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 Antacids have been mentioned in the context of this disorder. Affiliated tissues include colon, pancreas and trachea, 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 139)
# Related Disease Score Top Affiliating Genes
1 tracheoesophageal fistula 31.7 BRCA2 FANCC PALB2
2 isolated tracheoesophageal fistula 28.9 BRCA2 FANCC PALB2
3 microphthalmia, syndromic 3 12.3
4 anophthalmia esophageal atresia cryptorchidism 12.2
5 esophageal atresia coloboma talipes 12.2
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 barrett esophagus 10.3
22 pyloric stenosis 10.3
23 duodenal atresia 10.3
24 hypertrophic pyloric stenosis 10.3
25 right aortic arch 10.3
26 fryns microphthalmia syndrome 10.2
27 microphthalmia 10.2
28 dysphagia 10.2
29 scoliosis 10.2
30 anus, imperforate 10.2
31 heart disease 10.2
32 pneumonia 10.2
33 squamous cell carcinoma 10.1
34 tracheal stenosis 10.1
35 situs inversus 10.1
36 digeorge syndrome 10.0
37 choanal atresia, posterior 10.0
38 omphalocele 10.0
39 intestinal volvulus 10.0
40 laryngeal cleft 10.0
41 intussusception 10.0
42 pectus excavatum 10.0
43 pyloric stenosis, infantile hypertrophic, 1 10.0
44 tetralogy of fallot 10.0
45 renal hypodysplasia/aplasia 1 10.0
46 charge syndrome 10.0
47 cryptorchidism, unilateral or bilateral 10.0
48 thrombocytopenia-absent radius syndrome 10.0
49 tricuspid atresia 10.0
50 visceral heterotaxy 10.0

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 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Antacids Phase 3
3 Anti-Ulcer Agents Phase 3
4 Proton Pump Inhibitors Phase 3
5 Gastrointestinal Agents Phase 3
6 Pharmaceutical Solutions Phase 2,Not Applicable
7 Omega 3 Fatty Acid Phase 2
8 Fat Emulsions, Intravenous Phase 2
9 Parenteral Nutrition Solutions Phase 2
10 Soy Bean Phase 2
11 Soybean oil, phospholipid emulsion Phase 2
12
Nitric Oxide Approved 10102-43-9 145068
13
Ropivacaine Approved 84057-95-4 175805 71273
14
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
leucovorin Approved Not Applicable 58-05-9 143 6006
18
Iodine Approved, Investigational Not Applicable 7553-56-2 807
19
Ranitidine Approved 66357-59-3, 66357-35-5 3001055
20
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
21
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
22
Cobalamin Experimental Not Applicable 13408-78-1 6857388
23 lysine Not Applicable
24 Micronutrients Not Applicable
25 Vitamins Not Applicable
26 Trace Elements Not Applicable
27 Anesthetics
28 Central Nervous System Depressants
29 Anesthetics, Local
30 Peripheral Nervous System Agents
31 Chlorhexidine gluconate Not Applicable
32 Vitamin B9 Not Applicable
33 Vitamin B Complex Not Applicable
34 Nutrients Not Applicable
35 Vitamin B12 Not Applicable
36 Folate Not Applicable
37 Vitamin B 12 Not Applicable
38 Hematinics Not Applicable
39 threonine Not Applicable
40 cadexomer iodine Not Applicable
41 Ranitidine bismuth citrate
42 Histamine H2 Antagonists

Interventional clinical trials:

(show all 30)
# 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 Caregivers of Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03889041
9 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
10 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
11 High-resolution Esophageal Manometry Completed NCT03415893
12 Ultrasound Guided Percutaneous Tracheostomy Compared to Bronchoscopy Guided Percutaneous Tracheostomy Completed NCT02084862 Not Applicable
13 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
14 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
15 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
16 National Register of Oesophageal Atresia Recruiting NCT02883725
17 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
18 Cardiorespiratory Performance and Pulmonary Microbiome in Patients After Repair of Esophageal Atresia Recruiting NCT03767673 Not Applicable
19 Flourish™ Pediatric Esophageal Atresia Recruiting NCT03615495
20 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705 Not Applicable
21 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
22 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
23 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
24 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
25 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
26 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
27 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable
28 A Metal Bare Stent With 125 Iodine (125I)Seeds for the Treatment of Malignant Central Airway Stenosis Not yet recruiting NCT03944408 Not Applicable
29 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865 Not Applicable
30 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, Pancreas, Trachea, Testes, Brain, Thyroid, 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 1548)
# Title Authors Year
1
Surgical management of newborns with combined tracheoesophageal fistula, esophageal atresia, and duodenal obstruction. ( 30855354 )
2019
2
A new esophageal elongation technique for long-gap esophageal atresia: in vitro comparison of myotomy techniques. ( 30099640 )
2019
3
State of Play: Eight Decades of Surgery for Esophageal Atresia. ( 30112748 )
2019
4
Surgical repair of long-gap esophageal atresia: A retrospective study comparing the management of long-gap esophageal atresia in the Nordic countries. ( 30220451 )
2019
5
Health-related quality of life experiences in children and adolescents born with esophageal atresia: A Swedish-German focus group study. ( 30221367 )
2019
6
Infants with esophageal atresia and right aortic arch: Characteristics and outcomes from the Midwest Pediatric Surgery Consortium. ( 30224238 )
2019
7
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. ( 30261518 )
2019
8
Magnetic compression anastomosis (magnamosis) in a porcine esophagus: Proof of concept for potential application in esophageal atresia. ( 30309731 )
2019
9
Prenatal diagnosis of esophageal atresia: A case of triple negative screening. ( 30347256 )
2019
10
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. ( 30401496 )
2019
11
Post-operative paralysis and elective ventilation reduces anastomotic complications in esophageal atresia: a systematic review and meta-analysis. ( 30415438 )
2019
12
Suture fistula revisited for long gap esophageal atresia. ( 30527759 )
2019
13
Prevalence of Eosinophilic Esophagitis in Adolescents with Esophageal Atresia. ( 30614952 )
2019
14
Prenatal detection of esophageal atresia: A systematic review and meta-analysis. ( 30659586 )
2019
15
Treatment of two newborns with esophageal atresia and distal tracheoesophageal fistula complicated by gastric perforation: choosing the simple way. ( 30714508 )
2019
16
Pedicled jejunal interposition for long gap esophageal atresia. ( 30717983 )
2019
17
Erector spinae plane block for pain management of esophageal atresia in a preterm neonate. ( 30763827 )
2019
18
Postoperative noninvasive ventilation and complications in esophageal atresia-tracheoesophageal fistula. ( 30814037 )
2019
19
Long-Term Effectiveness of Antireflux Surgery in Esophageal Atresia Patients. ( 30822811 )
2019
20
Management of esophageal atresia and early predictive factors of mortality and morbidity in a developing country. ( 30828713 )
2019
21
Management of long gap esophageal atresia: A systematic review and evidence-based guidelines from the APSA Outcomes and Evidence Based Practice Committee. ( 30853248 )
2019
22
The prevalence and role of coping strategies in the nutritional intake of children born with esophageal atresia: a condition-specific approach. ( 30888393 )
2019
23
Sarcina Ventriculi in a patient with repaired Esophageal Atresia: a benign commensal? ( 30889122 )
2019
24
Should Proton Pump Inhibitors be Systematically Prescribed in Patients with Esophageal Atresia After Surgical Repair? ( 30889131 )
2019
25
Tracheoscopic Findings and Their Impact on Respiratory Symptoms in Children with Esophageal Atresia. ( 30900225 )
2019
26
Esophagitis in Pediatric Esophageal Atresia: Acid May Not Always Be the Issue. ( 30921254 )
2019
27
Prenatal Detection of Esophageal Atresia with Transposition of Great Arteries ( 30945524 )
2019
28
Esophageal Atresia in a Newborn Born to a Parkinson's Mother Had L-Dopa/Benserazide Treatment during Pregnancy. ( 31007451 )
2019
29
The impact of congenital esophageal atresia on the family functioning. ( 31027866 )
2019
30
Is There a Role for pH Impedance Monitoring in Identifying Eosinophilic Esophagitis in Children with Esophageal Atresia? ( 31036410 )
2019
31
The Use of Endoclips in Thoracoscopic Correction of Esophageal Atresia: Advantages or Complications? ( 31058569 )
2019
32
Thoracoscopic approach for complications after esophageal atresia repair: initial experience. ( 31066217 )
2019
33
Predictors of the Performance of Early Antireflux Surgery in Esophageal Atresia. ( 31072651 )
2019
34
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. ( 31103274 )
2019
35
A New Operative Approach for Long-Gap Esophageal Atresia. ( 31105401 )
2019
36
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. ( 29635651 )
2019
37
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
38
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? ( 29257230 )
2018
39
Complete resolution of dysphagia after sequential Polyflex™ stenting in a case of recurrent anastomotic stenosis in an adult with congenital esophageal atresia. ( 30338691 )
2018
40
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
41
Double Supercharged Jejunal Interposition for Late Salvage of Long-gap Esophageal Atresia. ( 29905609 )
2018
42
Quality of Life in Parents of Children Born with Esophageal Atresia. ( 29920636 )
2018
43
Location of TEF at the carina as an indicator of long-gap C-type esophageal atresia. ( 29931283 )
2018
44
Experience with fully covered self-expandable metal stents for anastomotic stricture following esophageal atresia repair. ( 29939253 )
2018
45
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
46
MUSCLE-SPARING VERSUS STANDARD POSTEROLATERAL THORACOTOMY IN NEONATES WITH ESOPHAGEAL ATRESIA. ( 29972393 )
2018
47
Magnet-Assisted Hydraulic Bougienage for Correction of Long-Gap Esophageal Atresia. ( 29989954 )
2018
48
Staged Thoracoscopic Repair of Long-Gap Esophageal Atresia Without Temporary Gastrostomy. ( 30016196 )
2018
49
A chest tube may not be needed after surgical repair of esophageal atresia and tracheoesophageal fistula. ( 30051148 )
2018
50
Vocal cord paralysis appears to be an acquired lesion in children with repaired esophageal atresia/tracheoesophageal fistula. ( 30055738 )
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 Conflicting interpretations of pathogenicity rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
16 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Conflicting interpretations of pathogenicity 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 Conflicting interpretations of pathogenicity rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
22 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Conflicting interpretations of pathogenicity 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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