MCID: IMP002
MIFTS: 48

Imperforate Anus malady

Rare diseases category
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Summaries for Imperforate Anus

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

MalaCards: Imperforate Anus, also known as infantile occlusion of anus, is related to polydactyly and intestinal atresia. An important gene associated with Imperforate Anus is MNX1 (motor neuron and pancreas homeobox 1). Affiliated tissues include colon, kidney and testis, and related mouse phenotypes are limbs/digits/tail and skeleton.

Description from OMIM:47 301800,207500

Aliases & Classifications for Imperforate Anus

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 62UMLS, 40NCIt, 47OMIM, 58SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

imperforate anus 8 43 10
infantile occlusion of anus 8
congenital atresia of anus 8
imperforate anus nos 8
anus, imperforate 62
anal atresia 8


External Ids:

Disease Ontology8 DOID:10488
NCIt40 C84784
MeSH35 D001006

Related Diseases for Imperforate Anus

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17GeneCards, 18GeneDecks
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Diseases related to Imperforate Anus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.9GLI3, SALL1
2intestinal atresia30.5CPLX3, ARID3B
3congenital diaphragmatic hernia30.3TEF
4baller-gerold syndrome30.3RECQL4, SALL1
5synostosis30.2RECQL4, GLI3
6omphalocele exstrophy imperforate anus10.8
7omphalocele10.8
8urethritis10.7
9hirschsprung's disease10.6
10vaginitis10.6
11townes-brocks syndrome10.6
12adenocarcinoma10.5
13esophageal atresia10.5
14esophagitis10.5
15fecal incontinence10.5
16ankyloblepharon filiforme imperforate anus10.5
17chondrodysplasia situs inversus imperforate anus polydactyly10.5
18cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.5
19pallister-hall syndrome10.4
20hypospadias10.4
21meningocele10.4
22renal agenesis10.4
23cat eye syndrome10.4
24caudal regression syndrome10.4
25cloacal exstrophy10.4
26colonic atresia10.4
27diphallus rachischisis imperforate anus10.4
28exstrophy of the bladder10.4
29sirenomelia10.4
30tracheoesophageal fistula10.4
31focal segmental glomerulosclerosis10.3
32orchitis10.3
33johanson-blizzard syndrome10.3
34colon adenocarcinoma10.3
35hypopituitarism10.3
36caudal duplication10.3
37penoscrotal transposition10.3
38posterior urethral valves10.3
39exstrophy-epispadias complex10.3
40blepharo-cheilo-odontic syndrome10.3
41renal dysplasia10.3
42posterior urethral valve10.3
43pelvis syndrome10.3
44coloboma10.2
45pituitary hypoplasia10.1
46nail-patella syndrome10.1
47renpenning syndrome10.1
48edwards syndrome10.1
49oculocerebrorenal syndrome10.1
50choanal atresia10.1

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



Diseases related to imperforate anus

Symptoms for Imperforate Anus

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47OMIM
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Clinical features from OMIM:

301800,207500

Drugs & Therapeutics for Imperforate Anus

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Imperforate Anus

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Anatomical Context for Imperforate Anus

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33MalaCards
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MalaCards organs/tissues related to Imperforate Anus:

33
Colon, Kidney, Testis, Heart, Uterus, Eye, Testes, Prostate, Skin, Pituitary, Spinal cord

Animal Models for Imperforate Anus or affiliated genes

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37MGI
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Publications for Imperforate Anus

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52PubMed
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Articles related to Imperforate Anus:

(show top 50)    (show all 479)
idTitleAuthorsYear
1
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. (24285853)
2013
2
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. (22640865)
2013
3
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (23304577)
2012
4
Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex. (22925220)
2012
5
Letter to the Editor regarding comparison of anorectal angle and continence after Georgeson and PeA+a procedures for high/intermediate imperforate anus. (21616275)
2011
6
Intraoperative measurement of rectourethral fistula: prevention of incomplete excision in male patients with high-/intermediate-type imperforate anus. (20152360)
2010
7
Wound infection after colostomy closure for imperforate anus in children: utility of preoperative oral antibiotics. (20638534)
2010
8
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
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
Rectovaginal fistula and imperforate anus in a dog. (5105716)
1971
39
Congenital hydrocolpos, hydrometra and hydrosalpinx with imperforate anus. (5425314)
1970
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Imperforate Anus

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Pathways for genes affiliated with Imperforate Anus

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Compounds for genes affiliated with Imperforate Anus

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GO Terms for genes affiliated with Imperforate Anus

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16Gene Ontology
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Biological processes related to Imperforate Anus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic digestive tract developmentGO:0485669.9GLI3, SALL1
2negative regulation of smoothened signaling pathwayGO:0458799.9GLI3, SALL1
3embryonic digit morphogenesisGO:0427339.7SALL1, GLI3
4branching involved in ureteric bud morphogenesisGO:0016589.5GLI3, SALL1
5positive regulation of transcription from RNA polymerase II promoterGO:0459448.9GLI3, SALL1, CBFB, TEF
6transcription, DNA-templatedGO:0063518.1ARID3B, GLI3, SALL1, MNX1, TEF

Molecular functions related to Imperforate Anus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin bindingGO:0080139.8GLI3, SALL1
2sequence-specific DNA binding transcription factor activityGO:0037008.4GLI3, SALL1, CBFB, MNX1, TEF

Products for genes affiliated with Imperforate Anus

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Sources for Imperforate Anus

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet