MCID: ANS023
MIFTS: 51

Anus, Imperforate

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Anus, Imperforate

MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 57 44 72
Imperforate Anus 12 75 53 29 6 15
Anal Atresia 12 53
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 53
Anorectal Malformation 59
Anal Stenosis 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial



Classifications:



External Ids:

Disease Ontology 12 DOID:10488
OMIM 57 207500
MeSH 44 D001006
NCIt 50 C84784
SNOMED-CT 68 14118000
ICD10 33 Q42.3
MESH via Orphanet 45 C537771
UMLS via Orphanet 73 C3495676
Orphanet 59 ORPHA96346
MedGen 42 C0003466
UMLS 72 C0003466

Summaries for Anus, Imperforate

NIH Rare Diseases : 53 Imperforate anus is a birth defect where the opening to the anus is missing or blocked. The anus, also known as the rectum, is the opening at the end of the intestines through which stool (bowel movement) leaves the body. Imperforate anus may end in a pouch, be too narrow (stenotic or atresic), or open into part of the urinary system, female or male reproductive system, or other system of body Symptoms may include absence of the first stool within 24 to 48 hours after birth, no anal opening, anal opening in an abnormal place, stool coming out from the vagina, base of penis, scrotum, or urethra, and/or swollen belly. Although the exact cause of imperforate anus is not fully understood, it is believed to be due to the abnormal development of the rectum when the embryo is forming inside the womb. Many forms of imperforate anus occur with other birth defects. Imperforate anus may also be part of a syndrome with multiple birth defects. Treatment may include colostomy and surgery to correct the defect. Prognosis depends on the severity and type of imperforate anus and the severity and type of any other birth defects.

MalaCards based summary : Anus, Imperforate, also known as imperforate anus, is related to pallister-hall syndrome and vacterl association. An important gene associated with Anus, Imperforate is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Tgif disruption of Shh signaling. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and liver, and related phenotypes are hearing impairment and hypospadias

Wikipedia : 75 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

More information from OMIM: 207500

Related Diseases for Anus, Imperforate

Diseases related to Anus, Imperforate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 442)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 33.8 SHH GLI3
2 vacterl association 30.5 SHH FOXF1
3 tracheoesophageal fistula 30.4 SHH GLI3
4 ohdo syndrome 30.4 MED12 GLI3
5 esophageal atresia 30.2 TEF SHH GLI3 FOXF1
6 rectal disease 29.3 TEF SALL1 MNX1 KIDINS220
7 holoprosencephaly 29.3 SHH MNX1 GLI3
8 holoprosencephaly 3 29.0 SHH MNX1
9 anus disease 28.9 TEF SALL1 MNX1 KIDINS220 GLI3
10 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 12.5
11 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.5
12 syndromic anorectal malformation 12.4
13 ankyloblepharon filiforme imperforate anus 12.4
14 chondrodysplasia situs inversus imperforate anus polydactyly 12.4
15 diphallus rachischisis imperforate anus 12.4
16 ankyloblepharon filiforme adnatum-imperforate anus syndrome 12.4
17 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.4
18 cataract-intellectual disability-anal atresia-urinary defects syndrome 12.3
19 deafness nephritis anorectal malformation 12.3
20 high isolated anorectal malformation 12.3
21 low isolated anorectal malformation 12.3
22 intermediate isolated anorectal malformation 12.3
23 bifid nose with or without anorectal and renal anomalies 12.2
24 opitz-kaveggia syndrome 12.1
25 oeis complex 12.0
26 blepharocheilodontic syndrome 1 11.9
27 exstrophy of bladder 11.8
28 anorectal anomalies 11.7
29 cloacal exstrophy 11.7
30 sirenomelia 11.7
31 anorectal stricture 11.6
32 sacrococcygeal teratoma 11.6
33 townes-brocks syndrome 1 11.6
34 manitoba oculotrichoanal syndrome 11.5
35 opitz gbbb syndrome, type i 11.5
36 opitz-gbbb syndrome 11.5
37 vacterl association with hydrocephalus 11.4
38 vacterl association, x-linked, with or without hydrocephalus 11.4
39 even-plus syndrome 11.4
40 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.4
41 townes-brocks syndrome 11.4
42 lumbar syndrome 11.4
43 karandikar maria kamble syndrome 11.3
44 opitz gbbb syndrome, type ii 11.3
45 ivic syndrome 11.3
46 johanson-blizzard syndrome 11.3
47 thymic-renal-anal-lung dysplasia 11.3
48 mental retardation, skeletal dysplasia, and abducens palsy 11.3
49 sacral defect with anterior meningocele 11.3
50 duane-radial ray syndrome 11.3

Graphical network of the top 20 diseases related to Anus, Imperforate:



Diseases related to Anus, Imperforate

Symptoms & Phenotypes for Anus, Imperforate

Human phenotypes related to Anus, Imperforate:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 hypospadias 32 HP:0000047
3 anal atresia 32 HP:0002023
4 ectopic anus 32 HP:0004397

Symptoms via clinical synopsis from OMIM:

57
G I:
anal atresia

Clinical features from OMIM:

207500

MGI Mouse Phenotypes related to Anus, Imperforate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 FOXF1 GLI3 GREB1L KIDINS220 MED12 MNX1
2 digestive/alimentary MP:0005381 9.87 FOXF1 GLI3 GREB1L MNX1 PIGV SALL1
3 embryo MP:0005380 9.86 FOXF1 GLI3 GREB1L MED12 PRUNE1 SALL1
4 mortality/aging MP:0010768 9.7 FOXF1 GLI3 GREB1L KIDINS220 MED12 MNX1
5 limbs/digits/tail MP:0005371 9.55 GLI3 MED12 SALL1 SHH SPINT2
6 nervous system MP:0003631 9.32 DSTYK GLI3 GREB1L KIDINS220 MED12 MNX1

Drugs & Therapeutics for Anus, Imperforate

Drugs for Anus, Imperforate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 143 6006
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Micronutrients Phase 3
4 Trace Elements Phase 3
5 Hematinics Phase 3
6 Vitamins Phase 3
7 Folate Phase 3
8 Vitamin B9 Phase 3
9 Vitamin B Complex Phase 3
10 Nutrients Phase 3
11
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
12 Hormones Phase 1
13 Calcium, Dietary Phase 1
14 Bone Density Conservation Agents Phase 1
15
tannic acid Approved 1401-55-4
16
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
17
Remifentanil Approved 132875-61-7 60815
18
Lidocaine Approved, Vet_approved 137-58-6 3676
19
Ropivacaine Approved 84057-95-4 71273 175805
20
Lactulose Approved 4618-18-2 11333
21
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
22
Aspartic acid Approved, Nutraceutical 56-84-8 5960
23 Anesthetics
24 Central Nervous System Depressants
25 Anesthetics, Local
26 Peripheral Nervous System Agents
27 Anti-Bacterial Agents
28 Antibiotics, Antitubercular
29 Hemostatics
30 Chinese Salvia
31 N-Methylaspartate
32 diuretics
33 Liver Extracts
34 Astragalus
35 Cola

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Prospective and Randomized Trial Comparing Dopplper-Guided Transanal Hemorrhoid Artery Ligation With Recto-anal Repair (HAL-RAR) Versus Excisional Hemorrhoidectomy for the Treatment of Grade III-IV Hemorrhoids Unknown status NCT02216305 Phase 4
2 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
3 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
4 Therapeutic Effect of Stem Cells in Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
5 Prevention of Myopia of Prematurity by Calcium Supplementation in a Randomized Controlled Pilot Trial Completed NCT00892476 Phase 1
6 The Effect of Combined General-epidural vs General Anaesthesia on Postoperative Intestinal Function Recovery and Infection in Neonates and Infants Undergoing Gastrointestinal Surgery: a Prospective, Randomised, Controlled Trial Unknown status NCT03056261
7 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
8 National Study on the Quality of Life of Patients With Anorectal Malformation (MARQOL) Completed NCT02029248
9 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
10 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty in Treatment of Anal Stenosis: A Prospective Randomized Study Completed NCT00883571
11 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008
12 Randomized Controlled Trial: Rapid Learning Healthcare System in Pediatric Surgery Completed NCT03131180
13 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
14 Ligasure™ Versus Diathermy Haemorrhoidectomy Under Spinal or Local Anaesthesia With Ropivacaine. A Randomized Study With One Year Follow-up Completed NCT00617448
15 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Recruiting NCT03666767
16 Study on the Optimal Strategy for Acute-on-chronic Liver Failure Combined With Traditional Chinese and Modern Medicine: a Multi-center, Randomized and Controlled Study Recruiting NCT03577938 Chinese herbal medicine
17 Upper Rectal Artery Embolization in the Treatment of Hemorrhoidal Disease Recruiting NCT03402282
18 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations : A Comparative Study Not yet recruiting NCT03174028
19 Long-term Outcome in Patients Operated for Congenital Anorectal Malformations Not yet recruiting NCT02624232

Search NIH Clinical Center for Anus, Imperforate

Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Anus, Imperforate

Genetic tests related to Anus, Imperforate:

# Genetic test Affiliating Genes
1 Imperforate Anus 29

Anatomical Context for Anus, Imperforate

MalaCards organs/tissues related to Anus, Imperforate:

41
Colon, Kidney, Liver, Spinal Cord, Heart, Bone, Eye

Publications for Anus, Imperforate

Articles related to Anus, Imperforate:

(show top 50) (show all 1386)
# Title Authors PMID Year
1
Familial imperforate anus: Report of a family. 38 8
4852015 1974
2
Imperforate anus and heredity. 38 8
5505692 1970
3
Altered expression of caveolin-1 in the colon of patients with Hirschsprung's disease. 38
31256294 2019
4
Altered ryanodine receptor gene expression in Hirschsprung's disease. 38
31263958 2019
5
Gastrointestinal disorders in Down syndrome. 38
31183986 2019
6
Relationships between stigma, social support, and distress in caregivers of Chinese children with imperforate anus: A multicenter cross-sectional study. 38
31378408 2019
7
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 38
31074124 2019
8
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program. 38
31042330 2019
9
Goldenhar Syndrome with Imperforate Anus: New Association or Coincidence! 38
31302873 2019
10
One stage rotation flap scrotoplasty and orchidopexy for the correction of ectopic scrotum: A case report. 38
31061811 2019
11
Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound. 38
30280402 2019
12
Spinal Column Shortening for Secondary Tethered Cord Syndrome in Children: 2-Dimensional Operative Video. 38
30169877 2019
13
Primary Posterior Sagittal Anorectoplasty Outcomes for Rectovestibular and Perineal Fistulas Using an Accelerated Pathway: a Single Institution Study. 38
31204055 2019
14
Prenatal diagnosis of congenital megalourethra with imperforate anus. 38
31014306 2019
15
Atresia Ani with Imperforate Anus in a Common Marmoset (Callithrix jacchus). 38
30902118 2019
16
A Case of Sirenomelia: A Mermaid Baby. 38
30956482 2019
17
A rare case of laryngeal cleft in association with VACTERL and malrotation. 38
30546815 2019
18
Surgical reconstruction for congenital tracheal malformation and pulmonary artery sling. 38
30823928 2019
19
How to establish a successful bowel management programme in children: a tertiary paediatric centre experience. 38
29725927 2019
20
Altered expression of KCNG3 and KCNG4 in Hirschsprung's disease. 38
30386900 2019
21
Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review. 38
30367985 2019
22
Pallister-Hall Syndrome Presenting in Adolescence. 38
31011455 2019
23
Contrast-Enhanced Colosonography for the Evaluation of Children With an Imperforate Anus. 38
30693972 2019
24
Imperforate Anus and Rectourethral Fistula in a Female. 38
31259139 2019
25
Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease. 38
30386899 2019
26
Sirenomelia in twin pregnancy: A case report and literature review. 38
30572488 2018
27
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 38
30380203 2018
28
Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. 38
30486853 2018
29
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. 38
30095346 2018
30
Isolated Fetal Cardiac Abnormalities: Are They Really Isolated? 38
30510841 2018
31
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. 38
30277838 2018
32
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 38
30377551 2018
33
Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism. 38
30094854 2018
34
Scintigraphic evaluation of colonic transit in children with constipation using 67Ga-citrate. 38
30505222 2018
35
Trisomy 22 with long spina bifida occulta: A case report. 38
30278506 2018
36
Intraoperative anesthetic management of an infant with a bridging bronchus: A case report. 38
30035360 2018
37
Continence after posterior sagittal anorectoplasty for anorectal malformations: comparison of different scores. 38
29370894 2018
38
Successful pregnancy and delivery after simultaneous islet-kidney transplantation. 38
29673064 2018
39
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations. 38
29704291 2018
40
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. 38
29704304 2018
41
Use of the 5-mm Endoscopic Stapler for Ligation of Fistula in Laparoscopic-Assisted Repair of Anorectal Malformation. 38
29446703 2018
42
Case of urethral duplication seen by voiding urosonography. 38
29216522 2018
43
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 38
29278735 2018
44
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). 38
29575628 2018
45
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. 38
29112640 2018
46
[Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery]. 38
28081906 2018
47
Mermaid Syndrome: A Case Report in Mauritius. 38
29686952 2018
48
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report. 38
29125001 2018
49
Augmented-pressure distal colostogram: the most important diagnostic tool for planning definitive surgical repair of anorectal malformations in boys. 38
28840291 2018
50
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. 38
29416290 2018

Variations for Anus, Imperforate

ClinVar genetic disease variations for Anus, Imperforate:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MED12 NM_005120.3(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 X:70347217-70347217 X:71127367-71127367
2 CTNNB1 NM_001904.4(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic rs1553632357 3:41277912-41277912 3:41236421-41236421

Expression for Anus, Imperforate

Search GEO for disease gene expression data for Anus, Imperforate.

Pathways for Anus, Imperforate

Pathways related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.58 SHH GLI3

GO Terms for Anus, Imperforate

Biological processes related to Anus, Imperforate according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 SHH SALL1 MED12 GLI3 FOXF1
2 in utero embryonic development GO:0001701 9.87 KIDINS220 GLI3 FOXF1
3 lung development GO:0030324 9.79 SHH GLI3 FOXF1
4 smoothened signaling pathway GO:0007224 9.71 SHH GLI3 FOXF1
5 neural tube development GO:0021915 9.7 MED12 GLI3
6 dorsal/ventral pattern formation GO:0009953 9.7 SHH GLI3
7 positive regulation of Wnt signaling pathway GO:0030177 9.7 SHH SALL1
8 embryonic digit morphogenesis GO:0042733 9.7 SHH SALL1 GLI3
9 positive regulation of protein import into nucleus GO:0042307 9.69 SHH GLI3
10 oligodendrocyte differentiation GO:0048709 9.69 SHH GLI3
11 T cell differentiation in thymus GO:0033077 9.68 SHH GLI3
12 neuron fate commitment GO:0048663 9.68 SHH GLI3
13 developmental growth GO:0048589 9.68 SHH GLI3
14 pancreas development GO:0031016 9.68 SHH FOXF1
15 branching morphogenesis of an epithelial tube GO:0048754 9.67 SHH GLI3
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 SHH FOXF1
17 oligodendrocyte development GO:0014003 9.67 SHH MED12
18 anatomical structure development GO:0048856 9.66 SHH GLI3
19 renal system development GO:0072001 9.66 SHH FOXF1
20 anatomical structure formation involved in morphogenesis GO:0048646 9.65 SHH GLI3
21 positive regulation of neuroblast proliferation GO:0002052 9.65 SHH GLI3
22 spinal cord motor neuron differentiation GO:0021522 9.64 SHH GLI3
23 lung morphogenesis GO:0060425 9.64 SHH FOXF1
24 male genitalia development GO:0030539 9.63 SHH GREB1L
25 epithelial tube branching involved in lung morphogenesis GO:0060441 9.63 SHH FOXF1
26 limb development GO:0060173 9.63 SHH SALL1 GLI3
27 embryonic morphogenesis GO:0048598 9.62 SHH GLI3
28 prostate gland development GO:0030850 9.62 SHH GLI3
29 kidney development GO:0001822 9.62 SHH SALL1 GREB1L GLI3
30 negative thymic T cell selection GO:0045060 9.61 SHH GLI3
31 positive regulation of alpha-beta T cell differentiation GO:0046638 9.6 SHH GLI3
32 embryonic foregut morphogenesis GO:0048617 9.59 SHH FOXF1
33 metanephros development GO:0001656 9.58 SHH GREB1L GLI3
34 artery development GO:0060840 9.57 SHH GLI3
35 respiratory tube development GO:0030323 9.56 SHH FOXF1
36 lung lobe morphogenesis GO:0060463 9.55 SHH FOXF1
37 embryonic organ development GO:0048568 9.54 SHH MED12 GLI3
38 spinal cord dorsal/ventral patterning GO:0021513 9.51 SHH GLI3
39 trachea development GO:0060438 9.49 SHH FOXF1
40 hindgut morphogenesis GO:0007442 9.48 SHH GLI3
41 negative regulation of alpha-beta T cell differentiation GO:0046639 9.43 SHH GLI3
42 embryonic digestive tract morphogenesis GO:0048557 9.43 SHH GLI3 FOXF1
43 heart development GO:0007507 9.35 SHH SALL1 MED12 GLI3 FOXF1
44 embryonic digestive tract development GO:0048566 9.33 SALL1 GLI3 FOXF1
45 branching involved in ureteric bud morphogenesis GO:0001658 8.92 SHH SALL1 GREB1L GLI3
46 regulation of transcription, DNA-templated GO:0006355 10.13 TEF SHH SALL1 MNX1 GLI3 FOXF1
47 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 TEF SHH SALL1 MED12 GLI3 FOXF1

Molecular functions related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.46 TEF MNX1 GLI3 FOXF1
2 DNA-binding transcription factor activity GO:0003700 9.35 TEF SALL1 MNX1 GLI3 FOXF1
3 beta-catenin binding GO:0008013 8.8 SALL1 MED12 GLI3

Sources for Anus, Imperforate

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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