Aliases & Classifications for Imperforate Anus

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Aliases & Descriptions for Imperforate Anus:

Name: Imperforate Anus 11 48 13
Anal Atresia 11 48 27
Anus, Imperforate 39 68
Anal Stenosis 48 27
 
Congenital or Infantile Occlusion of Anus 11
Congenital Atresia of Anus 11
Anorectal Malformations 48
Imperforate Anus Nos 11

Characteristics:

HPO:

64

Classifications:



External Ids:

Disease Ontology11 DOID:10488
ICD1030 Q42.3
MeSH39 D001006
NCIt45 C84784

Summaries for Imperforate Anus

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NIH Rare Diseases:48 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 chondrodysplasia situs inversus imperforate anus polydactyly and omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex, 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 embryo.

Wikipedia:71 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 128)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia situs inversus imperforate anus polydactyly12.2
2omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.1
3high anorectal malformation12.1
4low anorectal malformation12.0
5ankyloblepharon filiforme imperforate anus12.0
6intermediate anorectal malformation12.0
7isolated anorectal malformation12.0
8diphallus rachischisis imperforate anus12.0
9townes-brocks syndrome12.0
10spondylocostal dysostosis with anal atresia and urogenital anomalies11.9
11cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction11.9
12deafness nephritis anorectal malformation11.9
13anal atresia, hypospadias, and penoscrotal inversion11.9
14cataract-intellectual disability-anal atresia-urinary defects syndrome11.9
15pallister-hall syndrome11.9
16oeis complex11.6
17bifid nose with or without anorectal and renal anomalies11.5
18blepharocheilodontic syndrome11.3
19currarino triad11.3
20sacrococcygeal teratoma11.2
21currarino syndrome11.2
22focal segmental glomerulosclerosis11.1
23opitz gbbb syndrome, type ii11.1
24opitz gbbb syndrome, type i11.1
25exstrophy of bladder bladder exstrophy and epispadias complex, included11.1
26manitoba oculotrichoanal syndrome11.1
27johanson-blizzard syndrome11.0
28duane-radial ray syndrome11.0
29ivic syndrome11.0
30axenfeld-rieger syndrome, type 110.9
31star syndrome10.9
32caudal regression syndrome10.9
33omphalocele10.5
34urethritis10.4
35pseudohypoparathyroidism ia10.4SALL1, SALL4
36secondary progressive multiple sclerosis10.4MID1, SPECC1L
37microphthalmia, isolated 110.3SALL1, SALL4
38stuttering, familial persistent, 410.3SALL1, SALL4
39polydactyly10.3
40vaginitis10.3
41adenocarcinoma10.2
42esophageal atresia10.2
43esophagitis10.2
44fecal incontinence10.1
45hypospadias10.1
46colonic atresia10.0
47meningocele10.0
48exstrophy of the bladder10.0
49posterior urethral valves10.0
50tracheoesophageal fistula10.0

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



Diseases related to imperforate anus

Symptoms & Phenotypes for Imperforate Anus

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Human phenotypes related to Imperforate Anus:

 64
id Description HPO Frequency HPO Source Accession
1 anal atresia64 HP:0002023
2 hypospadias64 HP:0000047
3 hearing impairment64 HP:0000365
4 ectopic anus64 HP:0004397

MGI Mouse Phenotypes related to Imperforate Anus according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8MID1, MNX1, MSX2, RUNX2, TWIST1
2MP:00053808.4CBFB, MID1, MSX2, RECQL4, SALL1, SALL4
3MP:00053828.2CBFB, MSX2, RECQL4, RUNX2, SALL4, TWIST1
4MP:00053717.9CBFB, MSX2, RECQL4, RUNX2, SALL1, SALL4
5MP:00053847.7CBFB, KIDINS220, MNX1, RECQL4, RUNX2, SALL1
6MP:00053817.6CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
7MP:00053857.5CBFB, KIDINS220, MNX1, MSX2, RUNX2, SALL1
8MP:00053907.4CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
9MP:00053917.2CBFB, KIDINS220, MSX2, RECQL4, RUNX2, SALL4
10MP:00036317.1CBFB, KIDINS220, MID1, MNX1, MSX2, RUNX2
11MP:00053786.7CBFB, KIDINS220, MID1, MNX1, MSX2, RECQL4
12MP:00107686.7CBFB, KIDINS220, MID1, MNX1, MSX2, RECQL4

Drugs & Therapeutics for Imperforate Anus

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approvedPhase 3427959-30-36037
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
2Vitamin B ComplexPhase 34229
3VitaminsPhase 35095
4Trace ElementsPhase 35802
5MicronutrientsPhase 35802
6HematinicsPhase 31630
7Folinic AcidNutraceuticalPhase 33150
8Vitamin B9NutraceuticalPhase 34279
9FolateNutraceuticalPhase 34279
10AnestheticsPhase 1, Phase 29001
11
Ropivacaineapproved74184057-95-471273, 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
12
Remifentanilapproved446132875-61-760815
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
13
Lidocaineapproved, vet_approved1226137-58-63676
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
14Pharmaceutical Solutions7793
15Anesthetics, Local3272
16Peripheral Nervous System Agents22776
17Central Nervous System Depressants12806
18lysineNutraceutical90
19ColaNutraceutical1881

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 ReductionUnknown statusNCT01244347Phase 3
3Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplastyUnknown statusNCT02161003Phase 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
6Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
7Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord AbnormalitiesCompletedNCT00909415
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 Atresia27
2 Anal Stenosis27

Anatomical Context for Imperforate Anus

About this section

MalaCards organs/tissues related to Imperforate Anus:

36
Colon, Kidney, Spinal cord, Testis, Heart, Skin, Uterus

Publications for Imperforate Anus

About this section

Articles related to Imperforate Anus:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. (27138641)
2016
2
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. (27236579)
2016
3
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. (26981954)
2016
4
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. (27080330)
2016
5
Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement. (27015939)
2016
6
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. (27160889)
2016
7
Imperforate Anus with Fistula Exiting at the Penile Skin. (27134930)
2016
8
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. (27896167)
2016
9
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. (27176040)
2016
10
Neonate with Imperforate Anus and Meconium Streak Along the Penile Shaft. (27450347)
2016
11
Sonographic Determination of Type in a Fetal Imperforate Anus. (27151904)
2016
12
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). (26651280)
2016
13
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. (25746703)
2015
14
Handle with care - "bucket handle" imperforate anus. (25662829)
2015
15
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. (26490998)
2015
16
Teaching NeuroImages: Short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? (25870458)
2015
17
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. (25861490)
2015
18
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. (26627524)
2015
19
Creation of a Neovagina in a Patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) Syndrome and Previously Corrected Rectovestibular Fistula Concomitant with Imperforate Anus. (25444054)
2015
20
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. (26279656)
2015
21
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. (25604768)
2015
22
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. (26072132)
2015
23
Mode of delivery in a woman with previous surgery for imperforate anus. (24484400)
2014
24
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. (24777351)
2014
25
An accessory limb with an imperforate anus. (25317418)
2014
26
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. (24882045)
2014
27
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (24703152)
2014
28
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. (24985112)
2014
29
Breast at back passage-neonatal central perineal accessory breast at the site of an imperforate anus. (24515240)
2014
30
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. (25088160)
2014
31
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. (24948350)
2014
32
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). (25400352)
2014
33
Hidden mortality of imperforate anus. (24647309)
2014
34
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. (25487490)
2014
35
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. (25003932)
2014
36
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. (24285853)
2013
37
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
38
Tailgut cyst in an infant with imperforate anus: a case report. (24800024)
2013
39
Laparoscopy-assisted surgery for male imperforate anus with rectourethral fistula. (23989601)
2013
40
Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus. (23108388)
2013
41
Rectocutaneous fistula with imperforate anus in an adult. (23624461)
2013
42
Congenital cardiac anomalies and imperforate anus: A hospital's experience. (24023469)
2013
43
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. (23950073)
2013
44
A newborn with caudal duplication and duplex imperforate anus. (23701807)
2013
45
The hidden mortality of imperforate anus. (24469477)
2013
46
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
47
Laparoscopically assisted sacroperitoneal pull-through for high imperforate anus: a new technique. (22311821)
2012
48
Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease. (23014387)
2012
49
Intraoperative colonoscopy facilitates safe dissection of the rectal pouch in a case of male imperforate anus. (22776365)
2012
50
Rectal cancer following abdomino-perineal pull-through for imperforate anus. (22568648)
2012

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
29.2RUNX2, 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:00007929.8SALL1, SALL4

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.5SALL1, TWIST1
2cranial suture morphogenesisGO:006036310.2MSX2, TWIST1
3embryonic hindlimb morphogenesisGO:003511610.2MSX2, TWIST1
4odontogenesisGO:004247610.1MSX2, TWIST1
5embryonic cranial skeleton morphogenesisGO:004870110.0RUNX2, TWIST1
6in utero embryonic developmentGO:00017019.9KIDINS220, SALL4, TWIST1
7cell maturationGO:00484699.9CBFB, RUNX2
8embryonic digit morphogenesisGO:00427339.9MSX2, SALL1, TWIST1
9ventricular septum developmentGO:00032819.8SALL1, SALL4
10embryonic limb morphogenesisGO:00303269.8MSX2, SALL4, TWIST1
11chondrocyte developmentGO:00020639.8MSX2, RUNX2
12osteoblast developmentGO:00020769.8MSX2, RUNX2
13stem cell differentiationGO:00488639.7MSX2, RUNX2
14negative regulation of transcription from RNA polymerase II promoterGO:00001229.5MSX2, SALL1, SALL4, TWIST1
15embryonic forelimb morphogenesisGO:00351159.3MSX2, RUNX2, TWIST1
16negative regulation of transcription, DNA-templatedGO:00458929.0MSX2, RUNX2, SALL1, TWIST1
17ossificationGO:00015038.8CBFB, MSX2, RUNX2, TWIST1
18osteoblast differentiationGO:00016498.8CBFB, MSX2, RUNX2, TWIST1
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.7CBFB, RUNX2, SALL1, SALL4, TWIST1
20transcription from RNA polymerase II promoterGO:00063668.6CBFB, MSX2, RUNX2, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:00434259.9RUNX2, TWIST1
2sequence-specific DNA bindingGO:00435659.6MNX1, MSX2, SALL1, SALL4
3transcription regulatory region DNA bindingGO:00442128.4MSX2, RUNX2, SALL1, SALL4
4transcription factor activity, sequence-specific DNA bindingGO:00037008.3CBFB, MNX1, RUNX2, SALL1, SALL4, TWIST1

Sources for Imperforate Anus

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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