MCID: ISL118
MIFTS: 26

Isolated Tracheoesophageal Fistula

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Isolated Tracheoesophageal Fistula

MalaCards integrated aliases for Isolated Tracheoesophageal Fistula:

Name: Isolated Tracheoesophageal Fistula 59
H-Type Tracheoesophageal Fistula 59

Characteristics:

Orphanet epidemiological data:

59
isolated tracheoesophageal fistula
Inheritance: Not applicable; Prevalence: 1-9/100000 (Australia),1-9/100000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA454750
UMLS via Orphanet 74 C0040588
ICD10 via Orphanet 34 Q39.2

Summaries for Isolated Tracheoesophageal Fistula

MalaCards based summary : Isolated Tracheoesophageal Fistula, also known as h-type tracheoesophageal fistula, is related to tracheoesophageal fistula and tracheoesophageal fistula with or without esophageal atresia. An important gene associated with Isolated Tracheoesophageal Fistula 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. Affiliated tissues include pancreas, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Isolated Tracheoesophageal Fistula

Graphical network of the top 20 diseases related to Isolated Tracheoesophageal Fistula:



Diseases related to Isolated Tracheoesophageal Fistula

Symptoms & Phenotypes for Isolated Tracheoesophageal Fistula

GenomeRNAi Phenotypes related to Isolated Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

26
# 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 Isolated Tracheoesophageal Fistula

Search Clinical Trials , NIH Clinical Center for Isolated Tracheoesophageal Fistula

Genetic Tests for Isolated Tracheoesophageal Fistula

Anatomical Context for Isolated Tracheoesophageal Fistula

MalaCards organs/tissues related to Isolated Tracheoesophageal Fistula:

41
Pancreas

Publications for Isolated Tracheoesophageal Fistula

Articles related to Isolated Tracheoesophageal Fistula:

(show all 25)
# Title Authors Year
1
Congenital H-type tracheoesophageal fistula in adults. ( 30026978 )
2018
2
Isolated tracheoesophageal fistula versus esophageal atresia - Early morbidity and short-term outcome. A single institution series. ( 28166998 )
2017
3
Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease. ( 28528013 )
2017
4
Esophageal Dysmotility Is Present Before Surgery in Isolated Tracheoesophageal Fistula. ( 25493344 )
2015
5
H-type Tracheoesophageal Fistula Detected by Radionuclide Salivagram. ( 24900066 )
2012
6
Isolated tracheoesophageal fistula in a 10-year-old girl. ( 17120034 )
2007
7
Definitive localization of isolated tracheoesophageal fistula using bronchoscopy and esophagoscopy for guide wire placement. ( 9856885 )
1998
8
Diagnosis of H-type tracheoesophageal fistula. ( 1941454 )
1991
9
Esophageal motility in an adult with a congenital H-type tracheoesophageal fistula. ( 2249489 )
1990
10
H-type tracheoesophageal fistula. ( 3684367 )
1987
11
Congenital H-type tracheoesophageal fistula: 2 cases safely diagnosed with metrizamide. ( 4080520 )
1985
12
Further experience with intragastric oxygen measurement to diagnose H-type tracheoesophageal fistula. ( 440881 )
1979
13
A case report. "H-Type" tracheoesophageal fistula. Endoscopic diagnosis. ( 690528 )
1978
14
Diagnosis and surgical management of "H-type" tracheoesophageal fistula in infants and children. ( 845768 )
1977
15
Measurement of intragastric oxygen concentration for the diagnosis of H-type tracheoesophageal fistula. ( 905007 )
1977
16
Pneumoesophagus as a sign of H type tracheoesophageal fistula. ( 792792 )
1976
17
Congenital H-type tracheoesophageal fistula complicated by achalasia in an adult: report of a case. ( 1152541 )
1975
18
Congenital H-type tracheoesophageal fistula. ( 4419706 )
1974
19
Method of Roentgen demonstration of H-type tracheoesophageal fistula. ( 5314784 )
1971
20
H-type tracheoesophageal fistula complicated by esophageal stenosis. ( 5415076 )
1970
21
Cystoscope endoscopy in the H-type tracheoesophageal fistula. ( 5911276 )
1966
22
ENDOSCOPIC CATHETERIZATION OF H-TYPE TRACHEOESOPHAGEAL FISTULA. ( 14121783 )
1964
23
The "H-type" tracheoesophageal fistula in infants and children. ( 13908935 )
1962
24
H-type tracheoesophageal fistula. ( 13606702 )
1958
25
H-type tracheoesophageal fistula. ( 13635701 )
1958

Variations for Isolated Tracheoesophageal Fistula

ClinVar genetic disease variations for Isolated Tracheoesophageal Fistula:

6 (show all 26)
# 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 Uncertain significance rs80358989 GRCh37 Chromosome 13, 32931886: 32931886
18 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Uncertain significance 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

Expression for Isolated Tracheoesophageal Fistula

Search GEO for disease gene expression data for Isolated Tracheoesophageal Fistula.

Pathways for Isolated Tracheoesophageal Fistula

GO Terms for Isolated Tracheoesophageal Fistula

Biological processes related to Isolated Tracheoesophageal Fistula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.4 BRCA2 PALB2
2 multicellular organism growth GO:0035264 9.37 BRCA2 PALB2
3 cellular response to DNA damage stimulus GO:0006974 9.33 BRCA2 FANCC PALB2
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 PALB2
5 nucleotide-excision repair GO:0006289 9.26 BRCA2 FANCC
6 DNA repair GO:0006281 9.13 BRCA2 FANCC PALB2
7 inner cell mass cell proliferation GO:0001833 8.62 BRCA2 PALB2

Sources for Isolated Tracheoesophageal Fistula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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