Aliases & Classifications for Anorectal Anomalies

MalaCards integrated aliases for Anorectal Anomalies:

Name: Anorectal Anomalies 57 74 54

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
anorectal anomalies:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 107100
MedGen 41 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). Affiliated tissues include colon, spinal cord and testis, and related phenotypes are anal atresia and rectovaginal fistula

Wikipedia : 74 Anorectal anomalies are congenital malformations of the anus and rectum. One anal anomaly, imperforate... more...

More information from OMIM: 107100

Related Diseases for Anorectal Anomalies

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphrodism anorectal anomalies 11.1
2 46,xx disorder of sex development-anorectal anomalies syndrome 11.1
3 constipation 10.4
4 anus, imperforate 10.3
5 kabuki syndrome 1 10.1
6 syringomyelia, noncommunicating isolated 10.1
7 tethered spinal cord syndrome 10.1
8 syringomyelia 10.1
9 down syndrome 10.0
10 renal hypodysplasia/aplasia 1 10.0
11 vesicoureteral reflux 1 10.0
12 urinary tract infection 10.0
13 esophageal atresia 10.0
14 acute cystitis 10.0
15 irf6-related disorders 10.0
16 vaginal atresia 10.0
17 cleft palate, isolated 9.8
18 intussusception 9.8
19 lipomatosis, multiple 9.8
20 pelvic organ prolapse 9.8
21 digeorge syndrome 9.8
22 tracheoesophageal fistula with or without esophageal atresia 9.8
23 vater/vacterl association 9.8
24 volvulus of midgut 9.8
25 enterocolitis 9.8
26 mckusick-kaufman syndrome 9.8
27 colonic atresia 9.8
28 sacral defect with anterior meningocele 9.8
29 polydactyly 9.8
30 propionic acidemia 9.8
31 lipomyelomeningocele 9.8
32 anal fistula 9.8
33 cloacal exstrophy 9.8
34 pleomorphic lipoma 9.8
35 hydronephrosis 9.8
36 hypoparathyroidism 9.8
37 megacolon 9.8
38 detrusor sphincter dyssynergia 9.8
39 neutropenia 9.8
40 diarrhea 9.8
41 vacterl association 9.8
42 ectropion 9.8
43 vaginitis 9.8
44 orchitis 9.8
45 agammaglobulinemia 9.8
46 intestinal obstruction 9.8
47 perinatal necrotizing enterocolitis 9.8
48 urethral diverticulum 9.8
49 chromosomal triplication 9.8
50 sirenomelia 9.8

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:

31
# Description HPO Frequency HPO Source Accession
1 anal atresia 31 HP:0002023
2 rectovaginal fistula 31 HP:0000143

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
G U:
rectovaginal fistula

G I:
imperforate anus
anorectal stenosis

Clinical features from OMIM®:

107100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Anorectal Anomalies

Search Clinical Trials , NIH Clinical Center for Anorectal Anomalies

Genetic Tests for Anorectal Anomalies

Anatomical Context for Anorectal Anomalies

MalaCards organs/tissues related to Anorectal Anomalies:

40
Colon, Spinal Cord, Testis, Brain, Heart, Smooth Muscle, Small Intestine

Publications for Anorectal Anomalies

Articles related to Anorectal Anomalies:

(show top 50) (show all 323)
# Title Authors PMID Year
1
Inheritance of familial congenital isolated anorectal malformations: case report and review. 57
9268096 1997
2
Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity? 57
6627722 1983
3
Ano-rectal abnormalities as a congenital familial incidence. 57
13424267 1957
4
MNX1 (HLXB9) mutations in Currarino patients. 61 54
19853743 2009
5
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. 54 61
16254195 2006
6
Posterior cloaca: A urogenital rather than anorectal anomaly. 61
33549475 2021
7
Rectal Prolapse After Laparoscopically Assisted Anorectoplasty for Anorectal Malformations. 61
33085916 2020
8
The Effect of Multiple Surgeries on Psychosocial Outcomes in Pediatric Patients: A Scoping Review. 61
32040002 2020
9
Currarino syndrome in an elderly man: Multimodality imaging findings. 61
32817777 2020
10
Anorectal anomalies in the female: Highlights on surgical management. 61
33039105 2020
11
Urinary Tract Anomalies in Patients With Anorectal Malformations: The Role of Screening and Clinical Follow-Up. 61
32525076 2020
12
Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9. 61
32550955 2020
13
Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review. 61
32616040 2020
14
Variations in the Detection of Anorectal Anomalies at Birth among European Cities. 61
31039595 2020
15
Surgical volume of simple tethered spinal cord releases: review of a large pediatric neurosurgical service experience. 61
32244206 2020
16
Currarino syndrome presenting as a cerebrospinal fluid leak from the dermal sinus tract: case report. 61
32114544 2020
17
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. 61
30277838 2020
18
The cloacal anomalies: Anatomical insights through a complex spectrum. 61
31072675 2019
19
Fetal Congenital Anomaly in Tertiary Hospital in Lagos, South-West Nigeria: A Review of Presentation and its Outcome. 61
30924113 2019
20
Late Diagnosis of Complete Colonic and Rectal Duplication in a Girl with an Anorectal Malformation. 61
31285983 2019
21
Currarino Triad: Importance of Preoperative Magnetic Resonance Imaging. 61
31763131 2019
22
Associated anomalies in cases with anorectal anomalies. 61
30548801 2018
23
Whole exome sequencing reveals rare variants linked to congenital pouch colon. 61
29703930 2018
24
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. 61
29112640 2018
25
The Currarino triad: What pediatric surgeons need to know. 61
28065719 2017
26
Surgical approach for fecal incontinence with a patulous anus after transanal pull-through for Hirschsprung disease. 61
28242026 2017
27
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report. 61
28393221 2017
28
Anorectal Agenesis with Rectovaginal Fistula: A Rare/Regional Variant. 61
28413300 2017
29
The Utility of Magnetic Resonance Imaging in the Evaluation of Accessory Scrotum in the Newborn. 61
27318263 2017
30
LAPAROSCOPICALLY ASSISTED ANORECTOPLASTY AND THE USE OF THE BIPOLAR DEVICE TO SEAL THE RECTAL URINARY FISTULA. 61
27759786 2016
31
Functional Outcome of Anorectal Malformations and Associated Anomalies in Era of Krickenbeck Classification. 61
26975952 2016
32
Early reported rectal sensation predicts continence in anorectal anomalies. 61
26563529 2016
33
Major neonatal surgery: psychosocial consequence of the patient and mothers. 61
26589187 2016
34
Spontaneous Rupture of Adenocarcinoma of Meckel's Diverticulum- A Rare Entity. 61
26672729 2015
35
[Descending perineum syndrome in children: Pathophysiology and diagnosis]. 61
30247013 2015
36
Register based study of anorectal anomalies over 26 years: Associated anomalies, prevalence, and trends. 61
26173562 2015
37
[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract]. 61
25872996 2015
38
Colorectal microcarcinoids in association with long-term exposure to urinary content: a case report and review of the literature. 61
25922778 2015
39
Mutations in the human UBR1 gene and the associated phenotypic spectrum. 61
24599544 2014
40
Congenital perineal mass with cervovaginal duplication: a case report and literature review. 61
24075087 2014
41
Peristeen integrated transanal irrigation system successfully treats faecal incontinence in children. 61
24439630 2014
42
Experience of the MACE procedure at a regional pediatric surgical unit: a 15-year retrospective review. 61
24443094 2014
43
Multicenter retrospective comparative study of laparoscopically assisted and conventional anorectoplasty for male infants with rectoprostatic urethral fistula. 61
24314175 2013
44
Long-term follow-up of paediatric anorectal anomalies and the role and efficacy of parent support groups for such conditions. 61
23948813 2013
45
Presentation of incomplete Currarino triad in a 12-day-old patient with vomiting: a case report. 61
23823266 2013
46
Fraser syndrome: epidemiological study in a European population. 61
23532946 2013
47
Anorectal anomalies in adults-laparoscopic management and review of literature. 61
23904718 2012
48
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. 61
22821084 2012
49
Accessory scrotum attached to a peduncular perineal lipoma. 61
21692841 2012
50
Abnormalities of digestive tract innervation in rat fetus treated with ethylenethiourea. 61
22460255 2012

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....