MCID: IMP002
MIFTS: 47

Imperforate Anus malady

Summaries for Imperforate Anus

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 spinal cord, heart and skeletal muscle, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Description from OMIM:47 207500,301800

Aliases & Classifications for Imperforate Anus

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 40NCIt
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Aliases & Descriptions:

imperforate anus 8 43 10
infantile occlusion of anus 8
congenital atresia of anus 8
imperforate anus nos 8
anus, imperforate 61
anal atresia 8


External Ids:

Disease Ontology8 DOID:10488
MeSH35 D001006
NCIt40 C84784

Related Diseases for Imperforate Anus

Sources:
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 177)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia30.7TEF
2intestinal atresia30.5ARID3B, CPLX3
3vacterl association30.1TEF
4duane-radial ray syndrome30.1SALL1, SALL4
5baller-gerold syndrome30.1SALL1, RECQL4
6congenital diaphragmatic hernia30.1STRA6, TEF
7microphthalmia30.0STRA6, SALL1
8omphalocele exstrophy imperforate anus10.8
9omphalocele10.8
10anus disease10.7
11polydactyly10.6
12townes-brocks syndrome10.6
13ankyloblepharon filiforme imperforate anus10.5
14adenocarcinoma10.5
15anus adenocarcinoma10.5
16pallister-hall syndrome10.5
17fecal incontinence10.4
18cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.4
19hypospadias10.4
20hirschsprung's disease10.4
21n syndrome10.4
22chondrodysplasia situs inversus imperforate anus polydactyly10.4
23renal agenesis10.3
24meningocele10.3
25short syndrome10.3
26cat eye syndrome10.3
27caudal regression syndrome10.3
28cloacal exstrophy10.3
29diphallus rachischisis imperforate anus10.3
30tracheoesophageal fistula10.3
31sirenomelia10.3
32johanson-blizzard syndrome10.2
33rectal prolapse10.2
34orchitis10.2
35down syndrome10.2
36focal glomerulosclerosis10.2
37prune belly syndrome10.2
38caudal duplication10.2
39colonic atresia10.2
40penoscrotal transposition10.2
41hypopituitarism postaxial polydactyly10.2
42posterior valve urethra10.2
43exstrophy-epispadias complex10.2
44blepharo-cheilo-odontic syndrome10.2
45anal fistula10.2
46renal dysplasia10.2
47posterior urethral valve10.2
48pelvis syndrome10.2
49coloboma10.2
50peri-anal fistula10.1

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



Diseases related to imperforate anus

Clinical Features for Imperforate Anus

Sources:
47OMIM
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Clinical features from OMIM:

207500,301800

Drugs & Therapeutics for Imperforate Anus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Imperforate Anus

Drug clinical trials:

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Search CenterWatch for Imperforate Anus

Genetic Tests for Imperforate Anus

Anatomical Context for Imperforate Anus

Sources:
33MalaCards
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MalaCards organs/tissues related to Imperforate Anus:

33
Spinal cord, Heart, Skeletal muscle, Small intestine, Colon, Kidney, Skin, Uterus, Prostate, Testis, Pituitary, Uterus corpus

Animal Models for Imperforate Anus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Imperforate Anus

Sources:
51PubMed
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Articles related to Imperforate Anus:

(show top 50)    (show all 490)
idTitleAuthorsYear
1
Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease. (23014387)
2012
2
Laparoscopically assisted anorectal pull-through for high imperforate anus in infants: intermediate results. (21843727)
2011
3
Imperforate anus with a rectovestibular fistula and pseudotail: a case report. (20929527)
2010
4
Para-neorectal mucinous adenocarcinoma following childhood pull-through procedure for imperforate anus. (19207703)
2010
5
Medical and surgical management of fecal incontinence after repair of high imperforate anus anomalies. (20231934)
2010
6
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula. (20177441)
2009
7
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
8
Is intraoperative anal endosonography necessary during laparoscopy-assisted anorectoplasty for high/intermediate type imperforate anus? (18266590)
2008
9
Children with high and intermediate imperforate anus: remembering and talking about medical treatment carried out early in life. (18668253)
2008
10
Anovestibular fistula with imperforate anus in two adults. (19011310)
2008
11
Anal and ano-urogenital malformations: a histopathological study of "imperforate anus" with a reconstruction of the pathogenesis. (17535093)
2007
12
Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst. (16311737)
2006
13
Hirschsprung's disease and imperforate anus in a new born: unusual assocation. (17447367)
2006
14
Imperforate anus associated with atresia of the transverse colon: a case report. (15343473)
2004
15
Imperforate anus associated with oesophageal atresia and tracheo-oesophageal fistula. (15300277)
2004
16
New surgical options for fecal incontinence in patients with imperforate anus. (15043291)
2004
17
Three-flap anoplasty for imperforate anus: results for primary procedure or for redoes. (11719868)
2001
18
Laparoscopically assisted anorectal pull-through for high imperforate anus--a new technique. (10873037)
2000
19
Special imaging casebook. High imperforate anus with enterolithiasis and dysraphism with large meningomyelocele. (10693105)
2000
20
The anterior sagittal approach for high imperforate anus: a simplification of the Mollard approach. (9574780)
1998
21
Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. (9258199)
1997
22
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
23
Imperforate anus associated with a recto-bulbar-cutaneous fistula. (8120750)
1994
24
The use of a long split rectal tube to aid in pull-through procedures for imperforate anus. (8437079)
1993
25
Long-term anorectal function in imperforate anus treated by a posterior sagittal anorectoplasty: manometric investigation. (1640342)
1992
26
Anterior perineal approach and three-flap anoplasty for imperforate anus: optimal reconstruction with minimal destruction. (1564617)
1992
27
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
28
Effect of loperamide on faecal control after rectoplasty for high imperforate anus. (3716742)
1986
29
Imperforate anus. Diagnosis and surgical treatment. (3852660)
1985
30
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
31
Imperforate anus: the neurologic implication of sacral abnormalities. (6520683)
1984
32
Cardiovascular anomalies with imperforate anus. (6625642)
1983
33
Congenital short colon with imperforate anus: a definitive surgical cure. (7077507)
1982
34
Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. (7199082)
1982
35
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. (7211952)
1980
36
The value of transperineal injection for the diagnosis of imperforate anus. (507977)
1979
37
Surgical treatment of high imperforate anus with definition of the puborectalis sling by an anterior perineal approach. (712525)
1978
38
Imperforate anus. (1267598)
1976
39
Supralevator imperforate anus with unusual associated anomalies: colonic ureteral ectopy, intraluminal calcified meconium. (1233424)
1975
40
Anal continence following surgery for imperforate anus. (4756941)
1973
41
Rectovaginal fistula and imperforate anus in a dog. (5105716)
1971
42
Urogenital anomlies and complications associated with imperforate anus. (5446463)
1970
43
A new polydactyly-imperforate-anus-vertebral-anomalies syndrome? (4176889)
1968
44
Agenesis of the descending colon with imperforate anus. Correlation with modern concepts of the origin of intestinal atresia. (6016728)
1967
45
The association of lumbosacral spine and genitourinary anomalies with imperforate anus. (5913688)
1966
46
MANAGEMENT OF LOW RECTOVAGINAL FISTULAS ASSOCIATED WITH IMPERFORATE ANUS. (14275055)
1965
47
Important factors influencing the treatment of imperforate anus. (13907163)
1962
48
Imperforate anus: a review of 147 cases. (13922716)
1962
49
Imperforate anus. (13498641)
1958
50
Urologic complications of imperforate anus. (13554418)
1957

Genetic Variations for Imperforate Anus

Expression for genes affiliated with Imperforate Anus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Imperforate Anus

Search GEO for disease gene expression data for Imperforate Anus.

Pathways for genes affiliated with Imperforate Anus

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52QIAGEN
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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

GO Terms for genes affiliated with Imperforate Anus

Sources:
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

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Imperforate Anus

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet