MCID: TRC072
MIFTS: 61

Treacher Collins Syndrome 1

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 53 71 28 13
Treacher Collins Syndrome 53 12 72 23 49 24 71 36 28 51 14
Mandibulofacial Dysostosis 53 12 23 49 24 71 41
Treacher Collins-Franceschetti Syndrome 53 23 49 24 71
Tcof 53 49 71
Mfd1 53 49 71
Tcs 53 49 71
Franceschetti-Klein Syndrome 55 69
Tcs1 53 71
Mandibulofacial Dysostosis Without Limb Anomalies 55
Treacher Collins-Franceschetti Syndrome; Tcof 53
Franceschetti-Zwahlen-Klein Syndrome 24
Mandibulofacial Dysostosis; Mfd1 53
Treacher Collins Syndrome; Tcs 53
Zygoauromandibular Dysplasia 24
Treacher-Collins Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance of pathogenic variants associated with tcs is high, but cases of non-penetrance have been reported...

Classifications:



Summaries for Treacher Collins Syndrome 1

NIH Rare Diseases : 49 Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms 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 the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown. Last updated: 11/11/2015

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and dysostosis, and has symptoms including malar flattening, hypertelorism and frontal bossing. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and RNA polymerase. Affiliated tissues include bone, eye and skin, and related phenotype is Decreased viability of wild-type and TP53 knockout cells.

OMIM : 53 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). (154500)

UniProtKB/Swiss-Prot : 71 Treacher Collins syndrome 1: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Genetics Home Reference : 24 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of 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). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

GeneReviews: NBK1532

Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

Diseases related to Treacher Collins Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 228)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 32.0 DHODH EFTUD2 SF3B4 TXNL4A VWA1
2 dysostosis 30.3 DHODH EFTUD2 POLR1A SF3B4
3 mandibulofacial dysostosis, guion-almeida type 12.7
4 mandibulofacial dysostosis with alopecia 12.7
5 split-foot deformity with mandibulofacial dysostosis 12.4
6 diamond-blackfan anemia 15 with mandibulofacial dysostosis 12.4
7 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.4
8 mandibulofacial dysostosis with macroblepharon and macrostomia 12.3
9 branchial arch syndrome, x-linked 12.2
10 mandibulofacial dysostosis with mental retardation 12.1
11 mandibulofacial dysostosis syndrome, bauru type 12.1
12 mandibulofacial dysostosis with ptosis, autosomal dominant 12.1
13 amyoplasia mandibulofacial dysostosis 12.1
14 acrofacial dysostosis, catania type 11.6
15 acrofacial dysostosis, cincinnati type 11.6
16 acrofacial dysostosis syndrome of rodriguez 11.5
17 transcobalamin deficiency 11.1
18 tethered spinal cord syndrome 11.0
19 treacher collins syndrome 3 10.9
20 treacher collins syndrome 2 10.9
21 transcobalamin ii deficiency 10.9
22 uv-sensitive syndrome 1 10.9
23 cerebrooculofacioskeletal syndrome 4 10.9
24 uv-sensitive syndrome 2 10.9
25 uv-sensitive syndrome 3 10.9
26 microtia 10.1 HOXA2 TCOF1
27 hyperparathyroidism 10.0
28 thyroiditis 10.0
29 hepatitis 10.0
30 adenoma 10.0
31 parathyroid adenoma 10.0
32 choanal atresia, posterior 10.0 EFTUD2 TXNL4A
33 lymphoma 9.9
34 primary hyperparathyroidism 9.9
35 pyelonephritis 9.8
36 pol iii-related leukodystrophies 9.8 POLR1C POLR3B
37 lung cancer 9.8
38 aging 9.8
39 hematopoietic stem cell transplantation 9.8
40 orchitis 9.8
41 acute pyelonephritis 9.8
42 neural tube defects 9.7
43 neural tube defects, folate-sensitive 9.7
44 leukemia 9.7
45 colitis 9.7
46 spina bifida occulta 9.7
47 sarcoma 9.7
48 graves' disease 9.7
49 cerebritis 9.7
50 erdheim-chester disease 9.7

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:



Diseases related to Treacher Collins Syndrome 1

Symptoms & Phenotypes for Treacher Collins Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures
partial absence of lower eyelashes

Head And Neck Mouth:
macrostomia
mandibular hypoplasia
cleft palate (rare)
palatopharyngeal incompetence

Head And Neck Ears:
hearing loss, conductive
malformation of auricle
ear tags
blind fistulas

Head And Neck Face:
malar hypoplasia
projection of scalp hair onto the lateral cheek


Clinical features from OMIM:

154500

Human phenotypes related to Treacher Collins Syndrome 1:

55 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 very rare (1%) Very frequent (99-80%) HP:0000272
2 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
3 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
4 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
5 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 dysphasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002357
8 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
10 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
11 open bite 55 31 hallmark (90%) Very frequent (99-80%) HP:0010807
12 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
13 microtia 55 31 frequent (33%) Frequent (79-30%) HP:0008551
14 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
15 brachycephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000248
16 glossoptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000162
17 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 micrognathia 55 31 very rare (1%) Very frequent (99-80%) HP:0000347
19 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
20 strabismus 55 31 very rare (1%) Frequent (79-30%) HP:0000486
21 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
22 cryptorchidism 55 31 very rare (1%) Occasional (29-5%) HP:0000028
23 wide mouth 55 31 very rare (1%) Occasional (29-5%) HP:0000154
24 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
25 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
26 downslanted palpebral fissures 55 31 very rare (1%) Very frequent (99-80%) HP:0000494
27 narrow mouth 55 31 very rare (1%) Occasional (29-5%) HP:0000160
28 conductive hearing impairment 55 31 very rare (1%) Frequent (79-30%) HP:0000405
29 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
30 hypoplasia of the thymus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000778
31 choanal atresia 55 31 very rare (1%) Occasional (29-5%) HP:0000453
32 reduced number of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0009804
33 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
34 low anterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0000294
35 tracheoesophageal fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0002575
36 abnormality of dental morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0006482
37 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
38 multiple enchondromatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0005701
39 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
40 preauricular skin tag 55 31 very rare (1%) Occasional (29-5%) HP:0000384
41 abnormality of bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004348
42 rectovaginal fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000143
43 cleft upper lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000204
44 blepharospasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0000643
45 narrow internal auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0011386
46 encephalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002084
47 scrotal hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000046
48 absent eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000561
49 abnormality of the adrenal glands 55 31 occasional (7.5%) Occasional (29-5%) HP:0000834
50 abnormality of the vertebral column 55 31 occasional (7.5%) Occasional (29-5%) HP:0000925

GenomeRNAi Phenotypes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.02 EFTUD2 POLR1A POLR1C SF3B4 WDR43

Drugs & Therapeutics for Treacher Collins Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
5 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
6 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463
7 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312

Search NIH Clinical Center for Treacher Collins Syndrome 1

Cochrane evidence based reviews: mandibulofacial dysostosis

Genetic Tests for Treacher Collins Syndrome 1

Genetic tests related to Treacher Collins Syndrome 1:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 28
2 Treacher Collins Syndrome 1 28 TCOF1

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

38
Bone, Eye, Skin, Heart, Thyroid, Thymus, Adrenal Gland

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 321)
# Title Authors Year
1
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
2
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. ( 27300466 )
2016
3
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
4
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. ( 27711076 )
2016
5
Neonatal mandibular distraction in a patient with Treacher Collins syndrome. ( 25569412 )
2015
6
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ( 25790162 )
2015
7
Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of Glidescope(Ar) videolaryngoscope". ( 25530430 )
2015
8
Reply to the letter on the article A<Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of GlideScope(Ar) videolaryngoscope"A>. ( 25530432 )
2015
9
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. ( 25348728 )
2015
10
Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. ( 25626822 )
2015
11
Nasal sequelae of Treacher Collins syndrome. ( 25862218 )
2015
12
Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study. ( 25344415 )
2014
13
Surgical treatment of scoliosis in Treacher Collins syndrome: a case report. ( 25524572 )
2014
14
Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report. ( 24783649 )
2014
15
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response. ( 25512513 )
2014
16
Treacher Collins syndrome: a case study. ( 25439217 )
2014
17
Associations between speech features and phenotypic severity in Treacher Collins syndrome. ( 24775909 )
2014
18
Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report. ( 25379503 )
2014
19
Successful intubation using McGRATH MAC in a patient with Treacher Collins syndrome. ( 25137871 )
2014
20
The surgical management of Treacher Collins syndrome. ( 24776174 )
2014
21
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. ( 24603435 )
2014
22
Easy airway management using the i-gela8c supraglottic airway in a patient with Treacher Collins syndrome. ( 25598889 )
2014
23
A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. ( 24994558 )
2014
24
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
25
Cholesteatoma of the hypotympanum in a patient with Treacher Collins syndrome. ( 23860365 )
2014
26
Treacher Collins Syndrome: the genetics of a craniofacial disease. ( 24690222 )
2014
27
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. ( 23695276 )
2014
28
Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. ( 23352328 )
2013
29
Treacher Collins syndrome: a case report. ( 23709540 )
2013
30
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. ( 24288143 )
2013
31
Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction. ( 23465636 )
2013
32
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. ( 23455582 )
2013
33
A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome. ( 22917695 )
2013
34
Changing the Facial Features of Patients With Treacher Collins Syndrome: Protocol for 3-Stage Treatment of Hard and Soft Tissue Hypoplasia in the Upper Half of the Face. ( 23511742 )
2013
35
Two extraordinarily severe cases of Treacher Collins syndrome. ( 23401420 )
2013
36
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. ( 23664577 )
2013
37
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. ( 24108658 )
2013
38
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. ( 23653874 )
2013
39
Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. ( 24165631 )
2013
40
Computer-assisted midface reconstruction in Treacher Collins syndrome part 1: skeletal reconstruction. ( 23454266 )
2013
41
Re: Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. ( 23273823 )
2013
42
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. ( 23615184 )
2013
43
Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. ( 23851757 )
2013
44
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. ( 23838542 )
2013
45
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. ( 23036831 )
2013
46
Treacher Collins syndrome: sinus of Valsalva aneurysm. ( 23836833 )
2013
47
A case of treacher collins syndrome. ( 24778568 )
2013
48
A range of condylar hypoplasia exists in Treacher Collins syndrome. ( 22766383 )
2013
49
Treacher Collins syndrome with microcornea and retinal detachment. ( 24336587 )
2013
50
A classification system to guide orbitozygomatic reconstruction in Treacher-Collins syndrome. ( 23481581 )
2013

Variations for Treacher Collins Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 TCOF1 p.Trp53Arg VAR_005630

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCOF1 NM_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587777313 GRCh38 Chromosome 5, 150375487: 150375490
2 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
3 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh38 Chromosome 5, 150398376: 150398376
4 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh37 Chromosome 5, 149753851: 149753851
5 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh38 Chromosome 5, 150368759: 150368759
6 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh38 Chromosome 5, 150368834: 150368837
7 TCOF1 NM_000356.3(TCOF1): c.4138_4142delAAGAA (p.Lys1380Glufs) deletion Pathogenic rs587776582 GRCh38 Chromosome 5, 150398380: 150398384
8 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh37 Chromosome 5, 149740759: 149740759
9 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375489: 150375490
10 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh37 Chromosome 5, 149767567: 149767567
11 TCOF1 NM_000356.3(TCOF1): c.376_378+15del18 deletion Pathogenic rs587776584 GRCh38 Chromosome 5, 150367915: 150367932
12 TCOF1 NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs) deletion Pathogenic rs797046037 GRCh38 Chromosome 5, 150368723: 150368724
13 TCOF1 NM_001135244.1(TCOF1): c.1705G> A (p.Glu569Lys) single nucleotide variant Likely pathogenic rs764314276 GRCh38 Chromosome 5, 150375721: 150375721
14 TCOF1 NM_001135243.1(TCOF1): c.4365dup (p.Glu1456Argfs) duplication Pathogenic GRCh38 Chromosome 5, 150398376: 150398376
15 TCOF1 NC_000005.10: g.(?_150396282)_(150399070_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 150396282: 150399070
16 TCOF1 NM_001135243.1(TCOF1): c.2285_2286delCT (p.Ser762Terfs) deletion Pathogenic GRCh37 Chromosome 5, 149756128: 149756129
17 TCOF1 NM_001135243.1(TCOF1): c.2796_2797delAG (p.Gly933Glufs) deletion Pathogenic GRCh37 Chromosome 5, 149759232: 149759233
18 TCOF1 NM_001135243.1(TCOF1): c.2146_2147delAA (p.Lys716Valfs) deletion Pathogenic GRCh37 Chromosome 5, 149755989: 149755990
19 TCOF1 NM_001135243.1(TCOF1): c.4406_4407delCT (p.Ser1469Terfs) deletion Pathogenic GRCh38 Chromosome 5, 150398417: 150398418

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 195281 5 149717427 149760064 Microdeletions TCOF1 Treacher Collins syndrome

Expression for Treacher Collins Syndrome 1

Search GEO for disease gene expression data for Treacher Collins Syndrome 1.

Pathways for Treacher Collins Syndrome 1

Pathways related to Treacher Collins Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008
2 RNA polymerase hsa03020

GO Terms for Treacher Collins Syndrome 1

Cellular components related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 EFTUD2 HOXA2 PLCB4 POLI POLR1A POLR1C
2 spliceosomal complex GO:0005681 9.54 EFTUD2 SF3B4 TXNL4A
3 U4/U6 x U5 tri-snRNP complex GO:0046540 9.32 EFTUD2 TXNL4A
4 nucleoplasm GO:0005654 9.32 DHODH EFTUD2 POLI POLR1A POLR1C POLR3B
5 DNA-directed RNA polymerase III complex GO:0005666 9.26 POLR1C POLR3B
6 DNA-directed RNA polymerase I complex GO:0005736 9.16 POLR1A POLR1C

Biological processes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase III GO:0006383 9.4 POLR1C POLR3B
2 transcription initiation from RNA polymerase I promoter GO:0006361 9.37 POLR1A POLR1C
3 termination of RNA polymerase I transcription GO:0006363 9.32 POLR1A POLR1C
4 transcription elongation from RNA polymerase I promoter GO:0006362 9.26 POLR1A POLR1C
5 RNA splicing, via transesterification reactions GO:0000375 9.16 SF3B4 TXNL4A
6 neural crest cell development GO:0014032 8.96 KBTBD8 TCOF1
7 neural crest formation GO:0014029 8.62 KBTBD8 TCOF1

Molecular functions related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III activity GO:0001056 9.26 POLR1C POLR3B
2 RNA polymerase I activity GO:0001054 9.16 POLR1A POLR1C
3 nucleotidyltransferase activity GO:0016779 9.13 POLI POLR1A POLR3B
4 DNA-directed 5-3 RNA polymerase activity GO:0003899 8.92 POLR1A POLR1C POLR1D POLR3B

Sources for Treacher Collins Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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