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MCID: OVR082
MIFTS: 50

Overgrowth Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Overgrowth Syndrome

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MalaCards integrated aliases for Overgrowth Syndrome:

Name: Overgrowth Syndrome 58 29
Overgrowth 29 6

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA93460
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Summaries for Overgrowth Syndrome

About this section
MalaCards based summary : Overgrowth Syndrome, also known as overgrowth, is related to facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome and proteus syndrome. An important gene associated with Overgrowth Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are MicroRNAs in cancer and Nectin adhesion pathway. The drugs Clindamycin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and liver, and related phenotypes are growth/size/body region and craniofacial

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Related Diseases for Overgrowth Syndrome

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Diseases in the Overgrowth Syndrome family:

Eed-Related Overgrowth Ezh2-Related Overgrowth
Pik3ca-Related Overgrowth Spectrum Pik3ca-Related Overgrowth Syndrome

Diseases related to Overgrowth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 841)
# Related Disease Score Top Affiliating Genes
1 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 34.1 KCNK4-TEX40 KCNK4
2 proteus syndrome 32.3 PIK3CA NSD1 GPC3
3 perlman syndrome 32.1 GPC3 DIS3L2
4 epiphyseal chondrodysplasia, miura type 32.1 NPR2 NPPC
5 weaver syndrome 31.7 SETD2 NSD1 GPC3 DNMT3A DIS3L2
6 silver-russell syndrome 31.3 NSD1 IGF2 H19-ICR
7 beckwith-wiedemann syndrome 31.2 NSD1 IGF2 H19-ICR GPC3 DNMT3A
8 sotos syndrome 1 30.9 SETD2 NSD1 NFIX GPC3 DNMT3A APC2
9 macrodactyly 30.2 PIK3CA NPR2
10 marshall-smith syndrome 29.9 NSD1 NFIX
11 wilms tumor 5 29.5 IGF2 GPC3
12 acromesomelic dysplasia 29.4 NPR2 NPPC
13 wilms tumor predisposition 28.7 NSD1 IGF2 H19-ICR GPC3 DIS3L2
14 kosaki overgrowth syndrome 12.6
15 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.6
16 global developmental delay, lung cysts, overgrowth, and wilms tumor 12.5
17 gingival overgrowth 12.4
18 dnmt3a overgrowth syndrome 12.4
19 acromegaloid features, overgrowth, cleft palate, and hernia 12.3
20 overgrowth-macrocephaly-facial dysmorphism syndrome 12.3
21 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 12.3
22 vertebral body fusion overgrowth 12.3
23 pik3ca-related overgrowth syndrome 12.2
24 eed-related overgrowth 12.2
25 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 12.1
26 overgrowth syndrome with 2q37 translocation 12.1
27 genetic overgrowth/obesity syndrome 12.1
28 overgrowth/obesity syndrome 12.1
29 obsolete: congenital vascular bone syndrome with limb overgrowth 12.1
30 non syndromic limb overgrowth 12.1
31 overgrowth or tall stature syndrome with skeletal involvement 12.1
32 chromosomal disease with overgrowth 12.1
33 tatton-brown-rahman syndrome 12.0
34 simpson-golabi-behmel syndrome 11.9
35 sotos syndrome 2 11.7
36 macrocephaly, dysmorphic facies, and psychomotor retardation 11.7
37 rahman syndrome 11.6
38 fibromatosis, gingival, 1 11.6
39 blind loop syndrome 11.5
40 sclerosteosis 11.5
41 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
42 nevus, epidermal 11.4
43 capillary malformation-arteriovenous malformation 1 11.4
44 loeys-dietz syndrome 5 11.4
45 developmental delay with variable intellectual impairment and behavioral abnormalities 11.4
46 simpson-golabi-behmel syndrome, type 1 11.4
47 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.4
48 hemihyperplasia, isolated 11.3
49 momo syndrome 11.3
50 tenorio syndrome 11.3

Graphical network of the top 20 diseases related to Overgrowth Syndrome:



Diseases related to Overgrowth Syndrome
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Symptoms & Phenotypes for Overgrowth Syndrome

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MGI Mouse Phenotypes related to Overgrowth Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 APC2 DIS3L2 DNMT3A GPC3 IGF2 NFIX
2 craniofacial MP:0005382 9.91 GPC3 IGF2 NFIX NPPC NPR2 PDGFRB
3 nervous system MP:0003631 9.85 APC2 DNMT3A IGF2 KCNK4 NFIX NPPC
4 limbs/digits/tail MP:0005371 9.73 GPC3 IGF2 NPPC NPR2 PDGFRB SETD2
5 reproductive system MP:0005389 9.56 APC2 DNMT3A GPC3 IGF2 NPPC NPR2
6 skeleton MP:0005390 9.32 DIS3L2 DNMT3A GPC3 IGF2 NFIX NPPC
Sources

Drugs & Therapeutics for Overgrowth Syndrome

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Drugs for Overgrowth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 304)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Ethanol Approved Phase 4 64-17-5 702
3
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
4
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
5
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
6
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
7
Olodaterol Approved Phase 4 868049-49-4
8
Lactulose Approved Phase 4 4618-18-2 11333
9 Fluoroquinolones Phase 4
10 Clindamycin palmitate Phase 4
11 Clindamycin phosphate Phase 4
12 Cola Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14 Neurotransmitter Agents Phase 4
15 Cholinergic Agents Phase 4
16 Bromides Phase 4
17 Amoxicillin-Potassium Clavulanate Combination Phase 4
18 beta-Lactamase Inhibitors Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Respiratory System Agents Phase 4
22 Autonomic Agents Phase 4
23 Bronchodilator Agents Phase 4
24 Tiotropium Bromide Phase 4 136310-93-5
25 Cholinergic Antagonists Phase 4
26 Parasympatholytics Phase 4
27 Anti-Allergic Agents Phase 4
28
Propranolol Approved, Investigational Phase 3 525-66-6 4946
29
Sodium citrate Approved, Investigational Phase 3 68-04-2
30
leucovorin Approved Phase 3 58-05-9 6006 143
31
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
32
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
33
Norfloxacin Approved Phase 3 70458-96-7 4539
34
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
35
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
36
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
37
Glycerol Approved, Investigational Phase 3 56-81-5 753
38
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
39
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
40
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
41
Metronidazole Approved Phase 3 443-48-1 4173
42
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
43
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
44
Ampicillin Approved, Vet_approved Phase 3 69-53-4 6249
45
Procaine Approved, Investigational, Vet_approved Phase 3 59-46-1 4914
46
Penicillin G Approved, Vet_approved Phase 3 61-33-6 5904
47
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
49
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 246)
# Name Status NCT ID Phase Drugs
1 Antibiotic Treatment Trial for Small Intestinal Bacterial Overgrowth: A Randomized, Double-Blind, Placebo-Controlled Trial Comparing Ciprofloxacin and Metronidazole Unknown status NCT02458781 Phase 4 Metronidazole;Ciprofloxacin;Placebo
2 Randomised Control Trial of Probiotics Versus Placebo as Adjuvant to Oral Clindamycin Treatment for Bacterial Vaginosis During Pregnancy Unknown status NCT01558388 Phase 4 Lactobacillus acidophilus;Placebo
3 Rifaximin Predicts the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial Unknown status NCT02074280 Phase 4 rifaximin
4 Rifaximin Reduces the Complications of Decompensated Cirrhosis Unknown status NCT02190357 Phase 4 Rifaximin
5 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
6 Prostatic Artery Embolization Versus 532 nm Green Light Laser Photoselective Vaporization of the Prostate for Treating Catheter-Dependent Patients With Benign Prostatic Hyperplasia: A Randomized Controlled Clinical Study Unknown status NCT02006303 Phase 4
7 Efficacy Evaluation of Enterogermina, 2 Billion Bacillus Clausii Spores, on Eradication of Small Intestinal Bacterial Overgrowth: a Randomised, Parallel-group, Open Study. Completed NCT00331994 Phase 4 Bacillus clausii;Metronidazole
8 Octreotide Efficacy and Safety in First-line Acromegalic Patients Completed NCT00171886 Phase 4 Octreotide
9 Effects of Lubiprostone on Small Bowel and Colonic Bacteria: A Correlation Study With Segmental and Whole Gut Transit Completed NCT00844831 Phase 4 Lubiprostone
10 Efectividad de Saccharomyces Oulardii Para Reducir Los síntomas Gastrointestinales y Evitar el Sobrecrecimiento Bacteriano en Esclerosis sistémica Completed NCT03692299 Phase 4 Saccharomyces Boulardii Oral Tablet;Metronidazole
11 Intestinal Decontamination With Rifaximin. Effects on the Inflammatory and Circulatory State in Patients With Cirrhosis and Ascites - A Randomised Controlled Clinical Study Completed NCT01769040 Phase 4 Rifaximin;placebo
12 Lactobacillus Reuteri Reduces Pulmonary Exacerbations and Upper Respiratory Tract Infections in CF Patients With Mild-to-moderate Lung Disease. LR Administration Might Have a Beneficial Effect on the Disease Course of Cystic Fibrosis. Completed NCT01737983 Phase 4
13 A Longitudinal Study to Identify IBS Phenotypes Using Fecal Microbiota and Hydrogen Breath Testing Recruiting NCT03219528 Phase 4 Rifaximin 550 MG
14 Antibiotic-associated Gastrointestinal Side Effects and the Role of the Gut Microbiome Recruiting NCT04156555 Phase 4 Amoxicillin-Clavulanate 875 Mg-125 Mg Oral Tablet
15 INvestigating COPD Outcomes, Genomics and Neutrophilic Inflammation With Tiotropium and Olodaterol Recruiting NCT03152149 Phase 4 Tiotropium & olodaterol;fluticasone furoate & vilanterol
16 The Role of Breath Testing in Enriching the Likelihood of Response to Rifaximin in Patients With Diarrhea IBS Not yet recruiting NCT03729271 Phase 4 Rifaximin
17 A Clinical Study on the Treatment of Degenerative Lumbar Spine Stenosis With a Percutaneous Interspinous Implant in Comparison With the Best Non-operative Treatment of Lumbar Spine Stenosis Terminated NCT01057641 Phase 4
18 The Comparison of Value of Brachytherapy and Endoscopic Stenting With SEMS in Palliative Treatment of Dysphagia Resulting From Adenocarcinoma of the Esophago-Gastric Junction Unknown status NCT01786278 Phase 2, Phase 3
19 Role of Probiotics in the Prevention of Spontaneous Bacterial Peritonitis in Cirrhotic Patients: A Randomized Placebo Control Trial Unknown status NCT00678613 Phase 2, Phase 3 Probiotics and Placebo;Probiotics and Norfloxacin
20 Effects of Short-chain Fatty Acids, Here Sodium Propionate, a Metabolism Product of the Human Gut-microbiome, on Inflammatory and Metabolic Parameters in Patients on Maintenance Hemodialysis - a Pilot Study Unknown status NCT02976688 Phase 2, Phase 3
21 COMPARATIVE STUDY OF NORFLOXACIN AND PROBIOTICS ON PORTAL PRESSURE IN PATIENTS WITH CIRRHOSIS AND LARGE VARICES WHO HAVE NEVER BLED IN THE PAST Unknown status NCT01134692 Phase 3 Propranolol, Norfloxacin, VSL#3
22 Lactobacillus Reuteri in Treatment of Functional Abdominal Pain and Chronic Constipation in Children - Randomized, Double Blind, Placebo Controlled Study Unknown status NCT01587846 Phase 3
23 Effect of Low Dose Oral Folic Acid Supplementation on Phenytoin Induced Gingival Overgrowth: A Randomized Double Blind Controlled Trial. Completed NCT00781196 Phase 3 folic acid;placebo
24 Does the Negativation of the Glucose Hydrogen Breath Test Come Along With a Reduction of the Symptoms of Gaz Incontinence ? Completed NCT01275560 Phase 3 Metronidazole;CArbosylane
25 The Effect of Lubiprostone on Transit Times Within the Alimentary Tract, Measured by Novel Smartpill Methodology in Patients With Chronic Constipation Completed NCT01469819 Phase 2, Phase 3 Lubiprostone
26 Weight Loss in Parkinson's Disease and the Potential Role of Small Bowel Bacterial Overgrowth Completed NCT01662791 Phase 3 Rifaximin
27 Treating Bacterial Overgrowth in Parkinson's Disease Completed NCT02470780 Phase 2, Phase 3 Rifaximin;Placebo
28 An Open Label, Non Comparative, Prospective Pilot Study, to Assess the Efficacy and Safety of the Probiotic E. Coli Strain M17 on Patients With GERD Completed NCT00324532 Phase 3 ProBactrix
29 Bifidobacterium Infantis M-63 Improves Mental Health in Irritable Bowel Syndrome Developed After a Major Flood Disaster Completed NCT03318614 Phase 2, Phase 3
30 Randomized Trial of Conventional Covered Self Expandable Metallic Stent Versus Paclitaxel Eluting Covered Self Expandable Metallic Stent in Unresectable Malignant Bile Duct Obstruction Completed NCT00453076 Phase 3
31 Evaluation of Safety and Efficacy of Synbiotic on the Incidence and Recurrence of Spontaneous Bacterial Peritonitis in Cirrhotics: A Randomized, Double Blind Placebo Controlled Trial Completed NCT00947336 Phase 3 Norfloxacin + Synbiotic;Norfloxacin + Placebo
32 Lactobacillus GG in the Prophylaxis of Ventilator Associated Pneumonia: A Prospective, Randomized, Placebo-controlled, Double-blind Study Completed NCT00613795 Phase 3
33 Euphrasia Eye Drops in Preterm Infants With First Signs of Congestion of Nasolacrimal Duct - a Randomized Double-blind Controlled Trial Completed NCT04122300 Phase 3 Euphrasia Officinalis Preparation;Placebo
34 A Randomized, Controlled Trial of the Efficacy, Safety, and Acceptability of BufferGel Completed NCT00065858 Phase 2, Phase 3 BufferGel
35 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
36 Randomized Control Trial of Rifaximin and Norfloxacin in Primary and Secondary Prophylaxis of Spontaneous Bacterial Peritonitis(SBP) in Cirrhotic Patients Completed NCT03695705 Phase 3 Rifaximin 550 mg twice a day and Norfloxacin 400 mg once a day
37 The Effect of a Systemic Oral Care Program on Reducing Exposure to Oropharyngeal Pathogens in Critically III Patients Completed NCT00078663 Phase 3
38 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
39 A Prospective, Randomised Placebo Controlled Feasibility Trial of Faecal Microbiota Transplantation in Cirrhosis Recruiting NCT02862249 Phase 3
40 Treatment of the Intermediate Vaginal Microbiota With Vaginal Probiotics Containing Lactobacillus Casei Rhamnosus (Lcr Regenerans) to Improve Pregnancy Outcomes Recruiting NCT02979288 Phase 3 Lactobacillus casei rhamnosus (Lcr 35 regenerans)
41 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
42 First Line Antimicrobials in Children With Complicated Severe Acute Malnutrition Not yet recruiting NCT03174236 Phase 3 Ceftriaxone;Benzyl penicillin plus gentamicin;Metronidazole
43 Effects of Recto-colic Enemas of Butyrate on the Digestive Disorders of Very Low Birth Weight Preterms <1250 Grams. Clinical Trial Prospective, Monocentric, Randomized in Double-blinded. Terminated NCT01536483 Phase 2, Phase 3 Butyrate enemas
44 Rifaximin for the Secondary Prevention of Spontaneous Bacterial Peritonitis Recurrence in Cirrhotic Patients: A Prospective, Multicenter, Randomized, Open-label, Controlled Phase III Study Withdrawn NCT02011841 Phase 3 Rifaximin;Ciprofloxacin
45 Double Blind Placebo Controlled Study of the Effect of Probiotics "Co-Biotic" (TM)on Symptoms and Fecal Bacterial Composition in IBS Patients Withdrawn NCT00846170 Phase 3 co-biotic;placebo 2T/day
46 The Role of Bacterial Overgrowth and Delayed Intestinal Transit in Hepatic Encephalopathy. Phase A: Breath Testing and Colonic Transit in Hepatic Encephalopathy. Phase B: A Randomized Double Blind, Placebo Controlled Trial of Rifaximin for Hepatic Encephalopathy Unknown status NCT00281502 Phase 2 Rifaximin (drug)
47 A Novel Tracheal Radioactive Stent Loaded With 125I Seeds for the Malignant Airway Obstruction Versus a Conventional Stent: A Prospective Randomized Controlled Trial Unknown status NCT02565927 Phase 2 Iodine-125 seeds
48 Pharmacokinetics of Antimicrobials and Carriage of Antimicrobial Resistance Amongst Hospitalised Children With Severe Acute Malnutrition Unknown status NCT02746276 Phase 2 Ceftriaxone;Metronidazole
49 Botulinum Toxin A in the Healing of Surgical Wounds of the Neck: a Randomized, Prospective, Placebo-controlled Trial Unknown status NCT01177358 Phase 2 Botulinum Toxin Type A;Normal Saline
50 Brief Administration of Cyclosporine A to Induce the Stabilisation of the Diameter of Small Diameter Abdominal Aortic Aneurysms. Unknown status NCT02225756 Phase 2 Cyclosporine A;Cyclosporine A;Placebo

Search NIH Clinical Center for Overgrowth Syndrome

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Genetic Tests for Overgrowth Syndrome

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Genetic tests related to Overgrowth Syndrome:

# Genetic test Affiliating Genes
1 Overgrowth 29
2 Overgrowth Syndrome 29
Sources

Anatomical Context for Overgrowth Syndrome

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MalaCards organs/tissues related to Overgrowth Syndrome:

40
Small Intestine, Testes, Liver, Bone, Colon, Brain, Prostate
Sources

Publications for Overgrowth Syndrome

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Articles related to Overgrowth Syndrome:

(show top 50) (show all 11795)
# Title Authors PMID Year
1
Could a freshwater fish be at the root of dystrophic crises in a coastal lagoon? 61
31822402 2020
2
Cord blood metabolic markers are strong mediators of the effect of maternal adiposity on fetal growth in pregnancies across the glucose tolerance spectrum: the PANDORA study. 61
31915893 2020
3
The composition difference of macrophyte litter-derived dissolved organic matter by photodegradation and biodegradation: Role of reactive oxygen species on refractory component. 61
31669998 2020
4
Modified photochemical strategy to support highly-purity, dense and monodisperse Au nanospheres on graphene oxide for optimizing SERS detection. 61
31892060 2020
5
Intestinal Fungal Dysbiosis and Systemic Immune Response to Fungi in Patients With Alcoholic Hepatitis. 61
31228214 2020
6
What is the ideal indwelling time for metal stents after endoscopic ultrasound-guided gastrojejunostomy? A case report of delayed iatrogenic perforation with a review of the literature. 61
32022334 2020
7
CrRLK1L receptor-like kinases HERK1 and ANJEA are female determinants of pollen tube reception. 61
31867824 2020
8
UBR5 is co-amplified with MYC in breast tumors and encodes an ubiquitin ligase that limits MYC-dependent apoptosis. 61
32029551 2020
9
Antibiotic Delivery Strategies to Treat Skin Infections When Innate Antimicrobial Defense Fails. 61
32024064 2020
10
Multi-interfacial plasmon coupling in multigap (Au/AgAu)@CdS core-shell hybrids for efficient photocatalytic hydrogen generation. 61
32025686 2020
11
A sustainable strategy for effective regulation of aerobic granulation: Augmentation of the signaling molecule content by cultivating AHL-producing strains. 61
31670083 2020
12
Diversity of Organism-Wide and Organ-Specific Endothelial Cells. 61
32036477 2020
13
Normalisation of circulating adiponectin levels in obese pregnant mice prevents cardiac dysfunction in adult offspring. 61
31076636 2020
14
Ghrelin abates bacterial translocation following burn injury by improving gastric emptying. 61
31603615 2020
15
Intraoperative detection of stuck leaflet after implantation of a mechanical aortic valve: a case report. 61
32030563 2020
16
Synapse impairment associated with enhanced apoptosis in post-traumatic stress disorder. 61
31562782 2020
17
Microbiome and Its Role in Irritable Bowel Syndrome. 61
32026278 2020
18
Small Intestinal Bacterial Overgrowth in Irritable Bowel Syndrome: A Systematic Review and Meta-Analysis of Case-Control Studies. 61
31913194 2020
19
Utility and Safety of a Novel Fully Covered Metal Stent in Unresectable Distal Malignant Biliary Obstruction. 61
32036515 2020
20
HNF1B-mediated repression of SLUG is suppressed by EZH2 in aggressive prostate cancer. 61
31636385 2020
21
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome. 61
32035943 2020
22
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092). 61
32014856 2020
23
An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor. 61
31286500 2020
24
Recurrent intestinal inflammation with a perianal abscess is not always Crohn's disease: a patient with a complex Meckel's diverticulum diagnosed by double-balloon endoscopy. 61
31240623 2020
25
Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome. 61
31493040 2020
26
The effects of proton pump inhibitors on the microbiome in young children. 61
32027402 2020
27
Adipokines underlie the early origins of obesity and associated metabolic comorbidities in the offspring of women with pregestational obesity. 61
31654701 2020
28
Toll-like receptor 9 regulates metabolic profile and contributes to obesity-induced benign prostatic hyperplasia in mice. 61
32016843 2020
29
A Calm, Dispassionate Look at Skin Microbiota in Atopic Dermatitis: An Integrative Literature Review. 61
31960273 2020
30
Association of Intestinal Disorders with Parkinson's Disease and Alzheimer's Disease: A Systematic Review and Meta-Analysis. 61
31876406 2020
31
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter. 61
32028043 2020
32
Role of sensory neurons, neuroimmune pathways, and transient receptor potential vanilloid 1 (TRPV1) channels in a murine model of breast cancer metastasis. 61
31912230 2020
33
ACG Clinical Guideline: Small Intestinal Bacterial Overgrowth. 61
32023228 2020
34
Generation of Tin-Vacancy Centers in Diamond via Shallow Ion Implantation and Subsequent Diamond Overgrowth. 61
32031821 2020
35
Continuing Medical Education Questions: February 2020: ACG Clinical Guideline: Small Intestinal Bacterial Overgrowth. 61
32015282 2020
36
Risk Factors Associated With Upper Aerodigestive Tract or Coliform Bacterial Overgrowth of the Small Intestine in Symptomatic Patients. 61
30575635 2020
37
Factors Associated with Oral Candidiasis in People Living with HIV/AIDS: A Case Control Study. 61
32021484 2020
38
Management of afferent loop syndrome after Roux-en-Y subtotal gastrectomy and choledocolithiasis with recurrent cholangitis. 61
31907217 2020
39
New Insights into Intestinal Failure Associated Liver Disease in Children. 61
32003009 2020
40
BCOR Expression in Mullerian Adenosarcoma: A Potential Diagnostic Pitfall. 61
32011345 2020
41
NTRK Fusion Cervical Sarcoma: A Report of 3 Cases, Emphasizing Morphological and Immunohistochemical Distinction from Other Uterine Sarcomas, including Adenosarcoma. 61
31971278 2020
42
Diagnostic and Therapeutic Management of Post-Gastric Bypass Chronic Diarrhea: a Systematic Review. 61
31902043 2020
43
Placental Accumulation of Triacylglycerols in Gestational Diabetes Mellitus and Its Association with Altered Fetal Growth are Related to the Differential Expressions of Proteins of Lipid Metabolism. 61
31968385 2020
44
Analysis of the effects of storage temperature and contamination on aerobic bacterial culture results of bronchoalveolar lavage fluid. 61
31860163 2020
45
Strong leaf surface basification and CO2 limitation of seagrass induced by epiphytic biofilm microenvironments. 61
31429088 2020
46
Co-transfection of hepatocyte growth factor and truncated TGF-β type II receptor inhibit scar formation. 61
31939600 2020
47
YAP/TAZ functions and their regulation at a glance. 61
31996398 2020
48
The urobiome of continent adult women: a cross-sectional study. 61
31469215 2020
49
Retinal blood vessel-origin yes-associated protein (YAP) governs astrocytic maturation via leukaemia inhibitory factor (LIF). 61
31916327 2020
50
An Activating Mutation in ERK Causes Hyperplastic Tumors in a scribble Mutant Tissue in Drosophila. 61
31740452 2020
Sources

Variations for Overgrowth Syndrome

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ClinVar genetic disease variations for Overgrowth Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;t(2;11)(q11.2;p13)dnTranslocation Pathogenic 267861
2 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
3 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)SNV Pathogenic/Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
4 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
5 46;XY;t(20;22)(q13.3;q11.2)Translocation Uncertain significance 267893
6 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>ASNV Uncertain significance 374062 rs200627037 3:178921589-178921589 3:179203801-179203801

Copy number variations for Overgrowth Syndrome from CNVD:

7 (show all 21)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 245000 9 100050139 100197864 Deletion overgrowth syndrome
2 252560 9 35792406 35809728 Mutation Npr2 Overgrowth disorder
3 256360 9 92321634 92489352 Deletion overgrowth syndrome
4 256448 9 93288305 93459139 Deletion overgrowth syndrome
5 256562 9 94415600 94590889 Deletion overgrowth syndrome
6 256572 9 94473904 94655715 Deletion overgrowth syndrome
7 256642 9 95213051 95402627 Deletion overgrowth syndrome
8 256658 9 95433765 95598231 Deletion overgrowth syndrome
9 256667 9 95600000 101600000 Deletion D9S1690 overgrowth syndrome
10 256668 9 95600000 101600000 Deletion D9S1809 overgrowth syndrome
11 256669 9 95600000 101600000 Deletion D9S1815 overgrowth syndrome
12 256670 9 95600000 101600000 Deletion D9S1851 overgrowth syndrome
13 256671 9 95600000 101600000 Deletion D9S287 overgrowth syndrome
14 256710 9 96060259 96229878 Deletion overgrowth syndrome
15 256804 9 97120587 97286003 Deletion overgrowth syndrome
16 256845 9 97623563 97784334 Deletion overgrowth syndrome
17 256933 9 98644256 98794171 Deletion overgrowth syndrome
18 256943 9 98744783 98745226 Deletion overgrowth syndrome
19 256955 9 98922778 99098674 Deletion overgrowth syndrome
20 256987 9 99270898 99449952 Deletion overgrowth syndrome
21 257022 9 99548194 99709828 Deletion overgrowth syndrome
Sources

Expression for Overgrowth Syndrome

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Search GEO for disease gene expression data for Overgrowth Syndrome.
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Pathways for Overgrowth Syndrome

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Pathways related to Overgrowth Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 36
11.75 PIK3CA PDGFRB DNMT3A APC2
2
Nectin adhesion pathway 1
10.65 PIK3CA PDGFRB
3
Pathways Affected in Adenoid Cystic Carcinoma 1
10.62 SETD2 PIK3CA NSD1
4
Cytoskeleton remodeling_Role of PDGFs in cell migration 22
10.52 PIK3CA PDGFRB
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GO Terms for Overgrowth Syndrome

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Biological processes related to Overgrowth Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.67 NPR2 NPPC IGF2
2 positive regulation of mitotic nuclear division GO:0045840 9.55 PDGFRB IGF2
3 regulation of multicellular organism growth GO:0040014 9.54 PIK3CA NPPC
4 cGMP-mediated signaling GO:0019934 9.52 NPR2 NPPC
5 regulation of gene expression by genetic imprinting GO:0006349 9.51 IGF2 DNMT3A
6 cGMP biosynthetic process GO:0006182 9.48 NPR2 NPPC
7 reproductive process GO:0022414 9.46 NPR2 NPPC
8 receptor guanylyl cyclase signaling pathway GO:0007168 9.43 NPR2 NPPC
9 positive regulation of cGMP-mediated signaling GO:0010753 9.4 NPR2 NPPC
10 histone H3-K36 methylation GO:0010452 9.37 SETD2 NSD1
11 embryonic placenta morphogenesis GO:0060669 9.32 SETD2 IGF2
12 negative regulation of meiotic cell cycle GO:0051447 9.26 NPR2 NPPC
13 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.16 PIK3CA IGF2
14 negative regulation of oocyte maturation GO:1900194 8.96 NPR2 NPPC
15 cell migration involved in vasculogenesis GO:0035441 8.62 SETD2 PDGFRB

Molecular functions related to Overgrowth Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase activity (H3-K36 specific) GO:0046975 8.62 SETD2 NSD1
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Sources for Overgrowth Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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