MCID: IMP002
MIFTS: 47

Imperforate Anus malady

Summaries for Imperforate Anus

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 esophageal atresia and intestinal atresia. An important gene associated with Imperforate Anus is MNX1 (motor neuron and pancreas homeobox 1), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include colon, kidney and testis, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Description from OMIM:46 207500,301800

Aliases & Classifications for Imperforate Anus

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt
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Aliases & Descriptions:

imperforate anus 8 42 10
infantile occlusion of anus 8
congenital atresia of anus 8
imperforate anus nos 8
anus, imperforate 60
anal atresia 8


External Ids:

Disease Ontology8 DOID:10488
MeSH34 D001006
NCIt39 C84784

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 165)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia30.7TEF
2intestinal atresia30.4ARID3B, CPLX3
3vacterl association30.1TEF
4craniosynostosis30.1RECQL4
5duane-radial ray syndrome30.1SALL1, SALL4
6baller-gerold syndrome30.1SALL1, RECQL4
7congenital diaphragmatic hernia30.1STRA6, TEF
8microphthalmia30.0STRA6, SALL1
9anus disease10.7
10urethritis10.7
11hirschsprung's disease10.6
12polydactyly10.6
13townes-brocks syndrome10.6
14vaginitis10.5
15omphalocele exstrophy imperforate anus10.5
16adenocarcinoma10.5
17anus adenocarcinoma10.5
18esophagitis10.5
19fecal incontinence10.4
20pallister-hall syndrome10.4
21ankyloblepharon filiforme imperforate anus10.4
22chondrodysplasia situs inversus imperforate anus polydactyly10.4
23cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.4
24hypospadias10.4
25renal agenesis10.3
26meningocele10.3
27cat eye syndrome10.3
28caudal regression syndrome10.3
29cloacal exstrophy10.3
30diphallus rachischisis imperforate anus10.3
31johanson-blizzard syndrome10.2
32rectal prolapse10.2
33orchitis10.2
34focal glomerulosclerosis10.2
35colon adenocarcinoma10.2
36hypopituitarism10.2
37exstrophy-epispadias complex10.2
38blepharo-cheilo-odontic syndrome10.2
39pelvis syndrome10.2
40coloboma10.2
41pituitary hypoplasia10.1
42cryptorchidism10.1
43hydronephrosis10.1
44digeorge syndrome10.1
45familial adenomatous polyposis10.1
46gastroschisis10.1
47factor x deficiency10.1
48nail-patella syndrome10.1
49factor vii deficiency10.1
50edwards syndrome10.1

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



Diseases related to imperforate anus

Clinical Features for Imperforate Anus

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46OMIM
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Clinical features from OMIM:

207500,301800

Drugs & Therapeutics for Imperforate Anus

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Imperforate Anus:

32
Colon, Kidney, Testis, Heart, Uterus, Eye, Testes, Prostate, Skin, Pituitary, Spinal cord

Animal Models for Imperforate Anus or affiliated genes

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36MGI
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Publications for Imperforate Anus

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50PubMed
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Articles related to Imperforate Anus:

(show top 50)    (show all 486)
idTitleAuthorsYear
1
Rectocutaneous fistula with imperforate anus in an adult. (23624461)
2013
2
Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease. (23014387)
2012
3
Laparoscopically assisted anorectal pull-through for high imperforate anus in infants: intermediate results. (21843727)
2011
4
Wound infection after colostomy closure for imperforate anus in children: utility of preoperative oral antibiotics. (20638534)
2010
5
VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum presenting with portal hypertension: a case report. (20444267)
2010
6
Para-neorectal mucinous adenocarcinoma following childhood pull-through procedure for imperforate anus. (19207703)
2010
7
Medical and surgical management of fecal incontinence after repair of high imperforate anus anomalies. (20231934)
2010
8
Discordant omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex and cardiac malformations in monochorionic twins. (19842883)
2009
9
Myoblast transplantation to defecation muscles in a rat model: a possible treatment strategy for fecal incontinence after the repair of imperforate anus. (19690871)
2009
10
A gender perspective on the extent to which mothers and fathers each take responsibility for care of a child with high and intermediate imperforate anus. (19467434)
2009
11
Anovestibular fistula with imperforate anus in two adults. (19011310)
2008
12
The effect of rectourogenital fistula in high imperforate anus. (17496392)
2007
13
One-stage correction of intermediate imperforate anus in males. (15630587)
2005
14
New surgical options for fecal incontinence in patients with imperforate anus. (15043291)
2004
15
Enterolithiasis with imperforate anus: report of a case. (12598979)
2002
16
Imperforate anus in Feingold syndrome. (10817649)
2000
17
Special imaging casebook. High imperforate anus with enterolithiasis and dysraphism with large meningomyelocele. (10693105)
2000
18
Imperforate anus: an unusual presentation of a common disease. (10650775)
1999
19
Vaginal agenesis discovered during repair of high imperforate anus: operative management. (9798770)
1998
20
Cryptorchidism in boys with imperforate anus. (7595851)
1995
21
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
22
Imperforate anus associated with a recto-bulbar-cutaneous fistula. (8120750)
1994
23
Anterior perineal approach and three-flap anoplasty for imperforate anus: optimal reconstruction with minimal destruction. (1564617)
1992
24
Augmented-pressure colostogram in imperforate anus with fistula. (1815175)
1991
25
Application of ultrasonography in the evaluation of imperforate anus. (1841066)
1991
26
Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus. (2596528)
1989
27
High altitude treatment of imperforate anus. (3820028)
1987
28
Effect of loperamide on faecal control after rectoplasty for high imperforate anus. (3716742)
1986
29
A child with low imperforate anus. (2582375)
1985
30
Cardiovascular anomalies with imperforate anus. (6625642)
1983
31
Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. (7199082)
1982
32
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. (7211952)
1980
33
Imperforate anus: an analysis of mortalities during a 25-year period. (523650)
1979
34
The value of transperineal injection for the diagnosis of imperforate anus. (507977)
1979
35
Imperforate anus. (1267598)
1976
36
Uretero-vas deferens anastomosis associated with imperforate anus: an embryologically predictable occurrence. (1123706)
1975
37
Supralevator imperforate anus with unusual associated anomalies: colonic ureteral ectopy, intraluminal calcified meconium. (1233424)
1975
38
Renal tract disease in imperforate anus. (4825791)
1974
39
Problems in a baby with imperforate anus. (5024474)
1972
40
Perthes' disease and imperforate anus. (4104805)
1971
41
Urogenital anomlies and complications associated with imperforate anus. (5446463)
1970
42
A new polydactyly-imperforate-anus-vertebral-anomalies syndrome? (4176889)
1968
43
Agenesis of the descending colon with imperforate anus. Correlation with modern concepts of the origin of intestinal atresia. (6016728)
1967
44
MANAGEMENT OF LOW RECTOVAGINAL FISTULAS ASSOCIATED WITH IMPERFORATE ANUS. (14275055)
1965
45
Important factors influencing the treatment of imperforate anus. (13907163)
1962
46
Imperforate anus: a review of 147 cases. (13922716)
1962
47
Imperforate anus. (13498641)
1958
48
Urologic complications of imperforate anus. (13554418)
1957
49
Congenital imperforate anus. (13274661)
1956
50
Imperforate anus; a case series and preliminary report on the one stage abdominoperineal operation. (18126299)
1949

Genetic Variations for Imperforate Anus

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Expression for genes affiliated with Imperforate Anus

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1BioGPS, 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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51QIAGEN
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Pathways related to Imperforate Anus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SALL1, ZIC3

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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Cellular components related to Imperforate Anus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00079210.1SALL4, SALL1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1diaphragm developmentGO:06053910.1MNX1, STRA6
2ventricular septum developmentGO:00328110.0STRA6, SALL4, SALL1
3embryonic digestive tract developmentGO:0485669.9STRA6, SALL1
4neural tube closureGO:0018439.9SALL1, SALL4, MED12
5heart developmentGO:0075079.8MED12, STRA6, SALL1
6adrenal gland developmentGO:0303259.7SALL1, STRA6
7positive regulation of transcription from RNA polymerase II promoterGO:0459449.1ZIC3, SALL1, SALL4, MED12, CBFB, TEF

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.3TEF, MNX1, CBFB, SALL1, ZIC3

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet