MCID: ATT003
MIFTS: 41

Attenuated Familial Adenomatous Polyposis malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

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Sources:
45NIH Rare Diseases, 51Orphanet, 22GeneTests, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 45 51
Attenuated Fap 45 22 51 24
Attenuated Adenomatous Polyposis Coli 45 22 24
Attenuated Familial Polyposis Coli 45 51
Aapc 45 22
 
Afap 45 51
Familial Adenomatous Polyposis, Attenuated 65
Adenomatous Polyposis Coli, Attenuated 65
Hereditary Flat Adenoma Syndrome 22
Mild Form of Fap 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
attenuated fap:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult


External Ids:

Orphanet51 220460
ICD10 via Orphanet28 D12.6
MESH via Orphanet37 C538265
UMLS via Orphanet66 C2674616

Summaries for Attenuated Familial Adenomatous Polyposis

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NIH Rare Diseases:45 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 adenomatous polyposis coli and muir-torre syndrome. An important gene associated with Attenuated Familial Adenomatous Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and DNA damage_Role of Brca1 and Brca2 in DNA repair. Affiliated tissues include colon, small intestine and testes, and related mouse phenotypes are mortality/aging and cellular.

Wikipedia:68 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:

Mutyh-Related Attenuated Familial Adenomatous Polyposis Apc-Related Attenuated Familial Adenomatous Polyposis
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 47)
idRelated DiseaseScoreTop Affiliating Genes
1adenomatous polyposis coli31.0APC, MUTYH
2muir-torre syndrome30.4MSH2, MSH6, MUTYH
3colorectal cancer29.6APC, MSH2, MSH6, MUTYH, OGG1
4familial adenomatous polyposis11.2
5mutyh-related attenuated familial adenomatous polyposis10.6
6apc-related attenuated familial adenomatous polyposis10.6
7axin2-related attenuated familial adenomatous polyposis10.6
8gastric cancer10.3
9duodenitis10.3
10adenocarcinoma10.3
11adenoma10.3
12cataract - intellectual disability - hypogonadism10.2APC, MUTYH
13myh9-related disorders10.2APC, MUTYH
14gastric cancer, somatic10.2APC, MUTYH
15ectodermal dysplasia10.1
16gastrointestinal system cancer10.1APC, MUTYH
17cecal disease10.1MSH2, MUTYH
18colonic disease10.1APC, MUTYH
19neurofibromatosis, familial spinal10.1APC, MSH6
20phlebotomus fever10.1MSH2, MUTYH
21hyperinsulinism-hyperammonemia syndrome10.1APC, MUTYH
22doyne honeycomb degeneration of retina10.1MSH2, MSH6
23sarcomatosis of the meninges10.1MSH2, MSH6
24nipah virus disease10.1MSH2, MSH6
25pancreatic serous cystadenoma10.1MSH2, MSH6
26pediatric liposarcoma10.1MSH2, MSH6
27breast signet ring cell adenocarcinoma10.0MSH2, MSH6
28small non-cleaved cell lymphoma10.0MSH2, MSH6
29achondrogenesis10.0MSH2, MSH6
30childhood brain stem glioma10.0APEX1, MSH2
31familial congenital fourth cranial nerve palsy10.0APC, MSH2, MUTYH
32intestinal disease10.0APC, MSH2, MUTYH
33common variable immunodeficiency10.0APC, MSH2, MUTYH
34skin glomangioma10.0MSH2, MSH6
35small intestine carcinoid neuroendocrine tumor10.0APC, OGG1
36adenomyoma of uterine corpus10.0APC, MSH2, MUTYH
37smallpox10.0MSH2, MSH6
38mismatch repair cancer syndrome9.9APC, MSH2, MSH6
39female reproductive system disease9.9MSH2, MSH6
40cell type cancer9.9APC, MUTYH
41hereditary congenital ptosis9.8APC, MSH2, MSH6, MUTYH
42large intestine lipoma9.8APC, MSH2, MSH6, MUTYH
43gastrointestinal system disease9.8APC, MSH2, MSH6, MUTYH
44muscular dystrophy-dystroglycanopathy , type a, 29.8APC, MSH2, MSH6, MUTYH
45restless legs syndrome9.6APC, MSH2, MSH6, MUTYH, NUDT1
46macrocytic anemia9.4APC, MSH2, MSH6, MUTYH, OGG1
47atypical mole syndrome9.0APC, 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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinapprovedPhase 485114-07-812560
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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
2Erythromycin EthylsuccinatePhase 485
3Erythromycin stearatePhase 485
4Erythromycin EstolatePhase 485
5
SulindacapprovedPhase 23538194-50-25352, 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
6
Erlotinibapproved, investigationalPhase 2759183321-74-6176870, 176871
Synonyms:
183321-74-6
4-[(3-Ethynylphenyl)amino]-6,7-bis(2-methoxyethoxy)quinazoline
774
AB1004620
AC-399
AC1L42EI
AKOS000282911
AQ4
BCB03_000783
C400278
CHEBI:114785
CHEMBL553
CID176870
CP 358,774
CP-258
CP-358,774
CP-358774
DB00530
EN002711
Erlotinib
Erlotinib Base
Erlotinib Hydrochloride
Erlotinib(Tarceva)
Erlotinib, OS-774
 
Erlotinin
FT-0083688
HMS2089F05
I01-1241
K00241
Kinome_3317
LS-184395
MolPort-003-847-084
N-(3-Ethynylphenyl)-6,7-bis(2-methoxyethoxy)-4-quinazolinamine
N-(3-Ethynylphenyl)-6,7-bis(2-methoxyethoxy)quinazolin-4-amine
NCGC00164574-01
NSC 718781
OSI 744
OSI-774
R 1415
SR-05000001460
SR-05000001460-2
STK623143
Tarceva
UNII-J4T82NDH7E
ZINC01546066
[6,7-BIS(2-METHOXY-ETHOXY)QUINAZOLINE-4-YL]-(3-ETHYNYLPHENYL)AMINE
[6,7-Bis-(2-methoxy-ethoxy)-quinazolin-4-yl]-(3-ethynyl-phenyl)-amine
erlotinib
n-(3-ethynylphenyl)[6,7-bis(2-methoxyethoxy)quinazolin-4-yl]amine
nchembio866-comp3
7
Vitamin Aapproved, nutraceuticalPhase 238611103-57-4, 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
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-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
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
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 A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
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
8Retinol palmitatePhase 2386
9ColaNutraceuticalPhase 21690
10retinolNutraceuticalPhase 2386

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 PatientsActive, not recruitingNCT01187901Phase 2

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 Attenuated Fap22 24
2 Adenomatous Polyposis Coli, Attenuated24

Anatomical Context for Attenuated Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.3APC, APEX1, MSH2, MSH6, MUTYH, OGG1
2MP:00053846.9APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
3MP:00020066.6APC, APEX1, MSH2, MSH6, MUTYH, NUDT1
4MP:00053766.4APC, APEX1, MSH2, MSH6, MUTYH, NUDT1

Publications for Attenuated Familial Adenomatous Polyposis

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Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 42)
idTitleAuthorsYear
1
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. (24790607)
2014
2
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. (24549056)
2014
3
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. (23423322)
2013
4
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. (23244118)
2012
5
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. (21813337)
2012
6
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (21815886)
2011
7
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. (21375864)
2011
8
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
9
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
10
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. (21078199)
2010
11
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
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
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
15
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
17
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
18
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
19
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
20
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
2006
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
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
24
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
25
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
26
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
27
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
28
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
29
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
30
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
31
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
2002
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
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? (12164972)
2002
34
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
35
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. (11321399)
2001
36
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. (11766074)
2001
37
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
38
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
2000
39
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. (10494086)
1999
40
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. (9603437)
1998
41
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
42
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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Clinvar genetic disease variations for Attenuated Familial Adenomatous Polyposis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MUTYHundetermined variantPathogenic
2MUTYHNM_001128425.1(MUTYH): c.504+2T> Gsingle nucleotide variantLikely pathogenicrs587782730GRCh38Chr 1, 45332916: 45332916
3MUTYHNM_001128425.1(MUTYH): c.389-2A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr 1, 45798844: 45798844
4MUTYHNM_001128425.1(MUTYH): c.1214_1224delCGTCCGTGACC (p.Pro405Leufs)deletionPathogenicGRCh37Chr 1, 45797191: 45797201
5MUTYHNM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter)single nucleotide variantPathogenicGRCh37Chr 1, 45796856: 45796856
6MUTYHNM_001128425.1(MUTYH): c.349-?_*(1_?)deldeletionPathogenicGRCh37Chr 1, 45794977: 45798996
7MUTYHNM_001128425.1(MUTYH): c.348+33_*210delinsTAindelPathogenicGRCh38Chr 1, 45329096: 45333380
8MUTYHNM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp)single nucleotide variantPathogenicrs200844166GRCh37Chr 1, 45796912: 45796912
9MUTYHNM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs)deletionPathogenicrs587776618GRCh37Chr 1, 45796869: 45796869
10MUTYHNM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter)single nucleotide variantPathogenicrs121908381GRCh37Chr 1, 45796892: 45796892

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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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:003230110.1MSH2, MSH6
2nuclear chromosomeGO:000022810.0MSH2, MSH6
3nucleoplasmGO:00056547.2APC, APEX1, MSH2, MSH6, MUTYH, OGG1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:000071010.0MSH2, MSH6
2somatic recombination of immunoglobulin gene segmentsGO:001644710.0MSH2, MSH6
3positive regulation of helicase activityGO:005109610.0MSH2, MSH6
4negative regulation of DNA recombinationGO:004591010.0MSH2, MSH6
5somatic hypermutation of immunoglobulin genesGO:001644610.0MSH2, MSH6
6maintenance of DNA repeat elementsGO:004357010.0MSH2, MSH6
7depurinationGO:00450079.8MUTYH, OGG1
8determination of adult lifespanGO:00083409.8MSH2, MSH6
9base-excision repair, AP site formationGO:00062859.8MUTYH, OGG1
10isotype switchingGO:00451909.8MSH2, MSH6
11intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7MSH2, MSH6
12reciprocal meiotic recombinationGO:00071319.5MSH2, MSH6
13mismatch repairGO:00062989.0APEX1, MSH2, MSH6, MUTYH
14cellular response to DNA damage stimulusGO:00069748.7APC, MSH2, OGG1
15base-excision repairGO:00062848.6APEX1, MUTYH, OGG1
16DNA repairGO:00062816.9APEX1, 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
1guanine/thymine mispair bindingGO:00321379.9MSH2, MSH6
2single guanine insertion bindingGO:00321429.9MSH2, MSH6
3single thymine insertion bindingGO:00321439.9MSH2, MSH6
4mismatched DNA bindingGO:00309839.8MSH2, MSH6
5ADP bindingGO:00435319.6MSH2, MSH6
6MutLalpha complex bindingGO:00324059.4MSH2, MSH6, MUTYH
7four-way junction DNA bindingGO:00004009.3MSH2, MSH6
8endonuclease activityGO:00045199.2APEX1, OGG1
9DNA-dependent ATPase activityGO:00080949.1MSH2, MSH6
10oxidized purine DNA bindingGO:00323579.0MSH2, MSH6, OGG1
11damaged DNA bindingGO:00036848.0APEX1, MSH2, MSH6, OGG1

Sources for Attenuated Familial Adenomatous Polyposis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet