MCID: OVR082
MIFTS: 49

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 Ciprofloxacin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and endothelial, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 Overgrowth syndromes in children constitute a group of rare disorders that are characterised by tissue... more...

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 858)
# Related Disease Score Top Affiliating Genes
1 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 32.4 KCNK4-TEX40 KCNK4
2 epiphyseal chondrodysplasia, miura type 31.3 NPR2 NPPC
3 weaver syndrome 31.2 SETD2 NSD1 NFIX GPC3 DNMT3A DIS3L2
4 beckwith-wiedemann syndrome 30.8 NSD1 IGF2 H19-ICR GPC3 DNMT3A
5 sotos syndrome 1 30.6 SETD2 NSD1 NFIX GPC3 DNMT3A CHD8
6 macrodactyly 29.8 PIK3CA NPR2
7 wilms tumor predisposition 29.2 NSD1 IGF2 H19-ICR GPC3 DIS3L2
8 leukemia, acute myeloid 29.0 SETD2 PIK3CA PDGFRB NSD1 DNMT3A
9 kosaki overgrowth syndrome 11.6
10 dnmt3a overgrowth syndrome 11.4
11 tatton-brown-rahman syndrome 11.4
12 gingival overgrowth 11.4
13 global developmental delay, lung cysts, overgrowth, and wilms tumor 11.4
14 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.3
15 simpson-golabi-behmel syndrome 11.3
16 sotos syndrome 2 11.2
17 macrocephaly, dysmorphic facies, and psychomotor retardation 11.2
18 acromegaloid features, overgrowth, cleft palate, and hernia 11.2
19 vertebral body fusion overgrowth 11.1
20 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 11.1
21 blind loop syndrome 11.1
22 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.1
23 fibromatosis, gingival, 1 11.1
24 pik3ca-related overgrowth syndrome 11.0
25 perlman syndrome 11.0
26 sclerosteosis 11.0
27 tetrasomy 15q26 11.0
28 barnicoat baraitser syndrome 11.0
29 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 11.0
30 overgrowth syndrome with 2q37 translocation 11.0
31 craniometaphyseal dysplasia, autosomal dominant 11.0
32 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.9
33 simpson-golabi-behmel syndrome, type 1 10.9
34 nevus, epidermal 10.9
35 capillary malformation-arteriovenous malformation 1 10.9
36 parkes weber syndrome 10.9
37 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
38 tenorio syndrome 10.9
39 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.9
40 loeys-dietz syndrome 5 10.9
41 developmental delay with variable intellectual impairment and behavioral abnormalities 10.9
42 imagawa-matsumoto syndrome 10.9
43 facial infiltrating lipomatosis 10.9
44 eed-related overgrowth 10.9
45 overgrowth-macrocephaly-facial dysmorphism syndrome 10.9
46 hyperostosis cranialis interna 10.9
47 amelogenesis imperfecta, type ig 10.9
48 van buchem disease 10.9
49 laryngoonychocutaneous syndrome 10.9
50 pleuropulmonary blastoma 10.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 APC2 CHD8 DIS3L2 DNMT3A EML1 IGF2
2 growth/size/body region MP:0005378 10.07 APC2 CHD8 DIS3L2 DNMT3A EML1 GPC3
3 mortality/aging MP:0010768 9.97 CHD8 DIS3L2 DNMT3A EML1 GPC3 IGF2
4 craniofacial MP:0005382 9.92 EML1 GPC3 IGF2 NFIX NPPC NPR2
5 nervous system MP:0003631 9.73 APC2 CHD8 DNMT3A EML1 IGF2 KCNK4
6 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 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
2
Metronidazole Approved Phase 4 443-48-1 4173
3 Cytochrome P-450 Enzyme Inhibitors Phase 4
4 Fluoroquinolones Phase 4
5 Anti-Bacterial Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
10
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
11
tannic acid Approved Phase 2, Phase 3 1401-55-4
12
Parathyroid hormone Approved, Investigational Phase 2, Phase 3 9002-64-6
13
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6
14
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
15 Orange Approved Phase 2, Phase 3
16
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
17
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
18
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
19
Rifaximin Approved, Investigational Phase 3 80621-81-4 6436173 46783403
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
21
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
22 Antibiotics, Antitubercular Phase 2, Phase 3
23 Immunosuppressive Agents Phase 2, Phase 3
24 Nutrients Phase 2, Phase 3
25 Vitamin B Complex Phase 2, Phase 3
26 Micronutrients Phase 2, Phase 3
27 Hematinics Phase 2, Phase 3
28 Trace Elements Phase 2, Phase 3
29 Vitamins Phase 2, Phase 3
30 Vitamin B9 Phase 2, Phase 3
31 Folate Phase 2, Phase 3
32 Anti-Inflammatory Agents Phase 2, Phase 3
33 Hormones Phase 2, Phase 3
34 Liver Extracts Phase 3
35 pancreatin Phase 2, Phase 3
36 Estrogens Phase 2, Phase 3
37 Hormone Antagonists Phase 2, Phase 3
38 Iron Supplement Phase 2, Phase 3
39 glucocorticoids Phase 2, Phase 3
40 Immunoglobulins Phase 2, Phase 3
41 Autoantibodies Phase 2, Phase 3
42 Progestins Phase 2, Phase 3
43 Antineoplastic Agents, Hormonal Phase 2, Phase 3
44 Antibodies Phase 2, Phase 3
45 Calciferol Phase 2, Phase 3
46 Gastrointestinal Agents Phase 3
47
Ceftriaxone Approved Phase 2 73384-59-5 5479530 5361919
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
50
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Efficacy and Safety of Saccharomyces Boulardii CNCM I-745 in the Treatment of Small Intestinal Bacterial Overgrowth in Patients Suffering From Irritable Bowel Syndrome With Diarrhea Completed NCT04627337 Phase 4 Saccharomyces Boulardii 250 MG
5 The Role of Breath Testing in Enriching the Likelihood of Response to Rifaximin in Patients With Diarrhea IBS Recruiting NCT03729271 Phase 4 Rifaximin
6 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
7 Weight Loss in Parkinson's Disease and the Potential Role of Small Bowel Bacterial Overgrowth Completed NCT01662791 Phase 3 Rifaximin
8 Treating Bacterial Overgrowth in Parkinson's Disease Completed NCT02470780 Phase 2, Phase 3 Rifaximin;Placebo
9 Low Dose Prednisone Therapy in Women With Recurrent Pregnancy Loss Not yet recruiting NCT04558268 Phase 2, Phase 3 Prednisone;Progesterone
10 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
11 Pharmacokinetics of Antimicrobials and Carriage of Antimicrobial Resistance Amongst Hospitalised Children With Severe Acute Malnutrition Unknown status NCT02746276 Phase 2 Ceftriaxone;Metronidazole
12 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)
13 Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth Completed NCT02443818 Phase 2 Sirolimus
14 Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
15 Rifaximin in the Treatment of Small Intestinal Bacterial Overgrowth and IBS: Double Blind Randomized Controlled Trial (Multicenter Trial) Completed NCT00259155 Phase 2 Rifaximin
16 A Phase 1/2 Study of ARQ 092 (Miransertib) in Subjects With PIK3CA-related Overgrowth Spectrum (PROS) and Proteus Syndrome (PS) (MOSAIC) Recruiting NCT03094832 Phase 1, Phase 2 ARQ 092
17 A Randomized Open Label Trial Evaluating the Efficacy of AEMCOLO (Rifamycin SV MMX) in the Treatment of Small Intestinal Bacterial Overgrowth (SIBO) Recruiting NCT04501380 Phase 2 AEMCOLO (Rifamycin SV MMX)
18 EPIK-P2: A Phase II Double-blind Study With an Upfront, 16-week Randomized, Placebo-controlled Period, to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS) Not yet recruiting NCT04589650 Phase 2 Alpelisib;Placebo
19 A Multi-Centre, Open Label, Single Arm, Phase IB/IIA, Trial of Taselisib (GDC0032) in PIK3CA-Related Overgrowth Terminated NCT03290092 Phase 1, Phase 2 Taselisib (GDC0032);Taselisib (GDC0032)
20 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
21 Bacterial Overgrowth Associated With Chronic Multisymptom Illness Complex Unknown status NCT00956150 Phase 1 Rifaximin;Placebo
22 Evaluating Lip Repositioning for the Treatment of Excess Gingival Display With and Without Pretreatment With Botox: a Randomized Clinical Trial Not yet recruiting NCT04030767 Phase 1 Botox Injectable Product
23 Study on Clinical Features, Intestinal Flora and Standardized Treatment in Male Elderly With Small Intestinal Bacterial Overgrowth Unknown status NCT03659175
24 The Clinical Application of Diode Laser in Gingival Enlargement Related to Orthodontics Unknown status NCT01286298
25 The Role of Cholangioscopy and Biliary Radio Frequency Ablation in the Management of Occluded Biliary Self-expanding Metal Stent. Unknown status NCT03133026
26 Vascular Malformations and Abnormalities of Growth Completed NCT01105676
27 Retrospective Analysis of Treatment Outcomes in Patients With Bacterial Overgrowth Syndrome Diagnosed by D-Xylose Breath Testing Completed NCT01324895
28 Scalpel Versus Laser Gingivectomy in the Management of Periodontal Health During Orthodontic Treatment: a Randomized Controlled Clinical Trial Completed NCT03514316
29 Efficacy of Low-level Laser Therapy, Hyaluronic Acid Gel and Herbal Gel as Adjunctive Tools in Gingivectomy Wound Healing-A Randomised Comparative Clinical and Histological Study Completed NCT03569683
30 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026
31 The Determination of the Operative Temperature Levels Using Er:YAG Laser and Diode Laser Supported Resective Gingival Surgery and the Clinical and Biochemical Evaluation of it's Effect on Postoperative Imflammation, Epithelization and Pain Completed NCT04304391
32 Open-flap Versus Flapless Esthetic Crown Lengthening: 12-month Clinical Outcomes of a Randomized Controlled Clinical Trial Completed NCT01821157
33 Development and Validation of the Periodontal Aesthetic Perception Scale in Patients With Periodontal Problems Completed NCT03436537
34 The Evaluation of Soft Tissue Wound Healing Following Different Gingivectomy Applications: A Prospective Randomized Clinical Trial Completed NCT03435068
35 Evaluation of Temperature and Healing in Treatment of Gingival Enlargement Using Different Gingivectomy Techniques Completed NCT04016064
36 Induced Gingivitis & Intra-oral Imaging Completed NCT03750955
37 A Longitudinal Study of Childhood Intestinal Bacterial Overgrowth, Vaccine Underperformance, and Malnutrition Completed NCT02745327
38 Relationship Between Small Intestinal Bacterial Overgrowth (SIBO) and Immune System Activation in Childhood Abdominal Pain-Related Functional Gastrointestinal Disorders (FGIDs) Completed NCT02872961
39 Does Colectomy Predispose to Small Intestinal Bacterial (SIBO) and Fungal Overgrowth (SIFO) Completed NCT03216239
40 Clinical Utility of Carbohydrate Breath Tests in Unexplained GI Symptoms Completed NCT03261856
41 Clinical Evaluation of the Residual Antimicrobial Activity of One Test Product Based on the ASTM E2752 Test Method Completed NCT04495920 Early Phase 1 CGB-S-100
42 Is Chronic Abdominal Pain in Pediatric Patients Due to Small Intestinal Bacterial Overgrowth? Completed NCT00619970 xifaxan;placebo
43 Placental miRNA (microRNA) Profile in Fetal Overgrowth Related to Maternal Obesity Study Completed NCT01935076
44 Studies of Salivary Inflammatory Biomarkers During Biofilm Overgrowth: Confirmation of Predictors and Comparative Effects of Sonicare/Elite-Flexcare in Various Stages of Periodontal Disease Completed NCT02187185
45 Validation of Breath Tests in Diagnosing Small Bowel Bacterial Overgrowth Completed NCT00872092
46 Does Small Intestinal Bacterial Overgrowth Contribute to Functional Dyspepsia Completed NCT00956397 Rifaximin;Placebo
47 Use of Serum-derived Immunoglobulin/Protein Isolate (SBI) for the Maintenance of Health in Subjects With Irritable Bowel Syndrome (IBS) Following Successful Treatment of Small Intestinal Bacterial Overgrowth (SIBO) Completed NCT02251483
48 A Clinical Study of the Efficacy of a Formulation of Four Probiotics in Patients With Syndrome of Intestinal Bacterial Overgrowth and Irritable Bowel Syndrome Completed NCT02204891
49 Efficacy of Hydrogen Breath Test in the Patients With Irritable Bowel Syndrome Recruiting NCT02242175
50 Exploring the Use of a Reduced Sulfur Diet to Improve Disease Severity in Ulcerative Colitis: An 8-week Randomized Controlled Trial Recruiting NCT04474561

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, Liver, Endothelial, Prostate, Bone, Spinal Cord, Colon

Publications for Overgrowth Syndrome

Articles related to Overgrowth Syndrome:

(show top 50) (show all 12464)
# Title Authors PMID Year
1
Grap2 cyclin D interacting protein negatively regulates CREB‑binding protein, inhibiting fibroblast‑like synoviocyte growth. 61
33576455 2021
2
Glacier recession alters stream water quality characteristics facilitating bloom formation in the benthic diatom Didymosphenia geminata. 61
33092829 2021
3
The inhibitive effects of proteasome inhibitor MG-132 on pterygium fibroblasts in vitro and the potential key regulators involved. 61
33482188 2021
4
Characterization of vascular stains associated with high flow. 61
32603724 2021
5
Does Youth Baseball Result in Morphologic Changes of the Lateral Elbow? A Prospective MRI Study. 61
33534261 2021
6
How we approach malignant infantile osteopetrosis. 61
33314591 2021
7
Inhibitory effects of cold atmospheric plasma on the growth, virulence factors and HSP90 gene expression in Candida albicans. 61
33485850 2021
8
What's known and what's new in adipose lesions of peripheral nerves? 61
33089450 2021
9
Oral exposure to environmental cyanobacteria toxins: Implications for cancer risk. 61
33465665 2021
10
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. 61
32430359 2021
11
Hemifacial hyperplasia: a case series and review of the literature. 61
32622511 2021
12
Mixed Endometrioid Adenocarcinoma and Müllerian Adenosarcoma of the Uterus and Ovary: Clinicopathologic Characterization With Emphasis on its Distinction From Carcinosarcoma. 61
33565764 2021
13
The FOCCUS study: a prospective evaluation of the frequency, severity and treatable causes of gastrointestinal symptoms during and after chemotherapy. 61
32676853 2021
14
Visible-light photocatalytic activity enhancement of red phosphorus dispersed on the exfoliated kaolin for pollutant degradation and hydrogen evolution. 61
33279699 2021
15
Mechanistic insights into organic carbon-driven water blackening and odorization of urban rivers. 61
33278726 2021
16
Drug Eluting Versus Covered Metal Stents in Malignant Biliary Strictures-Is There a Clinical Benefit?: A Systematic Review and Meta-Analysis. 61
32554989 2021
17
SHANK2 is a frequently amplified oncogene with evolutionarily conserved roles in regulating Hippo signaling. 61
32661924 2021
18
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. 61
33236357 2021
19
Graphene oxide-grafted plasmonic Au@Ag nanoalloys with improved synergistic effects for promoting hot carrier-driven photocatalysis under visible light irradiation. 61
33285524 2021
20
A review on the factors influencing biohydrogen production from lactate: The key to unlocking enhanced dark fermentative processes. 61
33453519 2021
21
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia. 61
33135230 2021
22
Rosacea and the Microbiome: A Systematic Review. 61
33170492 2021
23
Rapid gut dysbiosis induced by stroke exacerbates brain infarction in turn. 61
33558272 2021
24
[Diverticula in the gastrointestinal tract]. 61
33560449 2021
25
The overlap between irritable bowel syndrome and organic gastrointestinal diseases. 61
33189181 2021
26
Asymmetric Overgrowth and a Facial Port Wine Stain. 61
33035571 2021
27
An overview of sarecycline for the treatment of moderate-to-severe acne vulgaris. 61
32924666 2021
28
Candida albicans biofilms and polymicrobial interactions. 61
33482069 2021
29
Small Intestinal Bacterial Overgrowth: Clinical Presentation in Patients with Roux-en-Y Gastric Bypass. 61
33047289 2021
30
Inflammatory lobular hemangioma: A vascular proliferation with a prominent lymphoid component. Review of a series of 19 cases. 61
32779250 2021
31
Genetic characterization of adult primary pleomorphic uterine rhabdomyosarcoma and comparison with uterine carcinosarcoma. 61
33527450 2021
32
Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy. 61
33540913 2021
33
Rosacea with persistent facial erythema and high Demodex density effectively treated with topical ivermectin alone or combined with oral carvedilol. 61
33605018 2021
34
Effects of Proton Pump Inhibitors on the Small Bowel and Stool Microbiomes. 61
33534012 2021
35
Large-for-gestational-age or macrosomia as a classifier for risk of adverse perinatal outcome: a retrospective cross-sectional study. 61
33602007 2021
36
Alternative Treatment Approaches to Small Intestinal Bacterial Overgrowth: A Systematic Review. 61
33074705 2021
37
Clinical efficacy of fecal microbiota transplantation for patients with small intestinal bacterial overgrowth: a randomized, placebo-controlled clinic study. 61
33549047 2021
38
Every Breath Test You Take: Practical Advice on Breath Testing Used to Detect Small Intestinal Bacterial Overgrowth. 61
33428040 2021
39
Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome. 61
33554696 2021
40
Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas. 61
33596140 2021
41
Progression of Cabozantinib-Related Osteonecrosis Mimicking Metastases on Bone Scan. 61
33577198 2021
42
Skin-Related complications of Klippel-Trenaunay Syndrome: a retrospective review of 410 patients. 61
33070382 2021
43
Dysplasia epiphysealis hemimelica of the radial head: a rare case report. 61
33546632 2021
44
Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes. 61
33567274 2021
45
Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children. 61
33557883 2021
46
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights. 61
33538228 2021
47
Pilonidal Sinus Disease: An Analysis of the Factors Affecting Recurrence. 61
33443913 2021
48
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome. 61
32035943 2021
49
Invasive diagnostic and therapeutic measures are unnecessary in patients with symptomatic van Neck-Odelberg disease (ischiopubic synchondrosis): a retrospective single-center study of 21 patients with median follow-up of 5 years. 61
33538214 2021
50
Small Bowel Resection Increases Paracellular Gut Barrier Permeability via Alterations of Tight Junction Complexes Mediated by Intestinal TLR4. 61
33002664 2021

Variations for Overgrowth Syndrome

ClinVar genetic disease variations for Overgrowth Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD8 NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) SNV Likely pathogenic 870572 14:21884051-21884051 14:21415892-21415892
2 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) SNV Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
3 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
4 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>A SNV 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 overgrowth syndrome
10 256668 9 95600000 101600000 Deletion overgrowth syndrome
11 256669 9 95600000 101600000 Deletion overgrowth syndrome
12 256670 9 95600000 101600000 Deletion overgrowth syndrome
13 256671 9 95600000 101600000 Deletion 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 9.85 SETD2 NSD1 DNMT3A CHD8
2 cell migration GO:0016477 9.81 PIK3CA PDGFRB GPC3 APC2
3 ossification GO:0001503 9.71 NPR2 NPPC IGF2
4 histone lysine methylation GO:0034968 9.57 SETD2 NSD1
5 cGMP-mediated signaling GO:0019934 9.56 NPR2 NPPC
6 regulation of gene expression by genetic imprinting GO:0006349 9.52 IGF2 DNMT3A
7 cGMP biosynthetic process GO:0006182 9.49 NPR2 NPPC
8 receptor guanylyl cyclase signaling pathway GO:0007168 9.48 NPR2 NPPC
9 negative regulation of fibroblast apoptotic process GO:2000270 9.46 PIK3CA CHD8
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 for Overgrowth Syndrome

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
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