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TCS1
MCID: TRC072
MIFTS: 63

Treacher Collins Syndrome 1 (TCS1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Treacher Collins Syndrome 1

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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 24 53 25 75 44
Treacher Collins-Franceschetti Syndrome 57 24 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


GeneReviews:

24
Penetrance Penetrance of pathogenic variants associated with tcs is high, but cases of non-penetrance have been reported...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Treacher Collins Syndrome 1

About this section
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 mandibulofacial dysostosis, guion-almeida type and acrofacial dysostosis 1, nager type. 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: NBK1532
Sources

Related Diseases for Treacher Collins Syndrome 1

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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 340)
# Related Disease Score Top Affiliating Genes
1 mandibulofacial dysostosis, guion-almeida type 34.4 TXNL4A SF3B4 EFTUD2
2 acrofacial dysostosis 1, nager type 32.6 VWA1 TXNL4A SF3B4 EFTUD2 DHODH
3 dysostosis 31.1 SF3B4 POLR1A EFTUD2 DHODH
4 choanal atresia, posterior 30.9 TXNL4A EFTUD2
5 microtia 30.6 TCOF1 HOXA2
6 hemifacial microsomia 30.3 HOXA2 ALX3
7 esophageal atresia 30.2 TCOF1 EFTUD2
8 acrofacial dysostosis 30.0 TXNL4A SF3B4 POLR1A DHODH
9 mandibulofacial dysostosis with alopecia 12.8
10 diamond-blackfan anemia 15 with mandibulofacial dysostosis 12.6
11 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.6
12 split-foot deformity with mandibulofacial dysostosis 12.6
13 mandibulofacial dysostosis with macroblepharon and macrostomia 12.4
14 branchial arch syndrome, x-linked 12.4
15 mandibulofacial dysostosis with mental retardation 12.2
16 mandibulofacial dysostosis syndrome, bauru type 12.2
17 mandibulofacial dysostosis with ptosis, autosomal dominant 12.2
18 oculoauricular syndrome 11.8
19 acrofacial dysostosis, catania type 11.7
20 acrofacial dysostosis, cincinnati type 11.7
21 acrofacial dysostosis syndrome of rodriguez 11.6
22 microtia-anotia 11.4
23 imperforate oropharynx-costo vetebral anomalies 11.3
24 transcobalamin deficiency 11.2
25 craniofacial microsomia 11.2
26 tethered spinal cord syndrome 11.2
27 treacher collins syndrome 3 11.1
28 treacher collins syndrome 2 11.1
29 transcobalamin ii deficiency 11.1
30 uv-sensitive syndrome 1 11.0
31 cerebrooculofacioskeletal syndrome 4 11.0
32 uv-sensitive syndrome 2 11.0
33 uv-sensitive syndrome 3 11.0
34 uv-sensitive syndrome 11.0
35 sleep apnea 10.5
36 alopecia 10.4
37 tetralogy of fallot 10.4
38 cryptorchidism, unilateral or bilateral 10.4
39 tracheoesophageal fistula 10.4
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
41 weyers acrofacial dysostosis 10.3
42 hypomandibular faciocranial dysostosis 10.3
43 postaxial acrofacial dysostosis 10.3
44 acrofacial dysostosis, palagonia type 10.3
45 acrodysostosis 10.3
46 acrodysostosis with multiple hormone resistance 10.3
47 acrofacial dysostosis, kennedy-teebi type 10.3
48 johnson neuroectodermal syndrome 10.3
49 cherubism 10.3
50 hemifacial microsomia with radial defects 10.3

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



Diseases related to Treacher Collins Syndrome 1
Sources

Symptoms & Phenotypes for Treacher Collins Syndrome 1

About this section

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 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.8 ALX3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.8 NDST1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.8 ALX3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.8 POLR3B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.8 NDST1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.8 ALX3 NDST1 POLR3B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 NDST1 POLR3B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.8 POLR3B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.8 POLR3B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.8 ALX3 NDST1
11 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.02 EFTUD2 POLR1A POLR1C SF3B4 WDR43
Sources

Drugs & Therapeutics for Treacher Collins Syndrome 1

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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 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable
8 Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children Recruiting NCT03806361 Not Applicable
9 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

Sources

Genetic Tests for Treacher Collins Syndrome 1

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Genetic tests related to Treacher Collins Syndrome 1:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 29
2 Treacher Collins Syndrome 1 29 TCOF1
Sources

Anatomical Context for Treacher Collins Syndrome 1

About this section

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

41
Bone, Eye, Heart, Skin, Thyroid, Brain, Thymus
Sources

Publications for Treacher Collins Syndrome 1

About this section

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 370)
# 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
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. ( 29128566 )
2018
4
Orbital volume and shape in Treacher Collins syndrome. ( 29275073 )
2018
5
Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome. ( 29570515 )
2018
6
Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. ( 29716177 )
2018
7
Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. ( 29870506 )
2018
8
Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis. ( 29905603 )
2018
9
Computer-Assisted Bilateral Orbitozygomatic Reconstruction in a Patient With Treacher Collins Syndrome Using Bicortical Calvarial Graft. ( 30027212 )
2018
10
Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. ( 30045181 )
2018
11
The Use of Virtual Surgical Planning in Total Facial Skeletal Reconstruction of Treacher Collins Syndrome: A Case Report. ( 30087754 )
2018
12
Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. ( 30186496 )
2018
13
A novel human pluripotent stem cell-derived neural crest model of Treacher Collins Syndrome shows defects in cell death and migration. ( 30375284 )
2018
14
Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals? ( 30540014 )
2018
15
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
16
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. ( 28973381 )
2017
17
A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. ( 28468148 )
2017
18
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. ( 28820843 )
2017
19
Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas. ( 28045828 )
2017
20
The airway approach to a neonate with Treacher Collins syndrome - Case report. ( 28094032 )
2017
21
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
22
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. ( 27300466 )
2016
23
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. ( 27526242 )
2016
24
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. ( 27711076 )
2016
25
Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. ( 26025357 )
2016
26
Airway management in a child with Treacher Collins syndrome using C-MAC videolaryngoscope. ( 26589298 )
2016
27
Evaluation of Interforaminal Mandible Region of Individuals With Pierre Robin Sequence and Treacher Collins Syndrome Through the Cone-Beam Computed Tomography. ( 26674888 )
2016
28
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 26710023 )
2016
29
Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. ( 26792133 )
2016
30
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. ( 26972049 )
2016
31
Reply: Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 27070214 )
2016
32
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 27070215 )
2016
33
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. ( 27448281 )
2016
34
Speech language pathology findings in a Treacher Collins syndrome patient. ( 27488991 )
2016
35
Malar Reconstruction Using Y-V Advancement Flaps after Tissue Expansion in Treacher Collins Syndrome. ( 27579239 )
2016
36
Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome. ( 27607112 )
2016
37
Treacher Collins syndrome: New insights from animal models. ( 27777025 )
2016
38
Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. ( 28053912 )
2016
39
Treacher Collins syndrome: A case report and review of ophthalmic features. ( 29018745 )
2016
40
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
41
Neonatal mandibular distraction in a patient with Treacher Collins syndrome. ( 25569412 )
2015
42
Nasal sequelae of Treacher Collins syndrome. ( 25862218 )
2015
43
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ( 25790162 )
2015
44
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
45
Erratum to: 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. ( 25480422 )
2015
46
Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. ( 25626822 )
2015
47
Reduced three-dimensional nasal airway volume in treacher collins syndrome and its association with craniofacial morphology. ( 25919271 )
2015
48
Early Fat Grafting for Augmentation of Orbitozygomatic Region in Treacher Collins Syndrome. ( 26080169 )
2015
49
CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ( 26240980 )
2015
50
Treacher Collins Syndrome: the genetics of a craniofacial disease. ( 24690222 )
2014
Sources

Variations for Treacher Collins Syndrome 1

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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 165)
# 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_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587777313 GRCh37 Chromosome 5, 149755050: 149755053
3 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
4 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh37 Chromosome 5, 149769510: 149769510
5 TCOF1 NM_001135243.1(TCOF1): c.2094A> G (p.Glu698=) single nucleotide variant Benign/Likely benign rs34796297 GRCh37 Chromosome 5, 149755845: 149755845
6 TCOF1 NM_001135243.1(TCOF1): c.2094A> G (p.Glu698=) single nucleotide variant Benign/Likely benign rs34796297 GRCh38 Chromosome 5, 150376282: 150376282
7 TCOF1 NM_001135243.1(TCOF1): c.2765C> T (p.Ser922Leu) single nucleotide variant Benign/Likely benign rs114689020 GRCh37 Chromosome 5, 149759201: 149759201
8 TCOF1 NM_001135243.1(TCOF1): c.2765C> T (p.Ser922Leu) single nucleotide variant Benign/Likely benign rs114689020 GRCh38 Chromosome 5, 150379638: 150379638
9 TCOF1 NM_001135243.1(TCOF1): c.4292G> C (p.Gly1431Ala) single nucleotide variant Benign/Likely benign rs45491898 GRCh37 Chromosome 5, 149776355: 149776355
10 TCOF1 NM_001135243.1(TCOF1): c.4292G> C (p.Gly1431Ala) single nucleotide variant Benign/Likely benign rs45491898 GRCh38 Chromosome 5, 150396792: 150396792
11 TCOF1 NM_001135243.1(TCOF1): c.122C> T (p.Ala41Val) single nucleotide variant Benign/Likely benign rs56180593 GRCh37 Chromosome 5, 149740732: 149740732
12 TCOF1 NM_001135243.1(TCOF1): c.122C> T (p.Ala41Val) single nucleotide variant Benign/Likely benign rs56180593 GRCh38 Chromosome 5, 150361169: 150361169
13 TCOF1 NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs) deletion Pathogenic rs797046037 GRCh37 Chromosome 5, 149748286: 149748287
14 TCOF1 NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs) deletion Pathogenic rs797046037 GRCh38 Chromosome 5, 150368723: 150368724
15 TCOF1 NM_001135243.1(TCOF1): c.2575C> G (p.Gln859Glu) single nucleotide variant Uncertain significance rs201043592 GRCh37 Chromosome 5, 149758888: 149758888
16 TCOF1 NM_001135243.1(TCOF1): c.2575C> G (p.Gln859Glu) single nucleotide variant Uncertain significance rs201043592 GRCh38 Chromosome 5, 150379325: 150379325
17 TCOF1 NM_001135243.1(TCOF1): c.4004A> G (p.Lys1335Arg) single nucleotide variant Benign/Likely benign rs55980697 GRCh37 Chromosome 5, 149776067: 149776067
18 TCOF1 NM_001135243.1(TCOF1): c.4004A> G (p.Lys1335Arg) single nucleotide variant Benign/Likely benign rs55980697 GRCh38 Chromosome 5, 150396504: 150396504
19 TCOF1 NM_001135243.1(TCOF1): c.1133C> T (p.Ala378Val) single nucleotide variant Benign/Likely benign rs75181211 GRCh37 Chromosome 5, 149754229: 149754229
20 TCOF1 NM_001135243.1(TCOF1): c.1133C> T (p.Ala378Val) single nucleotide variant Benign/Likely benign rs75181211 GRCh38 Chromosome 5, 150374666: 150374666
21 TCOF1 NM_001135243.1(TCOF1): c.1590G> A (p.Gly530=) single nucleotide variant Benign/Likely benign rs145539529 GRCh38 Chromosome 5, 150375440: 150375440
22 TCOF1 NM_001135243.1(TCOF1): c.1590G> A (p.Gly530=) single nucleotide variant Benign/Likely benign rs145539529 GRCh37 Chromosome 5, 149755003: 149755003
23 TCOF1 NM_001135243.1(TCOF1): c.1783G> A (p.Val595Ile) single nucleotide variant Benign/Likely benign rs75583421 GRCh37 Chromosome 5, 149755362: 149755362
24 TCOF1 NM_001135243.1(TCOF1): c.1783G> A (p.Val595Ile) single nucleotide variant Benign/Likely benign rs75583421 GRCh38 Chromosome 5, 150375799: 150375799
25 TCOF1 NM_001135243.1(TCOF1): c.3510C> T (p.His1170=) single nucleotide variant Benign/Likely benign rs116354094 GRCh37 Chromosome 5, 149771732: 149771732
26 TCOF1 NM_001135243.1(TCOF1): c.3510C> T (p.His1170=) single nucleotide variant Benign/Likely benign rs116354094 GRCh38 Chromosome 5, 150392169: 150392169
27 TCOF1 NM_001135243.1(TCOF1): c.2766G> A (p.Ser922=) single nucleotide variant Conflicting interpretations of pathogenicity rs369562565 GRCh37 Chromosome 5, 149759202: 149759202
28 TCOF1 NM_001135243.1(TCOF1): c.2766G> A (p.Ser922=) single nucleotide variant Conflicting interpretations of pathogenicity rs369562565 GRCh38 Chromosome 5, 150379639: 150379639
29 TCOF1 NM_001135243.1(TCOF1): c.3709G> A (p.Ala1237Thr) single nucleotide variant Benign/Likely benign rs137960641 GRCh37 Chromosome 5, 149773043: 149773043
30 TCOF1 NM_001135243.1(TCOF1): c.3709G> A (p.Ala1237Thr) single nucleotide variant Benign/Likely benign rs137960641 GRCh38 Chromosome 5, 150393480: 150393480
31 TCOF1 NM_001135243.1(TCOF1): c.1448_1451delACAG (p.Asp483Valfs) deletion Pathogenic/Likely pathogenic rs1064794474 GRCh37 Chromosome 5, 149754686: 149754689
32 TCOF1 NM_001135243.1(TCOF1): c.1448_1451delACAG (p.Asp483Valfs) deletion Pathogenic/Likely pathogenic rs1064794474 GRCh38 Chromosome 5, 150375123: 150375126
33 TCOF1 NM_001135243.1(TCOF1): c.3970dupG (p.Glu1324Glyfs) duplication Pathogenic GRCh38 Chromosome 5, 150396470: 150396470
34 TCOF1 NM_001135243.1(TCOF1): c.3970dupG (p.Glu1324Glyfs) duplication Pathogenic GRCh37 Chromosome 5, 149776033: 149776033
35 TCOF1 NM_001135243.1(TCOF1): c.827_844del18 (p.Gly276_Glu281del) deletion Conflicting interpretations of pathogenicity rs528897827 GRCh37 Chromosome 5, 149751756: 149751773
36 TCOF1 NM_001135243.1(TCOF1): c.827_844del18 (p.Gly276_Glu281del) deletion Conflicting interpretations of pathogenicity rs528897827 GRCh38 Chromosome 5, 150372193: 150372210
37 TCOF1 NM_001135244.1(TCOF1): c.1705G> A (p.Glu569Lys) single nucleotide variant Likely pathogenic rs764314276 GRCh38 Chromosome 5, 150375721: 150375721
38 TCOF1 NM_001135244.1(TCOF1): c.1705G> A (p.Glu569Lys) single nucleotide variant Likely pathogenic rs764314276 GRCh37 Chromosome 5, 149755284: 149755284
39 TCOF1 NM_001135243.1(TCOF1): c.4365dup (p.Glu1456Argfs) duplication Pathogenic GRCh38 Chromosome 5, 150398376: 150398376
40 TCOF1 NM_001135243.1(TCOF1): c.4365dup (p.Glu1456Argfs) duplication Pathogenic GRCh37 Chromosome 5, 149777939: 149777939
41 TCOF1 NM_001135243.1(TCOF1): c.4357_4360delGAAA (p.Glu1453Lysfs) deletion Pathogenic GRCh37 Chromosome 5, 149777931: 149777934
42 TCOF1 NM_001135243.1(TCOF1): c.4357_4360delGAAA (p.Glu1453Lysfs) deletion Pathogenic GRCh38 Chromosome 5, 150398368: 150398371
43 TCOF1 NC_000005.10: g.(?_150396282)_(150399070_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 150396282: 150399070
44 TCOF1 NM_001135243.1(TCOF1): c.2285_2286delCT (p.Ser762Terfs) deletion Pathogenic GRCh37 Chromosome 5, 149756128: 149756129
45 TCOF1 NM_001135243.1(TCOF1): c.2285_2286delCT (p.Ser762Terfs) deletion Pathogenic GRCh38 Chromosome 5, 150376565: 150376566
46 TCOF1 NM_001135243.1(TCOF1): c.2796_2797delAG (p.Gly933Glufs) deletion Pathogenic GRCh37 Chromosome 5, 149759232: 149759233
47 TCOF1 NM_001135243.1(TCOF1): c.2796_2797delAG (p.Gly933Glufs) deletion Pathogenic GRCh38 Chromosome 5, 150379669: 150379670
48 TCOF1 NM_001135243.1(TCOF1): c.4385A> G (p.Lys1462Arg) single nucleotide variant Likely benign rs200645401 GRCh37 Chromosome 5, 149777959: 149777959
49 TCOF1 NM_001135243.1(TCOF1): c.4385A> G (p.Lys1462Arg) single nucleotide variant Likely benign rs200645401 GRCh38 Chromosome 5, 150398396: 150398396
50 TCOF1 NM_001135243.1(TCOF1): c.2146_2147delAA (p.Lys716Valfs) deletion Pathogenic GRCh37 Chromosome 5, 149755989: 149755990

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
Sources

Expression for Treacher Collins Syndrome 1

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

Pathways for Treacher Collins Syndrome 1

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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

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

# Super pathways Score Top Affiliating Genes
1
Gene Expression 66
Show member pathways
 13.44 EFTUD2 POLR1A POLR1C POLR1D POLR3B SF3B4
2
Purine metabolism (KEGG) 1
Show member pathways
 12.12 DHODH POLR1A POLR1C POLR1D POLR3B
3
RNA Polymerase III Transcription Initiation 66
Show member pathways
 12.07 POLR1A POLR1C POLR1D POLR3B
4
RNA Polymerase I Promoter Escape 66
Show member pathways
 11.59 POLR1A POLR1C POLR1D
5
mRNA Splicing - Minor Pathway 66
11.16 EFTUD2 SF3B4 TXNL4A
6
Inhibition of Ribosome Biogenesis by p14(ARF) 64
10.47 POLR1A POLR1C POLR1D
7
Assembly of RNA Polymerase-I Initiation Complex 64
9.8 POLR1A POLR1C POLR1D
Sources

GO Terms for Treacher Collins Syndrome 1

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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 9.5 EFTUD2 SF3B4 TXNL4A
4 RNA polymerase III complex GO:0005666 9.16 POLR1C POLR3B
5 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 9.46 POLR1C POLR3B
2 positive regulation of gene expression, epigenetic GO:0045815 9.43 POLR1A POLR1C
3 transcription initiation from RNA polymerase I promoter GO:0006361 9.4 POLR1A POLR1C
4 termination of RNA polymerase I transcription GO:0006363 9.37 POLR1A POLR1C
5 RNA splicing, via transesterification reactions GO:0000375 9.32 SF3B4 TXNL4A
6 neural crest cell development GO:0014032 9.26 KBTBD8 TCOF1
7 transcription, DNA-templated GO:0006351 9.26 POLR1A POLR1C POLR1D POLR3B
8 embryonic viscerocranium morphogenesis GO:0048703 9.16 HOXA2 NDST1
9 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

Sources for Treacher Collins Syndrome 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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