTYH, OGG1
28colver steer godman syndrome9.9APC, MSH2, MUTYH
29large intestine adenoma9.9APC, OGG1
30trachea sarcoma9.9MSH2, MSH6
31mismatch repair cancer syndrome9.8APC, MSH2, MSH6
32dysostosis9.8MSH2, MSH6
33prostate embryonal rhabdomyosarcoma9.8MSH2, MSH6
34lymphoplasmacytic lymphoma9.8MSH2, MSH6, MUTYH
35gallbladder papillomatosis9.8MSH2, MSH6, MUTYH
36in situ carcinoma9.7MSH2, MSH6
37y-linked disease9.5MSH2, MSH6
38hereditary essential tremor 59.4APC, MSH2, MSH6, MUTYH
39arrhythmogenic right ventricular cardiomyopathy9.4APC, MSH2, MSH6, MUTYH
40tumor predisposition syndrome9.4APC, MSH2, MSH6, MUTYH
41muscular dystrophy-dystroglycanopathy , type a, 29.4APC, MSH2, MSH6, MUTYH
42hidrocystoma8.6APC, MSH2, MSH6, MUTYH, OGG1
43acquired amegakaryocytic thrombocytopenia7.6APC, APEX1, MSH2, MSH6, MUTYH, NUDT1

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



Diseases related to attenuated familial adenomatous polyposis

Symptoms for Attenuated Familial Adenomatous Polyposis

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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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinPhase 492114-07-812560
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
2
SulindacPhase 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
3
erlotinib hydrochloridePhase 2793183319-69-9176871
Synonyms:
 
erlotinib hydrochloride
4
Vitamin ANutraceuticalPhase 245011103-57-4, 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
5COLANutraceuticalPhase 21824
6retinolNutraceuticalPhase 2450

Interventional clinical trials:

idNameStatusNCT IDPhase
1Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous PolyposisRecruitingNCT02175914Phase 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
4Non-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, Attenuated25
2 Attenuated Fap25 23 APC

Anatomical Context for Attenuated Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

34
Colon, Small intestine, Testes, Pancreas

Animal Models for Attenuated Familial Adenomatous Polyposis or affiliated genes

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MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053846.9APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
2MP:00020066.7APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
3MP:00053766.7APC, APEX1, MSH2, MSH6, MUTYH, NUDT1

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
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. (24790607)
2014
3
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. (24549056)
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
American founder mutation for attenuated familial adenomatous polyposis. (18063416)
2008
14
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
15
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
17
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
18
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
19
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
20
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
21
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
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
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. (16461775)
2006
24
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
25
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
26
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
27
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
28
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
29
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
30
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
31
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
32
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. (12135043)
2002
33
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
34
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
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
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
39
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
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 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4MSH2, MSH6
29.4MSH2, MSH6
3
Show member pathways
9.3APEX1, MSH2
4
Show member pathways
9.2MUTYH, OGG1
59.1APC, MSH2, MSH6
6
Show member pathways
9.1APC, MSH2, MSH6
79.1APC, MSH2, MSH6
8
Show member pathways
8.6APEX1, MUTYH, OGG1
98.4APEX1, MSH2, MSH6, MUTYH
10
Show member pathways
8.0APEX1, MSH2, MSH6, OGG1
11
Show member pathways
7.6APEX1, MSH2, MSH6, MUTYH, OGG1

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
1MutSalpha complexGO:003230110.2MSH2, MSH6
2nucleoplasmGO:00056547.2APC, APEX1, MSH2, MSH6, MUTYH, OGG1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:000071010.1MSH2, MSH6
2somatic hypermutation of immunoglobulin genesGO:001644610.1MSH2, MSH6
3somatic recombination of immunoglobulin gene segmentsGO:001644710.1MSH2, MSH6
4determination of adult lifespanGO:000834010.0MSH2, MSH6
5maintenance of DNA repeat elementsGO:004357010.0MSH2, MSH6
6negative regulation of DNA recombinationGO:004591010.0MSH2, MSH6
7isotype switchingGO:00451909.9MSH2, MSH6
8positive regulation of helicase activityGO:00510969.9MSH2, MSH6
9depurinationGO:00450079.9MUTYH, OGG1
10intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.9MSH2, MSH6
11reciprocal meiotic recombinationGO:00071319.7MSH2, MSH6
12mismatch repairGO:00062989.6MSH2, MSH6, MUTYH
13base-excision repairGO:00062849.3APEX1, OGG1
14response to oxidative stressGO:00069799.1MUTYH, NUDT1, OGG1
15cellular response to DNA damage stimulusGO:00069749.0APC, MSH2, OGG1
16agingGO:00075688.7APEX1, NUDT1, OGG1
17response to drugGO:00424938.7APC, APEX1, OGG1
18DNA repairGO:00062817.4APEX1, MSH2, MSH6, MUTYH, NUDT1, OGG1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:003213710.2MSH2, MSH6
2single thymine insertion bindingGO:003214310.2MSH2, MSH6
3single guanine insertion bindingGO:003214210.2MSH2, MSH6
4mismatched DNA bindingGO:003098310.1MSH2, MSH6
5DNA N-glycosylase activityGO:00191049.9MUTYH, OGG1
6ADP bindingGO:00435319.9MSH2, MSH6
7four-way junction DNA bindingGO:00004009.8MSH2, MSH6
8MutLalpha complex bindingGO:00324059.6MSH2, MSH6, MUTYH
9oxidized purine DNA bindingGO:00323579.3MSH2, MSH6, OGG1
10endonuclease activityGO:00045199.1APEX1, OGG1
11damaged DNA bindingGO:00036848.4APEX1, MSH2, MSH6, OGG1
12DNA bindingGO:00036777.6APEX1, MSH2, MSH6, MUTYH, OGG1

Sources for Attenuated Familial Adenomatous Polyposis

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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