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 57 75 29 13 6
Treacher Collins Syndrome 57 12 76 24 53 25 75 37 29 55 6 15
Mandibulofacial Dysostosis 57 12 53 25 75 6 44
Treacher Collins-Franceschetti Syndrome 57 53 25 75
Tcof 57 53 75
Mfd1 57 53 75
Tcs 57 53 75
Franceschetti-Klein Syndrome 59 73
Tcs1 57 75
Mandibulofacial Dysostosis Without Limb Anomalies 59
Treacher Collins-Franceschetti Syndrome; Tcof 57
Franceschetti-Zwahlen-Klein Syndrome 25
Treacher Collins Syndrome, Type 1 40
Mandibulofacial Dysostosis; Mfd1 57
Treacher Collins Syndrome; Tcs 57
Zygoauromandibular Dysplasia 25
Treacher-Collins Syndrome 59
Franceschetti Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Treacher Collins Syndrome 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and dysostosis. 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 heart, and related phenotypes are malar flattening and hypertelorism

Genetics Home Reference : 25 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.

OMIM : 57 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 : 75 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.

Wikipedia : 76 Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews:

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 239)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 31.7 DHODH EFTUD2 SF3B4 TXNL4A VWA1
2 dysostosis 30.2 DHODH EFTUD2 POLR1A SF3B4
3 mandibulofacial dysostosis, guion-almeida type 12.7
4 mandibulofacial dysostosis with alopecia 12.7
5 diamond-blackfan anemia 15 with mandibulofacial dysostosis 12.4
6 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.4
7 split-foot deformity 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 acrofacial dysostosis, catania type 11.6
14 oculoauricular syndrome 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 uv-sensitive syndrome 10.9
27 microtia 10.3 HOXA2 TCOF1
28 choanal atresia, posterior 10.3 EFTUD2 TXNL4A
29 pol iii-related leukodystrophies 10.2 POLR1C POLR3B
30 thyroiditis 10.1
31 hyperparathyroidism 10.0
32 breast cancer 10.0
33 adenoma 10.0
34 hepatitis 10.0
35 parathyroid adenoma 10.0
36 primary hyperparathyroidism 9.9
37 lymphoma 9.9
38 lung cancer 9.8
39 hematopoietic stem cell transplantation 9.8
40 pyelonephritis 9.8
41 cerebritis 9.8
42 aging 9.8
43 leukemia 9.8
44 orchitis 9.8
45 acute pyelonephritis 9.8
46 neural tube defects 9.7
47 neural tube defects, folate-sensitive 9.7
48 colitis 9.7
49 spina bifida occulta 9.7
50 sarcoma 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:

57
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:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 very rare (1%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
6 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
7 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
8 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
9 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
10 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
11 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
12 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
13 microtia 59 32 very rare (1%) Frequent (79-30%) HP:0008551
14 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
15 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
16 glossoptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000162
17 cleft palate 59 32 very rare (1%) Occasional (29-5%) HP:0000175
18 micrognathia 59 32 very rare (1%) Very frequent (99-80%) HP:0000347
19 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
20 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
21 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
24 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
25 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
26 downslanted palpebral fissures 59 32 very rare (1%) Very frequent (99-80%) HP:0000494
27 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
28 conductive hearing impairment 59 32 very rare (1%) Frequent (79-30%) HP:0000405
29 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
30 hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000778
31 choanal atresia 59 32 very rare (1%) Occasional (29-5%) HP:0000453
32 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
33 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
34 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
35 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
36 abnormality of dental morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0006482
37 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
38 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
39 multiple enchondromatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005701
40 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
41 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
42 abnormality of bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004348
43 rectovaginal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000143
44 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
45 narrow internal auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0011386
46 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
47 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
48 absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000561
49 abnormality of the adrenal glands 59 32 occasional (7.5%) Occasional (29-5%) HP:0000834
50 abnormality of the vertebral column 59 32 occasional (7.5%) Occasional (29-5%) HP:0000925

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.47 ALX3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.47 NDST1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.47 ALX3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.47 POLR3B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.47 NDST1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.47 POLR3B ALX3 NDST1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.47 POLR3B NDST1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.47 POLR3B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.47 POLR3B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.47 ALX3 NDST1

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 Not Applicable
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
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 Not Applicable
7 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
8 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable

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 29
2 Treacher Collins Syndrome 1 29 TCOF1

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

41
Bone, Eye, Heart, Skin, Thyroid, Thymus, Adrenal Gland

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 330)
# Title Authors Year
1
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. ( 29567474 )
2018
2
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. ( 29230583 )
2018
3
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
4
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. ( 28973381 )
2017
5
A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. ( 28468148 )
2017
6
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. ( 28820843 )
2017
7
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
8
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. ( 27300466 )
2016
9
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. ( 27526242 )
2016
10
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. ( 27711076 )
2016
11
Comment to the article: &amp;quot;Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of Glidescope(Ar) videolaryngoscope&amp;quot;. ( 25530430 )
2015
12
Neonatal mandibular distraction in a patient with Treacher Collins syndrome. ( 25569412 )
2015
13
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
14
Nasal sequelae of Treacher Collins syndrome. ( 25862218 )
2015
15
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ( 25790162 )
2015
16
Reply to the letter on the article A<Comment to the article: &amp;quot;Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of GlideScope(Ar) videolaryngoscope&amp;quot;A>. ( 25530432 )
2015
17
Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. ( 25626822 )
2015
18
Treacher Collins Syndrome: the genetics of a craniofacial disease. ( 24690222 )
2014
19
Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report. ( 24783649 )
2014
20
Cholesteatoma of the hypotympanum in a patient with Treacher Collins syndrome. ( 23860365 )
2014
21
Surgical treatment of scoliosis in Treacher Collins syndrome: a case report. ( 25524572 )
2014
22
Treacher Collins syndrome: a case study. ( 25439217 )
2014
23
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. ( 24603435 )
2014
24
The surgical management of Treacher Collins syndrome. ( 24776174 )
2014
25
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
26
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
27
Successful intubation using McGRATH MAC in a patient with Treacher Collins syndrome. ( 25137871 )
2014
28
Easy airway management using the i-gela8c supraglottic airway in a patient with Treacher Collins syndrome. ( 25598889 )
2014
29
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response. ( 25512513 )
2014
30
Associations between speech features and phenotypic severity in Treacher Collins syndrome. ( 24775909 )
2014
31
Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report. ( 25379503 )
2014
32
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. ( 23695276 )
2014
33
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
34
Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. ( 24165631 )
2013
35
Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction. ( 23465636 )
2013
36
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. ( 24108658 )
2013
37
Orofacial functions and oral health associated with Treacher Collins syndrome. ( 22783882 )
2013
38
A range of condylar hypoplasia exists in Treacher Collins syndrome. ( 22766383 )
2013
39
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
40
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. ( 23455582 )
2013
41
Two extraordinarily severe cases of Treacher Collins syndrome. ( 23401420 )
2013
42
Treacher Collins syndrome with microcornea and retinal detachment. ( 24336587 )
2013
43
Treacher Collins syndrome: sinus of Valsalva aneurysm. ( 23836833 )
2013
44
Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. ( 23851757 )
2013
45
Computer-assisted midface reconstruction in Treacher Collins syndrome part 1: skeletal reconstruction. ( 23454266 )
2013
46
Re: Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. ( 23273823 )
2013
47
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. ( 23664577 )
2013
48
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. ( 23615184 )
2013
49
A classification system to guide orbitozygomatic reconstruction in Treacher-Collins syndrome. ( 23481581 )
2013
50
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. ( 23838542 )
2013

Variations for Treacher Collins Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 TCOF1 p.Trp53Arg VAR_005630

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6
(show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh37 Chromosome 5, 149753851: 149753851
2 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh38 Chromosome 5, 150374288: 150374288
3 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh38 Chromosome 5, 150368759: 150368759
4 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh37 Chromosome 5, 149748322: 149748322
5 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh38 Chromosome 5, 150368834: 150368837
6 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh37 Chromosome 5, 149748397: 149748400
7 TCOF1 NM_001135243.1(TCOF1): c.4369_4373delAAGAA (p.Lys1457Glufs) deletion Pathogenic rs587776582 GRCh38 Chromosome 5, 150398380: 150398384
8 TCOF1 NM_001135243.1(TCOF1): c.4369_4373delAAGAA (p.Lys1457Glufs) deletion Pathogenic rs587776582 GRCh37 Chromosome 5, 149777943: 149777947
9 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh37 Chromosome 5, 149740759: 149740759
10 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh38 Chromosome 5, 150361196: 150361196
11 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375489: 150375490
12 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh37 Chromosome 5, 149755052: 149755053
13 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh37 Chromosome 5, 149767567: 149767567
14 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh38 Chromosome 5, 150388004: 150388004
15 TCOF1 NM_000356.3(TCOF1): c.376_378+15del18 deletion Pathogenic rs587776584 GRCh38 Chromosome 5, 150367915: 150367932
16 TCOF1 NM_000356.3(TCOF1): c.376_378+15del18 deletion Pathogenic rs587776584 GRCh37 Chromosome 5, 149747478: 149747495
17 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh38 Chromosome 5, 150398376: 150398376
18 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh37 Chromosome 5, 149777939: 149777939
19 TCOF1 NM_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587777313 GRCh38 Chromosome 5, 150375487: 150375490
20 TCOF1 NM_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587777313 GRCh37 Chromosome 5, 149755050: 149755053
21 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
22 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh37 Chromosome 5, 149769510: 149769510
23 TCOF1 NM_001135244.1(TCOF1): c.-59G> A single nucleotide variant Likely benign rs151344563 GRCh37 Chromosome 5, 149737251: 149737251
24 TCOF1 NM_001135244.1(TCOF1): c.-59G> A single nucleotide variant Likely benign rs151344563 GRCh38 Chromosome 5, 150357688: 150357688
25 TCOF1 NM_001135244.1(TCOF1): c.108+62_108+68del deletion Likely benign rs151344564 GRCh37 Chromosome 5, 149737479: 149737485
26 TCOF1 NM_001135244.1(TCOF1): c.108+62_108+68del deletion Likely benign rs151344564 GRCh38 Chromosome 5, 150357916: 150357922
27 TCOF1 NM_001135244.1(TCOF1): c.109-28T> C single nucleotide variant Likely benign rs144149485 GRCh37 Chromosome 5, 149740691: 149740691
28 TCOF1 NM_001135244.1(TCOF1): c.109-28T> C single nucleotide variant Likely benign rs144149485 GRCh38 Chromosome 5, 150361128: 150361128
29 TCOF1 NM_001135244.1(TCOF1): c.305-52A> G single nucleotide variant Benign rs41287124 GRCh37 Chromosome 5, 149747355: 149747355
30 TCOF1 NM_001135244.1(TCOF1): c.305-52A> G single nucleotide variant Benign rs41287124 GRCh38 Chromosome 5, 150367792: 150367792
31 TCOF1 NM_001135244.1(TCOF1): c.579G> A (p.Ala193=) single nucleotide variant Likely benign rs142965998 GRCh37 Chromosome 5, 149749105: 149749105
32 TCOF1 NM_001135244.1(TCOF1): c.579G> A (p.Ala193=) single nucleotide variant Likely benign rs142965998 GRCh38 Chromosome 5, 150369542: 150369542
33 TCOF1 NM_001135244.1(TCOF1): c.1028G> A (p.Ser343Asn) single nucleotide variant Benign/Likely benign rs144327167 GRCh37 Chromosome 5, 149753894: 149753894
34 TCOF1 NM_001135244.1(TCOF1): c.1028G> A (p.Ser343Asn) single nucleotide variant Benign/Likely benign rs144327167 GRCh38 Chromosome 5, 150374331: 150374331
35 TCOF1 NM_001135244.1(TCOF1): c.1083+39G> A single nucleotide variant Benign rs56113366 GRCh37 Chromosome 5, 149753988: 149753988
36 TCOF1 NM_001135244.1(TCOF1): c.1083+39G> A single nucleotide variant Benign rs56113366 GRCh38 Chromosome 5, 150374425: 150374425
37 TCOF1 NM_001135244.1(TCOF1): c.1086G> A (p.Ala362=) single nucleotide variant Likely benign rs151344568 GRCh38 Chromosome 5, 150374619: 150374619
38 TCOF1 NM_001135244.1(TCOF1): c.1086G> A (p.Ala362=) single nucleotide variant Likely benign rs151344568 GRCh37 Chromosome 5, 149754182: 149754182
39 TCOF1 NM_001135244.1(TCOF1): c.1242C> T (p.Ser414=) single nucleotide variant Likely benign rs151344569 GRCh37 Chromosome 5, 149754338: 149754338
40 TCOF1 NM_001135244.1(TCOF1): c.1242C> T (p.Ser414=) single nucleotide variant Likely benign rs151344569 GRCh38 Chromosome 5, 150374775: 150374775
41 TCOF1 NM_001135244.1(TCOF1): c.1278+60G> C single nucleotide variant Benign rs143713714 GRCh37 Chromosome 5, 149754434: 149754434
42 TCOF1 NM_001135244.1(TCOF1): c.1278+60G> C single nucleotide variant Benign rs143713714 GRCh38 Chromosome 5, 150374871: 150374871
43 TCOF1 NM_001135244.1(TCOF1): c.1281G> A (p.Ala427=) single nucleotide variant Benign/Likely benign rs113299143 GRCh37 Chromosome 5, 149754519: 149754519
44 TCOF1 NM_001135244.1(TCOF1): c.1281G> A (p.Ala427=) single nucleotide variant Benign/Likely benign rs113299143 GRCh38 Chromosome 5, 150374956: 150374956
45 TCOF1 NM_001135244.1(TCOF1): c.1854G> A (p.Ala618=) single nucleotide variant Likely benign rs151344570 GRCh37 Chromosome 5, 149755433: 149755433
46 TCOF1 NM_001135244.1(TCOF1): c.1854G> A (p.Ala618=) single nucleotide variant Likely benign rs151344570 GRCh38 Chromosome 5, 150375870: 150375870
47 TCOF1 NM_001135244.1(TCOF1): c.1953T> C (p.Thr651=) single nucleotide variant Likely benign rs151344571 GRCh38 Chromosome 5, 150376141: 150376141
48 TCOF1 NM_001135244.1(TCOF1): c.1953T> C (p.Thr651=) single nucleotide variant Likely benign rs151344571 GRCh37 Chromosome 5, 149755704: 149755704
49 TCOF1 NM_001135244.1(TCOF1): c.2142+22C> T single nucleotide variant Likely benign rs151344572 GRCh38 Chromosome 5, 150376352: 150376352
50 TCOF1 NM_001135244.1(TCOF1): c.2142+22C> T single nucleotide variant Likely benign rs151344572 GRCh37 Chromosome 5, 149755915: 149755915

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:

37
# 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 nucleoplasm GO:0005654 9.91 DHODH EFTUD2 POLI POLR1A POLR1C POLR3B
2 nucleus GO:0005634 9.77 ALX3 EFTUD2 HOXA2 PLCB4 POLI POLR1A
3 spliceosomal complex GO:0005681 9.54 EFTUD2 SF3B4 TXNL4A
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.32 EFTUD2 TXNL4A
5 DNA-directed RNA polymerase III complex GO:0005666 9.16 POLR1C POLR3B
6 DNA-directed RNA polymerase I complex GO:0005736 8.8 POLR1A POLR1C POLR1D

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 9.43 POLR1C POLR3B
2 transcription initiation from RNA polymerase I promoter GO:0006361 9.4 POLR1A POLR1C
3 termination of RNA polymerase I transcription GO:0006363 9.37 POLR1A POLR1C
4 transcription elongation from RNA polymerase I promoter GO:0006362 9.32 POLR1A POLR1C
5 RNA splicing, via transesterification reactions GO:0000375 9.26 SF3B4 TXNL4A
6 neural crest cell development GO:0014032 9.16 KBTBD8 TCOF1
7 embryonic viscerocranium morphogenesis GO:0048703 8.96 HOXA2 NDST1
8 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 nucleotidyltransferase activity GO:0016779 9.33 POLI POLR1A POLR3B
2 RNA polymerase III activity GO:0001056 9.26 POLR1C POLR3B
3 RNA polymerase I activity GO:0001054 8.96 POLR1A POLR1C
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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