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MCID: OVR082
MIFTS: 51

Overgrowth Syndrome

Categories: Fetal 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 59 29
Overgrowth 29 6

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 34 Q87.3
Orphanet 59 ORPHA93460
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Summaries for Overgrowth Syndrome

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MalaCards based summary : Overgrowth Syndrome, also known as overgrowth, is related to perlman 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

Wikipedia : 75 Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue... more...

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Related Diseases for Overgrowth Syndrome

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

(show top 50) (show all 834)
# Related Disease Score Top Affiliating Genes
1 perlman syndrome 32.5 GPC3 DIS3L2
2 proteus syndrome 32.1 PIK3CA IGF2 GPC3
3 sotos syndrome 1 31.3 SETD2 NSD1 NFIX GPC3 APC2
4 beckwith-wiedemann syndrome 30.9 NSD1 IGF2 H19-ICR GPC3
5 macrodactyly 30.4 PIK3CA NPR2
6 macrocephaly/megalencephaly syndrome, autosomal recessive 30.2 NSD1 FIBP
7 marshall-smith syndrome 30.1 NSD1 NFIX
8 acromesomelic dysplasia 29.8 NPR2 NPPC
9 umbilical hernia 29.5 IGF2 DNMT3A
10 kosaki overgrowth syndrome 12.6
11 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.6
12 global developmental delay, lung cysts, overgrowth, and wilms tumor 12.5
13 gingival overgrowth 12.4
14 dnmt3a overgrowth syndrome 12.4
15 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 12.4
16 acromegaloid features, overgrowth, cleft palate, and hernia 12.3
17 overgrowth-macrocephaly-facial dysmorphism syndrome 12.3
18 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 12.3
19 vertebral body fusion overgrowth 12.3
20 pik3ca-related overgrowth syndrome 12.2
21 eed-related overgrowth 12.2
22 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 12.1
23 overgrowth syndrome with 2q37 translocation 12.1
24 genetic overgrowth/obesity syndrome 12.1
25 overgrowth/obesity syndrome 12.1
26 obsolete: congenital vascular bone syndrome with limb overgrowth 12.1
27 non syndromic limb overgrowth 12.1
28 overgrowth or tall stature syndrome with skeletal involvement 12.1
29 chromosomal disease with overgrowth 12.1
30 tatton-brown-rahman syndrome 12.0
31 simpson-golabi-behmel syndrome 11.9
32 weaver syndrome 11.9
33 sotos syndrome 2 11.7
34 macrocephaly, dysmorphic facies, and psychomotor retardation 11.7
35 rahman syndrome 11.6
36 fibromatosis, gingival, 1 11.6
37 blind loop syndrome 11.5
38 sclerosteosis 11.5
39 nevus, epidermal 11.4
40 thauvin-robinet-faivre syndrome 11.4
41 cohen-gibson syndrome 11.4
42 capillary malformation-arteriovenous malformation 1 11.4
43 loeys-dietz syndrome 5 11.4
44 developmental delay with variable intellectual impairment and behavioral abnormalities 11.4
45 simpson-golabi-behmel syndrome, type 1 11.4
46 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.4
47 hemihyperplasia, isolated 11.3
48 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
49 momo syndrome 11.3
50 epiphyseal chondrodysplasia, miura type 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 APC2 DNMT3A GPC3 IGF2 NFIX NPPC
2 craniofacial MP:0005382 9.95 GPC3 IGF2 NFIX NPPC NPR2 PDGFRB
3 embryo MP:0005380 9.91 DNMT3A GPC3 IGF2 NSD1 PDGFRB PIK3CA
4 nervous system MP:0003631 9.85 APC2 DNMT3A IGF2 KCNK4 NFIX NPPC
5 limbs/digits/tail MP:0005371 9.73 GPC3 IGF2 NPPC NPR2 PDGFRB SETD2
6 reproductive system MP:0005389 9.56 APC2 DNMT3A GPC3 IGF2 NPPC NPR2
7 skeleton MP:0005390 9.23 GPC3 IGF2 NFIX NPPC NPR2 PDGFRB
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
Olodaterol Approved Phase 4 868049-49-4
6
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
7
Lactulose Approved Phase 4 4618-18-2 11333
8 Fluoroquinolones Phase 4
9 Clindamycin palmitate Phase 4
10 Clindamycin phosphate Phase 4
11 Cola Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Cholinergic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Bromides Phase 4
16 Anti-Inflammatory Agents Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Respiratory System Agents Phase 4
19 Autonomic Agents Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Bronchodilator Agents Phase 4
22 Parasympatholytics Phase 4
23 Anti-Allergic Agents Phase 4
24 Tiotropium Bromide Phase 4 136310-93-5
25 Cholinergic Antagonists Phase 4
26
Propranolol Approved, Investigational Phase 3 525-66-6 4946
27
Sodium citrate Approved, Investigational Phase 3 68-04-2
28
leucovorin Approved Phase 3 58-05-9 143 6006
29
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
30
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
31
Norfloxacin Approved Phase 3 70458-96-7 4539
32
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
33
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
34
Glycerol Approved, Investigational Phase 3 56-81-5 753
35
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
36
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
37
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
38
Metronidazole Approved Phase 3 443-48-1 4173
39
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
40
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
41
Penicillin G Approved, Vet_approved Phase 3 61-33-6 5904
42
Ampicillin Approved, Vet_approved Phase 3 69-53-4 6249
43
Procaine Approved, Investigational, Vet_approved Phase 3 59-46-1 4914
44
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
46 Gastrointestinal Agents Phase 3
47 Vasodilator Agents Phase 3
48 Antihypertensive Agents Phase 3
49 Adrenergic beta-Antagonists Phase 3
50 Adrenergic Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 234)
# 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 Reduces the Complications of Decompensated Cirrhosis Unknown status NCT02190357 Phase 4 Rifaximin
4 Rifaximin Predicts the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial Unknown status NCT02074280 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 INvestigating COPD Outcomes, Genomics and Neutrophilic Inflammation With Tiotropium and Olodaterol Recruiting NCT03152149 Phase 4 Tiotropium & olodaterol;fluticasone furoate & vilanterol
15 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
16 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
17 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
18 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
19 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
20 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
21 Lactobacillus Reuteri in Treatment of Functional Abdominal Pain and Chronic Constipation in Children - Randomized, Double Blind, Placebo Controlled Study Unknown status NCT01587846 Phase 3
22 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
23 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
24 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
25 Weight Loss in Parkinson's Disease and the Potential Role of Small Bowel Bacterial Overgrowth Completed NCT01662791 Phase 3 Rifaximin
26 Treating Bacterial Overgrowth in Parkinson's Disease Completed NCT02470780 Phase 2, Phase 3 Rifaximin;Placebo
27 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
28 Bifidobacterium Infantis M-63 Improves Mental Health in Irritable Bowel Syndrome Developed After a Major Flood Disaster Completed NCT03318614 Phase 2, Phase 3
29 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
30 Lactobacillus GG in the Prophylaxis of Ventilator Associated Pneumonia: A Prospective, Randomized, Placebo-controlled, Double-blind Study Completed NCT00613795 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 A Randomized, Controlled Trial of the Efficacy, Safety, and Acceptability of BufferGel Completed NCT00065858 Phase 2, Phase 3 BufferGel
33 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
34 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
35 The Effect of a Systemic Oral Care Program on Reducing Exposure to Oropharyngeal Pathogens in Critically III Patients Completed NCT00078663 Phase 3
36 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
37 A Prospective, Randomised Placebo Controlled Feasibility Trial of Faecal Microbiota Transplantation in Cirrhosis Recruiting NCT02862249 Phase 3
38 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)
39 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
40 First Line Antimicrobials in Children With Complicated Severe Acute Malnutrition Not yet recruiting NCT03174236 Phase 3 Ceftriaxone;Benzyl penicillin plus gentamicin;Metronidazole
41 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
42 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
43 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
44 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)
45 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
46 Pharmacokinetics of Antimicrobials and Carriage of Antimicrobial Resistance Amongst Hospitalised Children With Severe Acute Malnutrition Unknown status NCT02746276 Phase 2 Ceftriaxone;Metronidazole
47 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
48 Phase 2 Study of the Efficacy and Safety of 3% Povidone-Iodine in Acne Therapy Unknown status NCT02126709 Phase 2 Repigel
49 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
50 A Double Blind, Randomized Controlled Prospective Trial of Endo-biliary Radio-frequency Ablation for Maintenance of Metal Stent Patency in Patients With Malignant Obstructive Jaundice Unknown status NCT01275768 Phase 1, Phase 2

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:

41
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 11476)
# Title Authors PMID Year
1
A Review of the Potential of Chilean Native Berries in the Treatment of Obesity and its Related Features. 38
31278560 2019
2
Specific inhibitors of lysozyme and peptidases inhibit the growth of the rumen protozoan Entodinium caudatum without decreasing feed digestion or fermentation in vitro. 38
31165532 2019
3
Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome. 38
31144574 2019
4
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. 38
31339634 2019
5
Fructose malabsorption in asymptomatic children and in patients with functional chronic abdominal pain: a prospective comparative study. 38
31325029 2019
6
Can Lipomatosis of the Nerve Occur or Extend Intradurally? 38
31154102 2019
7
Nerve fiber overgrowth in patients with symptomatic diverticular disease. 38
30838745 2019
8
Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders. 38
31272685 2019
9
The Clinical Spectrum of PTEN Mutations. 38
31433956 2019
10
Microbiome and skin biology. 38
31107258 2019
11
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female. 38
31038288 2019
12
Congenital hyperinsulinism disorders: Genetic and clinical characteristics. 38
31414570 2019
13
In Vitro Coral Biomineralization under Relevant Aragonite Supersaturation Conditions. 38
30840343 2019
14
Effective systemic siRNA delivery using dual-layer protected long-circulating nanohydrogel containing an inorganic core. 38
31187795 2019
15
Disorder-to-Order Transition Mediated by Size Refocusing: A Route toward Monodisperse Intermetallic Nanoparticles. 38
31430166 2019
16
Strong leaf surface basification and CO2 limitation of seagrass induced by epiphytic biofilm microenvironments. 38
31429088 2019
17
Development of a two-stage in vitro model system to investigate the mineralization mechanisms involved in idiopathic stone formation: stage 1-biomimetic Randall's plaque using decellularized porcine kidneys. 38
29777258 2019
18
Astroglial dysfunctions drive aberrant synaptogenesis and social behavioral deficits in mice with neonatal exposure to lengthy general anesthesia. 38
31433818 2019
19
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay. 38
31290289 2019
20
Hepatic portal venous gas associated with Klebsiella oxytoca infection in the absence of preceding antibiotic treatment. 38
30739249 2019
21
The MOCART (Magnetic Resonance Observation of Cartilage Repair Tissue) 2.0 Knee Score and Atlas. 38
31422674 2019
22
Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task. 38
30734385 2019
23
Lack of short-chain fatty acids and overgrowth of opportunistic pathogens define dysbiosis of neuromyelitis optica spectrum disorders: A Chinese pilot study. 38
30113252 2019
24
Development of a two-stage model system to investigate the mineralization mechanisms involved in idiopathic stone formation: stage 2 in vivo studies of stone growth on biomimetic Randall's plaque. 38
30218116 2019
25
Substance P induces fibrotic changes through activation of the RhoA/ROCK pathway in an in vitro human corneal fibrosis model. 38
31399750 2019
26
Keeping Candida commensal - How lactobacilli antagonize pathogenicity of Candida albicans in an in vitro gut model. 38
31413153 2019
27
Hypertrophic muscle growth and metabolic efficiency were impaired by chronic heat stress, improved by zilpaterol supplementation, and not affected by ractopamine supplementation in feedlot lambs. 38
31410479 2019
28
Unequaled overgrowth inside and out-an exceptional example of hypertrichosis overlying plexiform neurofibroma. 38
31388536 2019
29
Pyoderma faciale in a patient with small intestinal bacterial overgrowth. 38
30968945 2019
30
Intragastric balloon hyperinflation secondary to polymicrobial overgrowth associated with proton pump inhibitor use. 38
30935931 2019
31
Excessive Pannus Overgrowth on the Aortic Side of Trifecta Valve Causing Severe Regurgitation. 38
30684483 2019
32
Controlled Overgrowth of Five-Fold Concave Nanoparticles into Plasmonic Nanostars and Their Single-Particle Scattering Properties. 38
31419107 2019
33
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. 38
30919936 2019
34
Maternal transmission of an Igf2r domain 11: IGF2 binding mutant allele (Igf2rI1565A) results in partial lethality, overgrowth and intestinal adenoma progression. 38
31388182 2019
35
High occurrence of small intestinal bacterial overgrowth in primary biliary cholangitis. 38
31373141 2019
36
Composition modulation by twinning in InAsSb nanowires. 38
30566920 2019
37
Proton Pump Inhibitors Are Associated With Minimal and Overt Hepatic Encephalopathy and Increased Mortality in Patients With Cirrhosis. 38
30289992 2019
38
Bacterial Microcompartment-Mediated Ethanolamine Metabolism in Escherichia coli Urinary Tract Infection. 38
31138611 2019
39
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases. 38
30677207 2019
40
[Current concepts on the pathogenesis of urinary stones]. 38
31432240 2019
41
Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes. 38
31371346 2019
42
Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome. 38
31330249 2019
43
CLAPO syndrome: Effective response to treatment with oral rapamycin. 38
31172613 2019
44
Circulating IGF-1 promotes prostate adenocarcinoma via FOXO3A/BIM signaling in a double-transgenic mouse model. 38
31312023 2019
45
Importance of gut microbiota in obesity. 38
30487562 2019
46
Exercise prevents the adverse effects of maternal obesity on placental vascularization and fetal growth. 38
31115053 2019
47
AGA Technical Review on the Evaluation of Functional Diarrhea and Diarrhea-Predominant Irritable Bowel Syndrome in Adults. 38
31351880 2019
48
The clinical presentation caused by truncating CHD8 variants. 38
31001818 2019
49
A stented bovine pericardial prosthesis in the pulmonary position. 38
31400815 2019
50
Increased Fecal Lactobacillus Is Associated With a Positive Glucose Hydrogen Breath Test in Bangladeshi Children. 38
31281862 2019
Sources

Variations for Overgrowth Syndrome

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ClinVar genetic disease variations for Overgrowth Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;t(2;11)(q11.2;p13)dn Translocation Pathogenic
2 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 5:176710828-176710828 5:177283827-177283827
3 FIBP NM_198897.2(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 11:65652652-65652652 11:65885181-65885181
4 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
5 46;XY;t(20;22)(q13.3;q11.2) Translocation Uncertain significance
6 PIK3CA NM_006218.4(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 3:178921589-178921589 3:179203801-179203801

Copy number variations for Overgrowth Syndrome from CNVD:

7 (show all 21)
# CNVD ID Chromosom 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.
Sources

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 37
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
Sources

GO Terms for Overgrowth Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.74 PIK3CA PDGFRB IGF2
2 ossification GO:0001503 9.67 NPR2 NPPC IGF2
3 regulation of multicellular organism growth GO:0040014 9.56 PIK3CA NPPC
4 positive regulation of mitotic nuclear division GO:0045840 9.55 PDGFRB IGF2
5 histone lysine methylation GO:0034968 9.54 SETD2 NSD1
6 cGMP-mediated signaling GO:0019934 9.52 NPR2 NPPC
7 regulation of gene expression by genetic imprinting GO:0006349 9.51 IGF2 DNMT3A
8 receptor guanylyl cyclase signaling pathway GO:0007168 9.48 NPR2 NPPC
9 cGMP biosynthetic process GO:0006182 9.46 NPR2 NPPC
10 reproductive process GO:0022414 9.43 NPR2 NPPC
11 positive regulation of cGMP-mediated signaling GO:0010753 9.4 NPR2 NPPC
12 histone H3-K36 methylation GO:0010452 9.37 SETD2 NSD1
13 embryonic placenta morphogenesis GO:0060669 9.32 SETD2 IGF2
14 negative regulation of meiotic cell cycle GO:0051447 9.26 NPR2 NPPC
15 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.16 PIK3CA IGF2
16 negative regulation of oocyte maturation GO:1900194 8.96 NPR2 NPPC
17 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
Sources

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
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32 HPO
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73 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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