Aliases & Classifications for Imperforate Anus

Aliases & Descriptions for Imperforate Anus:

Name: Imperforate Anus 12 50 14
Anal Atresia 12 50 29
Anus, Imperforate 42 69
Anal Stenosis 50 29
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 50

Characteristics:

HPO:

32
imperforate anus:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:10488
ICD10 33 Q42.3
MeSH 42 D001006
NCIt 47 C84784
UMLS 69 C0003466

Summaries for Imperforate Anus

NIH Rare Diseases : 50 imperforate anus is a defect that is present from birth (congenital). the opening to the anus is missing or blocked. the anus is the opening to the rectum through which stools leave the body. imperforate anus may end in a pouch, or open in other structures or be too narrow (stenotic or atresic).although the exact cause 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. symptoms include absence of the first stools within 24 to 48 hours after birth, anal opening in an abnormal place, with stool passing out of the vagina, base of penis, scrotum, or urethra very near the vagina, and swollen belly area. surgery to correct the defect is needed. last updated: 7/27/2016

MalaCards based summary : Imperforate Anus, also known as anal atresia, is related to omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex and chondrodysplasia situs inversus imperforate anus polydactyly, and has symptoms including hearing impairment, hypospadias and anal atresia. An important gene associated with Imperforate Anus is MNX1 (Motor Neuron And Pancreas Homeobox 1). The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and heart, and related phenotypes are Decreased Aire reporter expression and cardiovascular system

Wikipedia : 71 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

Related Diseases for Imperforate Anus

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

(show top 50) (show all 131)
id Related Disease Score Top Affiliating Genes
1 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.3
2 chondrodysplasia situs inversus imperforate anus polydactyly 12.2
3 high anorectal malformation 12.1
4 low anorectal malformation 12.0
5 ankyloblepharon filiforme imperforate anus 12.0
6 intermediate anorectal malformation 12.0
7 isolated anorectal malformation 12.0
8 diphallus rachischisis imperforate anus 12.0
9 townes-brocks syndrome 12.0
10 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 11.9
11 spondylocostal dysostosis with anal atresia and urogenital anomalies 11.9
12 deafness nephritis anorectal malformation 11.9
13 cataract-intellectual disability-anal atresia-urinary defects syndrome 11.9
14 anal atresia, hypospadias, and penoscrotal inversion 11.9
15 pallister-hall syndrome 11.9
16 currarino triad 11.7
17 oeis complex 11.6
18 bifid nose with or without anorectal and renal anomalies 11.5
19 sirenomelia 11.3
20 blepharocheilodontic syndrome 11.3
21 sacrococcygeal teratoma 11.2
22 currarino syndrome 11.2
23 focal segmental glomerulosclerosis 11.1
24 opitz gbbb syndrome, type i 11.1
25 exstrophy of bladder bladder exstrophy and epispadias complex, included 11.1
26 manitoba oculotrichoanal syndrome 11.0
27 ivic syndrome 10.9
28 opitz gbbb syndrome, type ii 10.9
29 opitz-gbbb syndrome 10.9
30 johanson-blizzard syndrome 10.9
31 duane-radial ray syndrome 10.9
32 axenfeld-rieger syndrome, type 1 10.9
33 star syndrome 10.9
34 caudal regression syndrome 10.9
35 omphalocele 10.5
36 urethritis 10.4
37 polydactyly 10.3
38 vaginitis 10.3
39 adenocarcinoma 10.2
40 leukotriene c4 synthase deficiency 10.2 MSX2 RUNX2
41 fecal incontinence 10.2
42 esophagitis 10.2
43 esophageal atresia 10.2
44 ewing sarcoma 10.1 MID1 SPECC1L
45 tooth disease 10.1 KIDINS220 MNX1
46 hypospadias 10.1
47 trichohepatoenteric syndrome 2 10.1 CBFB MSX2 RUNX2
48 primary progressive multiple sclerosis 10.1 MID1 SPECC1L
49 cutaneous leishmaniasis 10.1 MSX2 RECQL4 TWIST1
50 retroperitoneal hemangiopericytoma 10.1 MSX2 SALL4

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



Diseases related to Imperforate Anus

Symptoms & Phenotypes for Imperforate Anus

Human phenotypes related to Imperforate Anus:

32
id 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

GenomeRNAi Phenotypes related to Imperforate Anus according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.8 GLI3 MSX2 SALL4

MGI Mouse Phenotypes related to Imperforate Anus:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 CBFB GLI3 KIDINS220 KMT2D MNX1 MSX2
2 cellular MP:0005384 10.21 RUNX2 SALL1 SALL4 TWIST1 CBFB GLI3
3 growth/size/body region MP:0005378 10.21 CBFB GLI3 KIDINS220 KMT2D MID1 MNX1
4 digestive/alimentary MP:0005381 10.13 CBFB GLI3 MNX1 MSX2 RECQL4 RUNX2
5 embryo MP:0005380 10.11 CBFB GLI3 KMT2D MID1 MSX2 RECQL4
6 craniofacial MP:0005382 10.1 CBFB GLI3 KMT2D MSX2 RECQL4 RUNX2
7 mortality/aging MP:0010768 10.1 CBFB GLI3 KIDINS220 KMT2D MID1 MNX1
8 limbs/digits/tail MP:0005371 9.97 TWIST1 CBFB GLI3 MSX2 RECQL4 RUNX2
9 nervous system MP:0003631 9.9 SALL4 TWIST1 CBFB GLI3 KIDINS220 KMT2D
10 hearing/vestibular/ear MP:0005377 9.8 GLI3 KMT2D MSX2 SALL1 SALL4
11 muscle MP:0005369 9.73 KMT2D MID1 MNX1 MSX2 RUNX2 TWIST1
12 skeleton MP:0005390 9.65 CBFB GLI3 KMT2D MNX1 MSX2 RECQL4
13 vision/eye MP:0005391 9.17 CBFB GLI3 KIDINS220 MSX2 RECQL4 RUNX2

Drugs & Therapeutics for Imperforate Anus

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Hematinics Phase 3
4 Trace Elements Phase 3
5 Vitamin B Complex Phase 3
6 Vitamins Phase 3
7 Micronutrients Phase 3
8 Folate Nutraceutical Phase 3
9 Vitamin B9 Nutraceutical Phase 3
10 Anesthetics Phase 1, Phase 2
11
Lidocaine Approved, Vet_approved 137-58-6 3676
12
Remifentanil Approved 132875-61-7 60815
13
Ropivacaine Approved 84057-95-4 71273 175805
14 Peripheral Nervous System Agents
15 Anesthetics, Local
16 Pharmaceutical Solutions
17 Central Nervous System Depressants
18 lysine Nutraceutical
19 Cola Nutraceutical

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 HAL-RAR Versus Hemorrhoidectomy in the Treatment of Grade III-IV Hemorrhoids. Prospective, Randomized Trial Recruiting NCT02216305 Phase 4
2 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
3 Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
4 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty Completed NCT00883571
5 National Study on the Quality of Life of Patients With Anorectal Malformation Completed NCT02029248
6 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
7 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
8 Ligasure Versus Diathermy Haemorrhoidectomy Under Local Anesthesia Completed NCT00617448
9 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Recruiting NCT02296008
10 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
11 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty Not yet recruiting NCT03174028

Search NIH Clinical Center for Imperforate Anus

Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Imperforate Anus

Genetic tests related to Imperforate Anus:

id Genetic test Affiliating Genes
1 Anal Atresia 29
2 Anal Stenosis 29

Anatomical Context for Imperforate Anus

MalaCards organs/tissues related to Imperforate Anus:

39
Colon, Kidney, Heart, Skin, Testis, Breast, Uterus

Publications for Imperforate Anus

Articles related to Imperforate Anus:

(show top 50) (show all 529)
id Title Authors Year
1
Diagnostic Accuracy of Sonography for Detection of a Fistula on the Birth Day in Neonates With an Imperforate Anus: Comparison of Diagnostic Performance Between Suprapubic and Perineal Approaches. ( 28480562 )
2017
2
Changes in the Distance Between the Distal Rectal Pouch and Perineum From the Birth Day to the Next Day in Neonates With an Imperforate Anus. ( 28127784 )
2017
3
Neurostimulation for fecal incontinence after correction of repair of imperforate anus. ( 28352637 )
2017
4
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies. ( 28480580 )
2017
5
Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience. ( 27722897 )
2017
6
Comparison of Diagnostic Accuracy for the Low-Type Imperforate Anus Between Prone Cross-Table Radiography and Sonography. ( 28407270 )
2017
7
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
8
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. ( 27080330 )
2016
9
Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement. ( 27015939 )
2016
10
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. ( 27176040 )
2016
11
Sonographic Determination of Type in a Fetal Imperforate Anus. ( 27151904 )
2016
12
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. ( 26981954 )
2016
13
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
14
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. ( 27236579 )
2016
15
Neonate with Imperforate Anus and Meconium Streak Along the Penile Shaft. ( 27450347 )
2016
16
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. ( 27138641 )
2016
17
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). ( 26651280 )
2016
18
Imperforate Anus with Fistula Exiting at the Penile Skin. ( 27134930 )
2016
19
Creation of a Neovagina in a Patient with Mayer-Rokitansky-KA1ster-Hauser (MRKH) Syndrome and Previously Corrected Rectovestibular Fistula Concomitant with Imperforate Anus. ( 25444054 )
2015
20
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. ( 25861490 )
2015
21
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
22
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
23
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ( 25746703 )
2015
24
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. ( 26490998 )
2015
25
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
26
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. ( 26627524 )
2015
27
Handle with care - "bucket handle" imperforate anus. ( 25662829 )
2015
28
Teaching NeuroImages: Short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? ( 25870458 )
2015
29
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. ( 24882045 )
2014
30
Hidden mortality of imperforate anus. ( 24647309 )
2014
31
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. ( 25088160 )
2014
32
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
33
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. ( 24985112 )
2014
34
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. ( 25487490 )
2014
35
Mode of delivery in a woman with previous surgery for imperforate anus. ( 24484400 )
2014
36
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
37
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. ( 24777351 )
2014
38
An accessory limb with an imperforate anus. ( 25317418 )
2014
39
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 24703152 )
2014
40
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. ( 25003932 )
2014
41
Breast at back passage-neonatal central perineal accessory breast at the site of an imperforate anus. ( 24515240 )
2014
42
Laparoscopy-assisted surgery for male imperforate anus with rectourethral fistula. ( 23989601 )
2013
43
Rectocutaneous fistula with imperforate anus in an adult. ( 23624461 )
2013
44
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
45
Tailgut cyst in an infant with imperforate anus: a case report. ( 24800024 )
2013
46
A newborn with caudal duplication and duplex imperforate anus. ( 23701807 )
2013
47
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. ( 24285853 )
2013
48
The hidden mortality of imperforate anus. ( 24469477 )
2013
49
Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus. ( 23108388 )
2013
50
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 22640865 )
2013

Variations for Imperforate Anus

ClinVar genetic disease variations for Imperforate Anus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217

Expression for Imperforate Anus

Search GEO for disease gene expression data for Imperforate Anus.

Pathways for Imperforate Anus

GO Terms for Imperforate Anus

Cellular components related to Imperforate Anus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.65 CBFB GLI3 KMT2D MNX1 MSX2 RECQL4
2 heterochromatin GO:0000792 8.62 SALL1 SALL4

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.95 GLI3 MSX2 SALL1 SALL4 TWIST1
2 transcription from RNA polymerase II promoter GO:0006366 9.94 CBFB GLI3 RUNX2 SALL4
3 negative regulation of transcription, DNA-templated GO:0045892 9.89 GLI3 MSX2 RUNX2 SALL1 TWIST1
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.87 CBFB GLI3 KMT2D RUNX2 SALL1 SALL4
5 heart development GO:0007507 9.83 GLI3 SALL1 SALL4
6 in utero embryonic development GO:0001701 9.73 GLI3 KIDINS220 SALL4 TWIST1
7 branching involved in ureteric bud morphogenesis GO:0001658 9.65 GLI3 SALL1
8 regulation of cell differentiation GO:0045595 9.65 GLI3 RUNX2
9 cell maturation GO:0048469 9.64 CBFB RUNX2
10 limb development GO:0060173 9.63 GLI3 SALL1
11 embryonic cranial skeleton morphogenesis GO:0048701 9.63 RUNX2 TWIST1
12 positive regulation of osteoblast differentiation GO:0045669 9.63 GLI3 MSX2 RUNX2
13 odontogenesis GO:0042476 9.62 MSX2 TWIST1
14 stem cell differentiation GO:0048863 9.62 MSX2 RUNX2
15 ventricular septum development GO:0003281 9.61 SALL1 SALL4
16 embryonic hindlimb morphogenesis GO:0035116 9.61 MSX2 TWIST1
17 positive regulation of chondrocyte differentiation GO:0032332 9.6 GLI3 RUNX2
18 negative regulation of smoothened signaling pathway GO:0045879 9.59 GLI3 RUNX2
19 negative regulation of microtubule depolymerization GO:0007026 9.58 MID1 SPECC1L
20 osteoblast development GO:0002076 9.58 MSX2 RUNX2
21 embryonic digestive tract development GO:0048566 9.57 GLI3 SALL1
22 chondrocyte development GO:0002063 9.56 MSX2 RUNX2
23 osteoblast differentiation GO:0001649 9.56 CBFB MSX2 RUNX2 TWIST1
24 embryonic forelimb morphogenesis GO:0035115 9.54 MSX2 RUNX2 TWIST1
25 outer ear morphogenesis GO:0042473 9.52 SALL1 TWIST1
26 cranial suture morphogenesis GO:0060363 9.48 MSX2 TWIST1
27 ossification GO:0001503 9.46 CBFB MSX2 RUNX2 TWIST1
28 frontal suture morphogenesis GO:0060364 9.4 GLI3 MSX2
29 embryonic digit morphogenesis GO:0042733 9.26 GLI3 MSX2 SALL1 TWIST1
30 embryonic limb morphogenesis GO:0030326 8.92 GLI3 MSX2 SALL4 TWIST1
31 regulation of transcription, DNA-templated GO:0006355 10.14 GLI3 KMT2D MNX1 MSX2 RUNX2 SALL1
32 transcription, DNA-templated GO:0006351 10.11 GLI3 KMT2D MNX1 MSX2 RUNX2 SALL1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 CBFB GLI3 KMT2D MSX2 RUNX2 SALL1
2 sequence-specific DNA binding GO:0043565 9.65 GLI3 MNX1 MSX2 SALL1 SALL4
3 transcription factor activity, sequence-specific DNA binding GO:0003700 9.5 CBFB GLI3 MNX1 RUNX2 SALL1 SALL4
4 bHLH transcription factor binding GO:0043425 9.32 RUNX2 TWIST1
5 transcription regulatory region DNA binding GO:0044212 9.02 KMT2D MSX2 RUNX2 SALL1 SALL4

Sources for Imperforate Anus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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