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MCID: VLV047
MIFTS: 52

Volvulus of Midgut

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Volvulus of Midgut

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MalaCards integrated aliases for Volvulus of Midgut:

Name: Volvulus of Midgut 57 12
Volvulus 12 29 54 15 32
Intestinal Volvulus 12 44 15 17
Intestinal Malrotation, Familial 57 6
Familial Intestinal Malrotation 12 58
Twist of Intestine, Bowel, or Colon 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
volvulus of midgut:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:8445
OMIM® 57 193250
ICD9CM 34 560.2
MeSH 44 D045822
NCIt 50 C98963
SNOMED-CT 67 9707006
ICD10 32 K56.2
Orphanet 58 ORPHA508410
MedGen 41 C0221210
UMLS 71 C0042961
Sources

Summaries for Volvulus of Midgut

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Disease Ontology : 12 An intestinal obstruction characterized by abnormal rotation of the intestines.

MalaCards based summary : Volvulus of Midgut, also known as volvulus, is related to short bowel syndrome and hernia, hiatus. An important gene associated with Volvulus of Midgut is ADNP2 (ADNP Homeobox 2), and among its related pathways/superpathways is Cardiac conduction. The drugs Ivermectin and Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and skin, and related phenotypes are frontal bossing and depressed nasal bridge

Wikipedia : 74 A volvulus is when a loop of intestine twists around itself and the mesentery that supports it,... more...

More information from OMIM: 193250
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Related Diseases for Volvulus of Midgut

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Diseases related to Volvulus of Midgut via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 663)
# Related Disease Score Top Affiliating Genes
1 short bowel syndrome 31.8 SST PYY GCG
2 hernia, hiatus 31.7 MLN FOXF1 CRP ATP4A ATP12A
3 gastric dilatation 31.4 TNNI3 CRP ATP4A ATP12A
4 filariasis 31.1 IL5 CRP ALB
5 intestinal obstruction 30.6 MLN GUCY2C GPT CRP ATP4A ATP12A
6 peptic ulcer disease 30.5 SST ATP4A ATP12A
7 gastroesophageal reflux 30.5 PYY MLN IL5 GCG
8 pneumatosis cystoides intestinalis 30.5 MLN ATP4A ATP12A
9 cascade stomach 30.5 ATP4A ATP12A
10 schistosomiasis 30.4 IL5 GPT ALB
11 cardiac tamponade 30.4 TNNI3 CRP ALB
12 pyloric stenosis 30.4 SST MLN FOXF1
13 compartment syndrome 30.4 GPT CRP ALB
14 colonic pseudo-obstruction 30.3 SST MLNR MLN
15 aspiration pneumonia 30.3 GPT CRP ATP4A ATP12A ALB
16 ileus 30.2 SST MLN GUCY2C CRP
17 bronchopneumonia 30.2 GPT CRP ALB
18 hemopericardium 30.2 TNNI3 CRP
19 intestinal perforation 30.2 GPT CRP ATP4A ATP12A ALB
20 meckel diverticulum 30.2 SST GCG CRP ATP4A ALB
21 duodenal obstruction 30.2 CRP ATP4A ATP12A ALB
22 exanthem 30.1 GPT CRP ATP4A ATP12A ALB
23 diverticulitis 30.1 CRP ATP4A ATP12A ALB
24 splenic infarction 30.1 GPT CRP ALB
25 diaphragmatic hernia, congenital 30.1 FOXF1 ATP4A ATP12A
26 obstructive jaundice 30.1 GPT CRP ALB
27 crohn's disease 30.1 GCG DEFA5 CRP ALB
28 typhoid fever 30.1 GPT CRP ALB
29 tuberculous peritonitis 30.1 CRP ALB
30 toxic megacolon 30.1 CRP ATP4A ATP12A ALB
31 dipetalonemiasis 30.1 GPT ALB
32 peptic esophagitis 30.0 MLN ATP4A ATP12A ALB
33 afferent loop syndrome 30.0 GPT ATP4A ATP12A ALB
34 pneumonia 30.0 IL5 GPT CRP ALB
35 gastroenteritis 30.0 PYY MLN IL5 CRP ALB
36 portal hypertension 30.0 SST GPT ALB
37 ascending cholangitis 29.9 GPT CRP ALB
38 acalculous cholecystitis 29.9 GPT CRP ALB
39 abdominal tuberculosis 29.9 GPT CRP ALB
40 pleural empyema 29.9 GPT CRP ALB
41 cholangitis 29.9 SST GPT CRP ALB
42 choledocholithiasis 29.9 GPT CRP ALB
43 pericardial effusion 29.9 TNNI3 GPT CRP ALB
44 pylorospasm 29.9 MLNR MLN
45 acute cystitis 29.9 GPT CRP ALB
46 cholelithiasis 29.9 SST GPT CRP ALB
47 bilirubin metabolic disorder 29.9 GPT CRP ALB
48 cardiac arrest 29.8 TNNI3 GPT ALB
49 respiratory failure 29.8 IL5 GPT CRP ALB
50 clostridium difficile colitis 29.8 CRP ATP4A ATP12A ALB

Graphical network of the top 20 diseases related to Volvulus of Midgut:



Diseases related to Volvulus of Midgut
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Symptoms & Phenotypes for Volvulus of Midgut

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Human phenotypes related to Volvulus of Midgut:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 intestinal malrotation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002566
6 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
7 volvulus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002580
8 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
9 constipation 31 HP:0002019
10 telecanthus 31 HP:0000506
11 abnormality of the genitourinary system 31 HP:0000119
12 abdominal distention 31 HP:0003270
13 neonatal intestinal obstruction 31 HP:0005234

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head:
frontal bossing
high forehead
boxy head

Eyes:
telecanthus
long palpebral fissures

G I:
constipation
intestinal malrotation
neonatal intestinal obstruction
midgut volvulus
abdominal distention and pain
more
G U:
major obstetrical abnormalities

Clinical features from OMIM®:

193250 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Volvulus of Midgut

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Drugs for Volvulus of Midgut (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 3 70288-86-7 6474909
2
Azithromycin Approved Phase 2 83905-01-5 55185 447043
3
Rifampicin Approved Phase 2 13292-46-1 5458213 5381226
4 Antibiotics, Antitubercular Phase 2
5 Antitubercular Agents Phase 2
6 Anti-Bacterial Agents Phase 2
7 Cola

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Single-Dose, Ivermectin-Controlled, Double-Blind, Efficacy, Safety And Tolerability Study Of Orally Administered Moxidectin In Subjects Infected With Onchocerca Volvulus Completed NCT00790998 Phase 3 Moxidectin;Ivermectin
2 A Randomized, Single-Ascending Dose, Ivermectin-Controlled, Double-Blind, Safety, Tolerability, Pharmacokinetic, and Efficacy Study Of Orally Administered Moxidectin In Subjects With Onchocerca Volvulus Infection Completed NCT00300768 Phase 2 2 mg moxidectin;ivermectin 150 mcg/kg;4 mg moxidectin;8 mg moxidectin
3 Trial of Rifampin and Azithromycin for Treatment of Endosymbiotic Bacteria (Wolbachia) in Onchocerca Volvulus in Guatemala Completed NCT00127504 Phase 2 Rifampin;Azithromycin
4 A Single-Center, Open-Label, Single-Dose Study To Assess The Pharmacokinetics, Safety, And Tolerability Of Moxidectin In Subjects Aged 4 To 11 Years ( >=12 kg) With Or Without Onchocerca Volvulus Infection Withdrawn NCT01035619 Phase 2 moxidectin
5 Multi Center, Observational, Retrospective Data Collection of Patients Treated With the ColonRing in Routine Clinical Practice. This Study to Continue RETROPRESS Study ID NCT01301417 Unknown status NCT01880918
6 Different Clinicopathological Features of Non-Elderly Sigmoid Volvulus Patients Completed NCT04360525
7 Natural Orifice Specimen Extraction in Sigmoid Volvulus Patients Completed NCT04740619
8 Prenatal Ultrasound Screening of Intestinal Malrotation With a Higher Risk of Volvulus: Value of The Relative Position of The Superior Mesenteric Artery and Vein. Future of the Children With an Antenatal Malrotation Suspicion Completed NCT03356314
9 Best Management of Sigmoid Volvulus: A Prospective Randomized Trial Completed NCT01682395
10 Prenatal Diagnosis of Antenatal Midgut Volvulus: Specific Ultrasound Features Completed NCT03362450
11 Systematic Review of Isolated Hypoganglionosis and Presentation of a New Case Complicated With Sigmoid Volvulus Completed NCT04363125
12 a RETROspective Data Collection of comPRESSion Anastomosis Using the ColonRing â„¢ Completed NCT01301417
13 Determination of the Prevalence of LF Infection in Districts Not Included in LF Control Activities and of the Basis for Integrated Implementation of LF - Onchocerciasis Elimination Strategies in Potentially Co-endemic Areas Completed NCT03131401
14 Diagnostic Performance of Antenatal Ultrasound in the Localization of Intestinal Structures Involved in Malrotation With a Higher-risk of Volvulus Recruiting NCT03968107

Search NIH Clinical Center for Volvulus of Midgut

Cochrane evidence based reviews: intestinal volvulus

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Genetic Tests for Volvulus of Midgut

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Genetic tests related to Volvulus of Midgut:

# Genetic test Affiliating Genes
1 Volvulus 29
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Anatomical Context for Volvulus of Midgut

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MalaCards organs/tissues related to Volvulus of Midgut:

40
Colon, Small Intestine, Skin, Spleen, Liver, Eye, Appendix
Sources

Publications for Volvulus of Midgut

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Articles related to Volvulus of Midgut:

(show top 50) (show all 8577)
# Title Authors PMID Year
1
Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation? 57 61
1519649 1992
2
Small bowel volvulus in two siblings. 61 57
3135012 1988
3
Familial midgut anomalies--a spectrum of defects due to the same cause? 61 57
7246615 1981
4
Familial midgut volvulus. 57 61
5051163 1972
5
Immunohistological studies on neoplasms of female and male Onchocerca volvulus: filarial origin and absence of Wolbachia from tumor cells. 54 61
20199697 2010
6
Innate immune responses to endosymbiotic Wolbachia bacteria in Brugia malayi and Onchocerca volvulus are dependent on TLR2, TLR6, MyD88, and Mal, but not TLR4, TRIF, or TRAM. 54 61
17202370 2007
7
Ivermectin selection on beta-tubulin: evidence in Onchocerca volvulus and Haemonchus contortus. 61 54
17007942 2006
8
Genetic polymorphism of the beta-tubulin gene of Onchocerca volvulus in ivermectin naïve patients from Cameroon, and its relationship with fertility of the worms. 61 54
16197589 2006
9
Onchocerca volvulus-exposed persons fail to produce interferon-gamma in response to O. volvulus antigen but mount proliferative responses with interleukin-5 and IL-13 production that decrease with increasing microfilarial density. 54 61
11930325 2002
10
Characterization and expression of enzymatically active recombinant filarial prolyl 4-hydroxylase. 54 61
11522351 2001
11
Neutrophil accumulation around Onchocerca worms and chemotaxis of neutrophils are dependent on Wolbachia endobacteria. 61 54
11377205 2001
12
Characterization of the heat-shock protein 60 chaperonin from Onchocerca volvulus. 54 61
10779593 2000
13
T cell responses in coinfection with Onchocerca volvulus and the human immunodeficiency virus type 1. 54 61
9767610 1998
14
Identification of an epitope of a recombinant Onchocerca volvulus protein that induces corneal pathology. 54 61
9297706 1997
15
Molecular characterization and expression of Onchocerca volvulus glutathione reductase. 54 61
9271084 1997
16
Immunoregulation in onchocerciasis: persons with ocular inflammatory disease produce a Th2-like response to Onchocerca volvulus antigen. 61 54
8699070 1996
17
Epitopes of the Onchocerca volvulus RAL1 antigen, a member of the calreticulin family of proteins, recognized by sera from patients with onchocerciasis. 54 61
7520419 1994
18
A 16mer peptide of the human autoantigen calreticulin is a most prominent HLA-DR4Dw4-associated self-peptide. 61 54
7836063 1994
19
Serological cross-reactivity between a human Ro/SS-A autoantigen (calreticulin) and the lambda Ral-1 antigen of Onchocerca volvulus. 61 54
1602002 1992
20
Analysis of aqueous humour in ocular onchocerciasis. 54 61
2036808 1991
21
Humoral autoimmune response against S-antigen and IRBP in ocular onchocerciasis. 54 61
2365568 1990
22
A human Ro/SS-A autoantigen is the homologue of calreticulin and is highly homologous with onchocercal RAL-1 antigen and an aplysia "memory molecule". 61 54
2365822 1990
23
Organoaxial Gastric Volvulus. 61
32109636 2021
24
Diagnostic decision-making tool for imaging term neonatal bowel obstruction. 61
33097229 2021
25
Evaluating outcomes of primary anastomosis versus Hartmann's procedure in sigmoid volvulus: A retrospective-cohort study. 61
33520215 2021
26
Synchronous Volvulus of the Transverse Colon and Cecum Associated with Scleroderma and Lupus. 61
33299508 2021
27
Colon volvulus in rhesus macaques (Macaca mulatta) at the Oregon National Primate Research Center-Retrospective analysis. 61
33547657 2021
28
Syncope as the clinical presentation in a case of acute gastric volvulus. 61
33496409 2021
29
The eyes see what the mind knows - a need for midgut volvulus ultrasound education: reply to Strouse. 61
33608741 2021
30
Drugs that target early stages of Onchocerca volvulus: A revisited means to facilitate the elimination goals for onchocerciasis. 61
33600426 2021
31
Comments on "Pediatric Sigmoid Volvulus". 61
33587341 2021
32
Giant Jejunoileal Volvulus Secondary To Chronic Eosinophilic Enteritis. 61
33561525 2021
33
Cardiac Arrest Caused by an Acute Intrathoracic Gastric Volvulus Treated With Percutaneous Gastrostomy. 61
32950281 2021
34
Establishment of an in vitro culture system to study the developmental biology of Onchocerca volvulus with implications for anti-Onchocerca drug discovery and screening. 61
33561123 2021
35
Difficulty in prenatal diagnosis of the volvulus of the small intestine: A peculiar clinical course of two cases with massive bowel dilatation and loss of peristalsis. 61
33590600 2021
36
A rare case of transient duodenal volvulus in an elderly patient. 61
32978899 2021
37
Complex hiatal hernia with gastric volvulus associated. 61
33558049 2021
38
Gastrointestinal dysfunction in movement disorders. 61
33538914 2021
39
Transversus abdominis muscle as a gastric or intestinal on-lay flap in two dogs and one cat. 61
33599994 2021
40
The diagnostic dilemma of a gallbladder volvulus: An unusual case report and review of the literature. 61
33601326 2021
41
Liver Lobe Torsion in a Guinea Pig (Cavia porcellus). 61
33548548 2021
42
Mapping the burden of onchocercal skin disease. 61
32302410 2021
43
Human filariasis-contributions of the Litomosoides sigmodontis and Acanthocheilonema viteae animal model. 61
33547508 2021
44
Bedside upper gastrointestinal series in the neonatal intensive care unit. 61
33607968 2021
45
Prenatal diagnosis of intestinal nonrotation using magnetic resonance imaging: Is it possible? 61
33608743 2021
46
Remote ischemic conditioning avoids the development of intestinal damage after ischemia reperfusion by reducing intestinal inflammation and increasing intestinal regeneration. 61
33555396 2021
47
Nodding syndrome research re-visited. 61
33556614 2021
48
Redundant mesocolonic mesentery in a Shire colt. 61
33542558 2021
49
Untwisting the complexity of midgut malrotation and volvulus ultrasound. 61
33398405 2021
50
Hirschsprung's Disease Complicated by Sigmoid Volvulus: A Systematic Review. 61
32856883 2021
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Variations for Volvulus of Midgut

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ClinVar genetic disease variations for Volvulus of Midgut:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADNP2 Deletion Pathogenic 559585 18:64849943-78077248
2 DMRTC1 Deletion Pathogenic 559586 X:71728056-72215882
3 ABHD11-AS1 Duplication Likely pathogenic 559583 7:72606450-74153206
4 ABCC1 Duplication Uncertain significance 559584 16:15476867-16305656
5 GALNT14 Deletion Uncertain significance 559582 2:31209654-31332990 2:30986789-31110125
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Expression for Volvulus of Midgut

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Search GEO for disease gene expression data for Volvulus of Midgut.
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Pathways for Volvulus of Midgut

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Pathways related to Volvulus of Midgut according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 11.75 TNNI3 LMOD1 KCNE1 ATP4A ATP12A
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GO Terms for Volvulus of Midgut

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Cellular components related to Volvulus of Midgut according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 SST PYY IL5 GPT GCG DEFA5

Biological processes related to Volvulus of Midgut according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gluconeogenesis GO:0045722 9.26 GPT GCG
2 sodium ion export across plasma membrane GO:0036376 9.16 ATP4A ATP12A
3 cellular potassium ion homeostasis GO:0030007 8.96 ATP4A ATP12A
4 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.62 ATP4A ATP12A

Molecular functions related to Volvulus of Midgut according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 toxic substance binding GO:0015643 9.32 GUCY2C ALB
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
4 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A
5 hormone activity GO:0005179 8.92 SST PYY MLN GCG
Sources

Sources for Volvulus of Midgut

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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