MCID: OVR082
MIFTS: 50

Overgrowth Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Overgrowth Syndrome

MalaCards integrated aliases for Overgrowth Syndrome:

Name: Overgrowth Syndrome 58 29
Overgrowth 29 6

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA93460

Summaries for Overgrowth Syndrome

MalaCards based summary : Overgrowth Syndrome, also known as overgrowth, is related to facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome and epiphyseal chondrodysplasia, miura type. 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 Pathways Affected in Adenoid Cystic Carcinoma. The drugs Clindamycin and Lubiprostone have been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and liver, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Overgrowth Syndrome

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 854)
# Related Disease Score Top Affiliating Genes
1 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 34.1 KCNK4-TEX40 KCNK4
2 epiphyseal chondrodysplasia, miura type 31.9 NPR2 NPPC
3 weaver syndrome 31.7 SETD2 NSD1 NFIX GPC3 DNMT3A DIS3L2
4 beckwith-wiedemann syndrome 31.3 NSD1 IGF2 H19-ICR GPC3 DNMT3A
5 sotos syndrome 1 31.1 SETD2 NSD1 NFIX GPC3 DNMT3A CHD8
6 macrodactyly 30.2 PIK3CA NPR2
7 marshall-smith syndrome 30.0 NSD1 NFIX
8 wilms tumor predisposition 28.7 NSD1 IGF2 H19-ICR GPC3 DIS3L2
9 leukemia, acute myeloid 28.6 SETD2 PIK3CA PDGFRB NSD1 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 acromegaloid features, overgrowth, cleft palate, and hernia 12.3
16 overgrowth-macrocephaly-facial dysmorphism syndrome 12.3
17 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 12.3
18 vertebral body fusion overgrowth 12.3
19 pik3ca-related overgrowth syndrome 12.2
20 eed-related overgrowth 12.2
21 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 12.1
22 overgrowth syndrome with 2q37 translocation 12.1
23 genetic overgrowth/obesity syndrome 12.1
24 overgrowth/obesity syndrome 12.1
25 non syndromic limb overgrowth 12.1
26 overgrowth or tall stature syndrome with skeletal involvement 12.1
27 chromosomal disease with overgrowth 12.1
28 tatton-brown-rahman syndrome 12.0
29 simpson-golabi-behmel syndrome 11.9
30 sotos syndrome 2 11.7
31 macrocephaly, dysmorphic facies, and psychomotor retardation 11.7
32 rahman syndrome 11.6
33 fibromatosis, gingival, 1 11.6
34 blind loop syndrome 11.5
35 proteus syndrome 11.5
36 sclerosteosis 11.5
37 perlman syndrome 11.5
38 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
39 nevus, epidermal 11.4
40 capillary malformation-arteriovenous malformation 1 11.4
41 loeys-dietz syndrome 5 11.4
42 developmental delay with variable intellectual impairment and behavioral abnormalities 11.4
43 imagawa-matsumoto syndrome 11.4
44 facial infiltrating lipomatosis 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 momo syndrome 11.3
49 tenorio syndrome 11.3
50 pyogenic granuloma 11.3

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



Diseases related to Overgrowth Syndrome

Symptoms & Phenotypes for Overgrowth Syndrome

MGI Mouse Phenotypes related to Overgrowth Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 APC2 CHD8 DIS3L2 DNMT3A EML1 IGF2
2 growth/size/body region MP:0005378 10.13 APC2 CHD8 DIS3L2 DNMT3A EML1 GPC3
3 craniofacial MP:0005382 10.01 EML1 GPC3 IGF2 NFIX NPPC NPR2
4 embryo MP:0005380 9.97 CHD8 DNMT3A GPC3 IGF2 NSD1 PDGFRB
5 mortality/aging MP:0010768 9.93 CHD8 DIS3L2 DNMT3A GPC3 IGF2 NFIX
6 limbs/digits/tail MP:0005371 9.73 GPC3 IGF2 NPPC NPR2 PDGFRB SETD2
7 nervous system MP:0003631 9.73 APC2 CHD8 DNMT3A EML1 IGF2 KCNK4
8 skeleton MP:0005390 9.36 DIS3L2 DNMT3A EML1 GPC3 IGF2 NFIX

Drugs & Therapeutics for Overgrowth Syndrome

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

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
3
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
4
Lactulose Approved Phase 4 4618-18-2 11333
5
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
6
Olodaterol Approved Phase 4 868049-49-4
7
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
8 Fluoroquinolones Phase 4
9 Clindamycin phosphate Phase 4
10 Clindamycin palmitate 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 Amoxicillin-Potassium Clavulanate Combination Phase 4
17 beta-Lactamase Inhibitors Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Cathartics Phase 4
20 Laxatives Phase 4
21 Polyethylene glycol 3350 Phase 4
22 Respiratory System Agents Phase 4
23 Parasympatholytics Phase 4
24 Anti-Allergic Agents Phase 4
25 Anti-Asthmatic Agents Phase 4
26 Bronchodilator Agents Phase 4
27 Tiotropium Bromide Phase 4 136310-93-5
28 Cholinergic Antagonists Phase 4
29
Propranolol Approved, Investigational Phase 3 525-66-6 4946
30
Sodium citrate Approved, Investigational Phase 3 68-04-2
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 36294 5496
35
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
36
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
37
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
38
Fosamprenavir Approved Phase 3 226700-79-4 131536
39
Glycerol Approved, Investigational Phase 3 56-81-5 753
40
Ceftriaxone Approved Phase 3 73384-59-5 5361919 5479530
41
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
42
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
43
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
44
Penicillin G Approved, Vet_approved Phase 3 61-33-6 5904
45
Ampicillin Approved, Vet_approved Phase 3 69-53-4 6249
46
Procaine Approved, Investigational, Vet_approved Phase 3 59-46-1 4914
47
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
48 Adrenergic beta-Antagonists Phase 3
49 Antihypertensive Agents Phase 3
50 Adrenergic Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 263)
# 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 The Role of Breath Testing in Enriching the Likelihood of Response to Rifaximin in Patients With Diarrhea IBS Recruiting NCT03729271 Phase 4 Rifaximin
15 Antibiotic-associated Gastrointestinal Side Effects and the Role of the Gut Microbiome Recruiting NCT04156555 Phase 4 Amoxicillin-Clavulanate 875 Mg-125 Mg Oral Tablet
16 Cystic Fibrosis and Gut Dysmotility: The Effect of Polyethylene Glycol (PEG) on Intestinal Transit Recruiting NCT04210427 Phase 4 Polyethylene Glycol 3350
17 INvestigating COPD Outcomes, Genomics and Neutrophilic Inflammation With Tiotropium and Olodaterol Recruiting NCT03152149 Phase 4 Tiotropium & olodaterol;fluticasone furoate & vilanterol
18 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
19 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
20 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
21 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
22 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
23 Lactobacillus Reuteri in Treatment of Functional Abdominal Pain and Chronic Constipation in Children - Randomized, Double Blind, Placebo Controlled Study Unknown status NCT01587846 Phase 3
24 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
25 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
26 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
27 Weight Loss in Parkinson's Disease and the Potential Role of Small Bowel Bacterial Overgrowth Completed NCT01662791 Phase 3 Rifaximin
28 Treating Bacterial Overgrowth in Parkinson's Disease Completed NCT02470780 Phase 2, Phase 3 Rifaximin;Placebo
29 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
30 Bifidobacterium Infantis M-63 Improves Mental Health in Irritable Bowel Syndrome Developed After a Major Flood Disaster Completed NCT03318614 Phase 2, Phase 3
31 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
32 Lactobacillus GG in the Prophylaxis of Ventilator Associated Pneumonia: A Prospective, Randomized, Placebo-controlled, Double-blind Study Completed NCT00613795 Phase 3
33 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
34 A Randomized, Controlled Trial of the Efficacy, Safety, and Acceptability of BufferGel Completed NCT00065858 Phase 2, Phase 3 BufferGel
35 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
36 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
37 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
38 The Effect of a Systemic Oral Care Program on Reducing Exposure to Oropharyngeal Pathogens in Critically III Patients Completed NCT00078663 Phase 3
39 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
40 A Prospective, Randomised Placebo Controlled Feasibility Trial of Faecal Microbiota Transplantation in Cirrhosis Recruiting NCT02862249 Phase 3
41 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)
42 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
43 First Line Antimicrobials in Children With Complicated Severe Acute Malnutrition Active, not recruiting NCT03174236 Phase 3 Ceftriaxone;Benzyl penicillin;Metronidazole;Gentamicin
44 Evaluation of the Therapeutic Effect of Rifaximin on Covert Hepatic Encephalopathy With Underlying Small Intestinal Bacterial Overgrowth and Gastrointestinal Dysmotility in Liver Cirrhosis Patients Not yet recruiting NCT04244877 Phase 3 Rifaximin
45 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
46 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
47 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
48 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)
49 Pilot Study: Investigating a Novel Supplement-based Therapy for the Treatment of Small Intestinal Bacterial Overgrowth Unknown status NCT03420976 Phase 1, Phase 2
50 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

Search NIH Clinical Center for Overgrowth Syndrome

Genetic Tests for Overgrowth Syndrome

Genetic tests related to Overgrowth Syndrome:

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

Anatomical Context for Overgrowth Syndrome

MalaCards organs/tissues related to Overgrowth Syndrome:

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

Publications for Overgrowth Syndrome

Articles related to Overgrowth Syndrome:

(show top 50) (show all 12024)
# Title Authors PMID Year
1
Long-term beneficial effects of hematopoietic growth factors on brain repair in the chronic phase of severe traumatic brain injury. 61
32360282 2020
2
Improved human islets' viability and functionality with mesenchymal stem cells and arg-gly-asp tripeptides supplementation of alginate micro-encapsulated islets in vitro. 61
32513541 2020
3
Real-ambient exposure to air pollution exaggerates excessive growth of adipose tissue modulated by Nrf2 signal. 61
32416500 2020
4
Elevated levels of Drosophila Wdr62 promote glial cell growth and proliferation through AURKA signalling to AKT and MYC. 61
32246948 2020
5
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. 61
32277047 2020
6
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. 61
32500973 2020
7
Duodenal bacterial load as determined by quantitative polymerase chain reaction in asymptomatic controls, functional gastrointestinal disorders and inflammatory bowel disease. 61
32412673 2020
8
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. 61
32291752 2020
9
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
10
Gestational diabetes and fetal overgrowth: time to rethink screening guidelines. 61
32559469 2020
11
Thyroid Deficiency Before Birth Alters the Adipose Transcriptome to Promote Overgrowth of White Adipose Tissue and Impair Thermogenic Capacity. 61
32070265 2020
12
Candidiasis and Mechanisms of Antifungal Resistance. 61
32526921 2020
13
Biosurfactant from vaginal Lactobacillus crispatus BC1 as a promising agent to interfere with Candida adhesion. 61
32552788 2020
14
BCOR Expression in Mullerian Adenosarcoma: A Potential Diagnostic Pitfall. 61
32011345 2020
15
The interplay between the gut microbiota and NLRP3 activation affects the severity of acute pancreatitis in mice. 61
32529941 2020
16
SPOCK1 is a novel inducer of epithelial to mesenchymal transition in drug-induced gingival overgrowth. 61
32555336 2020
17
Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early-onset colonic diverticular disease. 61
32567170 2020
18
Pre-pregnancy maternal obesity, macrosomia, and risk of stillbirth: A population-based study. 61
32562938 2020
19
Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue. 61
32500425 2020
20
Impact of vascular anomalies on the PTEN phenotype in children and young adults. 61
32196895 2020
21
Regulation of epithelial integrity and organ growth by Tctp and Coracle in Drosophila. 61
32559217 2020
22
Study of Small Intestinal Bacterial Overgrowth in a Cohort of Patients with Abdominal Symptoms Who Underwent Bariatric Surgery. 61
32048154 2020
23
FoxO suppresses endoplasmic reticulum stress to inhibit growth of Tsc1-deficient tissues under nutrient restriction. 61
32525804 2020
24
Evidence against the "normalization" prediction of the early brain overgrowth hypothesis of autism. 61
32552879 2020
25
PTEN hamartoma tumour syndrome: What happens when there is no PTEN germline mutation? 61
32568377 2020
26
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association? 61
32573107 2020
27
Allelic heterogeneity of Proteus syndrome. 61
32327430 2020
28
Exploring the effects of carbon source level on the degradation of 2,4,6-trichlorophenol in the co-metabolism process. 61
32097852 2020
29
Bisphenol S Induces Ectopic Angiogenesis in Embryos via VEGFR2 Signaling, Leading to Lipid Deposition in Blood Vessels of Larval Zebrafish. 61
32348130 2020
30
A Prospective Multicenter Study on the Prevalence of Fructose Malabsorption in Patients with Chronic Inflammatory Bowel Disease. 61
32516791 2020
31
MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells. 61
32291963 2020
32
Prospects of NSAIDs administration as double-edged agents against endometrial cancer and pathological species of the uterine microbiome. 61
32174282 2020
33
Investigating global gene expression changes in a murine model of cherubism. 61
32165349 2020
34
Novel Rifampicin and Indocyanine Green Co-Loaded Perfluorocarbon Nanodroplets Provide Effective In Vivo Photo-Chemo-Probiotic Antimicrobility against Pathogen of Acne Vulgaris Cutibacterium acnes. 61
32492862 2020
35
Microorganisms populating the water-related indoor biome. 61
32533304 2020
36
Volatile basic nitrogen measurement in digesta using a Berthelot reaction in automated Skalar instrumentation. 61
32542204 2020
37
A newly designed uncovered biliary stent for palliation of malignant obstruction: results of a prospective study. 61
32522161 2020
38
Heat stress-induced deficits in growth, metabolic efficiency, and cardiovascular function coincided with chronic systemic inflammation and hypercatecholaminemia in ractopamine-supplemented feedlot lambs. 61
32428228 2020
39
Cardiac xenotransplantation: a promising way to treat advanced heart failure. 61
32572737 2020
40
Management of adverse events of EUS-directed transgastric ERCP procedure. 61
32529164 2020
41
Review of the management of diarrhea syndrome after a bariatric surgery. 61
31843494 2020
42
Fetal macrosomia in a Hispanic/Latinx predominant cohort and altered expressions of genes related to placental lipid transport and metabolism. 61
32494035 2020
43
DendroPrime as an adhesion barrier on fracture fixation plates: an experimental study in rabbits. 61
32558616 2020
44
Minimal Hepatic Encephalopathy: Effect of H. pylori infection and small intestinal bacterial overgrowth treatment on clinical outcomes. 61
32572109 2020
45
Short-course Rifaximin therapy efficacy and lactulose hydrogen breath test in Chinese patients with diarrhea-predominant irritable bowel syndrome. 61
32532214 2020
46
A meta-analysis on small intestinal bacterial overgrowth in patients with different subtypes of irritable bowel syndrome. 61
31750966 2020
47
Oxidative stress and inflammatory markers in type 2 diabetic patients. 61
32298466 2020
48
Maldigestion Versus Malabsorption in the Elderly. 61
32500383 2020
49
Drug Eluting Versus Covered Metal Stents in Malignant Biliary Strictures-Is There a Clinical Benefit?: A Systematic Review and Meta-Analysis. 61
32554989 2020
50
Unique sequence-dependent properties of trinucleotide repeat monolayers: electrochemical, electrical, and topographic characterization. 61
32432300 2020

Variations for Overgrowth Syndrome

ClinVar genetic disease variations for Overgrowth Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1copy number loss Pathogenic 694603
2 46;XX;t(2;11)(q11.2;p13)dnTranslocation Pathogenic 267861
3 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
4 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)SNV Pathogenic/Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
5 CHD8 NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)SNV Likely pathogenic 870572 14:21884051-21884051 14:21415892-21415892
6 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
7 46;XY;t(20;22)(q13.3;q11.2)Translocation Uncertain significance 267893
8 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

Expression for Overgrowth Syndrome

Search GEO for disease gene expression data for Overgrowth Syndrome.

Pathways for Overgrowth Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.75 PIK3CA PDGFRB DNMT3A APC2
2 10.62 SETD2 PIK3CA NSD1
3 10.52 PIK3CA PDGFRB

GO Terms for Overgrowth Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.86 SETD2 NSD1 DNMT3A CHD8
2 cell migration GO:0016477 9.81 PIK3CA PDGFRB GPC3 APC2
3 ossification GO:0001503 9.7 NPR2 NPPC IGF2
4 cGMP-mediated signaling GO:0019934 9.57 NPR2 NPPC
5 histone lysine methylation GO:0034968 9.55 SETD2 NSD1
6 regulation of gene expression by genetic imprinting GO:0006349 9.54 IGF2 DNMT3A
7 cGMP biosynthetic process GO:0006182 9.49 NPR2 NPPC
8 reproductive process GO:0022414 9.48 NPR2 NPPC
9 receptor guanylyl cyclase signaling pathway GO:0007168 9.46 NPR2 NPPC
10 negative regulation of fibroblast apoptotic process GO:2000270 9.43 PIK3CA CHD8
11 histone H3-K36 methylation GO:0010452 9.4 SETD2 NSD1
12 positive regulation of cGMP-mediated signaling GO:0010753 9.37 NPR2 NPPC
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 for Overgrowth Syndrome

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
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