TCS
MCID: TRC011
MIFTS: 53

Treacher Collins Syndrome (TCS) malady

Summaries for Treacher Collins Syndrome

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 choanal atresia. 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 bone, testes and tongue, and related mouse phenotype digestive/alimentary.

Description from OMIM:46 154500,613717,248390

GeneReviews summary for tcs

Aliases & Classifications for Treacher Collins Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 46OMIM, 34MeSH, 56SNOMED-CT, 60UMLS, 39NCIt
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Aliases & Descriptions:

treacher collins syndrome 8 63 19 42 20 22 21 10 44
mandibulofacial dysostosis 8 19 42 21
treacher collins-franceschetti syndrome 19 42 21
franceschetti-zwahlen-klein syndrome 21
zygoauromandibular dysplasia 21
franceschetti syndrome 8
tcof 42
mfd1 42
tcs 42


External Ids:

Disease Ontology8 DOID:2908
NCIt39 C75018

Related Diseases for Treacher Collins Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Treacher Collins Syndrome 3 family:

treacher collins syndrome Familial Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome Polr1c-Related Treacher Collins Syndrome
Polr1d-Related 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 223)
idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 331.0POLR1C
2choanal atresia30.8TCOF1, EFTUD2
3cleft palate30.6TCOF1
4goldenhar syndrome30.5TCOF1
5coloboma30.3TCOF1
6microtia30.3TCOF1
7dysostosis11.0
8laryngitis10.7
9image syndrome10.6
10mandibulofacial dysostosis, guion-almeida type10.6
11treacher collins syndrome 110.5
12treacher collins syndrome 210.5
13x-linked mandibulofacial dysostosis10.5
14nager acrofacial dysostosis10.5
15familial treacher collins syndrome10.5
16polr1d-related treacher collins syndrome10.5
17growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.4
18adult syndrome10.4
19n syndrome10.4
20tcof1-related treacher collins syndrome10.4
21polr1c-related treacher collins syndrome10.4
22amyoplasia mandibulofacial dysostosis10.4
23mandibulofacial dysostosis - macroblepharon - macrostomia10.4
24hepatitis10.3
25alopecia10.3
26patterson stevenson syndrome10.3
27mandibulofacial dysostosis with microcephaly10.3
28adenoma10.3
29hyperparathyroidism10.3
30neurofibromatosis10.2
31diamond-blackfan anemia10.2
32angelman syndrome10.2
33syndactyly10.2
34achalasia10.2
35otosclerosis10.2
36pharyngitis10.2
37microcephaly10.2
38polyhydramnios10.2
39esophageal atresia10.2
40down syndrome10.2
41cataract10.2
42cervicitis10.2
43cholesteatoma10.2
44chromosomal disease10.2
45craniosynostosis10.2
46dermatomyositis10.2
47esophagitis10.2
48intellectual disability10.2
49retinal detachment10.2
50retinitis10.2

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



Diseases related to treacher collins syndrome

Clinical Features for Treacher Collins Syndrome

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46OMIM
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Clinical features from OMIM:

154500,613717,248390

Drugs & Therapeutics for Treacher Collins Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Treacher Collins Syndrome:

32
Bone, Testes, Tongue

Animal Models for Treacher Collins Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Treacher Collins Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538110.4TCOF1, CDX1, NR3C1, PITX1, NDST1, PYGO2

Publications for Treacher Collins Syndrome

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50PubMed
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Articles related to Treacher Collins Syndrome:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. (23838542)
2013
2
Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. (23851757)
2013
3
A range of condylar hypoplasia exists in Treacher Collins syndrome. (22766383)
2013
4
Orofacial functions and oral health associated with Treacher Collins syndrome. (22783882)
2013
5
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. (23036831)
2013
6
Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. (24165631)
2013
7
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. (24108658)
2013
8
Two extraordinarily severe cases of Treacher Collins syndrome. (23401420)
2013
9
Screening for obstructive sleep apnea in Treacher-Collins syndrome. (22374652)
2012
10
Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. (22521672)
2012
11
Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome. (23168240)
2012
12
Treacher Collins syndrome. (22144845)
2011
13
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (21131976)
2011
14
Interim obturator in an infant with Treacher Collins syndrome: Review and chairside modification in impression making. (22346164)
2011
15
CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping. (19844817)
2010
16
Treacher-collins syndrome-a challenge for anaesthesiologists. (20640217)
2009
17
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. (18683396)
2008
18
Orotracheal intubation with an AirWay Scope in a patient with Treacher Collins syndrome. (18500620)
2008
19
Orthodontic treatment for a patient with Treacher-Collins syndrome: a case report. (19641756)
2008
20
New grading system for patients with treacher Collins syndrome. (17251848)
2007
21
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. (16801042)
2006
22
Surgical treatment of Treacher Collins syndrome. (16641634)
2006
23
Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndrome. (17233367)
2006
24
Invited discussion: Surgical treatment of Treacher Collins syndrome. (16641635)
2006
25
Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndrome. (15083022)
2004
26
Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]. (14531285)
2003
27
Increased fistula risk following palatoplasty in Treacher Collins syndrome. (12733957)
2003
28
Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies. (11914220)
2002
29
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. (11013442)
2000
30
Treacher-Collins syndrome and co-existing dermatomyositis. (9475567)
1998
31
Treacher Collins syndrome. (8875242)
1996
32
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. (8741923)
1996
33
Treacher Collins syndrome. (7582373)
1995
34
Ear surgery in Treacher Collins syndrome. (7832540)
1995
35
Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. (7727483)
1995
36
Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. (8031974)
1994
37
Treacher Collins syndrome: correlation between clinical and genetic linkage studies. (8055143)
1994
38
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. (8276417)
1993
39
Nasotracheal intubation in a child with Treacher Collins syndrome using the Bullard intubating laryngoscope. (8123276)
1993
40
Treacher Collins Syndrome (20301704)
1993
41
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. (1765376)
1991
42
Ocular findings in Treacher Collins syndrome. (2396653)
1990
43
Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery. (3690093)
1987
44
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. (3474899)
1987
45
Tracheal intubation in an infant with Treacher-Collins syndrome--pulling out the tongue by a forceps. (3970385)
1985
46
The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. (6387737)
1984
47
Treacher-Collins syndrome with sleep apnea: anesthetic considerations. (6419642)
1984
48
Ketamine for induction and intubation in Treacher-Collins syndrome. (7212231)
1981
49
The surgical treatment of mandibulofacial dysostosis (Berry syndrome; Treacher Collins syndrome; Franceschetti-Zwahlen-Klein syndrome). (789000)
1976
50
Cephalometric analysis of Berry-Treacher Collins syndrome. (4864186)
1967

Genetic Variations for Treacher Collins Syndrome

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Expression for genes affiliated with Treacher Collins Syndrome

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

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Pathways for genes affiliated with Treacher Collins Syndrome

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53Reactome, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database
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Compounds for genes affiliated with Treacher Collins Syndrome

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44Novoseek, 28IUPHAR
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Compounds related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna4410.5EEF1A1, TCOF1, POLR1C, FBL, UBTF
2glycyrrhizin44 2811.4NR3C1, CSNK2A2
3actinomycin d4410.4UBTF, FBL, NR3C1, POLR1C, NOLC1
4serine4410.3UBTF, CSNK2A2, FBL, NR3C1, POLR1C, TCOF1
5rapamycin4410.3UBTF, CSNK2A2, NR3C1, EEF1A1
65,6-dichloro-1-beta-d-ribofuranosylbenzimidazole4410.1POLR1C, CSNK2A2

GO Terms for genes affiliated with Treacher Collins Syndrome

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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:00566610.4POLR1D, POLR1C
2DNA-directed RNA polymerase I complexGO:00573610.1POLR1D, POLR1C
3nucleolusGO:00573010.1NOLC1, RPS14, UBTF, PPAN, PITX1, FBL

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet