Aliases & Classifications for Imperforate Anus

MalaCards integrated aliases 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:



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 hypospadias, hearing impairment and anal atresia. An important gene associated with Imperforate Anus is MED12 (Mediator Complex Subunit 12). The drugs Folic Acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and spinal cord, and related phenotypes are cardiovascular system and cellular

Wikipedia : 72 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 141)
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 12.1
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 deafness nephritis anorectal malformation 11.9
12 spondylocostal dysostosis with anal atresia and urogenital anomalies 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 11.8
16 currarino syndrome 11.8
17 townes-brocks syndrome 1 11.6
18 oeis complex 11.5
19 bifid nose with or without anorectal and renal anomalies 11.5
20 blepharocheilodontic syndrome 11.4
21 exstrophy of bladder 11.4
22 sirenomelia 11.3
23 sacrococcygeal teratoma 11.2
24 focal segmental glomerulosclerosis 11.1
25 opitz gbbb syndrome, type i 11.1
26 manitoba oculotrichoanal syndrome 11.0
27 johanson-blizzard syndrome 10.9
28 thymic-renal-anal-lung dysplasia 10.9
29 duane-radial ray syndrome 10.9
30 xk aprosencephaly 10.9
31 ivic syndrome 10.9
32 opitz gbbb syndrome, type ii 10.9
33 diarrhea 5, with tufting enteropathy, congenital 10.9
34 male pseudohermaphroditism intellectual disability syndrome, verloes type 10.9
35 opitz-gbbb syndrome 10.9
36 townes-brocks syndrome 2 10.9
37 mental retardation, skeletal dysplasia, and abducens palsy 10.9
38 splenogonadal fusion limb defects micrognatia 10.9
39 axenfeld-rieger syndrome, type 1 10.9
40 star syndrome 10.9
41 caudal regression syndrome 10.9
42 ewing sarcoma 10.6 MID1 SPECC1L
43 kagami-ogata syndrome 10.5 SALL1 SALL4
44 omphalocele 10.5
45 secondary progressive multiple sclerosis 10.5 MID1 SPECC1L
46 urethritis 10.4
47 focal epithelial hyperplasia 10.3 MSX2 SALL4
48 non-syndromic intellectual disability 10.3 SALL1 SALL4
49 polydactyly 10.3
50 night blindness, congenital stationary , 1b, autosomal recessive 10.3 MSX2 RUNX2

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 hypospadias 32 HP:0000047
2 hearing impairment 32 HP:0000365
3 anal atresia 32 HP:0002023
4 ectopic anus 32 HP:0004397

MGI Mouse Phenotypes related to Imperforate Anus:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 KIDINS220 MED12 MNX1 MSX2 RUNX2 SALL1
2 cellular MP:0005384 10.13 CBFB KIDINS220 MED12 MNX1 RECQL4 RUNX2
3 growth/size/body region MP:0005378 10.11 SALL1 SALL4 TWIST1 CBFB KIDINS220 MED12
4 behavior/neurological MP:0005386 10.05 MID1 MNX1 MSX2 SALL1 SALL4 TEF
5 digestive/alimentary MP:0005381 10.03 CBFB MNX1 MSX2 RECQL4 RUNX2 SALL1
6 mortality/aging MP:0010768 10.03 CBFB KIDINS220 MED12 MID1 MNX1 MSX2
7 embryo MP:0005380 10.01 CBFB MED12 MID1 MSX2 RECQL4 SALL1
8 craniofacial MP:0005382 10 CBFB MED12 MSX2 RECQL4 RUNX2 SALL4
9 limbs/digits/tail MP:0005371 9.92 CBFB MED12 MSX2 RECQL4 RUNX2 SALL1
10 nervous system MP:0003631 9.9 CBFB KIDINS220 MED12 MID1 MNX1 MSX2
11 skeleton MP:0005390 9.61 CBFB MED12 MNX1 MSX2 RECQL4 RUNX2
12 vision/eye MP:0005391 9.1 SALL4 CBFB KIDINS220 MSX2 RECQL4 RUNX2

Drugs & Therapeutics for Imperforate Anus

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

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
3 Hematinics Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Vitamin B Complex Phase 3
7 Vitamins 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 Anti-Bacterial Agents
15 Antibiotics, Antitubercular
16 Pharmaceutical Solutions
17 Anesthetics, Local
18 Central Nervous System Depressants
19 Peripheral Nervous System Agents
20 lysine Nutraceutical
21 Cola Nutraceutical

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
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 folic acid;folic acid
3 Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
4 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008
5 National Study on the Quality of Life of Patients With Anorectal Malformation Completed NCT02029248
6 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
7 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty Completed NCT00883571
8 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
9 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
10 Ligasure Versus Diathermy Haemorrhoidectomy Under Local Anesthesia Completed NCT00617448
11 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
12 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, Spinal Cord, Heart, Skin, Testis, Uterus

Publications for Imperforate Anus

Articles related to Imperforate Anus:

(show top 50) (show all 531)
id Title Authors Year
1
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
2
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies. ( 28480580 )
2017
3
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
4
Neurostimulation for fecal incontinence after correction of repair of imperforate anus. ( 28352637 )
2017
5
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
6
Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience. ( 27722897 )
2017
7
Comparison of Diagnostic Accuracy for the Low-Type Imperforate Anus Between Prone Cross-Table Radiography and Sonography. ( 28407270 )
2017
8
Is measuring the residual rectourethral fistula during laparoscopically assisted anorectal pull-through for male high/intermediate type imperforate anus beneficial? Mid-term follow-up. ( 28951012 )
2017
9
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. ( 27176040 )
2016
10
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. ( 26981954 )
2016
11
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
12
Sonographic Determination of Type in a Fetal Imperforate Anus. ( 27151904 )
2016
13
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
14
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
15
Imperforate Anus with Fistula Exiting at the Penile Skin. ( 27134930 )
2016
16
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). ( 26651280 )
2016
17
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. ( 27138641 )
2016
18
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. ( 27236579 )
2016
19
Neonate with Imperforate Anus and Meconium Streak Along the Penile Shaft. ( 27450347 )
2016
20
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. ( 27080330 )
2016
21
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ( 25746703 )
2015
22
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
23
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. ( 26490998 )
2015
24
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
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
Handle with care - "bucket handle" imperforate anus. ( 25662829 )
2015
27
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
28
Teaching NeuroImages: Short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? ( 25870458 )
2015
29
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. ( 25861490 )
2015
30
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. ( 26627524 )
2015
31
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. ( 25487490 )
2014
32
An accessory limb with an imperforate anus. ( 25317418 )
2014
33
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
34
Breast at back passage-neonatal central perineal accessory breast at the site of an imperforate anus. ( 24515240 )
2014
35
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. ( 25088160 )
2014
36
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. ( 24882045 )
2014
37
Hidden mortality of imperforate anus. ( 24647309 )
2014
38
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. ( 24985112 )
2014
39
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 24703152 )
2014
40
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
41
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. ( 24777351 )
2014
42
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. ( 25003932 )
2014
43
Mode of delivery in a woman with previous surgery for imperforate anus. ( 24484400 )
2014
44
Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 22640865 )
2013
45
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
46
Congenital cardiac anomalies and imperforate anus: A hospital's experience. ( 24023469 )
2013
47
Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus. ( 23108388 )
2013
48
A newborn with caudal duplication and duplex imperforate anus. ( 23701807 )
2013
49
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. ( 24285853 )
2013
50
Rectocutaneous fistula with imperforate anus in an adult. ( 23624461 )
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 MED12 MNX1 MSX2 RECQL4 RUNX2
2 heterochromatin GO:0000792 8.62 SALL1 SALL4

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.92 CBFB RUNX2 SALL4 TEF
2 regulation of transcription from RNA polymerase II promoter GO:0006357 9.9 MED12 MNX1 RUNX2 TEF
3 negative regulation of transcription, DNA-templated GO:0045892 9.88 MSX2 RUNX2 SALL1 TWIST1
4 heart development GO:0007507 9.79 MED12 SALL1 SALL4
5 in utero embryonic development GO:0001701 9.77 KIDINS220 SALL4 TWIST1
6 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.7 CBFB MED12 RUNX2 SALL1 SALL4 TEF
7 neural tube closure GO:0001843 9.63 MED12 SALL4 TWIST1
8 cell maturation GO:0048469 9.61 CBFB RUNX2
9 embryonic cranial skeleton morphogenesis GO:0048701 9.58 RUNX2 TWIST1
10 odontogenesis GO:0042476 9.57 MSX2 TWIST1
11 stem cell differentiation GO:0048863 9.56 MSX2 RUNX2
12 ventricular septum development GO:0003281 9.55 SALL1 SALL4
13 embryonic hindlimb morphogenesis GO:0035116 9.54 MSX2 TWIST1
14 embryonic digit morphogenesis GO:0042733 9.54 MSX2 SALL1 TWIST1
15 osteoblast development GO:0002076 9.52 MSX2 RUNX2
16 chondrocyte development GO:0002063 9.51 MSX2 RUNX2
17 embryonic limb morphogenesis GO:0030326 9.5 MSX2 SALL4 TWIST1
18 outer ear morphogenesis GO:0042473 9.48 SALL1 TWIST1
19 embryonic forelimb morphogenesis GO:0035115 9.43 MSX2 RUNX2 TWIST1
20 cranial suture morphogenesis GO:0060363 9.4 MSX2 TWIST1
21 osteoblast differentiation GO:0001649 9.26 CBFB MSX2 RUNX2 TWIST1
22 ossification GO:0001503 8.92 CBFB MSX2 RUNX2 TWIST1
23 regulation of transcription, DNA-templated GO:0006355 10.1 MED12 MNX1 MSX2 RUNX2 SALL1 SALL4
24 transcription, DNA-templated GO:0006351 10.03 MED12 MNX1 MSX2 RUNX2 SALL1 SALL4

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 9.87 CBFB MSX2 RUNX2 SALL1 SALL4 TEF
2 transcription factor binding GO:0008134 9.56 MED12 MSX2 SALL4 TWIST1
3 sequence-specific DNA binding GO:0043565 9.55 MNX1 MSX2 SALL1 SALL4 TEF
4 bHLH transcription factor binding GO:0043425 9.37 RUNX2 TWIST1
5 transcription regulatory region DNA binding GO:0044212 9.26 MSX2 RUNX2 SALL1 SALL4
6 transcription factor activity, sequence-specific DNA binding GO:0003700 9.17 CBFB MNX1 RUNX2 SALL1 SALL4 TEF

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....