Aliases & Classifications for Anorectal Atresia

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Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek
See all sources

Aliases & Descriptions for Anorectal Atresia:

Name: Anorectal Atresia 45
Early Onset Schizophrenia 65
Anorectal Malformation 45
Anorectal Stricture 65
Anorectal Anomalies 47
 
Anorectal Stenosis 45
Anus, Imperforate 65
Anorectal Anomaly 65
Anal Atresia 45


Classifications:



Summaries for Anorectal Atresia

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Wikipedia:68 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

MalaCards based summary: Anorectal Atresia, also known as early onset schizophrenia, is related to high anorectal malformation and low anorectal malformation, and has symptoms including autosomal dominant inheritance, rectovaginal fistula and anal atresia. An important gene associated with Anorectal Atresia is MNX1 (Motor Neuron And Pancreas Homeobox 1). Affiliated tissues include colon and uterus.

Related Diseases for Anorectal Atresia

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1high anorectal malformation10.6
2low anorectal malformation10.6
3cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction10.5
4deafness nephritis anorectal malformation10.5
5intermediate anorectal malformation10.5
6vacterl association10.5
7urethral diverticulum10.4
8esophagitis10.4
9constipation10.4
10currarino triad10.4
11imperforate anus10.4
12esophageal atresia10.4
13tracheoesophageal fistula10.4
14pseudohermaphrodism anorectal anomalies10.4
1546,xx disorder of sex development - anorectal anomalies10.4
16vater association with macrocephaly and ventriculomegaly10.3
17cat eye syndrome10.3
18vacterl association, x-linked10.3
19cataract - intellectual disability - anal atresia - urinary defects10.3
20orchitis10.3
21anus disease10.3
22teratoma10.3
23anorectal stricture10.3
24pallister-hall syndrome10.2
25coloboma10.2
26synostosis10.2
27renal dysplasia10.2
28spondylocostal dysostosis - anal and genitourinary malformations10.2
29bifid nose with or without anorectal and renal anomalies10.2
30sacrococcygeal teratoma10.2
31neurogenic bladder10.2
32rectal prolapse10.2
33hypospadias10.2
34duodenitis10.2
35bifid nose10.2
36colonic atresia10.2
37vaginal atresia10.2
38vaginitis10.1
39prune belly syndrome10.1
40fanconi anemia, complementation group l10.1
41culler-jones syndrome10.1
42focal facial dermal dysplasia 3, setleis type10.1
43axenfeld-rieger syndrome, type 110.1
44charge syndrome10.1
45trypsinogen deficiency10.1
46currarino syndrome10.1
47nijmegen breakage syndrome10.1
48ritscher-schinzel syndrome10.1
49baller-gerold syndrome10.1
50hyperphosphatasia with mental retardation syndrome 210.1

Graphical network of the top 20 diseases related to Anorectal Atresia:



Diseases related to anorectal atresia

Symptoms for Anorectal Atresia

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HPO human phenotypes related to Anorectal Atresia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 rectovaginal fistula HP:0000143
3 anal atresia HP:0002023

Drugs & Therapeutics for Anorectal Atresia

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Drugs for Anorectal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceuticalPhase 3285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2Vitamin B ComplexPhase 32775
3Vitamin B9NutraceuticalPhase 32851
4Folinic AcidNutraceuticalPhase 32498
5FolateNutraceuticalPhase 32851

Interventional clinical trials:

idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionActive, not recruitingNCT01244347Phase 3
2National Study on the Quality of Life of Patients With Anorectal MalformationCompletedNCT02029248
3Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord AbnormalitiesCompletedNCT00909415
43D High Resolution Anorectal Manometry in Children After Surgery for Anorectal DisordersRecruitingNCT02296008
5A Multi Center Clinical Trial of Rph With the Simplified Milligan-Morgan Surgery on Treatment of Mixed HemorrhoidsEnrolling by invitationNCT02306421
6Long-term Outcome in Patients With Anorectal MalformationsNot yet recruitingNCT02624232

Search NIH Clinical Center for Anorectal Atresia

Genetic Tests for Anorectal Atresia

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Anatomical Context for Anorectal Atresia

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MalaCards organs/tissues related to Anorectal Atresia:

33
Colon, Uterus

Animal Models for Anorectal Atresia or affiliated genes

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Publications for Anorectal Atresia

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Articles related to Anorectal Atresia:

(show all 31)
idTitleAuthorsYear
1
Three-dimensional HDlive rendering image of the fetal perineum in anorectal atresia. (26434560)
2015
2
Anorectal atresia and variants at predicted regulatory sites in candidate genes. (23127126)
2013
3
Anorectal atresia with gross terminal colonic distension in Africa. (23887770)
2013
4
Congenital anorectal atresia: MR imaging of late post-operative appearances in adult patients with anal incontinence. (23807570)
2013
5
Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. (21728206)
2012
6
First trimester sonographic features of anorectal atresia: report of two cases. (21706502)
2011
7
Spatial distribution patterns of anorectal atresia/stenosis in China: use of two-dimensional graph-theoretical clustering. (19522031)
2009
8
Sonographic features of anorectal atresia at 12 weeks. (19562634)
2009
9
Maternal exposure to tobacco smoke, alcohol and caffeine, and risk of anorectal atresia: National Birth Defects Prevention Study 1997-2003. (19228309)
2009
10
Changing antenatal sonographic appearance of anorectal atresia from first to third trimesters. (16731896)
2006
11
An exceptional type of anorectal malformation: anorectal atresia with posterior fistula in a newborn male. (16481236)
2006
12
Anorectal atresia treated with non-continent pull through and artificial bowel sphincter: a case report. (15868499)
2005
13
A rare coexistence of urogenital anomalies, anorectal atresia and skeletal defects. (15456212)
2004
14
The importance of intraoperative evaluation in the management of anorectal atresia. (12516531)
2002
15
Prenatal diagnosis of isolated anorectal atresia with colonic perforation. (11776504)
2001
16
Anorectal atresia. An experimental model in the rat. (11475117)
2001
17
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. (10204846)
1999
18
Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one-stage procedure for anorectal atresia associated with ambiguous genitalia. (10342123)
1999
19
An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus. (10235335)
1999
20
Adults born with high anorectal atresia--how do they manage? (8646960)
1996
21
Surgical correction of anorectal atresia and rectovaginal fistula in an alpaca cria. (8941413)
1996
22
Biliary and anorectal atresia. (8229577)
1993
23
Anorectal atresia presenting as an abdominopelvic mass. (2259001)
1990
24
Intraluminal colonic calcifications associated with anorectal atresia. Prenatal sonographic detection. (2197423)
1990
25
Anorectal atresia. (3228580)
1988
26
Anorectal atresia: prenatal sonographic diagnosis. (3300224)
1987
27
Enterolithiasis in two neonates with oesophageal and anorectal atresia. (3627862)
1987
28
High anorectal atresia - surgical treatment through a sacro-coccygeal-perineal approach. (6649913)
1983
29
Anorectal atresia with rectocloacal fistula. (5149088)
1971
30
Anorectal atresia with a loop of dilated small bowel simulating rectum. (13396221)
1957
31
Congenital anorectal atresia; report of a case. (18150849)
1949

Variations for Anorectal Atresia

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Expression for genes affiliated with Anorectal Atresia

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Search GEO for disease gene expression data for Anorectal Atresia.

Pathways for genes affiliated with Anorectal Atresia

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GO Terms for genes affiliated with Anorectal Atresia

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Sources for Anorectal Atresia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet