MCID: UMB002
MIFTS: 46

Umbilical Hernia

Categories: Gastrointestinal diseases

Aliases & Classifications for Umbilical Hernia

Summaries for Umbilical Hernia

Disease Ontology : 12 A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.

MalaCards based summary : Umbilical Hernia, also known as hernia, umbilical, is related to diabetes mellitus, 6q24-related transient neonatal and beckwith-wiedemann syndrome. An important gene associated with Umbilical Hernia is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways is Endochondral Ossification. The drugs Furosemide and Propofol have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and skin, and related phenotypes are Reduced mammosphere formation and craniofacial

Wikipedia : 74 An umbilical hernia is a health condition where the abdominal wall behind the navel is damaged. It may... more...

Related Diseases for Umbilical Hernia

Diseases related to Umbilical Hernia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 32.3 PLAGL1 HYMAI
2 beckwith-wiedemann syndrome 31.2 PLAGL1 KCNQ1OT1 IGF2 HYMAI H19 DYNC1I2
3 omphalocele 30.2 PLOD1 KCNQ1OT1 IGF2 GLI3 CDKN1C
4 pica disease 30.0 PTER PES1 ADAMTS2
5 hemihyperplasia, isolated 30.0 KCNQ1OT1 IGF2 H19 CDKN1C
6 smith-kingsmore syndrome 12.2
7 shprintzen-goldberg craniosynostosis syndrome 11.7
8 mucopolysaccharidosis, type ii 11.6
9 hurler-scheie syndrome 11.6
10 scheie syndrome 11.6
11 weaver syndrome 11.5
12 carpenter syndrome 1 11.4
13 mucopolysaccharidosis, type vi 11.4
14 chromosome 6q11-q14 deletion syndrome 11.4
15 carpenter syndrome 2 11.4
16 cohen-gibson syndrome 11.4
17 simpson-golabi-behmel syndrome 11.4
18 spondylocostal dysostosis 5 11.3
19 acrocallosal syndrome 11.3
20 hypothyroidism, congenital, nongoitrous, 2 11.3
21 fraser syndrome 1 11.3
22 ehlers-danlos syndrome, dermatosparaxis type 11.3
23 gapo syndrome 11.3
24 3mc syndrome 3 11.3
25 manitoba oculotrichoanal syndrome 11.3
26 mucolipidosis ii alpha/beta 11.3
27 mucopolysaccharidosis, type vii 11.3
28 3mc syndrome 1 11.3
29 3mc syndrome 2 11.3
30 mental retardation, x-linked, syndromic, martin-probst type 11.3
31 aarskog-scott syndrome 11.3
32 achondrogenesis, type ib 11.3
33 nicolaides-baraitser syndrome 11.3
34 fontaine progeroid syndrome 11.3
35 tatton-brown-rahman syndrome 11.3
36 hyperekplexia 4 11.3
37 3mc syndrome 11.3
38 hennekam syndrome 11.3
39 achondrogenesis 11.3
40 mucopolysaccharidosis iii 11.3
41 mucopolysaccharidosis iv 11.3
42 cutis laxa 11.3
43 bamforth syndrome 11.3
44 central congenital hypothyroidism 11.3
45 progeroid syndrome petty type 11.3
46 liver cirrhosis 10.6
47 inguinal hernia 10.5
48 silver-russell syndrome due to a point mutation 10.4 IGF2 CDKN1C
49 silver-russell syndrome due to 11p15 microduplication 10.4 IGF2 H19
50 silver-russell syndrome due to an imprinting defect of 11p15 10.4 IGF2 H19

Graphical network of the top 20 diseases related to Umbilical Hernia:



Diseases related to Umbilical Hernia

Symptoms & Phenotypes for Umbilical Hernia

GenomeRNAi Phenotypes related to Umbilical Hernia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ABCC8 DNMT3A H19 IGF2 MTOR PES1

MGI Mouse Phenotypes related to Umbilical Hernia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.03 ADAMTS2 AGPAT2 GLI3 IDUA IGF2 MEGF8
2 embryo MP:0005380 10.01 DNMT3A GLI3 IGF2 MEGF8 MTOR PES1
3 integument MP:0010771 9.97 ADAMTS2 AGPAT2 GLI3 IDUA IGF2 MEGF8
4 limbs/digits/tail MP:0005371 9.87 AGPAT2 GLI3 IDUA IGF2 MEGF8 PITX2
5 muscle MP:0005369 9.8 DNMT3A IDUA IGF2 MEGF8 MTOR PITX2
6 no phenotypic analysis MP:0003012 9.7 ABCC8 GLI3 IGF2 MTOR PITX2 PLAGL1
7 respiratory system MP:0005388 9.5 ADAMTS2 GLI3 IGF2 MEGF8 MTOR PITX2
8 skeleton MP:0005390 9.36 ADAMTS2 AGPAT2 DNMT3A GLI3 IDUA IGF2

Drugs & Therapeutics for Umbilical Hernia

Drugs for Umbilical Hernia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9 Anesthetics, General Phase 4
10 Sodium Potassium Chloride Symporter Inhibitors Phase 4
11 Pharmaceutical Solutions Phase 4
12 diuretics Phase 4
13 Hypnotics and Sedatives Phase 4
14 Anesthetics, Intravenous Phase 4
15 Anesthetics Phase 4
16 Anesthetics, Local Phase 4
17 BB 1101 Phase 4
18
Ibuprofen Approved Phase 3 15687-27-1 3672
19 Liver Extracts Phase 3
20 Analgesics, Non-Narcotic Phase 3
21 Cyclooxygenase Inhibitors Phase 3
22 Antirheumatic Agents Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Anti-Inflammatory Agents, Non-Steroidal Phase 3
25 Narcotics Phase 3
26
Morphine Approved, Investigational 57-27-2 5288826
27
Acetaminophen Approved 103-90-2 1983
28
Chloroprocaine Approved 133-16-4 8612
29
Prilocaine Approved 721-50-6 4906
30
Sufentanil Approved, Investigational 56030-54-7 41693
31
Procaine Approved, Investigational, Vet_approved 59-46-1 4914
32
Sodium oxybate Approved 502-85-2 5360545
33 Gentamicins
34 Anti-Infective Agents
35 Ferrosoferric Oxide
36 Antipyretics
37 Fibrin Tissue Adhesive
38 Vaccines
39 Analgesics
40 Anti-Bacterial Agents
41 Trace Elements
42 Micronutrients
43 Antibiotics, Antitubercular
44 Fluorides
45 Tea

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 A Randomized Comparison of Ultrasound Guided Bilateral Rectus Sheath Block and Local Anesthetic Infiltration for Postoperative Pain Control in Children With Acute Appendicitis Completed NCT02352519 Phase 4
2 The Use of Human Albumin for the Treatment of Ascites in Patients With Hepatic Cirrhosis: a Multicenter, Open-label Randomized Clinical Trial Completed NCT01288794 Phase 4 Diuretics plus human albumin;Diuretics (standard medical treatment)
3 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
4 Liposomal Bupivacaine Versus Bupivacaine for Interscalene Nerve Block for Postoperative Pain Control in Shoulder Arthroplasty/Arthroscopy: a Prospective Randomized Controlled Trial Not yet recruiting NCT04180943 Phase 4 interscalene nerve block
5 Prospective Randomized Multicenter Trial Comparing Laparoscopic (IPOM) vs. Sublay Mesh Plasty for Umbilical Hernia in Adults Terminated NCT01201564 Phase 4
6 Conservative Treatment Versus Elective Repair of the Umbilical Hernia in Patients With Ascites and Liver Cirrhosis, a Randomized Controlled Trial Unknown status NCT01421550 Phase 3
7 Does Preoperative Caldolor Decrease the Requirement for Postoperative Narcotics in Patients Undergoing Laparoscopic or Open Inguinal and/or Umbilical Hernia Repair? A Randomized, Double-Blind, Prospective Trial Unknown status NCT01297829 Phase 3 Intravenous Ibuprofen
8 The North American Study for the Treatment of Refractory Ascites (NASTRA) Clinical Trial Completed NCT00006166 Phase 3
9 Umbilical vs Paraumbilical Trocar Placement in Patients Undergoing Elective Laparoscopic Cholecystectomy Not yet recruiting NCT04347642 Phase 3
10 A Prospective, Double-blinded, Randomized Comparison of Caudal Analgesia Versus Ultrasound Guided Rectus Sheath Blocks for Umbilical Herniorrhaphy in the Pediatric Population Terminated NCT01394523 Phase 2, Phase 3 Bupivacaine
11 Transabdominal Plane (TAP) Blocks in Ventral Hernia Repair Completed NCT02007096 Phase 2 Transabdominal Plane Block;Non Transabdominal Plane Block
12 A Phase II, Single-dose, Open-label Study to Investigate the Feasibility and Efficacy of the CollaRx® Bupivacaine Implant (200 mg Bupivacaine Hydrochloride) in Men After Laparoscopic Inguinal or Umbilical Herniorrhaphy Completed NCT01224145 Phase 2 4, 5x5cm bupivacaine collagen sponges
13 Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03526588 Phase 1
14 Prospective Randomized Trial to Study the Effectiveness of an Intraperitoneal Mesh With an Overlap of 3cm Versus a Rives-Stoppa Repair With an Overlap of 6cm With Patients With a Hernia Umbilicalis Unknown status NCT00323141
15 Natural Orifice Translumenal Endoscopic Surgery (NOTES): Laparoscopic Assisted Transvaginal Ventral Hernia Repair Unknown status NCT01398215
16 A Prospective, Multicenter, Randomized Trial Comparing Laparoscopy VS Conventional Mesh Repair of Incisional and Umbilical Hernia Unknown status NCT00970515
17 The Flemish Umbilical Nitinol Mesh Trial, a Multicenter Randomized Controlled Trial. Unknown status NCT01543789
18 The Impact of Medical Clowning on Pain and Stress Level in Pediatric Patients Undergoing Hernia Repair Surgery LAUGH Study Unknown status NCT01622218
19 Case-control Study of Mesh-infection After a Size Tailored Hernia Repair With C-Qur V-Patch Unknown status NCT01761708
20 Recurrence Rate After Primary and Secondary Ventral Hernia Repair Using Long-term Resorbable Versus Non-resorbable Large Pore Synthetic Mesh. Unknown status NCT01622725
21 Randomized Clinical Trial Comparing Open Preperitoneal Mesh, Retromuscular Mesh and Suture Repair for Abdominal Wall Hernias Less Than 3 cm Diameter Unknown status NCT03255239
22 Nationwide Prospective Study of Surgical Risk Factors for Poor Outcome After Epigastric and Umbilical Hernia Repair Completed NCT01665859
23 A Randomized-Double Blinded Trial Comparing the Analgesic Efficacy and Side Effects of Rectus Sheath Block vs. Infiltration of Surgical Site for Post Operative Pain Control After Umbilical Hernia Repair Surgery Completed NCT00578136 Bupivacaine
24 Prospective Observational Cohort Study of Robot-assisted Laparoscopic Hernia Umbilical Hernia Repair (rTARUP) Completed NCT02975414
25 Mesh Versus Suture Repair for Umbilical Hernias: a Double Blinded, Randomised Controlled Clinical Trial Completed NCT00789230
26 Watchful Waiting of Incisional Hernias: A Prospective Trial Completed NCT00351455
27 Percutaneous Rectus Sheath Block Versus Intra-operative Rectus Sheath Block for Pediatric Umbilical Hernia Repair: A Prospective, Randomized Study Completed NCT02341144 Ropivacaine
28 Effect of Reoperation for Recurrence After Open Surgery for Small Umbilical Hernia With Sutured Mesh or Plastic Surgery. A National Hernia Database Study. Completed NCT01607801
29 Professor and HOD Department of Surgery DIMC Completed NCT04164524 Gentamycin
30 Morphological Imaging of Meshes in Underlay Position After Treatment of Primary Umbilical Hernias: a Randomised Controlled Trial Completed NCT03200405
31 High Incidence of Chronic Complaints and Recurrence 5 Years After Simple Sutured Umbilical Hernia Repair Completed NCT01741740
32 Multicenter Prospective Clinical Registry To Evaluate The Safety And Efficacy Of A Self-Expanding Multi-Layered Partially Resorbable Absorbable Lightweight Polypropylene Mesh Device (Proceed Ventral Patch® Or Pvp®) For The Treatment Of Small And Medium Umbilical Ventral Hernias Completed NCT01307696
33 Ultrasound-guided Rectus Sheath Block for Post-operative Pain Control Following Umbilical Hernia Repair Completed NCT00836134
34 Postoperative Pain After Pediatric Umbilical Hernia Repair: a Randomized Clinical Trial of Ultrasound-guided Bilateral Rectus Sheath Blocks Versus Local Anesthetic Infiltration Completed NCT01015053
35 Multicentric Evaluation of the Proceed Ventral Patch for Umbilical and Small Primary Ventral Hernias Less Than 3cm Diameter With One Year Follow-up Completed NCT01183325
36 Quality of Life After Laparoscopic Inguinal- Incisional- and Umbilical Herniotomy. Completed NCT01289093
37 No Need for Neuromuscular Blockade in Day Case Standardised Laparoscopic Surgery. A Consecutive Retrospective Study Completed NCT02782832
38 A Randomized Controlled Trial Comparing Combination Therapy of Acetaminophen Plus Ibuprofen Versus Tylenol #3 for the Treatment of Pain After Outpatient Surgery Completed NCT00245375 Tylenol #3;Combination Tylenol and Ibuprofen
39 Intrathecal 60mg Prilocaine, Hyperbaric 40mg 9-chloroprocaine and 10.5mg Bupivacaine Each With Added Sufentanil (2µg) for Elective Ambulatory Umbilical and Unilateral Inguinal Herniorrhaphy Completed NCT02813382 Bupivacaine;Prilocaine;Chloroprocaine
40 A Prospective, Controlled, Randomized, Patient and Evaluator Blinded Study to Evaluate Pain and Recovery in Patients Undergoing Laparoscopic Umbilical Hernia Repair by Fixing the Mesh With Tisseel Versus Tackers Completed NCT00842842
41 Trans-incisional Rectus Sheath Block Versus Laparoscopic Guided Rectus Sheath Block for Pediatric Single Incision Laparoscopic Cholecystectomy: A Prospective, Randomized Study Completed NCT02494336 Ropivacaine
42 Abdominal Hernia in Cirrhotic Patients: Surgery or Conservative Treatment? Completed NCT02787772
43 Risk of Umbilical Trocar-site Hernia After SILC Versus Conventional Laparoscopic Cholecystectomy Completed NCT01740973
44 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
45 Animal-assisted Therapy in Pediatric Surgery: Cardiovascular, Neurological and Endocrinological Responses to Stress and Pain in the Immediate Post-operative Period Completed NCT02284100
46 Randomized Double-blind Controlled Multicenter Trial Comparing Suture and Mesh Repair in Small Umbilical Hernias in Adults Recruiting NCT04231071
47 Anxiety and Chronic Postsurgical Pain Following Ambulatory Surgery in Children Recruiting NCT04206956
48 Prevalence of Sarcopenia and Undernutrition in Patients With Cirrhosis and Abdominal Hernia Recruiting NCT03458845
49 A Prospective and Randomized Comparison of Ultrasound-guided Transversus Abdominis Plane Versus Rectus Sheath Blocks as a Primary Anesthetic for Abdominal Wall Surgery in Adults. Recruiting NCT03074240
50 Local Repair of Umbilical Hernia in Cirrhotic Patient Using Intraperitoneal Onlay Mesh Technique Recruiting NCT04088253

Search NIH Clinical Center for Umbilical Hernia

Cochrane evidence based reviews: hernia, umbilical

Genetic Tests for Umbilical Hernia

Genetic tests related to Umbilical Hernia:

# Genetic test Affiliating Genes
1 Umbilical Hernia 29

Anatomical Context for Umbilical Hernia

MalaCards organs/tissues related to Umbilical Hernia:

40
Liver, Small Intestine, Skin, Colon, Lung, Uterus, Heart

Publications for Umbilical Hernia

Articles related to Umbilical Hernia:

(show top 50) (show all 1555)
# Title Authors PMID Year
1
Are Children Scheduled for Ventilation Tubes Insertion Overweight? A Cohort of Israeli Children. 61
31994406 2020
2
Efficacy of panniculectomy-combined surgery in superobese patients with endometrial cancer: A case report and literature review. 61
32534418 2020
3
Health care disparity exists among those undergoing emergent hernia repairs in New York State. 61
32495046 2020
4
Letter to the Editor: Case of Appendix Incarcerated in an Umbilical Hernia. 61
32559399 2020
5
Mesh versus suture in elective repair of umbilical hernia: systematic review and meta-analysis. 61
32250556 2020
6
Ultrasound-guided bilateral rectus sheath block with and without dexmedetomidine in pediatric umbilical hernia repairs: a retrospective interrupted time series analysis. 61
32522861 2020
7
Watchful waiting is an appropriate option for peritoneal dialysis candidates with an asymptomatic ventral hernia. 61
32556634 2020
8
Mortality After Extrahepatic Gastrointestinal and Abdominal Wall Surgery in Patients With Alcoholic Liver Disease: A Systematic Review and Meta-Analysis. 61
32558895 2020
9
Closure of the fascial defect during laparoscopic umbilical hernia repair: a randomized clinical trial. 61
32339280 2020
10
Rare case of spontaneous sub-umbilical endometriosis within an umbilical hernia in a 39-year-old female. 61
31338940 2020
11
A Combined Open and Laparoscopic Technique for the Treatment of Umbilical Hernia: Retrospective Review of a Consecutive Series of Patients. 61
32227329 2020
12
Umbilical Hernia Containing Appendicitis. 61
32542130 2020
13
Single-port laparoscopic percutaneous closure of the internal ring for scarless repair of inguinal hernias in girls. 61
32427037 2020
14
Individualized treatment of pediatric inguinal hernia reduces adolescent recurrence rate: an analysis of 3006 cases. 61
31858238 2020
15
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
16
Robotic Inguinal Hernia Repair. 61
32432334 2020
17
Hernia incidence following a randomized clinical trial of single-incision versus multi-port laparoscopic colectomy. 61
32435960 2020
18
Postnatal effects of gestational and lactational gavage exposure to boric acid in the developing Sprague Dawley rat. 61
32392305 2020
19
Giant ventral hernia simultaneously containing the spleen, a portion of the pancreas and the left hepatic lobe: A case report. 61
32432146 2020
20
Senior surgical resident autonomy and teaching assistant cases: A prospective observational study. 61
32139104 2020
21
Umbilical shapes predict future protrusion in pediatric umbilical hernias. 61
32359028 2020
22
Oh, My Gauze !!!- A rare case report of laparoscopic removal of an incidentally discovered gossypiboma during laparoscopic cholecystectomy. 61
32513591 2020
23
Is there an advantage to laparoscopy over open repair of primary umbilical hernias in obese patients? An analysis of the Americas Hernia Society Quality Collaborative (AHSQC). 61
32447534 2020
24
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study. 61
32349794 2020
25
Diabetes in day case general and vascular surgery: A multicentre regional audit. 61
31884722 2020
26
The power of level-1 evidence in umbilical hernia repair: mesh repair is supported by strong evidence. 61
32253521 2020
27
Comparing apples and oranges will not guide treatment the right way in umbilical hernia repair: use either level-1 evidence or guidelines. 61
32323038 2020
28
Intraperitoneal onlay mesh repair (IPOM) plus technique using a hybrid procedure of open laparotomy and laparoscopic approach (hybrid IPOM plus) for incarceration of umbilical hernia in a severely obese patient: a case report. 61
32337655 2020
29
[Protruding omentum with umbilical fluid leakage in a patient with liver cirrhosis]. 61
32395961 2020
30
Is mesh always necessary in every small umbilical hernia repair? Comparison of standardized primary sutured versus patch repair: retrospective cohort study. 61
32189143 2020
31
Current practice patterns for initial umbilical hernia repair in the United States. 61
32162111 2020
32
Stemming the Tide of Opioid Addiction-Dramatic Reductions in Postoperative Opioid Requirements Through Preoperative Education and a Standardized Analgesic Regimen. 61
31621868 2020
33
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. 61
31972898 2020
34
What are the Specifics of Abdominal Wall Surgery in Cirrhotic Patients. 61
32369717 2020
35
Long-term patient-reported outcomes and quality of the evidence in ventral hernia mesh repair: a systematic review. 61
32152807 2020
36
Regionalization of emergency general surgery operations: A simulation study. 61
31804419 2020
37
Telephone Follow-Up for Emergency General Surgery Procedures: Safety and Implication for Health Resource Use. 61
31654733 2020
38
Body Wall Defects: Gastroschisis and Omphalocoele in Pigs (Sus scrofa domesticus). 61
32138845 2020
39
Association between Age and Umbilical Hernia Repair Outcomes in Children: A Multistate Population-Based Cohort Study. 61
31711762 2020
40
Closure of the fascial defect during laparoscopic umbilical hernia repair: a randomized clinical trial. 61
31971616 2020
41
Open mesh vs. suture umbilical hernia repair: systematic review and updated trial sequential meta-analysis of randomized controlled trials. 61
32096090 2020
42
[Unexpected finding in the hernial sac of an umbilical hernia]. 61
31802137 2020
43
[Preperitoneal Umbilical Hernia Mesh Plasty (PUMP): Indications, Technique and Results]. 61
31394581 2020
44
Umbilical hernia repair with composite prosthesis: Author's reply. 61
31134442 2020
45
Comment to: Umbilical hernia repair with composite prosthesis-a single-center experience. Porrero JL, Cano-Valderrama O, Villar S, et al. 61
31134441 2020
46
Enterocutaneous fistula occurring 10 years after an open umbilical hernia repair with placement of an onlay polypropylene mesh: A case report. 61
32062115 2020
47
Umbilical Hernia and Comorbidities in Children. 61
31896909 2020
48
Flood syndrome: A severe complication of umbilical hernia. 61
31980151 2020
49
Periumbilical Acanthosis Nigricans along the Surgical Site of Umbilical Hernia Operation. 61
32029948 2020
50
Robotic versus open primary ventral hernia repair: A randomized controlled trial (Robovent Trial). 61
32368702 2020

Variations for Umbilical Hernia

ClinVar genetic disease variations for Umbilical Hernia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
2 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
4 subset of 29 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18894835-20311763)copy number loss Pathogenic 523273 22:18894835-20311763
5 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dncomplex Pathogenic 267812
6 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
7 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
8 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)SNV Likely pathogenic 549661 rs868064163 3:179304340-179304340 3:179586552-179586552
9 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)SNV Likely pathogenic 627565 7:42018223-42018223 7:41978624-41978624

Expression for Umbilical Hernia

Search GEO for disease gene expression data for Umbilical Hernia.

Pathways for Umbilical Hernia

Pathways related to Umbilical Hernia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 IGF2 GLI3 CDKN1C

GO Terms for Umbilical Hernia

Biological processes related to Umbilical Hernia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.13 PLAGL1 MTOR CDKN1C
2 regulation of gene expression by genetic imprinting GO:0006349 8.62 IGF2 DNMT3A

Molecular functions related to Umbilical Hernia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 PLAGL1 PITX2 GLI3 DNMT3A ACTL6A

Sources for Umbilical Hernia

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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