Aliases & Classifications for Imperforate Anus

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Aliases & Descriptions for Imperforate Anus:

Name: Imperforate Anus 10 45 12
Anus, Imperforate 65 36
Infantile Occlusion of Anus 10
 
Congenital Atresia of Anus 10
Imperforate Anus Nos 10
Anal Atresia 10


Classifications:



External Ids:

Disease Ontology10 DOID:10488
NCIt42 C84784
MeSH36 D001006

Summaries for Imperforate Anus

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Wikipedia:68 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

MalaCards based summary: Imperforate Anus, also known as anus, imperforate, is related to ivic syndrome and baller-gerold syndrome, 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 is Notch-mediated HES/HEY network. Affiliated tissues include colon, kidney and heart, and related mouse phenotypes are muscle and vision/eye.

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 229)
idRelated DiseaseScoreTop Affiliating Genes
1ivic syndrome30.7SALL1, SALL4
2baller-gerold syndrome29.9MNX1, RECQL4, SALL1, TWIST1
3omphalocele exstrophy imperforate anus10.9
4omphalocele10.8
5urethritis10.7
6townes-brocks syndrome10.7
7polydactyly10.7
8vaginitis10.6
9adenocarcinoma10.6
10pallister-hall syndrome10.5
11esophageal atresia10.5
12esophagitis10.5
13ankyloblepharon filiforme imperforate anus10.5
14chondrodysplasia situs inversus imperforate anus polydactyly10.5
15cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.5
16fecal incontinence10.5
17hypospadias10.5
18diphallus rachischisis imperforate anus10.5
19sirenomelia10.5
20meningocele10.4
21colonic atresia10.4
22exstrophy of the bladder10.4
23tracheoesophageal fistula10.4
24prune belly syndrome10.3
25johanson-blizzard syndrome10.3
26cryptorchidism10.3
27cat eye syndrome10.3
28opitz gbbb syndrome, type i10.3
29focal segmental glomerulosclerosis10.3
30vacterl association10.3
31intestinal atresia10.3
32colon adenocarcinoma10.3
33hypopituitarism10.3
34cloacal exstrophy10.3
35limb-body wall complex10.3
36penoscrotal transposition10.3
37posterior urethral valves10.3
38renal dysplasia10.3
39vater association with macrocephaly and ventriculomegaly10.3
40vacterl association, x-linked10.3
41synostosis10.2
42microphthalmia, isolated 110.2SALL1, SALL4
43caudal regression syndrome10.2
44peters anomaly10.2
45ulna and fibula, absence of, with severe limb deficiency10.2
46c syndrome10.2
47treacher collins syndrome 110.2
48beckwith-wiedemann syndrome10.2
49tetralogy of fallot10.2
50nijmegen breakage syndrome10.2

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 x-linked inheritance HP:0001417
5 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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceuticalPhase 3285159-30-36037
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
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 32775
3Vitamin B9NutraceuticalPhase 32851
4Folinic AcidNutraceuticalPhase 32498
5FolateNutraceuticalPhase 32851
6lysineNutraceutical70

Interventional clinical trials:

idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionActive, not recruitingNCT01244347Phase 3
2Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplastyRecruitingNCT02161003Phase 1, Phase 2
3National Study on the Quality of Life of Patients With Anorectal MalformationCompletedNCT02029248
4Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord AbnormalitiesCompletedNCT00909415
5Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
6Long-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

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Anatomical Context for Imperforate Anus

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MalaCards organs/tissues related to Imperforate Anus:

33
Colon, Kidney, Heart, Testis, Uterus, Skin, Breast

Animal Models for Imperforate Anus or affiliated genes

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MGI Mouse Phenotypes related to Imperforate Anus:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1MID1, MNX1, MSX2, RUNX2, TWIST1
2MP:00053917.8CBFB, MSX2, RECQL4, RUNX2, SALL4
3MP:00053867.7MID1, MNX1, MSX2, SALL1, SALL4, TWIST1
4MP:00053807.6CBFB, MID1, MSX2, RECQL4, SALL1, SALL4
5MP:00053827.6CBFB, MSX2, RECQL4, RUNX2, SALL4, TWIST1
6MP:00053847.5CBFB, MNX1, RECQL4, RUNX2, SALL1, SALL4
7MP:00053717.2CBFB, MSX2, RECQL4, RUNX2, SALL1, SALL4
8MP:00053857.2CBFB, MNX1, MSX2, RUNX2, SALL1, SALL4
9MP:00053907.0CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
10MP:00053816.9CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1
11MP:00036316.6CBFB, MID1, MNX1, MSX2, RUNX2, SALL1
12MP:00107686.3CBFB, MID1, MNX1, MSX2, RECQL4, RUNX2
13MP:00053786.3CBFB, MID1, MNX1, MSX2, RECQL4, RUNX2

Publications for Imperforate Anus

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Articles related to Imperforate Anus:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
Mode of delivery in a woman with previous surgery for imperforate anus. (24484400)
2014
2
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. (24285853)
2013
3
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
4
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (23304577)
2012
5
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
6
Letter to the Editor regarding comparison of anorectal angle and continence after Georgeson and PeA+a procedures for high/intermediate imperforate anus. (21616275)
2011
7
Intraoperative measurement of rectourethral fistula: prevention of incomplete excision in male patients with high-/intermediate-type imperforate anus. (20152360)
2010
8
Wound infection after colostomy closure for imperforate anus in children: utility of preoperative oral antibiotics. (20638534)
2010
9
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula. (20177441)
2009
10
Psychosocial experiences of parents of a child with imperforate anus. (19796321)
2009
11
Congenital urethral hypoplasia with urethral fistula without imperforate anus: report of two cases. (19858662)
2008
12
Is intraoperative anal endosonography necessary during laparoscopy-assisted anorectoplasty for high/intermediate type imperforate anus? (18266590)
2008
13
Post-operative magnetic resonance evaluation of children after laparoscopic anorectoplasty for imperforate anus. (15322835)
2005
14
Imperforate anus associated with atresia of the transverse colon: a case report. (15343473)
2004
15
Case of a late presentation of cor triatriatum in a woman born with an imperforate anus. (15462228)
2004
16
Colostomy in neonates with a massively distended abdomen due to an imperforate anus. (11205595)
2001
17
Laparoscopic muscle electrostimulation during laparoscopy-assisted anorectal pull-through for high imperforate anus. (11685696)
2001
18
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. (10955487)
2000
19
Laparoscopically assisted anorectal pull-through for high imperforate anus--a new technique. (10873037)
2000
20
The anterior sagittal approach for high imperforate anus: a simplification of the Mollard approach. (9574780)
1998
21
Vaginal agenesis discovered during repair of high imperforate anus: operative management. (9798770)
1998
22
Urodynamic evaluation of an infant with complete bladder and colonic duplication, sacral dysgenesis, and an imperforate anus. (8689126)
1996
23
Cryptorchidism in boys with imperforate anus. (7595851)
1995
24
Association of imperforate anus with occult spinal dysraphism. (7472922)
1995
25
Augmented-pressure colostogram in imperforate anus with fistula. (1815175)
1991
26
Application of ultrasonography in the evaluation of imperforate anus. (1841066)
1991
27
Preservation of infralevator structures in imperforate anus repair. (2809947)
1989
28
Enterolithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female. (3281111)
1988
29
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. (6504608)
1984
30
Primary pull-through as definitive treatment of short colon associated with imperforate anus. (6576773)
1983
31
Imperforate anus with malrotation of the gut. (7388350)
1980
32
Imperforate anus: an analysis of mortalities during a 25-year period. (523650)
1979
33
A clinical evaluation of the surgical treatment of anorectal malformations (imperforate anus). (646498)
1978
34
Calcified intraluminal meconium in a female infant with imperforate anus. (416698)
1978
35
Case report: colon agenesis associated with imperforate anus. (746387)
1978
36
Short colon malformation with imperforate anus. (899777)
1977
37
Calcified intraluminal meconium in newborn males with imperforate anus. Enterolithiasis in the newborn. (1200245)
1975
38
Congenital hydrocolpos, hydrometra and hydrosalpinx with imperforate anus. (5425314)
1970
39
Imperforate anus: anorectosigmoid pressure studies as a quantitative evaluation of postoperative continence. (5371098)
1969
40
Primary aganglionosis associated with imperforate anus. Review of the literature pertinent to one observation. (5803825)
1969
41
Congenital imperforate anus and recto-urethral fistula. I. (13872974)
1962
42
Some new concepts in the embryology, anatomy, physiology and surgical correction of imperforate anus. (13703376)
1961
43
Treatment of imperforate anus. (13814677)
1960
44
Further experiences with the treatment of imperforate anus. (13625023)
1958
45
A CASE of imperforate anus. (13367565)
1956
46
Imperforate anus with agenesis of the vagina. (13303077)
1956
47
Pregnancy complicated by imperforate anus with congenital recto-vaginal fistula. (14392529)
1955
48
Anomalies and complications of the urogenital tract associated with congenital imperforate anus. (13152867)
1954
49
Imperforate anus associated with urinary tract fistula. (13037058)
1953
50
Imperforate anus complicating pregnancy. (13104531)
1953

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 pathways (with members indented)ScoreTop Affiliating Genes
19.1RUNX2, 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:000079210.0SALL1, SALL4
2nucleusGO:00056346.5CBFB, MNX1, MSX2, RECQL4, RUNX2, SALL1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1neural tube developmentGO:002191510.4SALL1, SALL4
2hindlimb morphogenesisGO:003513710.3SALL1, TWIST1
3outer ear morphogenesisGO:004247310.3SALL1, TWIST1
4ventricular septum developmentGO:000328110.2SALL1, SALL4
5cranial suture morphogenesisGO:006036310.1MSX2, TWIST1
6negative regulation of smoothened signaling pathwayGO:004587910.0RUNX2, SALL1
7odontogenesisGO:00424769.9MSX2, TWIST1
8embryonic hindlimb morphogenesisGO:00351169.8MSX2, TWIST1
9osteoblast developmentGO:00020769.7MSX2, RUNX2
10cell maturationGO:00484699.7CBFB, RUNX2
11neural tube closureGO:00018439.7SALL1, SALL4, TWIST1
12stem cell differentiationGO:00488639.6MSX2, RUNX2
13cellular response to growth factor stimulusGO:00713639.6MSX2, TWIST1
14chondrocyte developmentGO:00020639.5MSX2, RUNX2
15embryonic digit morphogenesisGO:00427339.5MSX2, SALL1, TWIST1
16embryonic cranial skeleton morphogenesisGO:00487019.5RUNX2, TWIST1
17positive regulation of osteoblast differentiationGO:00456699.5MSX2, RUNX2
18embryonic limb morphogenesisGO:00303269.4MSX2, SALL4, TWIST1
19embryonic forelimb morphogenesisGO:00351159.1MSX2, RUNX2, TWIST1
20negative regulation of transcription from RNA polymerase II promoterGO:00001228.6MSX2, SALL1, SALL4, TWIST1
21osteoblast differentiationGO:00016498.3CBFB, MSX2, RUNX2, TWIST1
22negative regulation of transcription, DNA-templatedGO:00458928.3MSX2, RUNX2, SALL1, TWIST1
23ossificationGO:00015038.0CBFB, MSX2, RUNX2, TWIST1
24positive regulation of transcription from RNA polymerase II promoterGO:00459447.9CBFB, RUNX2, SALL1, SALL4, TWIST1
25transcription from RNA polymerase II promoterGO:00063667.8CBFB, MSX2, RUNX2, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:00434259.7RUNX2, TWIST1
2sequence-specific DNA bindingGO:00435658.9MNX1, MSX2, SALL1, SALL4
3transcription regulatory region DNA bindingGO:00442128.7MSX2, RUNX2, SALL1, SALL4
4transcription factor bindingGO:00081348.7MSX2, RUNX2, TWIST1
5DNA bindingGO:00036777.4CBFB, MNX1, MSX2, RUNX2, SALL1, SALL4
6transcription factor activity, sequence-specific DNA bindingGO:00037007.3CBFB, MNX1, RUNX2, SALL1, SALL4, TWIST1

Sources for Imperforate Anus

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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