Aliases & Classifications for Anorectal Anomalies

MalaCards integrated aliases for Anorectal Anomalies:

Name: Anorectal Anomalies 57 75 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 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 : 75 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 62)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphrodism anorectal anomalies 12.3
2 46,xx disorder of sex development-anorectal anomalies syndrome 12.3
3 constipation 10.4
4 anus, imperforate 10.3
5 kabuki syndrome 1 10.1
6 syringomyelia, noncommunicating isolated 10.1
7 esophageal atresia 10.1
8 syringomyelia 10.1
9 47,xyy 10.1
10 tracheoesophageal fistula with or without esophageal atresia 10.0
11 down syndrome 10.0
12 renal hypodysplasia/aplasia 1 10.0
13 vesicoureteral reflux 1 10.0
14 sacral defect with anterior meningocele 10.0
15 intestinal obstruction 10.0
16 irf6-related disorders 10.0
17 sirenomelia 10.0
18 vaginal atresia 10.0
19 pfeiffer syndrome 9.8
20 cleft palate, isolated 9.8
21 intussusception 9.8
22 lipomatosis, multiple 9.8
23 polydactyly, postaxial, type a1 9.8
24 pelvic organ prolapse 9.8
25 digeorge syndrome 9.8
26 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
27 enterocolitis 9.8
28 mckusick-kaufman syndrome 9.8
29 colonic atresia 9.8
30 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 9.8
31 polydactyly 9.8
32 propionic acidemia 9.8
33 lipomyelomeningocele 9.8
34 pulmonary hypertension 9.8
35 anal fistula 9.8
36 cloacal exstrophy 9.8
37 pleomorphic lipoma 9.8
38 hypospadias 9.8
39 hydronephrosis 9.8
40 hypoparathyroidism 9.8
41 megacolon 9.8
42 detrusor sphincter dyssynergia 9.8
43 neutropenia 9.8
44 acute cystitis 9.8
45 diarrhea 9.8
46 vacterl association 9.8
47 disease of mental health 9.8
48 thrombocytopenia 9.8
49 vaginitis 9.8
50 orchitis 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:

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

Symptoms via clinical synopsis from OMIM:

57
G U:
rectovaginal fistula

G I:
imperforate anus
anorectal stenosis

Clinical features from OMIM:

107100

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:

41
Colon, Spinal Cord, Testis, Brain, Heart, Small Intestine, Smooth Muscle

Publications for Anorectal Anomalies

Articles related to Anorectal Anomalies:

(show top 50) (show all 314)
# Title Authors PMID Year
1
Inheritance of familial congenital isolated anorectal malformations: case report and review. 8
9268096 1997
2
Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity? 8
6627722 1983
3
Ano-rectal abnormalities as a congenital familial incidence. 8
13424267 1957
4
MNX1 (HLXB9) mutations in Currarino patients. 9 38
19853743 2009
5
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. 9 38
16254195 2006
6
The cloacal anomalies: Anatomical insights through a complex spectrum. 38
31072675 2019
7
Variations in the Detection of Anorectal Anomalies at Birth among European Cities. 38
31039595 2019
8
Late Diagnosis of Complete Colonic and Rectal Duplication in a Girl with an Anorectal Malformation. 38
31285983 2019
9
Fetal Congenital Anomaly in Tertiary Hospital in Lagos, South-West Nigeria: A Review of Presentation and its Outcome. 38
30924113 2019
10
Associated anomalies in cases with anorectal anomalies. 38
30548801 2018
11
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. 38
30277838 2018
12
Whole exome sequencing reveals rare variants linked to congenital pouch colon. 38
29703930 2018
13
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. 38
29112640 2018
14
The Currarino triad: What pediatric surgeons need to know. 38
28065719 2017
15
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report. 38
28393221 2017
16
Surgical approach for fecal incontinence with a patulous anus after transanal pull-through for Hirschsprung disease. 38
28242026 2017
17
Anorectal Agenesis with Rectovaginal Fistula: A Rare/Regional Variant. 38
28413300 2017
18
The Utility of Magnetic Resonance Imaging in the Evaluation of Accessory Scrotum in the Newborn. 38
27318263 2017
19
LAPAROSCOPICALLY ASSISTED ANORECTOPLASTY AND THE USE OF THE BIPOLAR DEVICE TO SEAL THE RECTAL URINARY FISTULA. 38
27759786 2016
20
Functional Outcome of Anorectal Malformations and Associated Anomalies in Era of Krickenbeck Classification. 38
26975952 2016
21
Major neonatal surgery: psychosocial consequence of the patient and mothers. 38
26589187 2016
22
Early reported rectal sensation predicts continence in anorectal anomalies. 38
26563529 2016
23
Spontaneous Rupture of Adenocarcinoma of Meckel's Diverticulum- A Rare Entity. 38
26672729 2015
24
[Descending perineum syndrome in children: Pathophysiology and diagnosis]. 38
30247013 2015
25
Register based study of anorectal anomalies over 26 years: Associated anomalies, prevalence, and trends. 38
26173562 2015
26
[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract]. 38
25872996 2015
27
Colorectal microcarcinoids in association with long-term exposure to urinary content: a case report and review of the literature. 38
25922778 2015
28
Mutations in the human UBR1 gene and the associated phenotypic spectrum. 38
24599544 2014
29
Peristeen integrated transanal irrigation system successfully treats faecal incontinence in children. 38
24439630 2014
30
Congenital perineal mass with cervovaginal duplication: a case report and literature review. 38
24075087 2014
31
Experience of the MACE procedure at a regional pediatric surgical unit: a 15-year retrospective review. 38
24443094 2014
32
Multicenter retrospective comparative study of laparoscopically assisted and conventional anorectoplasty for male infants with rectoprostatic urethral fistula. 38
24314175 2013
33
Long-term follow-up of paediatric anorectal anomalies and the role and efficacy of parent support groups for such conditions. 38
23948813 2013
34
Presentation of incomplete Currarino triad in a 12-day-old patient with vomiting: a case report. 38
23823266 2013
35
Fraser syndrome: epidemiological study in a European population. 38
23532946 2013
36
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. 38
22821084 2012
37
Anorectal anomalies in adults-laparoscopic management and review of literature. 38
23904718 2012
38
Accessory scrotum attached to a peduncular perineal lipoma. 38
21692841 2012
39
Abnormalities of digestive tract innervation in rat fetus treated with ethylenethiourea. 38
22460255 2012
40
US assessment of neonatal bowel (necrotizing enterocolitis excluded). 38
22395723 2012
41
A comparison of clinical protocols for assessing postoperative fecal continence in anorectal malformation. 38
22009204 2012
42
A female patient with congenital pouch colon (CPC): a case report. 38
22191141 2011
43
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. 38
21042811 2011
44
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 38
21493957 2011
45
Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. 38
21683231 2011
46
Therapeutic strategy for persistent cloaca: the efficacy of antegrade continent enema as a salvage surgery. 38
21240612 2011
47
Ambiguous genitalia: two decades of experience. 38
21623059 2011
48
The right sided syndrome, congenital absence of kidney and testis. 38
21422633 2011
49
[Anorectal anomaly and maternal care]. 38
21468506 2011
50
De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. 38
21709416 2011

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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