TCS
MCID: TRC011
MIFTS: 58

Treacher Collins Syndrome (TCS) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Summaries for Treacher Collins Syndrome

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NIH Rare Diseases:42 Treacher collins syndrome (tcs) 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 people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). other features may include cleft palate, eye abnormalities, and hearing loss. tcs may be caused by mutations in the tcof1, polr1c, or polr1d genes. when it is due to the tcof1 or polr1d gene, it is inherited in an autosomal dominant manner. about 60% of these cases are due to a new mutation in the gene and are not inherited from a parent. when it is due to the polr1c gene, it is inherited in an autosomal recessive manner. in some cases, the genetic cause of the condition is unknown. last updated: 10/27/2014

MalaCards based summary: Treacher Collins Syndrome, also known as mandibulofacial dysostosis, is related to treacher collins syndrome 3 and treacher collins syndrome 2. An important gene associated with Treacher Collins Syndrome is TCOF1 (Treacher Collins-Franceschetti syndrome 1), and among its related pathways are Cytosolic sensors of pathogen-associated DNA and RNA Polymerase III Transcription Initiation. The compounds Uridine triphosphate and Cytidine triphosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related mouse phenotypes are nervous system and craniofacial.

Descriptions from OMIM:46 613717,248390,154500

GeneReviews summary for tcs

Aliases & Classifications for Treacher Collins Syndrome

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Treacher Collins Syndrome, Aliases & Descriptions:

Name: Treacher Collins Syndrome 8 65 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


Classifications:



External Ids:

Disease Ontology8 DOID:2908
NCIt39 C75018

Related Diseases for Treacher Collins Syndrome

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Diseases in the Treacher Collins Syndrome 1 family:

treacher collins syndrome Familial Treacher Collins Syndrome
Treacher Collins Syndrome 3 Tcof1-Related Treacher Collins Syndrome
Polr1c-Related Treacher Collins Syndrome Polr1d-Related Treacher Collins Syndrome
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 241)
idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 331.4POLR1C
2treacher collins syndrome 231.2POLR1D
3treacher collins syndrome 130.4NDST1, NR3C1, TCOF1, POLR1D, HLA-DPB2
4dysostosis11.0
5mandibulofacial dysostosis with microcephaly10.9
6laryngitis10.8
7choanal atresia10.6
8sleep apnea10.6
9familial treacher collins syndrome10.6
10obstructive sleep apnea10.6
11nager acrofacial dysostosis10.6
12x-linked mandibulofacial dysostosis10.6
13growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.5
14goldenhar syndrome10.4
15tcof1-related treacher collins syndrome10.4
16microtia10.4
17polr1c-related treacher collins syndrome10.4
18polr1d-related treacher collins syndrome10.4
19amyoplasia mandibulofacial dysostosis10.4
20mandibulofacial dysostosis - macroblepharon - macrostomia10.4
21hepatitis10.4
22alopecia10.3
23patterson stevenson syndrome10.3
24hyperparathyroidism10.3
25cataract10.3
26craniosynostosis10.3
27diamond-blackfan anemia10.3
28ectodermal dysplasia10.3
29schizophrenia10.3
30pharyngitis10.3
31down syndrome10.3
32angelman syndrome10.3
33cherubism10.3
34cleft palate10.3
35coloboma10.3
36achalasia10.3
37otosclerosis10.3
38neurofibromatosis10.3
39microcephaly10.3
40polyhydramnios10.3
41syndactyly10.3
42cervicitis10.3
43cholesteatoma10.3
44dermatomyositis10.3
45esophagitis10.3
46retinal detachment10.3
47retinitis10.3
48speech disorder10.3
49craniofacial microsomia10.3
50oculo-auriculo-vertebral spectrum10.3

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



Diseases related to treacher collins syndrome

Symptoms for Treacher Collins Syndrome

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Clinical features from OMIM:

613717,248390,154500

Drugs & Therapeutics for Treacher Collins Syndrome

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Drug clinical trials:

Search ClinicalTrials for Treacher Collins Syndrome

Search NIH Clinical Center for Treacher Collins Syndrome

Genetic Tests for Treacher Collins Syndrome

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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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MalaCards organs/tissues related to Treacher Collins Syndrome:

32
Bone, Eye, Testes, Heart, Tongue

Animal Models for Treacher Collins Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Treacher Collins Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4NDST1, NR3C1, TCOF1, TUBA1A, PITX1
2MP:00053828.4PITX1, TCOF1, NDST1, CDX1
3MP:00053818.3CDX1, NDST1, NR3C1, TCOF1, PITX1
4MP:00053798.2PITX1, TCOF1, NR3C1, NDST1, CDX1
5MP:00053908.1PITX1, TCOF1, NR3C1, NDST1, CDX1

Publications for Treacher Collins Syndrome

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Articles related to Treacher Collins Syndrome:

(show top 50)    (show all 306)
idTitleAuthorsYear
1
The surgical management of Treacher Collins syndrome. (24776174)
2014
2
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. (23695276)
2014
3
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. (23615184)
2013
4
Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. (23352328)
2013
5
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. (23838542)
2013
6
Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. (23851757)
2013
7
An analysis of mandibular volume in treacher collins syndrome. (22456407)
2012
8
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
9
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. (22415350)
2012
10
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. (22729243)
2012
11
Screening for obstructive sleep apnea in Treacher-Collins syndrome. (22374652)
2012
12
Treacher Collins syndrome: a case review. (22123469)
2011
13
Inadvertent intracranial insertion of a soft rubber tube in a patient with Treacher-Collins syndrome: case report and review of literature. (18188571)
2008
14
A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. (18317089)
2008
15
The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndrome. (17717215)
2007
16
The Laryngeal Mask Airway for exchange of a nasal for an orotracheal tube in a patient with Treacher Collins syndrome. (17967679)
2007
17
Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. (16632269)
2006
18
A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome. (16641628)
2006
19
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. (16801042)
2006
20
Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. (16125876)
2005
21
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. (16446903)
2005
22
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. (15039977)
2004
23
Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndrome. (15083022)
2004
24
Treacher Collins syndrome with choanal atresia: one way to handle the airway. (15283837)
2004
25
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (15340364)
2004
26
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. (12939661)
2003
27
Antenatal three-dimensional sonographic features of Treacher Collins syndrome. (11952977)
2002
28
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. (8276417)
1993
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
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. (1765376)
1991
32
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. (1684950)
1991
33
Craniofacial morphology in Treacher Collins syndrome. (2069981)
1991
34
Familial Treacher-Collins syndrome. (3411217)
1988
35
Treacher-Collins syndrome: an association with polyhydramnios. (3141842)
1988
36
Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery. (3690093)
1987
37
The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. (6387737)
1984
38
Spinal dysplasia in Treacher Collins syndrome: a case report. (7178993)
1982
39
Atypical unilateral Treacher Collins syndrome. (7400595)
1980
40
Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis. (544686)
1979
41
Treacher Collins syndrome: (a case report). (711306)
1978
42
Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). (264276)
1977
43
Mandibulofacial dysostosis (Treacher--Collins syndrome). (903733)
1977
44
Cephalometric analysis of Berry-Treacher-Collins syndrome. (5226439)
1967
45
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). (6024864)
1967
46
FAMILIAL TREACHER COLLINS SYNDROME. REPORT OF FOUR CASES. (14338135)
1965
47
THE TREACHER COLLINS SYNDROME. (14126277)
1964
48
Treacher Collins syndrome. An anaesthetic hazard. (13975083)
1963
49
Mandibulofacial dysostosis (Treacher Collins syndrome). (14408937)
1960
50
Treacher Collins syndrome (dysostosis mandibulo-facialis). (15417344)
1950

Variations for Treacher Collins Syndrome

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Expression for genes affiliated with Treacher Collins Syndrome

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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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Pathways related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8POLR1C, POLR1D
2
Show member pathways
9.8POLR1C, POLR1D
3
Show member pathways
9.8POLR1C, POLR1D

Compounds for genes affiliated with Treacher Collins Syndrome

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Sources:
24HMDB, 44Novoseek
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Compounds related to Treacher Collins Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Uridine triphosphate249.8POLR1C, POLR1D
2Cytidine triphosphate249.7POLR1C, POLR1D
3rrna449.5TCOF1, POLR1C
4Guanosine triphosphate249.4POLR1C, POLR1D, TUBA1A

GO Terms for genes affiliated with Treacher Collins Syndrome

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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:0056669.8POLR1C, POLR1D
2DNA-directed RNA polymerase I complexGO:0057369.5POLR1C, POLR1D

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:00638510.0POLR1C, POLR1D
2termination of RNA polymerase III transcriptionGO:00638610.0POLR1C, POLR1D
3transcription elongation from RNA polymerase I promoterGO:0063629.9POLR1C, POLR1D
4termination of RNA polymerase I transcriptionGO:0063639.9POLR1C, POLR1D
5transcription initiation from RNA polymerase I promoterGO:0063619.8POLR1D, POLR1C
6positive regulation of type I interferon productionGO:0324819.8POLR1C, POLR1D
7transcription from RNA polymerase I promoterGO:0063609.7POLR1C, POLR1D
8transcription from RNA polymerase III promoterGO:0063839.5POLR1C, POLR1D

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase III activityGO:0010569.8POLR1C, POLR1D
2RNA polymerase I activityGO:0010549.7POLR1C, POLR1D
3protein dimerization activityGO:0469839.1NR3C1, POLR1C, POLR1D

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet