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
Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. (23352328)
2013
2
Treacher Collins syndrome: a case report. (23709540)
2013
3
Treacher Collins syndrome: sinus of Valsalva aneurysm. (23836833)
2013
4
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. (23664577)
2013
5
Multidisciplinary treatment approach in Treacher Collins syndrome. (22449504)
2012
6
Fishing the molecular bases of Treacher Collins syndrome. (22295061)
2012
7
Treacher Collins syndrome: a case review. (22123469)
2011
8
Perioperative airway management in a child with Treacher Collins syndrome. (19318301)
2009
9
Genital anomalies in a patient with Treacher Collins syndrome. (18627048)
2008
10
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. (17786119)
2007
11
A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome. (16641628)
2006
12
Prosthetic management of a patient with Treacher Collins syndrome. (17051873)
2006
13
Facial nerve palsy: a complication following anaesthesia in a child with Treacher Collins syndrome. (15200660)
2004
14
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. (15534141)
2004
15
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. (15150774)
2004
16
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. (14598341)
2003
17
Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report. (12859108)
2003
18
Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans. (14597369)
2003
19
Antenatal three-dimensional sonographic features of Treacher Collins syndrome. (11952977)
2002
20
Treacher Collins syndrome (mandibulofacial dysostosis). (12438872)
2002
21
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. (10888597)
2000
22
Treacher Collins syndrome with acute airway obstruction. (10960695)
2000
23
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. (9736782)
1998
24
Treacher Collins syndrome: from linkage to prenatal testing. (9850311)
1998
25
Treacher Collins syndrome: perspectives in evaluation and treatment. (9331237)
1997
26
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. (8894686)
1996
27
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. (7489423)
1995
28
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. (7489482)
1995
29
Ear malformation and hearing loss in patients with Treacher Collins syndrome. (8418881)
1993
30
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. (8217543)
1993
31
Imaging of ear deformities in Treacher Collins syndrome. (8877182)
1993
32
Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. (8218033)
1993
33
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. (1303194)
1992
34
Prenatal diagnosis by isoenzymic differentiation of Treacher Collins' syndrome induced by retinoids in rats. (2177918)
1990
35
Detailed morphometry of the nose in patients with Treacher Collins syndrome. (2735721)
1989
36
Treacher-Collins syndrome: an association with polyhydramnios. (3141842)
1988
37
Treacher-Collins syndrome and neurofibromatosis. (3084396)
1986
38
Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis. (544686)
1979
39
Pharyngeal hypoplasia in Treacher Collins syndrome. (420650)
1979
40
An atypical case of Treacher Collins syndrome. (710339)
1978
41
Endotracheal Intubation and Treacher-Collins syndrome. (1267894)
1976
42
Treacher Collins syndrome. (1227557)
1975
43
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). (807232)
1975
44
Treacher-Collins syndrome. Report of 3 cases. (5257813)
1967
45
A case report of Treacher Collins syndrome. (13895728)
1961
46
Mandibulofacial dysostosis (Treacher Collins syndrome). (13521108)
1958
47
The Treacher Collins syndrome. (13209017)
1954
48
The Treacher-Collins syndrome. (13125924)
1953
49
Choanal atresia-a manifestation of the Treacher Collins' syndrome. (13069884)
1953
50
Treacher Collins syndrome (dysostosis mandibulofacialis). (14927969)
1952

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