Aliases & Classifications for Imperforate Anus

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Aliases & Descriptions for Imperforate Anus:

Name: Imperforate Anus 10 45 12
Anus, Imperforate 36 65
Congenital or Infantile Occlusion of Anus 10
 
Congenital Atresia of Anus 10
Imperforate Anus Nos 10
Anal Atresia 10

Characteristics:

HPO:

61


Classifications:



External Ids:

Disease Ontology10 DOID:10488
ICD1027 Q42.3
MeSH36 D001006
NCIt42 C84784
UMLS65 C0003466

Summaries for Imperforate Anus

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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: Imperforate Anus, also known as anus, imperforate, is related to ivic syndrome and omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex, and has symptoms including ectopic anus, anal atresia and hearing impairment. An important gene associated with Imperforate Anus is SALL1 (Spalt-Like Transcription Factor 1), and among its related pathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include endothelial, lung and breast, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Related Diseases for Imperforate Anus

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

(show top 50)    (show all 356)
idRelated DiseaseScoreTop Affiliating Genes
1ivic syndrome31.0SALL1, SALL4
2omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex12.8
3chondrodysplasia situs inversus imperforate anus polydactyly12.6
4ankyloblepharon filiforme imperforate anus12.6
5diphallus rachischisis imperforate anus12.5
6cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction12.5
7cataract-intellectual disability-anal atresia-urinary defects syndrome12.4
8townes-brocks syndrome12.3
9pallister-hall syndrome12.0
10focal segmental glomerulosclerosis11.7
11breast cancer10.6
12opitz gbbb syndrome, type i10.6
13pancreatitis10.6
14hepatocellular carcinoma10.5
15hepatitis10.5
16leukemia10.5
17lymphoma10.5
18colorectal cancer10.5
19adenocarcinoma10.5
20johanson-blizzard syndrome10.5
21duane-radial ray syndrome10.5
22opitz gbbb syndrome, type ii10.5
23opitz-gbbb syndrome10.5
24anorectal atresia10.5
25sirenomelia10.5
26lung cancer10.4
27obesity10.4
28prostatitis10.4
29thyroiditis10.4
30endotheliitis10.4
31prostate cancer10.4
32adult t-cell leukemia10.4
33ovarian cancer10.4
34dermatitis10.4
35ischemia10.4
36purpura10.4
37t-cell leukemia10.4
38neuronitis10.4
39lupus erythematosus10.4
40systemic lupus erythematosus10.3
41asthma10.3
42human herpesvirus 810.3
43cone-rod dystrophy10.3
44cataract10.3
45critical limb ischemia10.3
46hepatitis b10.3
47myelofibrosis10.3
48pancreatic ductal adenocarcinoma10.3
49polycystic ovary syndrome10.3
50pulmonary fibrosis10.3

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



Diseases related to imperforate anus

Symptoms for Imperforate Anus

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HPO human phenotypes related to Imperforate Anus:

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

Drugs & Therapeutics for Imperforate Anus

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceuticalPhase 3292459-30-36037
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
2Trace ElementsPhase 33900
3VitaminsPhase 33857
4MicronutrientsPhase 33901
5Vitamin B ComplexPhase 32847
6HematinicsPhase 31121
7Vitamin B9NutraceuticalPhase 32924
8Folinic AcidNutraceuticalPhase 32604
9FolateNutraceuticalPhase 32924
10AnestheticsPhase 1, Phase 27385
11Pharmaceutical Solutions7004
12lysineNutraceutical77
13ColaNutraceutical1768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Folic Acid Dosage and Malformations ReductionActive, not recruitingNCT01244347Phase 3
2Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplastyRecruitingNCT02161003Phase 1, Phase 2
3National Study on the Quality of Life of Patients With Anorectal MalformationCompletedNCT02029248
4Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord AbnormalitiesCompletedNCT00909415
5Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
6Long-term Outcome in Patients With Anorectal MalformationsNot yet recruitingNCT02624232

Search NIH Clinical Center for Imperforate Anus


Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Imperforate Anus

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Anatomical Context for Imperforate Anus

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MalaCards organs/tissues related to Imperforate Anus:

33
Endothelial, Lung, Breast, Monocytes, Skin, Heart, Liver

Animal Models for Imperforate Anus or affiliated genes

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MGI Mouse Phenotypes related to Imperforate Anus:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.0CBFB, CYP26A1, GLI3, RECQL4, SALL4
2MP:00053717.8CBFB, CYP26A1, GLI3, RECQL4, SALL1, SALL4
3MP:00036317.5CBFB, CYP26A1, GLI3, MNX1, SALL1, SALL4
4MP:00053807.4CBFB, CYP26A1, GLI3, RECQL4, SALL1, SALL4
5MP:00053857.3CBFB, CYP26A1, GLI3, MNX1, SALL1, SALL4
6MP:00053907.2CBFB, CYP26A1, GLI3, MNX1, RECQL4, SALL1
7MP:00053816.9CBFB, CYP26A1, GLI3, MNX1, RECQL4, SALL1
8MP:00053846.9CBFB, CYP26A1, GLI3, MNX1, RECQL4, SALL1
9MP:00107686.8CBFB, CYP26A1, GLI3, MNX1, RECQL4, SALL1
10MP:00053786.8CBFB, CYP26A1, GLI3, MNX1, RECQL4, SALL1

Publications for Imperforate Anus

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Articles related to Imperforate Anus:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
GSK3I^ is a checkpoint for TNF-I+-mediated impaired osteogenic differentiation of mesenchymal stem cells in inflammatory microenvironments. (23911749)
2013
2
Id-1 is a key transcriptional regulator of glioblastoma aggressiveness and a novel therapeutic target. (23243024)
2013
3
Transition state analogues of Plasmodium falciparum and human orotate phosphoribosyltransferases. (24158442)
2013
4
Understanding Dyslexia in Children through Human Development Theories. (23269949)
2012
5
A VE-cadherin-PAR3-I+-catenin complex regulates the Golgi localization and activity of cytosolic phospholipase A(2)I+ in endothelial cells. (22398721)
2012
6
Brain transcriptome-wide screen for HIV-1 Nef protein interaction partners reveals various membrane-associated proteins. (23284715)
2012
7
Modelling and prediction of 25-hydroxyvitamin D levels in Norwegian relapsing-remitting multiple sclerosis patients. (22814117)
2012
8
Agreement of left ventricular mass in steady state free precession and delayed enhancement MR images: implications for quantification of fibrosis in congenital and ischemic heart disease. (20096134)
2010
9
Bimatoprost in the treatment of eyelash universalis alopecia areata. (21712909)
2010
10
Detection of the HE4 protein in urine as a biomarker for ovarian neoplasms. (20381233)
2010
11
Lymphangioma circumscriptum. (21048263)
2010
12
Dermatologic Clinics. Epidermolysis bullosa: part II--diagnosis and management. Preface. (20447480)
2010
13
All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis. (18270843)
2009
14
Whole-body glucose metabolism and mammary energetic nutrient metabolism in lactating dairy cows receiving digestive infusions of casein and propionic acid. (19923610)
2009
15
Targeting the LIGHT-HVEM pathway. (19760072)
2009
16
MCP-1 and CCR2 gene polymorphisms in Czech patients with allergic disorders. (19055601)
2009
17
Overnight hypoxic exposure and glucagon-like peptide-1 and leptin levels in humans. (18923568)
2008
18
Effect of IGF-1 on NO and PGE2 in rabbit articular chondrocytes induced by IL-1]. (18382052)
2008
19
S-1 monotherapy as first-line treatment in patients with advanced biliary tract cancer: a multicenter phase II study. (18214482)
2008
20
The HLA-DRB1 shared epitope alleles differ in the interaction with smoking and predisposition to antibodies to cyclic citrullinated peptide. (17265477)
2007
21
Global analysis of dynamic changes in lipid raft proteins during T-cell activation. (17486660)
2007
22
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. (17658187)
2007
23
A novel estradiol/estrogen receptor alpha-dependent transcriptional mechanism controls expression of the human prolactin receptor. (16651265)
2006
24
Altered calcium/calmodulin kinase II activity changes calcium homeostasis that underlies epileptiform activity in hippocampal neurons in culture. (16971505)
2006
25
Cyanotic breath-holding spell: a life-threatening complication after radical resection of a cervicomedullary ganglioglioma. (15942280)
2005
26
Genomic effect of vitamin 'C' and statins within human mononuclear cells involved in atherogenic process. (15970944)
2005
27
Characterization of interactions of Na+/H+ exchanger regulatory factor-1 with the parathyroid hormone receptor and phospholipase C. (15787971)
2005
28
Treatment of the posterior urethral stricture: experience with 13 cases. (14965838)
2004
29
The phosphoserine-585-dependent pathway of the GM-CSF/IL-3/IL-5 receptors mediates hematopoietic cell survival through activation of NF-kappaB and induction of bcl-2. (12920017)
2004
30
Summaries for patients. Chlamydia infection among patients receiving treatment for gonorrhea in sexually transmitted disease clinics in the United States. (12899604)
2003
31
Primary choriocarcinoma of the jejunum: report of a case. (14669091)
2003
32
Target validation for genomics using peptide-specific phage antibodies: a study of five gene products overexpressed in colorectal cancer. (12209988)
2002
33
Effects of exposure to low levels of environmental cadmium on renal biomarkers. (11836143)
2002
34
Mycobacterium simiae infection in a patient with acquired immunodeficiency syndrome. (12010600)
2001
35
HMG-CoA reductase inhibitors reduce adhesion of human monocytes to endothelial cells. (11735122)
2001
36
Otogenic lateral sinus thrombosis--a case report. (11269983)
2000
37
Increased levels of IL-5 positive peripheral blood eosinophils and lymphocytes in mild asthmatics after allergen inhalation provocation. (10231318)
1999
38
Gene Transfer for Coronary Restenosis. (11096620)
1999
39
Increased focal adhesion kinase- and urokinase-type plasminogen activator receptor-associated cell signaling in endothelial cells exposed to asbestos. (9400712)
1997
40
Histological changes in elastic components of soft palate scars after CO2 and contact Nd:YAG laser incisions in the dog as an experimental model. (8950545)
1996
41
Cloning and sequencing of an ovine interleukin-5 cDNA. (8988371)
1996
42
Biologic characteristics of esophageal epithelial dysplasia assessed by proliferating cell nuclear antigen. (8625229)
1996
43
Relation between aortic atherosclerosis and blood pressure. (7911961)
1994
44
Integrin expression in human bone. (8511980)
1993
45
Mammalian fetuin-binding proteins sarcolectin, aprotinin and calcyclin display differences in their apparent carbohydrate specificity. (1377469)
1992
46
Cadmium exposure and health effects among residents in an irrigation area with ore dressing wastewater. (2305245)
1990
47
Treatment of severe hirsutism resulting from hyperandrogenism with the reverse sequential cyproterone acetate regimen. (6232380)
1984
48
In defense of erysipelas vaccine. (7364625)
1980
49
The incidence of yolk sac tumor (endodermal sinus tumor) elements in germ cell tumors of the testis in adults. (1203848)
1975
50
The management of coccygodynia. (15418469)
1950

Variations for Imperforate Anus

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Expression for genes affiliated with Imperforate Anus

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Search GEO for disease gene expression data for Imperforate Anus.

Pathways for genes affiliated with Imperforate Anus

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8SALL1, SALL4

GO Terms for genes affiliated with Imperforate Anus

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:000328110.0SALL1, SALL4
2somatic stem cell population maintenanceGO:00350199.8SALL1, SALL4
3limb developmentGO:00601739.8GLI3, SALL1
4embryonic digestive tract developmentGO:00485669.8GLI3, SALL1
5embryonic digit morphogenesisGO:00427339.6GLI3, SALL1
6kidney developmentGO:00018229.3GLI3, SALL1

Sources for Imperforate Anus

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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