MCID: IMP002
MIFTS: 48

Imperforate Anus malady

Rare diseases category
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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 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.

Descriptions from OMIM:46 301800,207500

Aliases & Classifications for Imperforate Anus

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Imperforate Anus, Aliases & Descriptions:

Name: Imperforate Anus 8 42 10
Infantile Occlusion of Anus 8
Congenital Atresia of Anus 8
 
Imperforate Anus Nos 8
Anus, Imperforate 62
Anal Atresia 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:10488
MeSH34 D001006
NCIt39 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 188)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly31.0GLI3, SALL1
2intestinal atresia30.7CPLX3, ARID3B
3congenital diaphragmatic hernia30.6TEF
4baller-gerold syndrome30.6RECQL4, SALL1
5synostosis30.4RECQL4, GLI3
6omphalocele exstrophy imperforate anus10.8
7omphalocele10.8
8urethritis10.7
9hirschsprung's disease10.7
10townes-brocks syndrome10.6
11vaginitis10.6
12adenocarcinoma10.6
13esophageal atresia10.5
14esophagitis10.5
15fecal incontinence10.5
16pallister-hall syndrome10.5
17ankyloblepharon filiforme imperforate anus10.5
18chondrodysplasia situs inversus imperforate anus polydactyly10.5
19cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.5
20hypospadias10.4
21renal agenesis10.4
22meningocele10.4
23cat eye syndrome10.4
24caudal regression syndrome10.4
25colonic atresia10.4
26diphallus rachischisis imperforate anus10.4
27sirenomelia10.4
28tracheoesophageal fistula10.4
29focal segmental glomerulosclerosis10.3
30orchitis10.3
31johanson-blizzard syndrome10.3
32cryptorchidism10.3
33colon adenocarcinoma10.3
34hypopituitarism10.3
35caudal duplication10.3
36cloacal exstrophy10.3
37exstrophy of the bladder10.3
38limb-body wall complex10.3
39penoscrotal transposition10.3
40posterior urethral valves10.3
41prune belly syndrome10.3
42exstrophy-epispadias complex10.3
43blepharo-cheilo-odontic syndrome10.3
44renal dysplasia10.3
45pelvis syndrome10.3
46coloboma10.2
47karandikar maria kamble syndrome10.2
48rapadilino syndrome10.1UBR1, RECQL4
49beckwith-wiedemann syndrome10.1
50craniorachischisis10.1

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



Diseases related to imperforate anus

Symptoms for Imperforate Anus

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Clinical features from OMIM:

301800,207500

HPO human phenotypes related to Imperforate Anus:

(show all 6)
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 anal atresia HP:0002023
6 ectopic anus HP:0004397

Drugs & Therapeutics for Imperforate Anus

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Drug clinical trials:

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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:

32
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 490)
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
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
Calcified intraluminal meconium in a female infant with imperforate anus. (416698)
1978
34
Case report: colon agenesis associated with imperforate anus. (746387)
1978
35
Short colon malformation with imperforate anus. (899777)
1977
36
Calcified intraluminal meconium in newborn males with imperforate anus. Enterolithiasis in the newborn. (1200245)
1975
37
Rectovaginal fistula and imperforate anus in a dog. (5105716)
1971
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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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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet