Aliases & Classifications for Anorectal Anomalies

MalaCards integrated aliases for Anorectal Anomalies:

Name: Anorectal Anomalies 57 76 55

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anorectal anomalies:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 107100
MedGen 42 C3495676

Summaries for Anorectal Anomalies

MalaCards based summary : Anorectal Anomalies is related to 46,xx disorder of sex development-anorectal anomalies syndrome and pseudohermaphrodism anorectal anomalies. An important gene associated with Anorectal Anomalies is MNX1 (Motor Neuron And Pancreas Homeobox 1). The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testis and heart, and related phenotypes are rectovaginal fistula and anal atresia

Wikipedia : 76 Anorectal anomalies are congenital malformations of the anus and rectum. One anal anomaly, imperforate... more...

Description from OMIM: 107100

Related Diseases for Anorectal Anomalies

Diseases related to Anorectal Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 46,xx disorder of sex development-anorectal anomalies syndrome 12.0
2 pseudohermaphrodism anorectal anomalies 12.0
3 kabuki syndrome 1 9.9
4 fecal incontinence 9.9
5 pfeiffer syndrome 9.7
6 cleft palate, isolated 9.7
7 renal hypodysplasia/aplasia 1 9.7
8 anus, imperforate 9.7
9 mckusick-kaufman syndrome 9.7
10 sacral defect with anterior meningocele 9.7
11 polydactyly 9.7
12 propionic acidemia 9.7
13 tethered spinal cord syndrome 9.7
14 heart disease 9.7
15 vaginitis 9.7
16 alveolar capillary dysplasia 9.7
17 vaginal atresia 9.7

Graphical network of the top 20 diseases related to Anorectal Anomalies:



Diseases related to Anorectal Anomalies

Symptoms & Phenotypes for Anorectal Anomalies

Symptoms via clinical synopsis from OMIM:

57
GI:
anorectal stenosis
imperforate anus

GU:
rectovaginal fistula


Clinical features from OMIM:

107100

Human phenotypes related to Anorectal Anomalies:

32
# Description HPO Frequency HPO Source Accession
1 rectovaginal fistula 32 HP:0000143
2 anal atresia 32 HP:0002023

Drugs & Therapeutics for Anorectal Anomalies

Drugs for Anorectal Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents
2 Antibiotics, Antitubercular
3 Cola Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008 Not Applicable
2 National Study on the Quality of Life of Patients With Anorectal Malformation Completed NCT02029248
3 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
4 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
5 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty Completed NCT00883571 Not Applicable
6 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
7 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty Not yet recruiting NCT03174028 Not Applicable

Search NIH Clinical Center for Anorectal Anomalies

Genetic Tests for Anorectal Anomalies

Anatomical Context for Anorectal Anomalies

MalaCards organs/tissues related to Anorectal Anomalies:

41
Spinal Cord, Testis, Heart, Colon

Publications for Anorectal Anomalies

Articles related to Anorectal Anomalies:

(show all 36)
# Title Authors Year
1
Early reported rectal sensation predicts continence in anorectal anomalies. ( 26563529 )
2016
2
Register based study of anorectal anomalies over 26 years: Associated anomalies, prevalence, and trends. ( 26173562 )
2015
3
Long-term follow-up of paediatric anorectal anomalies and the role and efficacy of parent support groups for such conditions. ( 23948813 )
2013
4
Anorectal anomalies in adults-laparoscopic management and review of literature. ( 23904718 )
2012
5
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. ( 22821084 )
2012
6
Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation. ( 21932606 )
2011
7
Alveolar capillary dysplasia with anorectal anomaly. ( 22080682 )
2011
8
Congenital pouch colon: Increasing association with low anorectal anomalies. ( 20419025 )
2009
9
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination. ( 18990987 )
2008
10
Evaluation of outcome of anorectal anomaly in childhood: the role of anorectal manometry and endosonography. ( 18512062 )
2008
11
Associated malformations in patients with anorectal anomalies. ( 17572165 )
2007
12
Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea. ( 17375220 )
2007
13
Posterior sagittal anorectoplasty in anorectal anomalies: clinical, manometric and profilometric evaluation. ( 17923941 )
2007
14
Laparoscopic cecostomy button placement for the management of fecal incontinence in children with Hirschsprung's disease and anorectal anomalies. ( 16508814 )
2006
15
Follow-up of anorectal anomalies: the Italian parents' and patients' perspective. ( 16567204 )
2006
16
Anorectal anomalies in adult females corrected by posterior sagittal anorectoplasty. ( 16114166 )
2005
17
Manometric evaluation of postoperative patients with anorectal anomalies. ( 15627658 )
2004
18
Surgical reconstruction of cloacal malformation can alter bladder function: a comparative study with anorectal anomalies. ( 15538272 )
2004
19
Bowel imbrication in the management of anorectal anomalies. ( 15309467 )
2004
20
Anorectal anomaly associated with caudal regression: late evaluation after posterior sagittal anorectoplasty. ( 12721739 )
2003
21
Reoperative surgery for anorectal anomalies. ( 12728398 )
2003
22
Spectrum of anorectal anomalies in pygopagus twins. ( 12677576 )
2003
23
Revision anorectoplasty in the management of anorectal anomalies. ( 12021977 )
2002
24
Anorectal anomalies associated with or as part of other anomalies. ( 12116249 )
2002
25
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. ( 11733381 )
2001
26
Lower lip pits and anorectal anomalies in Kabuki syndrome. ( 10482881 )
1999
27
Treatment of anorectal anomalies by anterior perineal anorectoplasty. ( 10507419 )
1999
28
Transanal MR imaging after repair of anorectal anomalies in children: appearances in pull-through versus posterior sagittal reconstructions. ( 10470912 )
1999
29
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and high anorectal anomalies. ( 9607503 )
1998
30
The incidence of occult spinal dysraphism and the onset of neurovesical dysfunction in children with anorectal anomalies. ( 7766543 )
1994
31
[Radical surgical correction of anorectal anomalies in children by the method of posterior sagittal anorectoplasty]. ( 7990316 )
1994
32
Anorectal anomaly in Pfeiffer syndrome. ( 8298735 )
1993
33
[Condition of the anal sphincter in patients with anorectal anomalies based on electromyographic data]. ( 2259172 )
1990
34
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. ( 448491 )
1979
35
Propionic acidemia and anorectal anomalies in three siblings. ( 930888 )
1977
36
The association of spinal and genitourinary abnormalities with low anorectal anomalies (imperforate anus) in female infants. ( 4428057 )
1974

Variations for Anorectal Anomalies

Expression for Anorectal Anomalies

Search GEO for disease gene expression data for Anorectal Anomalies.

Pathways for Anorectal Anomalies

GO Terms for Anorectal Anomalies

Sources for Anorectal Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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