TCS
MCID: TRC011
MIFTS: 51

Treacher Collins Syndrome (TCS) malady

Summaries for Treacher Collins Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Treacher collins syndrome is a condition that affects the development of bones and other tissues in the face. the signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). mutations in the tcof1 gene cause treacher collins syndrome. this condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. about 60 percent of cases result from new mutations in the tcof1 gene. last updated: 2/28/2011

MalaCards: Treacher Collins Syndrome, also known as mandibulofacial dysostosis, is related to treacher collins syndrome 3 and cleft palate. An important gene associated with Treacher Collins Syndrome is TCOF1 (Treacher Collins-Franceschetti syndrome 1), and among its related pathways are RNA Polymerase III Transcription Initiation and RNA Polymerase I Chain Elongation. The compounds rrna and glycyrrhizin have been mentioned in the context of this disorder. Affiliated tissues include tongue, and related mouse phenotype digestive/alimentary.

Description from OMIM:47 154500,613717,248390

GeneReviews summary for tcs

Aliases & Classifications for Treacher Collins Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 47OMIM, 35MeSH, 57SNOMED-CT, 61UMLS, 40NCIt
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Aliases & Descriptions:

treacher collins syndrome 8 64 19 43 20 22 21 10 45
mandibulofacial dysostosis 8 19 43 21
treacher collins-franceschetti syndrome 19 43 21
franceschetti-zwahlen-klein syndrome 21
zygoauromandibular dysplasia 21
franceschetti syndrome 8
tcof 43
mfd1 43
tcs 43


External Ids:

Disease Ontology8 DOID:2908
NCIt40 C75018

Related Diseases for Treacher Collins Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the treacher collins syndrome 3 family:

treacher collins syndrome familial treacher collins syndrome
treacher collins syndrome 1 treacher collins syndrome 2

Diseases related to Treacher Collins Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 331.0POLR1C
2cleft palate30.7TCOF1
3goldenhar syndrome30.6TCOF1
4coloboma30.4TCOF1
5microtia30.3TCOF1
6n syndrome10.9
7familial treacher collins syndrome10.6
8treacher collins syndrome 110.6
9micro syndrome10.6
105q- syndrome10.6
11sleep apnea10.6
12mandibulofacial dysostosis, guion-almeida type10.6
13char syndrome10.6
14treacher collins syndrome 210.6
15x-linked mandibulofacial dysostosis10.5
16polr1d-related treacher collins syndrome10.5
17growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.5
18mandibulofacial dysostosis - macroblepharon - macrostomia10.5
19adult syndrome10.4
20arc syndrome10.4
21image syndrome10.4
22tcof1-related treacher collins syndrome10.4
23polr1c-related treacher collins syndrome10.4
24nager acrofacial dysostosis10.4
25amyoplasia mandibulofacial dysostosis10.4
26mandibulofacial dysostosis - lymphedema syndrome10.4
27alopecia10.3
28patterson stevenson syndrome10.3
29mandibulofacial dysostosis with microcephaly10.3
30adenoma10.3
31neurofibromatosis10.3
32diamond-blackfan anemia10.3
33angelman syndrome10.3
34klinefelter's syndrome10.3
35syndactyly10.3
36achalasia10.3
37otosclerosis10.3
38microcephaly10.3
39polyhydramnios10.3
40esophageal atresia10.3
41speech disorder10.3
42craniofacial microsomia10.3
43bod syndrome10.3
44pectus carinatum10.3
45palatopharyngeal incompetence10.3
46mass syndrome10.3
47congenital aural atresia10.3
48mental retardation10.3
49lateral facial dysplasia10.3
50cant� syndrome10.3

Graphical network of the top 20 diseases related to Treacher Collins Syndrome:



Diseases related to treacher collins syndrome

Clinical Features for Treacher Collins Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

154500,613717,248390

Drugs & Therapeutics for Treacher Collins Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Treacher Collins Syndrome

Drug clinical trials:

Search ClinicalTrials for Treacher Collins Syndrome

Search NIH Clinical Center for Treacher Collins Syndrome

Search CenterWatch for Treacher Collins Syndrome

Genetic Tests for Treacher Collins Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Treacher Collins Syndrome20 22 TCOF1

Anatomical Context for Treacher Collins Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Treacher Collins Syndrome:

33
Tongue

Animal Models for Treacher Collins Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Treacher Collins Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538110.4TCOF1, CDX1, NR3C1, PITX1, NDST1, PYGO2

Publications for Treacher Collins Syndrome

Sources:
51PubMed
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Articles related to Treacher Collins Syndrome:

(show top 50)    (show all 300)
idTitleAuthorsYear
1
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. (23615184)
2013
2
Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction. (23465636)
2013
3
Treacher Collins syndrome with microcornea and retinal detachment. (24336587)
2013
4
Re: Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. (23273823)
2013
5
A classification system to guide orbitozygomatic reconstruction in Treacher-Collins syndrome. (23481581)
2013
6
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
7
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. (22415350)
2012
8
Cervical spine in Treacher Collins syndrome. (22627438)
2012
9
Treacher collins syndrome. (23633935)
2012
10
Marathon of eponyms: 20 Treacher Collins syndrome. (21781229)
2011
11
Treacher Collins syndrome: etiology, pathogenesis and prevention. (19107148)
2009
12
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. (19050407)
2009
13
Use of GlideScope Ranger in the management of a child with Treacher Collins syndrome in a developing world setting. (19638114)
2009
14
Tracheal intubation using pediatric Airtraq optical laryngoscope in a patient with Treacher Collins syndrome. (19691702)
2009
15
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. (19334086)
2009
16
Airtraq laryngoscope for intubation in Treacher Collins syndrome. (19638116)
2009
17
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. (19572402)
2009
18
Staged reconstruction for adult complete Treacher Collins syndrome. (19816274)
2009
19
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. (18246078)
2008
20
Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. (18236814)
2007
21
Treacher Collins syndrome: case report and literature review]. (16981466)
2006
22
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. (16446903)
2005
23
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. (15759264)
2005
24
The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndrome. (12846711)
2003
25
Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome. (14570641)
2003
26
Hearing loss in the Treacher-Collins syndrome. (12408086)
2002
27
Co-occurrence of Down syndrome and Treacher-Collins syndrome. (12139573)
2002
28
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (9074926)
1997
29
Reactive perforating collagenosis in Treacher Collins syndrome. (8959959)
1996
30
Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. (8579653)
1995
31
Treacher Collins syndrome: otologic and auditory management. (7696682)
1995
32
Craniofacial morphology in Treacher Collins syndrome. (2069981)
1991
33
Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway. (1752006)
1991
34
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. (1676560)
1991
35
Familial Treacher-Collins syndrome. (3411217)
1988
36
Results of the Tessier integral procedure for correction of Treacher Collins syndrome. (3545545)
1986
37
Surface morphology in Treacher Collins syndrome: an anthropometric study. (3863724)
1985
38
Treacher Collins' syndrome. (7252192)
1980
39
Radiology of the ear in mandibulo-facial dysostosis--Treacher Collins syndrome. (452933)
1979
40
Mandibulo-facial dysostosis. (Treacher Collins Syndrome)--a case report. (5154238)
1971
41
Histopathology of the temporal bones in mandibulofacial dysostosis (Treacher-Collins syndrome). (5303735)
1968
42
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). (6024864)
1967
43
The Treacher Collins syndrome. Report of studies of an affected Negro infant, and survey of the literature. (6061355)
1967
44
THE TREACHER-COLLINS SYNDROME. (14216013)
1964
45
BERRY-TREACHER COLLINS SYNDROME: A REVIEW OF 200 CASES (MANDIBULO-FACIAL DYSOSTOSIS; FRANCESCHETTI-ZWAHLEN-KLEIN SYNDROMES). (14150863)
1964
46
Treacher-Collins syndrome (syn. mandibulo-facial dysostosis). (14036945)
1962
47
Otological observations on the "Treacher Collins syndrome". (13906637)
1962
48
Deafness and the Treacher Collins syndrome. (13908294)
1961
49
Mandibulofacial dysostosis (Treacher Collins syndrome). (14408937)
1960
50
Treacher Collins syndrome (dysostosis mandibulo-facialis). (15417344)
1950

Genetic Variations for Treacher Collins Syndrome

Expression for genes affiliated with Treacher Collins Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Treacher Collins Syndrome

Search GEO for disease gene expression data for Treacher Collins Syndrome.

Pathways for genes affiliated with Treacher Collins Syndrome

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database
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Compounds for genes affiliated with Treacher Collins Syndrome

Sources:
45Novoseek, 29IUPHAR
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Compounds related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna4510.5EEF1A1, TCOF1, POLR1C, FBL, UBTF
2glycyrrhizin45 2911.4NR3C1, CSNK2A2
3actinomycin d4510.4UBTF, FBL, NR3C1, POLR1C, NOLC1
4serine4510.3UBTF, CSNK2A2, FBL, NR3C1, POLR1C, TCOF1
5rapamycin4510.3UBTF, CSNK2A2, NR3C1, EEF1A1
65,6-dichloro-1-beta-d-ribofuranosylbenzimidazole4510.1POLR1C, CSNK2A2

GO Terms for genes affiliated with Treacher Collins Syndrome

Sources:
16Gene Ontology
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Cellular components related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase III complexGO:00566610.4POLR1C, POLR1D
2DNA-directed RNA polymerase I complexGO:00573610.1POLR1D, POLR1C
3nucleolusGO:00573010.1FBL, PPAN, PITX1, RPS14, NR3C1, EFTUD2

Biological processes related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase I promoterGO:00636210.5POLR1D, POLR1C, UBTF
2termination of RNA polymerase I transcriptionGO:00636310.5UBTF, POLR1C, POLR1D
3gene expressionGO:01046710.5EEF1A1, RPS14, UBTF, NR3C1, POLR1C, POLR1D
4termination of RNA polymerase III transcriptionGO:00638610.4POLR1D, POLR1C
5transcription initiation from RNA polymerase I promoterGO:00636110.4POLR1D, POLR1C, UBTF
6transcription from RNA polymerase I promoterGO:00636010.3UBTF, POLR1C, POLR1D
7transcription elongation from RNA polymerase III promoterGO:00638510.1POLR1D, POLR1C

Molecular functions related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:04698310.4POLR1D, POLR1C, NR3C1
2RNA polymerase I activityGO:00105410.3POLR1D, POLR1C
3RNA polymerase III activityGO:00105610.1POLR1D, POLR1C

Products for genes affiliated with Treacher Collins Syndrome

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Sources for Treacher Collins Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet