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 carpenter syndrome 1 and diabetes mellitus, 6q24-related transient neonatal. 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 kidney, and related phenotypes are embryo and mortality/aging

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 carpenter syndrome 1 32.5 RAB23 MEGF8 GLI3
2 diabetes mellitus, 6q24-related transient neonatal 32.4 PLAGL1 HYMAI
3 beckwith-wiedemann syndrome 31.9 PLAGL1 KCNQ1OT1 IGF2 H19 DYNC1I2 DNMT3A
4 pica disease 30.1 PTER PES1
5 hemihyperplasia, isolated 30.0 KCNQ1OT1 IGF2 H19 CDKN1C
6 omphalocele 29.9 PLOD1 KCNQ1OT1 IGF2 GLI3 DYNC1I2 CDKN1C
7 chromosome 2q35 duplication syndrome 29.8 RAB23 PES1 GLI3
8 smith-kingsmore syndrome 12.2
9 shprintzen-goldberg craniosynostosis syndrome 11.7
10 mucopolysaccharidosis, type ii 11.6
11 hurler-scheie syndrome 11.6
12 scheie syndrome 11.6
13 weaver syndrome 11.5
14 mucopolysaccharidosis, type vi 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 chromosome 6q11-q14 deletion syndrome 11.3
36 tatton-brown-rahman syndrome 11.3
37 hyperekplexia 4 11.3
38 3mc syndrome 11.3
39 hennekam syndrome 11.3
40 achondrogenesis 11.3
41 mucopolysaccharidosis iii 11.3
42 mucopolysaccharidosis iv 11.3
43 cutis laxa 11.3
44 bamforth syndrome 11.3
45 central congenital hypothyroidism 11.3
46 progeroid syndrome petty type 11.3
47 liver cirrhosis 10.6
48 silver-russell syndrome due to a point mutation 10.5 IGF2 CDKN1C
49 inguinal hernia 10.5
50 silver-russell syndrome due to 11p15 microduplication 10.5 IGF2 H19

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

Diseases related to Umbilical Hernia

Symptoms & Phenotypes for Umbilical Hernia

MGI Mouse Phenotypes related to Umbilical Hernia:

# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.1 DNMT3A GLI3 IGF2 MEGF8 MTOR PES1
2 mortality/aging MP:0010768 10.07 ACTL6A DNMT3A GLI3 IDUA IGF2 MEGF8
3 craniofacial MP:0005382 10.03 ADAMTS2 GLI3 IDUA IGF2 MEGF8 PES1
4 integument MP:0010771 9.97 ADAMTS2 GLI3 IDUA IGF2 MEGF8 PLAGL1
5 limbs/digits/tail MP:0005371 9.87 GLI3 IDUA IGF2 MEGF8 PITX2 PLAGL1
6 muscle MP:0005369 9.7 DNMT3A IDUA IGF2 MEGF8 MTOR PITX2
7 respiratory system MP:0005388 9.5 ADAMTS2 GLI3 IGF2 MEGF8 MTOR PITX2
8 skeleton MP:0005390 9.36 ADAMTS2 DNMT3A GLI3 IDUA IGF2 MEGF8

Drugs & Therapeutics for Umbilical Hernia

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9 Analgesics Phase 4
10 Anesthetics, General Phase 4
11 Anesthetics, Intravenous Phase 4
12 Natriuretic Agents Phase 4
13 Pharmaceutical Solutions Phase 4
14 diuretics Phase 4
15 Sodium Potassium Chloride Symporter Inhibitors Phase 4
16 Neurotransmitter Agents Phase 4
17 Anesthetics, Dissociative Phase 4
18 Hypnotics and Sedatives Phase 4
19 Excitatory Amino Acids Phase 4
20 Excitatory Amino Acid Antagonists Phase 4
21 Anesthetics, Local Phase 4
22 Anesthetics Phase 4
23 Central Nervous System Depressants Phase 4
24 BB 1101 Phase 4
Ibuprofen Approved Phase 3 15687-27-1 3672
26 Liver Extracts Phase 3
27 Anti-Inflammatory Agents Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 3
30 Cyclooxygenase Inhibitors Phase 3
31 Antirheumatic Agents Phase 3
32 Narcotics Phase 3
Morphine Approved, Investigational 57-27-2 5288826
Acetaminophen Approved 103-90-2 1983
Procaine Approved, Investigational, Vet_approved 59-46-1 4914
Chloroprocaine Approved 133-16-4 8612
Prilocaine Approved 721-50-6 4906
Sufentanil Approved, Investigational 56030-54-7 41693
Sodium oxybate Approved 502-85-2 5360545
40 Anti-Bacterial Agents
41 Gentamicins
42 Anti-Infective Agents
43 Antipyretics
44 Analgesics, Opioid
45 Adjuvants, Anesthesia
46 Fibrin Tissue Adhesive
47 Hemostatics
48 Coagulants
49 Vaccines
50 Trace Elements

Interventional clinical trials:

(show top 50) (show all 60)
# 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)
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 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
10 Transabdominal Plane (TAP) Blocks in Ventral Hernia Repair Completed NCT02007096 Phase 2 Transabdominal Plane Block;Non Transabdominal Plane Block
11 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
12 Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03526588 Phase 1
13 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
14 A Prospective, Multicenter, Randomized Trial Comparing Laparoscopy VS Conventional Mesh Repair of Incisional and Umbilical Hernia Unknown status NCT00970515
15 The Flemish Umbilical Nitinol Mesh Trial, a Multicenter Randomized Controlled Trial. Unknown status NCT01543789
16 The Impact of Medical Clowning on Pain and Stress Level in Pediatric Patients Undergoing Hernia Repair Surgery LAUGH Study Unknown status NCT01622218
17 Case-control Study of Mesh-infection After a Size Tailored Hernia Repair With C-Qur V-Patch Unknown status NCT01761708
18 Recurrence Rate After Primary and Secondary Ventral Hernia Repair Using Long-term Resorbable Versus Non-resorbable Large Pore Synthetic Mesh. Unknown status NCT01622725
19 Nationwide Prospective Study of Surgical Risk Factors for Poor Outcome After Epigastric and Umbilical Hernia Repair Completed NCT01665859
20 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
21 Prospective Observational Cohort Study of Robot-assisted Laparoscopic Hernia Umbilical Hernia Repair (rTARUP) Completed NCT02975414
22 Mesh Versus Suture Repair for Umbilical Hernias: a Double Blinded, Randomised Controlled Clinical Trial Completed NCT00789230
23 Watchful Waiting of Incisional Hernias: A Prospective Trial Completed NCT00351455
24 Percutaneous Rectus Sheath Block Versus Intra-operative Rectus Sheath Block for Pediatric Umbilical Hernia Repair: A Prospective, Randomized Study Completed NCT02341144 Ropivacaine
25 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
26 Professor and HOD Department of Surgery DIMC Completed NCT04164524 Gentamycin
27 Morphological Imaging of Meshes in Underlay Position After Treatment of Primary Umbilical Hernias: a Randomised Controlled Trial Completed NCT03200405
28 High Incidence of Chronic Complaints and Recurrence 5 Years After Simple Sutured Umbilical Hernia Repair Completed NCT01741740
29 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
30 Ultrasound-guided Rectus Sheath Block for Post-operative Pain Control Following Umbilical Hernia Repair Completed NCT00836134
31 Postoperative Pain After Pediatric Umbilical Hernia Repair: a Randomized Clinical Trial of Ultrasound-guided Bilateral Rectus Sheath Blocks Versus Local Anesthetic Infiltration Completed NCT01015053
32 Quality of Life After Laparoscopic Inguinal- Incisional- and Umbilical Herniotomy. Completed NCT01289093
33 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
34 No Need for Neuromuscular Blockade in Day Case Standardised Laparoscopic Surgery. A Consecutive Retrospective Study Completed NCT02782832
35 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
36 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
37 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
38 Abdominal Hernia in Cirrhotic Patients: Surgery or Conservative Treatment? Completed NCT02787772
39 Risk of Umbilical Trocar-site Hernia After SILC Versus Conventional Laparoscopic Cholecystectomy Completed NCT01740973
40 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
41 Animal-assisted Therapy in Pediatric Surgery: Cardiovascular, Neurological and Endocrinological Responses to Stress and Pain in the Immediate Post-operative Period Completed NCT02284100
42 Natural Orifice Translumenal Endoscopic Surgery (NOTES): Laparoscopic Assisted Transvaginal Ventral Hernia Repair Recruiting NCT01398215
43 Prevalence of Sarcopenia and Undernutrition in Patients With Cirrhosis and Abdominal Hernia Recruiting NCT03458845
44 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
45 Local Repair of Umbilical Hernia in Cirrhotic Patient Using Intraperitoneal Onlay Mesh Technique Recruiting NCT04088253
46 Utilization of Very Low Calorie Diet in Obese General Surgery Patients Recruiting NCT03553849
47 Randomized Clinical Trial Comparing Open Preperitoneal Mesh, Retromuscular Mesh and Suture Repair for Abdominal Wall Hernias Less Than 3 cm Diameter Recruiting NCT03255239
48 Registry Based, Randomized Controlled Trial Comparing eTEP and Laparoscopic Intraperitoneal Onlay Mesh (IPOM) for Ventral Hernia Repair Recruiting NCT04150796
49 Utility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection Recruiting NCT03520465
50 Robotic Versus Open Primary Ventral Hernia Repair: a Randomized Controlled Trial Recruiting NCT04171921

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:

Liver, Small Intestine, Kidney, Heart, Skin, Colon, Lung

Publications for Umbilical Hernia

Articles related to Umbilical Hernia:

(show top 50) (show all 1516)
# Title Authors PMID Year
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
[Unexpected finding in the hernial sac of an umbilical hernia]. 61
31802137 2020
Umbilical hernia repair with composite prosthesis: Author's reply. 61
31134442 2020
Closure of the fascial defect during laparoscopic umbilical hernia repair: a randomized clinical trial. 61
31971616 2020
Comment to: Umbilical hernia repair with composite prosthesis-a single-center experience. Porrero JL, Cano-Valderrama O, Villar S, et al. 61
31134441 2020
Long-term follow-up after single-incision laparoscopic surgery. 61
30863926 2020
Umbilical Ablation During Deep Inferior Epigastric Perforator Flap Harvest Decreases Donor Site Complications. 61
32000254 2020
Flood syndrome: A severe complication of umbilical hernia. 61
31980151 2020
Umbilical Hernia and Comorbidities in Children. 61
31896909 2020
Periumbilical Acanthosis Nigricans along the Surgical Site of Umbilical Hernia Operation. 61
32029948 2020
Are Children Scheduled for Ventilation Tubes Insertion Overweight? A Cohort of Israeli Children. 61
31994406 2020
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. 61
31972898 2020
Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem? 61
31890699 2019
Diabetes in day case general and vascular surgery: A multicentre regional audit. 61
31884722 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. 61
31721432 2019
Individualized treatment of pediatric inguinal hernia reduces adolescent recurrence rate: an analysis of 3006 cases. 61
31858238 2019
Umbilical reconstruction: different techniques, a single aim. 61
31910176 2019
A new umbilicoplasty technique for the management of large umbilical hernia in children. 61
31065913 2019
Point-of-Care Ultrasonography for Hernia Reduction: A Case of Incarcerated Umbilical Hernia. 61
31708320 2019
[Experience of general surgical procedures in patients after heart transplantation]. 61
31995726 2019
Regionalization of Emergency General Surgery Operations: A Simulation Study. 61
31804419 2019
Association between Age and Umbilical Hernia Repair Outcomes in Children: A Multistate Population-Based Cohort Study. 61
31711762 2019
Case of perforated appendicitis within an umbilical hernia. 61
31782229 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 61
31373173 2019
The Ideal Candidate for Subcutaneous Endoscopically Assisted Ligation (SEAL) of the Internal Ring for Pediatric Inguinal Hernia Repair. 61
31775968 2019
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. 61
31775791 2019
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome: A Case Report and Review of Cases Reported from India. 61
31807449 2019
Anaesthetic Challenges in a Rare Syndrome: Perioperative Management of a Patient with POEMS Syndrome Who Underwent Umbilical Hernioplasty. 61
31572995 2019
Predictors for recurrence after open umbilical hernia repair in 979 patients. 61
31399219 2019
Stemming the Tide of Opioid Addiction-Dramatic Reductions in Postoperative Opioid Requirements Through Preoperative Education and a Standardized Analgesic Regimen. 61
31621868 2019
Telephone Follow-Up for Emergency General Surgery Procedures: Safety and Implication for Health Resource Use. 61
31654733 2019
Primary Umbilical Hernia Repair: A Large-Volume Single-Surgeon Study. 61
31657315 2019
Is Abdominoplasty and Concomitant Laparoscopic Umbilical Hernia Repair Feasible by a Plastic Surgeon? 61
31612949 2019
Concomitant Abdominoplasty and Umbilical Hernia Repair Via Laparoscopy: Indications and Technical Notes. 61
31612950 2019
Updated outcomes of laparoscopic versus open umbilical hernia repair in patients with obesity based on a National Surgical Quality Improvement Program review. 61
31576443 2019
Socioeconomic disparities in the complexity of hernias evaluated at Emergency Departments across the United States. 61
30587331 2019
Lower Risk of Recurrence After Mesh Repair Versus Non-Mesh Sutured Repair in Open Umbilical Hernia Repair: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. 61
30488767 2019
Need for Consensus Guidelines in Pediatric Umbilical Hernia Repair. 61
31566667 2019
Need for Consensus Guidelines in Pediatric Umbilical Hernia Repair. 61
31566681 2019
Inconsistency in Opioid Prescribing Practices After Pediatric Ambulatory Hernia Surgery. 61
31009886 2019
Hypothyroidism and hyperthyroidism. 61
31577260 2019
A Systematic Review of Current Consensus on Timing of Operative Repair Versus Spontaneous Closure for Asymptomatic Umbilical Hernias in Pediatric. 61
31762563 2019
Tentacle-shaped mesh for fixation-free repair of umbilical hernias. 61
30980199 2019
Umbilical Lesions: A Cluster of Known Unknowns and Unknown Unknowns. 61
31592364 2019
[Preperitoneal Umbilical Hernia Mesh Plasty (PUMP): Indications, Technique and Results]. 61
31394581 2019
Confounding factors on the analysis of opioid prescription after pediatric umbilical hernia repair. 61
30928023 2019
Reply to: Confounding factors on the analysis of opioid prescription after pediatric umbilical hernia repair. 61
30961893 2019
Transumbilical repair of umbilical hernia in children: The covert scar approach. 61
30274709 2019
Anesthetic Management of a Patient with Severe Diastolic Dysfunction for Umbilical Hernia Repair: A Case Report. 61
31587717 2019
Left Lateral Port: Safe Laparoscopic Port Entry in Previous Large Upper Abdomen Laparotomy Scar. 61
31256782 2019

Variations for Umbilical Hernia

ClinVar genetic disease variations for Umbilical Hernia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dncomplex Pathogenic 267812
2 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
3 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
4 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
5 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
6 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
7 subset of 29 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18894835-20311763)copy number loss Pathogenic 523273 22:18894835-20311763
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 9.54 PLAGL1 MTOR CDKN1C
2 negative regulation of smoothened signaling pathway GO:0045879 9.32 MEGF8 GLI3
3 regulation of gene expression by genetic imprinting GO:0006349 9.26 IGF2 DNMT3A
4 craniofacial suture morphogenesis GO:0097094 9.16 RAB23 MEGF8
5 camera-type eye development GO:0043010 9.13 PITX2 GLI3 CDKN1C
6 embryonic placenta morphogenesis GO:0060669 8.62 IGF2 CDKN1C

Sources for Umbilical Hernia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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