MCID: IMP002
MIFTS: 51

Imperforate Anus malady

Rare diseases category

Summaries for Imperforate Anus

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Wikipedia:65 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

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

Aliases & Classifications for Imperforate Anus

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Imperforate Anus, Aliases & Descriptions:

Name: Imperforate Anus 10 43 12
Infantile Occlusion of Anus 10
Congenital Atresia of Anus 10
 
Imperforate Anus Nos 10
Anus, Imperforate 62
Anal Atresia 10


Classifications:

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


External Ids:

Disease Ontology10 DOID:10488
MeSH35 D001006
NCIt40 C84784

Related Diseases for Imperforate Anus

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

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.9GLI3, SALL1
2intestinal atresia30.5ARID3B, CPLX3
3synostosis30.4RECQL4, GLI3
4congenital diaphragmatic hernia30.2TEF
5baller-gerold syndrome30.2RECQL4, SALL1
6omphalocele exstrophy imperforate anus10.8
7omphalocele10.8
8urethritis10.7
9townes-brocks syndrome10.7
10vaginitis10.6
11ankyloblepharon filiforme imperforate anus10.6
12adenocarcinoma10.6
13esophageal atresia10.5
14esophagitis10.5
15cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.5
16pallister-hall syndrome10.5
17fecal incontinence10.5
18chondrodysplasia situs inversus imperforate anus polydactyly10.5
19hypospadias10.4
20sirenomelia10.4
21cat eye syndrome10.4
22meningocele10.4
23colonic atresia10.4
24diphallus rachischisis imperforate anus10.4
25exstrophy of the bladder10.4
26tracheoesophageal fistula10.4
27johanson-blizzard syndrome10.3
28cryptorchidism10.3
29focal segmental glomerulosclerosis10.3
30orchitis10.3
31colon adenocarcinoma10.3
32hypopituitarism10.3
33cloacal exstrophy10.3
34limb-body wall complex10.3
35penoscrotal transposition10.3
36posterior urethral valves10.3
37renal dysplasia10.3
38vacterl association, x-linked10.2
39vater association with macrocephaly and ventriculomegaly10.2
40coloboma10.2
41karandikar maria kamble syndrome10.2
42aphakia, congenital primary10.1
43peters anomaly10.1
44focal facial dermal dysplasia 3, setleis type10.1
45ulna and fibula, absence of, with severe limb deficiency10.1
46c syndrome10.1
47treacher collins syndrome 110.1
48beckwith-wiedemann syndrome10.1
49tetralogy of fallot10.1
50nijmegen breakage syndrome10.1

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 x-linked inheritance HP:0001417
5 ectopic anus HP:0004397

Drugs & Therapeutics for Imperforate Anus

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Drug clinical trials:

Search ClinicalTrials for Imperforate Anus

Search NIH Clinical Center for Imperforate Anus

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, Breast, Skin, Uterus, Eye, Prostate, Testes, Pituitary, Spinal cord

Animal Models for Imperforate Anus or affiliated genes

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Publications for Imperforate Anus

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Articles related to Imperforate Anus:

(show top 50)    (show all 502)
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
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
10
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula. (20177441)
2009
11
Psychosocial experiences of parents of a child with imperforate anus. (19796321)
2009
12
Congenital urethral hypoplasia with urethral fistula without imperforate anus: report of two cases. (19858662)
2008
13
Is intraoperative anal endosonography necessary during laparoscopy-assisted anorectoplasty for high/intermediate type imperforate anus? (18266590)
2008
14
Post-operative magnetic resonance evaluation of children after laparoscopic anorectoplasty for imperforate anus. (15322835)
2005
15
Imperforate anus associated with atresia of the transverse colon: a case report. (15343473)
2004
16
Case of a late presentation of cor triatriatum in a woman born with an imperforate anus. (15462228)
2004
17
Colostomy in neonates with a massively distended abdomen due to an imperforate anus. (11205595)
2001
18
Laparoscopic muscle electrostimulation during laparoscopy-assisted anorectal pull-through for high imperforate anus. (11685696)
2001
19
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. (10955487)
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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Compounds for genes affiliated with Imperforate Anus

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GO Terms for genes affiliated with Imperforate Anus

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Biological processes related to Imperforate Anus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic digestive tract developmentGO:00485669.9SALL1, GLI3
2negative regulation of smoothened signaling pathwayGO:00458799.9SALL1, GLI3
3embryonic digit morphogenesisGO:00427339.7SALL1, GLI3
4branching involved in ureteric bud morphogenesisGO:00016589.5SALL1, GLI3
5positive regulation of transcription from RNA polymerase II promoterGO:00459448.9TEF, CBFB, SALL1, GLI3
6transcription, DNA-templatedGO:00063518.1TEF, MNX1, SALL1, GLI3, ARID3B

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

idNameGO IDScoreTop Affiliating Genes
1beta-catenin bindingGO:00080139.8GLI3, SALL1
2sequence-specific DNA binding transcription factor activityGO:00037008.4GLI3, SALL1, CBFB, MNX1, TEF

Products for genes affiliated with Imperforate Anus

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Sources for Imperforate Anus

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4CDC
15ExPASy
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25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
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31KEGG
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40NCIt
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48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
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63UMLS via Orphanet