Aliases & Classifications for Imperforate Anus

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Aliases & Descriptions for Imperforate Anus:

Name: Imperforate Anus 11 46 13
Anal Atresia 11 46 25
Anus, Imperforate 37 66
Anal Stenosis 46 25
 
Congenital or Infantile Occlusion of Anus 11
Congenital Atresia of Anus 11
Anorectal Malformations 46
Imperforate Anus Nos 11

Characteristics:

HPO:

62


Classifications:



External Ids:

Disease Ontology11 DOID:10488
ICD1028 Q42.3
MeSH37 D001006
NCIt43 C84784

Summaries for Imperforate Anus

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NIH Rare Diseases:46 Imperforate anus is a defect that is present from birth (congenital). the opening to the anus is missing or blocked. the anus is the opening to the rectum through which stools leave the body. imperforate anus may end in a pouch, or open in other structures or be too narrow (stenotic or atresic).although the exact cause is not fully understood, it is believed to be due to the abnormal development of the rectum when the embryo is forming inside the womb. many forms of imperforate anus occur with other birth defects. symptoms include absence of the first stools within 24 to 48 hours after birth, anal opening in an abnormal place, with stool passing out of the vagina, base of penis, scrotum, or urethra very near the vagina, and swollen belly area. surgery to correct the defect is needed. last updated: 7/27/2016

MalaCards based summary: Imperforate Anus, also known as anal atresia, is related to omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex and chondrodysplasia situs inversus imperforate anus polydactyly, and has symptoms including anal atresia, hypospadias and hearing impairment. An important gene associated with Imperforate Anus is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways are Transcriptional regulation of pluripotent stem cells and Notch-mediated HES/HEY network. Affiliated tissues include colon, kidney and spinal cord, and related mouse phenotypes are muscle and cellular.

Wikipedia:69 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

Related Diseases for Imperforate Anus

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Diseases related to Imperforate Anus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.4
2chondrodysplasia situs inversus imperforate anus polydactyly12.3
3high anorectal malformation12.2
4low anorectal malformation12.2
5ankyloblepharon filiforme imperforate anus12.2
6intermediate anorectal malformation12.2
7isolated anorectal malformation12.2
8diphallus rachischisis imperforate anus12.1
9cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction12.1
10deafness nephritis anorectal malformation12.0
11anal atresia, hypospadias, and penoscrotal inversion12.0
12spondylocostal dysostosis with anal atresia and urogenital anomalies12.0
13cataract-intellectual disability-anal atresia-urinary defects syndrome12.0
14townes-brocks syndrome11.9
15pallister-hall syndrome11.8
16oeis complex11.7
17currarino triad11.6
18bifid nose with or without anorectal and renal anomalies11.4
19focal segmental glomerulosclerosis11.3
20karandikar maria kamble syndrome11.0
21sirenomelia10.7
22omphalocele10.6
23blepharocheilodontic syndrome10.6
24sacrococcygeal teratoma10.6
25urethritis10.5
26polydactyly10.4
27vaginitis10.4
28pseudohypoparathyroidism ia10.4SALL1, SALL4
29secondary progressive multiple sclerosis10.4MID1, SPECC1L
30microphthalmia, isolated 110.3SALL1, SALL4
31adenocarcinoma10.3
32stuttering, familial persistent, 410.3SALL1, SALL4
33esophageal atresia10.3
34esophagitis10.3
35fecal incontinence10.3
36opitz gbbb syndrome, type i10.2
37exstrophy of bladder bladder exstrophy and epispadias complex, included10.2
38hypospadias10.2
39manitoba oculotrichoanal syndrome10.2
40colonic atresia10.1
41meningocele10.1
42exstrophy of the bladder10.1
43posterior urethral valves10.1
44tracheoesophageal fistula10.1
45johanson-blizzard syndrome10.1
46duane-radial ray syndrome10.1
47ivic syndrome10.1
48opitz gbbb syndrome, type ii10.1
49opitz-gbbb syndrome10.1
50cryptorchidism10.1

Graphical network of the top 20 diseases related to Imperforate Anus:



Diseases related to imperforate anus

Symptoms for Imperforate Anus

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HPO human phenotypes related to Imperforate Anus:

id Description Frequency HPO Source Accession
1 anal atresia HP:0002023
2 hypospadias HP:0000047
3 hearing impairment HP:0000365
4 ectopic anus HP:0004397

Drugs & Therapeutics for Imperforate Anus

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Drugs for Imperforate Anus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1FolateNutraceuticalPhase 34143
2
Folic AcidNutraceuticalPhase 3414359-30-36037
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
3
Remifentanil430132875-61-760815
Synonyms:
1-Piperidinepropanoic acid, 4-(methoxy-carbonyl)-4-((1-oxopropyl)phenylamino)-, methyl ester
132539-07-2 (mono-hydrochloride)
132875-61-7
3-(4-methoxycarbonyl-4-((1-oxopropyl)phenylamino)-1-piperidine)propanoic acid methyl ester
4-carboxy-4-(n-phenylpropionamido)-1-piperidinepropionic acid dimethyl ester
AC1L1TZ8
AC1Q5ZGR
BIDD:GT0029
C08021
CHEBI:8802
CHEMBL1005
CID60815
D08473
DB00899
 
DEA No. 9739
GI 87084B
GI 87084X
GI87084B
L001266
LS-115982
MolPort-004-286-006
REMIFENTANIL
Remifentanil (INN)
Remifentanil [INN:BAN]
Remifentanyl
UNII-P10582JYYK
Ultiva
Ultiva (TN)
methyl 1-(3-methoxy-3-oxopropyl)-4-(N-propanoylanilino)piperidine-4-carboxylate
4
Ropivacaine70984057-95-471273, 175805
Synonyms:
(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide
(2S)-N-(2,6-dimethylphenyl)-1-propylpiperidine-2-carboxamide hydrochloride
(S)-(−)-1-propyl-2',6'-pipecoloxylidide
(S)-ropivacaine
84057-95-4
98717-15-8
AC1L41QM
AC1L41QN
BIDD:GT0203
C07532
C17H26N2O.HCl
CHEBI:8890
CHEMBL1077896
CID175804
CID175805
CPD000469137
D08490
I14-176
L-N-n-propylpipecolic acid-2,6-xylidide
LS-113954
 
MLS001401363
MolPort-003-983-292
NCGC00164597-01
Naropin
Naropin (TN)
ROPIVACAINE HCl
Ropivacaina
Ropivacaina [INN-Spanish]
Ropivacaina [Spanish]
Ropivacaine
Ropivacaine [INN]
Ropivacaine hydrochloride
Ropivacaine monohydrochloride
Ropivacainum
Ropivacainum [INN-Latin]
S-Ropivacaine
SAM001246524
SMR000469137
ST51051452
ropivacaine monohydrochloride,
ropivacaine monohydrochloride, (S)-isomer
5
Lidocaine1168137-58-63676
Synonyms:
.alpha.-(Diethylamino)-2,6-acetoxylidide
.alpha.-Diethylamino-2,6-dimethylacetanilide
.alpha.-Diethylaminoaceto-2,6-xylidide
.omega.-Diethylamino-2,6-dimethylacetanilide
137-58-6
2-(Diethylamino)-2',6'-acetoxylidide
2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide
2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide
2-Diethylamino-N-(2,6-dimethylphenyl)acetamide
4-12-00-02538 (Beilstein Handbook Reference)
6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))
6108-05-0 (mono-hydrochloride, mono-hydrate)
73-78-9 (mono-hydrochloride)
AB00053581
AC-10282
AC1L1GGQ
AC1Q2Z7J
AKOS001026768
ARONIS23855
After Burn Double Strength Gel
After Burn Double Strength Spray
After Burn Gel
After Burn Spray
Alphacaine
Anestacon
Anestacon Jelly
BIDD:GT0342
BPBio1_000197
BRD-K52662033-001-02-6
BRD-K52662033-003-05-5
BRN 2215784
BSPBio_000179
BSPBio_001359
BSPBio_003004
Bio-0767
Bio1_000379
Bio1_000868
Bio1_001357
Bio2_000079
Bio2_000559
C07073
C14H22N2O
CAS-73-78-9
CDS1_000283
CHEBI:6456
CHEMBL79
CID3676
CPD000058189
Cappicaine
Cito optadren
Cuivasil
D00358
DB00281
Dalcaine
Dentipatch
Dentipatch (TN)
DermaFlex
Diethylaminoaceto-2,6-xylidide
Dilocaine
DivK1c_000174
DivK1c_001323
Duncaine
EINECS 205-302-8
ELA-Max
EMBOLEX
Emla
Emla Cream
Esracaine
FT-0082378
Gravocain
HMS1791D21
HMS1989D21
HMS2051C21
HMS2089E15
HMS548M19
HSDB 3350
I01-2704
IDI1_000174
IDI1_033829
Isicaina
Isicaine
Jetocaine
KBio1_000174
KBio2_000079
KBio2_001598
KBio2_002647
KBio2_004166
KBio2_005215
KBio2_006734
KBio3_000157
KBio3_000158
KBio3_002224
KBioGR_000079
KBioGR_000599
KBioSS_000079
KBioSS_001598
L-Caine
L0156
L1026_SIGMA
L7757_SIGMA
LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)
LIDOPEN
LQZ
 
LS-805
Lanabiotic
Leostesin
Lida-Mantle
Lidocaina
Lidocaina [INN-Spanish]
Lidocaine (JP15/USP/INN)
Lidocaine (VAN)
Lidocaine Carbonate
Lidocaine Hydrocarbonate
Lidocaine Monohydrochloride
Lidocaine [USAN:INN:JAN]
Lidocainum
Lidocainum [INN-Latin]
Lidocaton
Lidoderm
Lidoject-1
Lidoject-2
Lignocaine
Lignocainum
Lingocaine
Lopac-L-5647
Lopac0_000669
MLS000069724
MLS000758263
MLS001074177
Maricaine
Maybridge1_002571
MolPort-001-783-478
N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide
N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide
NCGC00015611-01
NCGC00015611-02
NCGC00015611-03
NCGC00015611-04
NCGC00015611-14
NCGC00022176-05
NCGC00022176-06
NCGC00022176-07
NCGC00022176-08
NCGC00022176-09
NINDS_000174
NSC 40030
NSC40030
Norwood Sunburn Spray
Octocaine
Octocaine-100
Octocaine-50
Prestwick0_000050
Prestwick1_000050
Prestwick2_000050
Prestwick3_000050
Remicaine
Rocephin Kit
Rucaina
S1357_Selleck
SAM001247018
SMR000058189
SPBio_001525
SPBio_002100
STK552033
Solarcaine
Solarcaine aloe extra burn relief cream
Solcain
Spectrum2_001343
Spectrum3_001392
Spectrum4_000070
Spectrum5_001549
Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Xilina
Xilocaina
Xilocaina [Italian]
Xllina
Xycaine
Xylestesin
Xylesthesin
Xylocain
Xylocaine
Xylocaine (TN)
Xylocaine 5% Spinal
Xylocaine CO2
Xylocaine Dental Ointment
Xylocaine Endotracheal
Xylocaine Test Dose
Xylocaine Viscous
Xylocaine-MPF
Xylocaine-MPF with Glucose
Xylocaine-Mpf
Xylocaine-Mpf with Glucose
Xylocard
Xylocitin
Xyloneural (free base)
Xylotox
Zilactin-L
Zingo
alfa-Dietilamino-2,6-dimetilacetanilide
alfa-Dietilamino-2,6-dimetilacetanilide [Italian]
alpha-Diethylamino-2,6-dimethylacetanilide
alpha-diethylamino-2,6-dimethylacetanilide
lidocaine
nchembio.65-comp16
α-diethylamino-2,6-dimethylacetanilide
6lysineNutraceutical81
7COLANutraceutical1824

Interventional clinical trials:

idNameStatusNCT IDPhase
1HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized TrialRecruitingNCT02216305Phase 4
2Folic Acid Dosage and Malformations ReductionActive, not recruitingNCT01244347Phase 3
3Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplastyRecruitingNCT02161003Phase 1, Phase 2
4Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V AnoplastyCompletedNCT00883571
5National Study on the Quality of Life of Patients With Anorectal MalformationCompletedNCT02029248
6Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord AbnormalitiesCompletedNCT00909415
7Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
8Ligasure Versus Diathermy Haemorrhoidectomy Under Local AnesthesiaCompletedNCT00617448
93D High Resolution Anorectal Manometry in Children After Surgery for Anorectal DisordersRecruitingNCT02296008
10Long-term Outcome in Patients With Anorectal MalformationsNot yet recruitingNCT02624232

Search NIH Clinical Center for Imperforate Anus


Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Imperforate Anus

About this section

Genetic tests related to Imperforate Anus:

id Genetic test Affiliating Genes
1 Anal Atresia25
2 Anal Stenosis25

Anatomical Context for Imperforate Anus

About this section

MalaCards organs/tissues related to Imperforate Anus:

34
Colon, Kidney, Spinal cord, Testis, Heart, Skin, Uterus

Animal Models for Imperforate Anus or affiliated genes

About this section

MGI Mouse Phenotypes related to Imperforate Anus:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2MID1, MNX1, MSX2, RUNX2, TWIST1
2MP:00053847.7CBFB, MNX1, RECQL4, RUNX2, SALL1, SALL4
3MP:00053917.7CBFB, MSX2, RECQL4, RUNX2, SALL4
4MP:00053827.6CBFB, MSX2, RECQL4, RUNX2, SALL4, TWIST1
5MP:00053807.4CBFB, MID1, MSX2, RECQL4, SALL1, SALL4
6MP:00053857.1CBFB, MNX1, MSX2, RUNX2, SALL1, SALL4
7MP:00036316.8CBFB, MID1, MNX1, MSX2, RUNX2, SALL1
8MP:00053816.8CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
9MP:00053716.6CBFB, MSX2, RECQL4, RUNX2, SALL1, SALL4
10MP:00053906.5CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
11MP:00107686.3CBFB, MID1, MNX1, MSX2, RECQL4, RUNX2
12MP:00053786.1CBFB, MID1, MNX1, MSX2, RECQL4, RUNX2

Publications for Imperforate Anus

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Articles related to Imperforate Anus:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. (27138641)
2016
2
Mode of delivery in a woman with previous surgery for imperforate anus. (24484400)
2014
3
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. (24285853)
2013
4
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
5
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
6
Intraoperative measurement of rectourethral fistula: prevention of incomplete excision in male patients with high-/intermediate-type imperforate anus. (20152360)
2010
7
Neuro-orthopedic manifestations of the omphalocele exstrophy imperforate anus spinal defects complex. (20728185)
2010
8
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. (20101698)
2010
9
VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum presenting with portal hypertension: a case report. (20444267)
2010
10
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
11
Is intraoperative anal endosonography necessary during laparoscopy-assisted anorectoplasty for high/intermediate type imperforate anus? (18266590)
2008
12
Procedure for prolapsed hemorrhoids for treatment of rectal mucosa prolapse following anorectoplasty for imperforate anus. (18481506)
2008
13
Fetal megalourethra associated with hypoplastic left heart and imperforate anus: a previously unreported association. (18049081)
2008
14
Malone antegrade continence enema (MACE) for fecal incontinence in imperforate anus improves quality of life. (17938937)
2007
15
Transperineal sonography for determination of the type of imperforate anus. (18029895)
2007
16
A case of acrocephalosyndactyly with low imperforate anus. (14694405)
2004
17
Earlier appearance and higher incidence of the rectoanal relaxation reflex in patients with imperforate anus repaired with laparoscopically assisted anorectoplasty. (12915967)
2003
18
Treatment of high imperforate anus with large omphalocele in a baby boy. (12194138)
2002
19
Aspermia and chronic testicular pain after imperforate anus correction. Cryopreservation of sperm cells extracted from whole orchiectomized testis: case report. (12407052)
2002
20
A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition. (11675686)
2001
21
Three-flap anoplasty for imperforate anus: results for primary procedure or for redoes. (11719868)
2001
22
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. (10955487)
2000
23
Laparoscopically assisted anorectal pull-through for high imperforate anus--a new technique. (10873037)
2000
24
The anterior sagittal approach for high imperforate anus: a simplification of the Mollard approach. (9574780)
1998
25
Association of imperforate anus with occult spinal dysraphism. (7472922)
1995
26
Male infertility after surgery for imperforate anus. (8749922)
1995
27
Anterior sagittal anorectoplasty as a redo operation for imperforate anus. (8229572)
1993
28
The use of a long split rectal tube to aid in pull-through procedures for imperforate anus. (8437079)
1993
29
High and intermediate imperforate anus: results after surgical correction with special respect to internal sphincter function. (1564616)
1992
30
Application of ultrasonography in the evaluation of imperforate anus. (1841066)
1991
31
Preservation of infralevator structures in imperforate anus repair. (2809947)
1989
32
Short-term v long-term quality of life in children following repair of high imperforate anus. (3612451)
1987
33
Assessment of the percentages of maximum static pressure in the anal canal for postoperative continence in patients with imperforate anus. (3682430)
1987
34
The genitourinary system in patients with imperforate anus. (3440894)
1987
35
Challenges in imperforate anus: II--Large rectovaginal defects: colonic vaginoanoplasty. (3435020)
1987
36
Imperforate anus. Diagnosis and surgical treatment. (3852660)
1985
37
Primary pull-through as definitive treatment of short colon associated with imperforate anus. (6576773)
1983
38
Primary vesicoureteric reflux in neonates with imperforate anus. (7377836)
1980
39
Imperforate anus: an analysis of mortalities during a 25-year period. (523650)
1979
40
Surgical treatment of high imperforate anus with definition of the puborectalis sling by an anterior perineal approach. (712525)
1978
41
Imperforate anus combined with esophageal atresia and agenesis of the right kidney. A case report. (4812382)
1974
42
Renal tract disease in imperforate anus. (4825791)
1974
43
Rectovaginal fistula and imperforate anus in a dog. (5105716)
1971
44
Congenital hydrocolpos, hydrometra and hydrosalpinx with imperforate anus. (5425314)
1970
45
Imperforate anus: anorectosigmoid pressure studies as a quantitative evaluation of postoperative continence. (5371098)
1969
46
Primary aganglionosis associated with imperforate anus. Review of the literature pertinent to one observation. (5803825)
1969
47
Congenital imperforate anus and recto-urethral fistula. I. (13872974)
1962
48
Imperforate anus associated with urinary tract fistula. (13037058)
1953
49
Seven cases of imperforate anus treated by the abdominoperineal placement of the rectum. (13079517)
1953
50
Exstrophy of the bladder with imperforate anus, absence of the greater part of the small and large intestines, continuity of the duodenum with the colon, absence of the left testis, epididymis and cord, and enormous hydroureter. (19970406)
1938

Variations for Imperforate Anus

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Expression for genes affiliated with Imperforate Anus

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Search GEO for disease gene expression data for Imperforate Anus.

Pathways for genes affiliated with Imperforate Anus

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Pathways related to Imperforate Anus according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8SALL1, SALL4
29.3RUNX2, TWIST1

GO Terms for genes affiliated with Imperforate Anus

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Cellular components related to Imperforate Anus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:000079210.2SALL1, SALL4
2nucleusGO:00056346.5CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1

Biological processes related to Imperforate Anus according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.3SALL1, TWIST1
2ventricular septum developmentGO:000328110.2SALL1, SALL4
3somatic stem cell population maintenanceGO:003501910.2SALL1, SALL4
4cell maturationGO:00484699.9CBFB, RUNX2
5cranial suture morphogenesisGO:00603639.8MSX2, TWIST1
6embryonic cranial skeleton morphogenesisGO:00487019.7RUNX2, TWIST1
7odontogenesisGO:00424769.7MSX2, TWIST1
8stem cell differentiationGO:00488639.7MSX2, RUNX2
9embryonic hindlimb morphogenesisGO:00351169.6MSX2, TWIST1
10osteoblast developmentGO:00020769.6MSX2, RUNX2
11chondrocyte developmentGO:00020639.6MSX2, RUNX2
12cellular response to growth factor stimulusGO:00713639.6MSX2, TWIST1
13positive regulation of osteoblast differentiationGO:00456699.4MSX2, RUNX2
14embryonic digit morphogenesisGO:00427339.4MSX2, SALL1, TWIST1
15embryonic limb morphogenesisGO:00303269.1MSX2, SALL4, TWIST1
16embryonic forelimb morphogenesisGO:00351159.0MSX2, RUNX2, TWIST1
17transcription from RNA polymerase II promoterGO:00063668.4CBFB, MSX2, RUNX2, SALL4
18osteoblast differentiationGO:00016498.3CBFB, MSX2, RUNX2, TWIST1
19ossificationGO:00015038.3CBFB, MSX2, RUNX2, TWIST1
20negative regulation of transcription, DNA-templatedGO:00458928.3MSX2, RUNX2, SALL1, TWIST1
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.2MSX2, SALL1, SALL4, TWIST1
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.1CBFB, RUNX2, SALL1, SALL4, TWIST1

Molecular functions related to Imperforate Anus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:00434259.9RUNX2, TWIST1
2transcription cofactor activityGO:00037129.5CBFB, MSX2
3sequence-specific DNA bindingGO:00435658.7MNX1, MSX2, SALL1, SALL4
4transcription regulatory region DNA bindingGO:00442128.6MSX2, RUNX2, SALL1, SALL4
5transcription factor activity, sequence-specific DNA bindingGO:00037007.7CBFB, MNX1, RUNX2, SALL1, SALL4, TWIST1

Sources for Imperforate Anus

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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