Aliases & Classifications for Anorectal Anomalies

MalaCards integrated aliases for Anorectal Anomalies:

Name: Anorectal Anomalies 58 77 56

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
anorectal anomalies:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 107100
MedGen 43 C3495676

Summaries for Anorectal Anomalies

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

Wikipedia : 77 Anorectal anomalies are congenital malformations of the anus and rectum. One anal anomaly, imperforate... more...

Description from OMIM: 107100

Related Diseases for Anorectal Anomalies

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



Diseases related to Anorectal Anomalies

Symptoms & Phenotypes for Anorectal Anomalies

Human phenotypes related to Anorectal Anomalies:

33
# Description HPO Frequency HPO Source Accession
1 anal atresia 33 HP:0002023
2 rectovaginal fistula 33 HP:0000143

Symptoms via clinical synopsis from OMIM:

58
G U:
rectovaginal fistula

G I:
imperforate anus
anorectal stenosis

Clinical features from OMIM:

107100

Drugs & Therapeutics for Anorectal Anomalies

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
3
leucovorin Approved Not Applicable 58-05-9 143 6006
4
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
6
Cobalamin Experimental Not Applicable 13408-78-1 6857388
7 Cola
8 Antibiotics, Antitubercular
9 Anti-Bacterial Agents
10 Vitamin B9 Not Applicable
11 Vitamin B Complex Not Applicable
12 Nutrients Not Applicable
13 Trace Elements Not Applicable
14 Vitamin B12 Not Applicable
15 Micronutrients Not Applicable
16 Folate Not Applicable
17 Vitamins Not Applicable
18 Vitamin B 12 Not Applicable
19 Hematinics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
2 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
3 National Study on the Quality of Life of Patients With Anorectal Malformation Completed NCT02029248
4 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
5 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty Not yet recruiting NCT03174028 Not Applicable
6 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
7 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008 Not Applicable
8 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
9 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
10 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty Completed NCT00883571 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:

42
Heart, Spinal Cord, Colon, Testis, Tongue

Publications for Anorectal Anomalies

Articles related to Anorectal Anomalies:

(show top 50) (show all 102)
# Title Authors Year
1
Variations in the Detection of Anorectal Anomalies at Birth among European Cities. ( 31039595 )
2019
2
Associated anomalies in cases with anorectal anomalies. ( 30548801 )
2018
3
Early reported rectal sensation predicts continence in anorectal anomalies. ( 26563529 )
2016
4
Register based study of anorectal anomalies over 26 years: Associated anomalies, prevalence, and trends. ( 26173562 )
2015
5
Long-term follow-up of paediatric anorectal anomalies and the role and efficacy of parent support groups for such conditions. ( 23948813 )
2013
6
Anorectal anomalies in adults-laparoscopic management and review of literature. ( 23904718 )
2012
7
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. ( 22821084 )
2012
8
Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation. ( 21932606 )
2011
9
Congenital pouch colon: Increasing association with low anorectal anomalies. ( 20419025 )
2009
10
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination. ( 18990987 )
2008
11
Posterior sagittal anorectoplasty in anorectal anomalies: clinical, manometric and profilometric evaluation. ( 17923941 )
2007
12
Associated malformations in patients with anorectal anomalies. ( 17572165 )
2007
13
Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea. ( 17375220 )
2007
14
Follow-up of anorectal anomalies: the Italian parents' and patients' perspective. ( 16567204 )
2006
15
Laparoscopic cecostomy button placement for the management of fecal incontinence in children with Hirschsprung's disease and anorectal anomalies. ( 16508814 )
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
Reoperative surgery for anorectal anomalies. ( 12728398 )
2003
21
Spectrum of anorectal anomalies in pygopagus twins. ( 12677576 )
2003
22
Anorectal anomalies associated with or as part of other anomalies. ( 12116249 )
2002
23
Revision anorectoplasty in the management of anorectal anomalies. ( 12021977 )
2002
24
Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. ( 11733381 )
2001
25
Colostomy for anorectal anomalies: high incidence of complications. ( 11329592 )
2001
26
Combined posterior sagittal and three-flap anoplasty in the repair of anorectal anomalies. ( 11329571 )
2001
27
Treatment of anorectal anomalies by anterior perineal anorectoplasty. ( 10507419 )
1999
28
Lower lip pits and anorectal anomalies in Kabuki syndrome. ( 10482881 )
1999
29
Transanal MR imaging after repair of anorectal anomalies in children: appearances in pull-through versus posterior sagittal reconstructions. ( 10470912 )
1999
30
Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies. ( 10211649 )
1999
31
Posterior sagittal anorectoplasty is superior to sacroperineal-sacroabdominoperineal pull-through: a long-term follow-up study in boys with high anorectal anomalies. ( 10052817 )
1999
32
The role of magnetic resonance imaging in the preoperative assessment of anorectal anomalies. ( 9880701 )
1998
33
Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirshsprung's disease and low anorectal anomalies. ( 9856907 )
1998
34
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and high anorectal anomalies. ( 9607503 )
1998
35
Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirschsprung's disease and low anorectal anomalies. ( 9537559 )
1998
36
The role of radiology in children with anorectal anomalies; with particular emphasis on MRI. ( 9518228 )
1998
37
Magnetic resonance imaging of anal sphincters after reconstruction of high or intermediate anorectal anomalies with posterior sagittal anorectoplasty and fistula-preserving technique. ( 9349763 )
1997
38
Anorectal anomalies: anorectal manometric function and anal endosonography in relation to functional outcome. ( 9238120 )
1997
39
A comparison of anal endosonography with electromyography and manometry in high and intermediate anorectal anomalies. ( 9200082 )
1997
40
Rectal ectasia associated with anorectal anomalies. ( 9126769 )
1997
41
Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies. ( 8861471 )
1996
42
Neurovesical dysfunction due to spinal dysraphism in anorectal anomalies. ( 8817209 )
1996
43
Pre-operative MRI of anorectal anomalies in the newborn period. ( 8577548 )
1995
44
Terminal syringomyelia and anorectal anomalies. ( 7782844 )
1995
45
Psychosocial adjustment of children treated for anorectal anomalies. ( 7760251 )
1995
46
Spinal dysraphism detected by magnetic resonance imaging in patients with anorectal anomalies: incidence and clinical significance. ( 7760249 )
1995
47
Anal endosonography and physiology in adolescents with corrected low anorectal anomalies. ( 8201517 )
1994
48
Dysraphic myelodysplasias associated with urogenital and anorectal anomalies: prevalence and types seen with MR imaging. ( 7976901 )
1994
49
The incidence of occult spinal dysraphism and the onset of neurovesical dysfunction in children with anorectal anomalies. ( 7766543 )
1994
50
[Radical surgical correction of anorectal anomalies in children by the method of posterior sagittal anorectoplasty]. ( 7990316 )
1994

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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