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


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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, Uterus, Heart, Pituitary, Testes, Eye, Skin, Prostate, 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
Laparoscopically assisted sacroperitoneal pull-through for high imperforate anus: a new technique. (22311821)
2012
2
Intraoperative measurement of rectourethral fistula: prevention of incomplete excision in male patients with high-/intermediate-type imperforate anus. (20152360)
2010
3
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. (20101698)
2010
4
Rare association of malrotation, imperforate anus and Hirschsprung's disease in an infant. (20158654)
2010
5
Long-term functional outcome and quality of life in patients with high imperforate anus. (20105608)
2010
6
Procedure for prolapsed hemorrhoids for treatment of rectal mucosa prolapse following anorectoplasty for imperforate anus. (18481506)
2008
7
Fetal megalourethra associated with hypoplastic left heart and imperforate anus: a previously unreported association. (18049081)
2008
8
Polyorchidism in a child with imperforate anus. (18675651)
2008
9
Primary laparoscopic repair of high imperforate anus in neonatal males. (18022439)
2007
10
Imperforate anus: A relatively common anomaly rarely diagnosed prenatally. (17091530)
2006
11
Infrared spectrophotometry of intraluminal meconium calculi in a neonate with imperforate anus and rectourethral fistula. (16769356)
2006
12
Imperforate anus and colon atresia in a newborn. (16516641)
2006
13
Isolated imperforate anus in monozygotic twins: case report and implications. (15793704)
2005
14
Artificial sphincter with colonic reservoir for severe anal incontinence because of imperforate anus and short-bowel syndrome: report of a case. (16229068)
2005
15
Case of a late presentation of cor triatriatum in a woman born with an imperforate anus. (15462228)
2004
16
OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases. (11251992)
2001
17
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. (10955487)
2000
18
Unilateral inguinal ectopic scrotum and imperforate anus: a case report. (9314263)
1997
19
Urodynamic evaluation of an infant with complete bladder and colonic duplication, sacral dysgenesis, and an imperforate anus. (8689126)
1996
20
Does posterior sagittal anorectoplasty in patients with high imperforate anus provide superior fecal continence? (8632281)
1996
21
The various types of anorectal fistula in male imperforate anus. (8753661)
1996
22
Anterior sagittal anorectoplasty as a redo operation for imperforate anus. (8229572)
1993
23
The management of the neuropathic bladder in adolescents with imperforate anus. (1635137)
1992
24
Sacral agenesis with imperforate anus and its late complication: neuropathic bladder. (1938230)
1991
25
Occult neurovesical dysfunction in children with imperforate anus and its variants. (2005526)
1991
26
Enterolithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female. (3281111)
1988
27
Perirectal mucocele after imperforate anus repair. (3822587)
1987
28
Multiple-flap anoplasty in the treatment of rectal prolapse after pull-through operations for imperforate anus. (3819997)
1987
29
The anterior perineal approach for pull-through operations in high imperforate anus. (6663404)
1983
30
Invertogram in a baby with imperforate anus and esophageal atresia. (6601408)
1983
31
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations. (7211954)
1980
32
Importance of cystourethrography in neonates with imperforate anus. (377750)
1979
33
A clinical and manometric correlation for assessment of postoperative continence in imperforate anus. (512796)
1979
34
High pouch imperforate anus treated by electromagnetic bougienage and subsequent perineal repair. (633049)
1978
35
Ankyloblepharon filiforme adnatum with hydrocephalus, meningomyelocele, and imperforate anus. (331965)
1977
36
The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): Developmental aspects and eye findings. (842344)
1977
37
Position of rectal fistula in relation to the hymen in 46 girls with imperforate anus. (1142050)
1975
38
Urologic abnormalities associated with imperforate anus. (4698352)
1973
39
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. (5042490)
1972
40
Polydactyly/imperforate-anus/vertebral-anomalies syndrome. (4191463)
1970
41
Management of the newborn with imperforate anus. Initial management of imperforate anus by simple dilatation, decompressing colostomy, perineal anoplasty, or combined abdominoperineal pull-through is evaluated in sixty-two patients over a twenty-year period at the Yale-New Haven Hospital. (5797421)
1969
42
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? (4175523)
1968
43
DEFECTS IN OPERATIONS FOR IMPERFORATE ANUS. (14213203)
1964
44
Congenital absence of most of the colon; anomaly associated with imperforate anus, syndactylism, and polydactylism. (13846805)
1959
45
Imperforate anus: results in 63 cases and some anatomic considerations. (14444236)
1959
46
A CASE of imperforate anus. (13367565)
1956
47
Imperforate anus. (13380715)
1956
48
Imperforate anus and associated malformations. (12979168)
1952
49
The treatment of imperforate anus and associated fistulas. (12995253)
1952
50
Double hydrometrocolpos and imperforate anus in a newborn infant. (15425499)
1950

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:0018439.9MED12, SALL1, SALL4
5heart developmentGO:0075079.8SALL1, STRA6, MED12
6adrenal gland developmentGO:0303259.7STRA6, SALL1
7positive regulation of transcription from RNA polymerase II promoterGO:0459449.1CBFB, TEF, MED12, SALL4, ZIC3, SALL1

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