MCID: TRC109
MIFTS: 46

Tracheoesophageal Fistula with or Without Esophageal Atresia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards integrated aliases for Tracheoesophageal Fistula with or Without Esophageal Atresia:

Name: Tracheoesophageal Fistula with or Without Esophageal Atresia 58
Esophageal Atresia 60 74
Esophageal Atresia with or Without Tracheoesophageal Fistula 58

Characteristics:

Orphanet epidemiological data:

60
esophageal atresia
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Neonatal;

OMIM:

58
Inheritance:
probably multifactorial


Classifications:



External Ids:

OMIM 58 189960
MESH via Orphanet 46 D004933
ICD10 via Orphanet 35 Q39.0 Q39.1
UMLS via Orphanet 75 C0014850
Orphanet 60 ORPHA1199
MedGen 43 C1861028
SNOMED-CT via HPO 70 26179002 95435007
UMLS 74 C0014850

Summaries for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards based summary : Tracheoesophageal Fistula with or Without Esophageal Atresia, also known as esophageal atresia, is related to tracheoesophageal fistula and isolated tracheoesophageal fistula. An important gene associated with Tracheoesophageal Fistula with or Without Esophageal Atresia is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. The drugs Omeprazole and Anti-Ulcer Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, trachea and testes, and related phenotypes are tracheoesophageal fistula and esophageal atresia

Description from OMIM: 189960

Related Diseases for Tracheoesophageal Fistula with or Without Esophageal Atresia

Diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 31.7 PALB2 FANCC BRCA2
2 isolated tracheoesophageal fistula 28.9 PALB2 FANCC BRCA2
3 anophthalmia esophageal atresia cryptorchidism 12.2
4 esophageal atresia coloboma talipes 12.2
5 microphthalmia, syndromic 3 12.1
6 esophageal atresia/tracheoesophageal fistula 12.0
7 vacterl association 11.5
8 vater/vacterl association 11.5
9 arroyo garcia cimadevilla syndrome 11.5
10 fanconi anemia, complementation group b 11.2
11 diarrhea 5, with tufting enteropathy, congenital 11.2
12 anophthalmos with limb anomalies 11.2
13 methimazole antenatal exposure 11.2
14 esophageal atresia 10.6
15 gastroesophageal reflux 10.5
16 tracheomalacia 10.5
17 diaphragmatic hernia, congenital 10.4
18 esophagitis 10.4
19 lung agenesis 10.4
20 esophagitis, eosinophilic, 1 10.3
21 pyloric stenosis 10.3
22 duodenal atresia 10.2
23 barrett esophagus 10.2
24 hypertrophic pyloric stenosis 10.2
25 right aortic arch 10.2
26 scoliosis 10.2
27 microphthalmia 10.2
28 dysphagia 10.2
29 anus, imperforate 10.2
30 heart disease 10.1
31 pneumonia 10.1
32 squamous cell carcinoma 10.1
33 tracheal stenosis 10.1
34 situs inversus 10.1
35 digeorge syndrome 10.0
36 choanal atresia, posterior 10.0
37 omphalocele 10.0
38 laryngeal cleft 10.0
39 intussusception 9.9
40 pectus excavatum 9.9
41 pyloric stenosis, infantile hypertrophic, 1 9.9
42 tetralogy of fallot 9.9
43 renal hypodysplasia/aplasia 1 9.9
44 fryns microphthalmia syndrome 9.9
45 tricuspid atresia 9.9
46 microcephaly 9.9
47 disease of mental health 9.9
48 intestinal volvulus 9.9
49 dextrocardia 9.9
50 swallowing disorders 9.9

Graphical network of the top 20 diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia:



Diseases related to Tracheoesophageal Fistula with or Without Esophageal Atresia

Symptoms & Phenotypes for Tracheoesophageal Fistula with or Without Esophageal Atresia

Human phenotypes related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

33
# Description HPO Frequency HPO Source Accession
1 tracheoesophageal fistula 33 HP:0002575
2 esophageal atresia 33 HP:0002032

Symptoms via clinical synopsis from OMIM:

58
G I:
tracheoesophageal fistula
esophageal atresia

Clinical features from OMIM:

189960

GenomeRNAi Phenotypes related to Tracheoesophageal Fistula with or Without Esophageal Atresia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.43 BRCA2 PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.43 BRCA2 PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.43 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 BRCA2 FANCC PALB2

Drugs & Therapeutics for Tracheoesophageal Fistula with or Without Esophageal Atresia

Drugs for Tracheoesophageal Fistula with or Without Esophageal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Anti-Ulcer Agents Phase 3
3 Antacids Phase 3
4 Gastrointestinal Agents Phase 3
5 Proton Pump Inhibitors Phase 3
6 Pharmaceutical Solutions Phase 2,Not Applicable
7 Omega 3 Fatty Acid Phase 2
8 Soybean oil, phospholipid emulsion Phase 2
9 Fat Emulsions, Intravenous Phase 2
10 Parenteral Nutrition Solutions Phase 2
11 Soy Bean Phase 2
12
Nitric Oxide Approved 10102-43-9 145068
13
Ropivacaine Approved 84057-95-4 71273 175805
14
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
15
leucovorin Approved Not Applicable 58-05-9 6006 143
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 15589840
18
Ranitidine Approved 66357-59-3, 66357-35-5 3001055
19
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
20
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
21
Cobalamin Experimental Not Applicable 13408-78-1 6857388
22 Vitamins Not Applicable
23 Trace Elements Not Applicable
24 Micronutrients Not Applicable
25 lysine Not Applicable
26 Anesthetics
27 Anesthetics, Local
28 Central Nervous System Depressants
29 Peripheral Nervous System Agents
30 Chlorhexidine gluconate Not Applicable
31 Vitamin B12 Not Applicable
32 Vitamin B9 Not Applicable
33 Folate Not Applicable
34 Vitamin B 12 Not Applicable
35 Hematinics Not Applicable
36 Vitamin B Complex Not Applicable
37 Nutrients Not Applicable
38 threonine Not Applicable
39 Histamine H2 Antagonists
40 Ranitidine bismuth citrate

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Recruiting NCT03730454 Phase 4
2 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
3 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3 Omeprazole suppository
4 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Not yet recruiting NCT03127345 Phase 2 Omegaven;Intralipid
5 Adipose Derived SVF for Aero-digestive Fistulae Not yet recruiting NCT03792360 Phase 1 SVF (Stromal Vascular Fraction)
6 Trichloroacetic Acid for Endoscopic Tracho-esophageal Fistula Repair Unknown status NCT01287312 Not Applicable
7 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245 Not Applicable
8 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
9 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
10 High-resolution Esophageal Manometry Completed NCT03415893
11 Ultrasound Guided Percutaneous Tracheostomy Compared to Bronchoscopy Guided Percutaneous Tracheostomy Completed NCT02084862 Not Applicable
12 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
13 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
14 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
15 National Register of Oesophageal Atresia Recruiting NCT02883725
16 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
17 Cardiorespiratory Performance and Pulmonary Microbiome in Patients After Repair of Esophageal Atresia Recruiting NCT03767673 Not Applicable
18 Flourish™ Pediatric Esophageal Atresia Recruiting NCT03615495
19 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705 Not Applicable
20 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
21 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
22 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
23 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
24 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
25 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
26 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable
27 Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Not yet recruiting NCT03889041
28 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865 Not Applicable
29 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids

Search NIH Clinical Center for Tracheoesophageal Fistula with or Without Esophageal Atresia

Genetic Tests for Tracheoesophageal Fistula with or Without Esophageal Atresia

Anatomical Context for Tracheoesophageal Fistula with or Without Esophageal Atresia

MalaCards organs/tissues related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

42
Colon, Trachea, Testes, Pancreas, Brain, Bone, Smooth Muscle

Publications for Tracheoesophageal Fistula with or Without Esophageal Atresia

Articles related to Tracheoesophageal Fistula with or Without Esophageal Atresia:

(show top 50) (show all 1537)
# Title Authors Year
1
Surgical management of newborns with combined tracheoesophageal fistula, esophageal atresia, and duodenal obstruction. ( 30855354 )
2019
2
State of Play: Eight Decades of Surgery for Esophageal Atresia. ( 30112748 )
2019
3
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. ( 30261518 )
2019
4
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. ( 30401496 )
2019
5
Developmental Status of Children Operated for Esophageal Atresia with or without Tracheoesophageal Fistula Along with Maternal Stress, Their Quality of life, and Coping Abilities at AIIMS, New Delhi. ( 30597492 )
2019
6
Prevalence of Eosinophilic Esophagitis in Adolescents with Esophageal Atresia. ( 30614952 )
2019
7
Prenatal detection of esophageal atresia: a systematic review and meta-analysis. ( 30659586 )
2019
8
Treatment of two newborns with esophageal atresia and distal tracheoesophageal fistula complicated by gastric perforation: choosing the simple way. ( 30714508 )
2019
9
Pedicled jejunal interposition for long gap esophageal atresia. ( 30717983 )
2019
10
Erector spinae plane block for pain management of esophageal atresia in a preterm neonate. ( 30763827 )
2019
11
Postoperative noninvasive ventilation and complications in esophageal atresia-tracheoesophageal fistula. ( 30814037 )
2019
12
Long-Term Effectiveness of Antireflux Surgery in Esophageal Atresia Patients. ( 30822811 )
2019
13
Management of esophageal atresia and early predictive factors of mortality and morbidity in a developing country. ( 30828713 )
2019
14
Management of long gap esophageal atresia: A systematic review and evidence-based guidelines from the APSA Outcomes and Evidence Based Practice Committee. ( 30853248 )
2019
15
The prevalence and role of coping strategies in the nutritional intake of children born with esophageal atresia: a condition-specific approach. ( 30888393 )
2019
16
Sarcina Ventriculi in a patient with repaired Esophageal Atresia: a benign commensal? ( 30889122 )
2019
17
Should Proton Pump Inhibitors be Systematically Prescribed in Patients with Esophageal Atresia After Surgical Repair? ( 30889131 )
2019
18
Tracheoscopic Findings and Their Impact on Respiratory Symptoms in Children with Esophageal Atresia. ( 30900225 )
2019
19
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
20
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchioa89otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? ( 29257230 )
2018
21
Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia. ( 29732364 )
2018
22
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
23
Repair of congenital esophageal atresia with tracheoesophageal fistula repair in Ontario over the last 20years: Volume and outcomes. ( 29519572 )
2018
24
Impact of Esophageal Atresia on the Success of Fundoplication for Gastroesophageal Reflux. ( 29628411 )
2018
25
The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia. ( 29622396 )
2018
26
Location of TEF at the carina as an indicator of long-gap C-type esophageal atresia. ( 29931283 )
2018
27
Magnetic Compression Anastomosis in Long-Gap Esophageal Atresia Gross Type A: A Case Report. ( 29796381 )
2018
28
MUSCLE-SPARING VERSUS STANDARD POSTEROLATERAL THORACOTOMY IN NEONATES WITH ESOPHAGEAL ATRESIA. ( 29972393 )
2018
29
Experience with fully covered self-expandable metal stents for anastomotic stricture following esophageal atresia repair. ( 29939253 )
2018
30
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair: a new approach to prevent tracheomalacia complications. ( 29804792 )
2018
31
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. ( 29635651 )
2018
32
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
33
Congenital Heart Disease and Its Impact on the Development of Anastomotic Strictures after Reconstruction of Esophageal Atresia. ( 29887883 )
2018
34
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. ( 29373986 )
2018
35
Quality of Life in Parents of Children Born with Esophageal Atresia. ( 29920636 )
2018
36
Anastomotic Strictures after Esophageal Atresia Repair: Timing of Dilatation during the First Two Postoperative Years. ( 29740616 )
2018
37
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. ( 29373345 )
2018
38
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing. ( 29621589 )
2018
39
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
40
Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula. ( 29429769 )
2018
41
Kluth Type IIIb<sub>6</sub> Esophageal Atresia: Diagnostic Dilemma and Pitfalls of Using Infant Feeding Tube. ( 29681702 )
2018
42
Oral feeding outcomes in infants with esophageal atresia and tracheoesophageal fistula. ( 29519575 )
2018
43
Double Supercharged Jejunal Interposition for Late Salvage of Long-gap Esophageal Atresia. ( 29905609 )
2018
44
Intentional tracheoesophageal fistula cannulation for gastric decompression in type C esophageal atresia. ( 29484765 )
2018
45
Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature. ( 29720579 )
2018
46
The Esophageal-atresia-Quality-of-life questionnaires: feasibility, validity and reliability in Sweden and Germany. ( 29738345 )
2018
47
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
48
Esophageal Atresia with Tracheoesophageal Fistula and Gastroesophageal Reflux in Children: Dental Considerations and Case Report. ( 29750630 )
2018
49
Prevalence of Laryngeal Cleft in Pediatric Patients With Esophageal Atresia. ( 29270628 )
2018
50
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018

Variations for Tracheoesophageal Fistula with or Without Esophageal Atresia

ClinVar genetic disease variations for Tracheoesophageal Fistula with or Without Esophageal Atresia:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh37 Chromosome 17, 59793412: 59793412
2 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh38 Chromosome 17, 61716051: 61716051
3 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
4 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
5 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
6 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
7 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
8 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
9 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
10 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
11 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
12 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
13 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
14 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
15 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
16 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh38 Chromosome 13, 32354904: 32354904
17 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80358989 GRCh37 Chromosome 13, 32931886: 32931886
18 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80358989 GRCh38 Chromosome 13, 32357749: 32357749
19 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh38 Chromosome 16, 23641147: 23641147
20 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh37 Chromosome 16, 23652468: 23652468
21 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
22 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh37 Chromosome 16, 23635391: 23635391
23 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
24 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
25 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
26 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
27 46;XY;t(15;17)(q24;q21.3)dn Translocation Pathogenic
28 46;XY;t(6;8)(q13;q13)dn Translocation Pathogenic

Expression for Tracheoesophageal Fistula with or Without Esophageal Atresia

Search GEO for disease gene expression data for Tracheoesophageal Fistula with or Without Esophageal Atresia.

Pathways for Tracheoesophageal Fistula with or Without Esophageal Atresia

GO Terms for Tracheoesophageal Fistula with or Without Esophageal Atresia

Biological processes related to Tracheoesophageal Fistula with or Without Esophageal Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.4 BRCA2 PALB2
2 cellular response to DNA damage stimulus GO:0006974 9.33 BRCA2 FANCC PALB2
3 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 PALB2
4 nucleotide-excision repair GO:0006289 9.26 BRCA2 FANCC
5 DNA repair GO:0006281 9.13 BRCA2 FANCC PALB2
6 multicellular organism growth GO:0035264 9.07 PALB2
7 inner cell mass cell proliferation GO:0001833 8.62 BRCA2 PALB2

Sources for Tracheoesophageal Fistula with or Without Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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