MCID: OVR082
MIFTS: 42

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 weaver syndrome and sotos syndrome 1. An important gene associated with Overgrowth Syndrome is LOC100507346 (Uncharacterized LOC100507346). The drugs Ciprofloxacin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and endothelial.

Wikipedia : 73 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 883)
# Related Disease Score Top Affiliating Genes
1 weaver syndrome 31.7 NSD1 CHD8
2 sotos syndrome 1 31.2 NSD1 CHD8
3 hydrocephalus 29.4 PTCH1 PDGFRB LOC100507346
4 precocious puberty 29.1 PTCH1 LOC100507346
5 coloboma of macula 28.8 PTCH1 FIBP CHD8
6 basal cell nevus syndrome 28.7 PTCH1 LOC100507346
7 kosaki overgrowth syndrome 11.6
8 dnmt3a overgrowth syndrome 11.4
9 tatton-brown-rahman syndrome 11.4
10 gingival overgrowth 11.4
11 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 11.4
12 global developmental delay, lung cysts, overgrowth, and wilms tumor 11.4
13 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.4
14 simpson-golabi-behmel syndrome 11.3
15 sotos syndrome 2 11.2
16 macrocephaly, dysmorphic facies, and psychomotor retardation 11.2
17 acromegaloid features, overgrowth, cleft palate, and hernia 11.2
18 vertebral body fusion overgrowth 11.1
19 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 11.1
20 blind loop syndrome 11.1
21 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.1
22 fibromatosis, gingival, 1 11.1
23 pik3ca-related overgrowth syndrome 11.0
24 perlman syndrome 11.0
25 luscan-lumish 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 beckwith-wiedemann syndrome 10.9
35 nevus, epidermal 10.9
36 capillary malformation-arteriovenous malformation 1 10.9
37 parkes weber syndrome 10.9
38 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
39 epiphyseal chondrodysplasia, miura type 10.9
40 tenorio syndrome 10.9
41 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.9
42 loeys-dietz syndrome 5 10.9
43 developmental delay with variable intellectual impairment and behavioral abnormalities 10.9
44 imagawa-matsumoto syndrome 10.9
45 eed-related overgrowth 10.9
46 overgrowth-macrocephaly-facial dysmorphism syndrome 10.9
47 hyperostosis cranialis interna 10.9
48 amelogenesis imperfecta, type ig 10.9
49 van buchem disease 10.9
50 laryngoonychocutaneous syndrome 10.9

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



Diseases related to Overgrowth Syndrome

Symptoms & Phenotypes for Overgrowth Syndrome

Drugs & Therapeutics for Overgrowth Syndrome

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

(show top 50) (show all 118)
# 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 Antiparasitic Agents Phase 4
6 Antiprotozoal Agents Phase 4
7
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
8
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
9
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
10
Rifaximin Approved, Investigational Phase 3 80621-81-4 6436173 46783403
11
tannic acid Approved Phase 2, Phase 3 1401-55-4
12
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
13
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
14
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6
15
Parathyroid hormone Approved, Investigational Phase 2, Phase 3 9002-64-6
16 Orange Approved Phase 2, Phase 3
17
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
20 Anti-Bacterial Agents Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22 Anti-Infective Agents Phase 3
23 Vitamin B9 Phase 2, Phase 3
24 Nutrients Phase 2, Phase 3
25 Trace Elements Phase 2, Phase 3
26 Hematinics Phase 2, Phase 3
27 Micronutrients Phase 2, Phase 3
28 Folate Phase 2, Phase 3
29 Vitamin B Complex Phase 2, Phase 3
30 Vitamins Phase 2, Phase 3
31 Liver Extracts Phase 3
32 Gastrointestinal Agents Phase 3
33 glucocorticoids Phase 2, Phase 3
34 Iron Supplement Phase 2, Phase 3
35 Hormone Antagonists Phase 2, Phase 3
36 Antibodies Phase 2, Phase 3
37 Hormones Phase 2, Phase 3
38 pancreatin Phase 2, Phase 3
39 Antineoplastic Agents, Hormonal Phase 2, Phase 3
40 Immunoglobulins Phase 2, Phase 3
41 Anti-Inflammatory Agents Phase 2, Phase 3
42 Estrogens Phase 2, Phase 3
43 Calciferol Phase 2, Phase 3
44 Progestins Phase 2, Phase 3
45 Autoantibodies Phase 2, Phase 3
46
Ceftriaxone Approved Phase 2 73384-59-5 5479530 5361919
47
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
50 Cola Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Primary Prophylaxis for Spontaneous Bacterial Peritonitis in Decompensated Chronic Liver Disease With Small Bowel Bacterial Overgrowth: A Randomised Trial Recruiting NCT04775329 Phase 2, Phase 3 Rifaximin
10 Low Dose Prednisone Therapy in Women With Recurrent Pregnancy Loss Not yet recruiting NCT04558268 Phase 2, Phase 3 Prednisone;Progesterone
11 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
12 Pharmacokinetics of Antimicrobials and Carriage of Antimicrobial Resistance Amongst Hospitalised Children With Severe Acute Malnutrition Unknown status NCT02746276 Phase 2 Ceftriaxone;Metronidazole
13 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)
14 Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth Completed NCT02443818 Phase 2 Sirolimus
15 Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
16 Rifaximin in the Treatment of Small Intestinal Bacterial Overgrowth and IBS: Double Blind Randomized Controlled Trial (Multicenter Trial) Completed NCT00259155 Phase 2 Rifaximin
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 A Phase 1/2 Study of ARQ 092 (Miransertib) in Subjects With PIK3CA-related Overgrowth Spectrum (PROS) and Proteus Syndrome (PS) (MOSAIC) Active, not recruiting NCT03094832 Phase 1, Phase 2 Miransertib
19 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
20 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)
21 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
22 Bacterial Overgrowth Associated With Chronic Multisymptom Illness Complex Unknown status NCT00956150 Phase 1 Rifaximin;Placebo
23 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
24 Study on Clinical Features, Intestinal Flora and Standardized Treatment in Male Elderly With Small Intestinal Bacterial Overgrowth Unknown status NCT03659175
25 The Clinical Application of Diode Laser in Gingival Enlargement Related to Orthodontics Unknown status NCT01286298
26 Efficacy of Hydrogen Breath Test in the Patients With Irritable Bowel Syndrome Unknown status NCT02242175
27 The Role of Cholangioscopy and Biliary Radio Frequency Ablation in the Management of Occluded Biliary Self-expanding Metal Stent. Unknown status NCT03133026
28 Vascular Malformations and Abnormalities of Growth Completed NCT01105676
29 Retrospective Analysis of Treatment Outcomes in Patients With Bacterial Overgrowth Syndrome Diagnosed by D-Xylose Breath Testing Completed NCT01324895
30 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026
31 Open-flap Versus Flapless Esthetic Crown Lengthening: 12-month Clinical Outcomes of a Randomized Controlled Clinical Trial Completed NCT01821157
32 Scalpel Versus Laser Gingivectomy in the Management of Periodontal Health During Orthodontic Treatment: a Randomized Controlled Clinical Trial Completed NCT03514316
33 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
34 The Evaluation of Soft Tissue Wound Healing Following Different Gingivectomy Applications: A Prospective Randomized Clinical Trial Completed NCT03435068
35 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
36 Evaluation of the Effects of PRF, CGF and AFG Application on Wound Healing Following Gingivectomy and Gingivoplasty Operations: a Randomized Controlled Clinical Trial Completed NCT04805463
37 Development and Validation of the Periodontal Aesthetic Perception Scale in Patients With Periodontal Problems Completed NCT03436537
38 Evaluation of Temperature and Healing in Treatment of Gingival Enlargement Using Different Gingivectomy Techniques Completed NCT04016064
39 Induced Gingivitis & Intra-oral Imaging Completed NCT03750955
40 A Longitudinal Study of Childhood Intestinal Bacterial Overgrowth, Vaccine Underperformance, and Malnutrition Completed NCT02745327
41 Relationship Between Small Intestinal Bacterial Overgrowth (SIBO) and Immune System Activation in Childhood Abdominal Pain-Related Functional Gastrointestinal Disorders (FGIDs) Completed NCT02872961
42 Clinical Utility of Carbohydrate Breath Tests in Unexplained GI Symptoms Completed NCT03261856
43 Does Colectomy Predispose to Small Intestinal Bacterial (SIBO) and Fungal Overgrowth (SIFO) Completed NCT03216239
44 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
45 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
46 Is Chronic Abdominal Pain in Pediatric Patients Due to Small Intestinal Bacterial Overgrowth? Completed NCT00619970 xifaxan;placebo
47 Placental miRNA (microRNA) Profile in Fetal Overgrowth Related to Maternal Obesity Study Completed NCT01935076
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 Validation of Breath Tests in Diagnosing Small Bowel Bacterial Overgrowth Completed NCT00872092
50 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

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 12593)
# Title Authors PMID Year
1
Overgrowth of Single Crystal Diamond Using Defect-Selective Etching and Epitaxy Technique in Chemical Vapor Deposition. 61
33714336 2021
2
The cytotoxic effect of Clostridioides difficile pore-forming toxin CDTb. 61
33689753 2021
3
Performance and operational strategy of simultaneous nitrification, denitrification, and phosphorus removal system under the condition of low organic loading rate in wet weather. 61
33388499 2021
4
[Functional Exams in the gastroenterology - new developments and tips for the common practice]. 61
33780988 2021
5
Fetal overgrowth in pregnancies complicated by diabetes: validation of a predictive index in an external cohort. 61
32897399 2021
6
Effect of an anti-inflammatory pomegranate otic treatment on the clinical evolution and microbiota profile of dogs with otitis externa. 61
33399257 2021
7
Lactose Sensitivity and Lactose Malabsorption: The 2 Faces of Lactose Intolerance. 61
33361550 2021
8
[The diagnostic value of hydrogen sulfide breath test for small intestinal bacterial overgrowth]. 61
33765706 2021
9
Gingival overgrowth induced by anticonvulsant drugs: A cross-sectional study on epileptic patients. 61
33368283 2021
10
Antioxidants protect against gingival overgrowth induced by cyclosporine A. 61
33448057 2021
11
Genes and phenotypes in vascular malformations. 61
33368487 2021
12
Aspartylglucosaminuria: Clinical Presentation and Potential Therapies. 61
33439067 2021
13
The Use of Fecal Calprotectin Testing in Paediatric Disorders: A Position Paper of the European Society for Paediatric Gastroenterology and Nutrition Gastroenterology Committee. 61
33716293 2021
14
Small intestinal bacterial overgrowth and non-alcoholic fatty liver disease diagnosed by transient elastography and liver biopsy. 61
33406286 2021
15
Digital Quantification of Melanocytic Density in Resection Margins of Lentigo Maligna Using SOX10 Versus Hematoxylin-Eosin Staining. 61
32675472 2021
16
Multimodal imaging reveals a unique autofluorescence signature of Randall's plaque. 61
33026465 2021
17
The Effect of Vitamin D Deficiency on Overgrowth of Uterine Fibroids: A Blinded Randomized Clinical Trial. 61
33687161 2021
18
Grap2 cyclin D interacting protein negatively regulates CREB‑binding protein, inhibiting fibroblast‑like synoviocyte growth. 61
33576455 2021
19
Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia. 61
33159599 2021
20
Early hydrogen excretion peaks during breath tests. Small intestinal bacterial overgrowth or accelerated transit? 61
32868214 2021
21
Water-Salt Oligomers Enable Supersoluble Electrolytes for High-Performance Aqueous Batteries. 61
33634517 2021
22
Key Elements of Gingival Epithelial Homeostasis upon Bacterial Interaction. 61
33203318 2021
23
Zeolite-Based Memristive Synapse with Ultralow Sub-10-fJ Energy Consumption for Neuromorphic Computation. 61
33738968 2021
24
The inhibitive effects of proteasome inhibitor MG-132 on pterygium fibroblasts in vitro and the potential key regulators involved. 61
33482188 2021
25
Glacier recession alters stream water quality characteristics facilitating bloom formation in the benthic diatom Didymosphenia geminata. 61
33092829 2021
26
Rosacea with persistent facial erythema and high Demodex density effectively treated with topical ivermectin alone or combined with oral carvedilol. 61
33605018 2021
27
Assessment of small intestinal bacterial overgrowth in chronic pancreatitis patients using jejunal aspirate culture and glucose hydrogen breath test. 61
33730978 2021
28
Role of vitamin D in treatment of keloid. 61
33721390 2021
29
Temporary Proximal Tibial Epiphysiodesis for Correction of Leg Length Discrepancy in Children-Should Proximal Fibular Epiphysiodesis Be Performed Concomitantly? 61
33802874 2021
30
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. 61
33749980 2021
31
Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue. 61
32500425 2021
32
The Roles of Lactobacillus Acidophilus and Pectin in Preventing Postoperative Sepsis and Intestinal Adaptation in a Rat Model of Short Bowel Syndrome. 61
33719025 2021
33
Mixed Endometrioid Adenocarcinoma and Müllerian Adenosarcoma of the Uterus and Ovary: Clinicopathologic Characterization With Emphasis on its Distinction From Carcinosarcoma. 61
33565764 2021
34
Pulmonary Pathology of COVID-19 Following 8 Weeks to 4 Months of Severe Disease: A Report of Three Cases, Including One With Bilateral Lung Transplantation. 61
33316056 2021
35
The FOCCUS study: a prospective evaluation of the frequency, severity and treatable causes of gastrointestinal symptoms during and after chemotherapy. 61
32676853 2021
36
Clostridium difficile: Diagnosis and the Consequence of Over Diagnosis. 61
33770398 2021
37
Bacterial metabolites trimethylamine N-oxide and butyrate as surrogates of small intestinal bacterial overgrowth in patients with a recent decompensated heart failure. 61
33731747 2021
38
Association of Small Intestinal Bacterial Overgrowth With Heart Failure and Its Prediction for Short-Term Outcomes. 61
33728933 2021
39
Treatment of Gestational Diabetes Mellitus and Offspring Early Childhood Growth. 61
33057663 2021
40
Effects of Bovine Colostrum with or without Egg on In Vitro Bacterial-Induced Intestinal Damage with Relevance for SIBO and Infectious Diarrhea. 61
33809940 2021
41
Protein carbonylation associated with nickel liberation in orthodontic gingival overgrowth. 61
33721694 2021
42
Depicting the composition of gut microbiota in children with tic disorders: an exploratory study. 61
33738808 2021
43
Malignant phyllodes tumour of the breast mimicking endometriosis. 61
33782741 2021
44
Thoracic osteophyte as a cause of symptomatic greater splanchnic nerve compression. Case report. 61
33771615 2021
45
Primary Fallopian Tube Mullerian Adenosarcoma With Sarcomatous Overgrowth and a Previously Unreported MEIS1-NCOA2 Gene Fusion. 61
33770059 2021
46
How we approach malignant infantile osteopetrosis. 61
33314591 2021
47
Inhibitory effects of cold atmospheric plasma on the growth, virulence factors and HSP90 gene expression in Candida albicans. 61
33485850 2021
48
What's known and what's new in adipose lesions of peripheral nerves? 61
33089450 2021
49
Relationship Between Ano-vaginal Distance and Bacterial Vaginosis (Cross-sectional Study). 61
33675029 2021
50
Cerebellar dysplasia related to PIK3CA mutation: a three-case series. 61
32901329 2021

Variations for Overgrowth Syndrome

ClinVar genetic disease variations for Overgrowth Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) Deletion Pathogenic 997831 GRCh37: 9:98229690-98229693
GRCh38: 9:95467408-95467411
2 CHD8 NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) SNV Likely pathogenic 870572 GRCh37: 14:21884051-21884051
GRCh38: 14:21415892-21415892
3 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) SNV Likely pathogenic 189359 rs786204849 GRCh37: 11:65652652-65652652
GRCh38: 11:65885181-65885181
4 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely pathogenic 159398 rs587784177 GRCh37: 5:176710828-176710828
GRCh38: 5:177283827-177283827
5 overlap with 38 genes GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Likely pathogenic 997081 GRCh37: 4:179554876-190916678
GRCh38:
6 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>A SNV Uncertain significance 374062 rs200627037 GRCh37: 3:178921589-178921589
GRCh38: 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

GO Terms for Overgrowth Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.16 PTCH1 PDGFRB
2 response to estradiol GO:0032355 8.96 PTCH1 PDGFRB
3 response to retinoic acid GO:0032526 8.62 PTCH1 PDGFRB

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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