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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 58 76 30 13 6
Treacher Collins Syndrome 58 12 77 25 54 26 76 38 30 56 6 15
Mandibulofacial Dysostosis 58 12 54 26 76 45
Treacher Collins-Franceschetti Syndrome 58 54 26 76
Tcof 58 54 76
Mfd1 58 54 76
Tcs 58 54 76
Franceschetti-Klein Syndrome 60 74
Tcs1 58 76
Mandibulofacial Dysostosis Without Limb Anomalies 60
Treacher Collins-Franceschetti Syndrome; Tcof 58
Franceschetti-Zwahlen-Klein Syndrome 26
Treacher Collins Syndrome, Type 1 41
Mandibulofacial Dysostosis; Mfd1 58
Treacher Collins Syndrome; Tcs 58
Zygoauromandibular Dysplasia 26
Treacher-Collins Syndrome 60
Franceschetti Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


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: 34 35
Orphanet: 60  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Treacher Collins Syndrome 1

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NIH Rare Diseases : 54 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 eye, bone and thyroid, and related phenotypes are malar flattening and skeletal dysplasia

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews:
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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 408)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 33.0 EFTUD2 SF3B4 TXNL4A VWA1
2 dysostosis 31.5 EFTUD2 POLR1A SF3B4
3 choanal atresia, posterior 30.9 EFTUD2 TXNL4A
4 microtia 30.6 HOXA2 TCOF1
5 mandibulofacial dysostosis, guion-almeida type 30.4 EFTUD2 SF3B4 TXNL4A
6 acrofacial dysostosis 30.4 POLR1A SF3B4 TXNL4A
7 hemifacial microsomia 30.4 ALX3 HOXA2
8 pol iii-related leukodystrophies 29.6 POLR1C POLR3B
9 mandibulofacial dysostosis with alopecia 12.9
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 12.5
14 branchial arch syndrome, x-linked 12.4
15 mandibulofacial dysostosis with mental retardation 12.3
16 mandibulofacial dysostosis syndrome, bauru type 12.3
17 mandibulofacial dysostosis with ptosis, autosomal dominant 12.3
18 oculoauricular syndrome 11.8
19 acrofacial dysostosis, catania type 11.8
20 acrofacial dysostosis, cincinnati type 11.8
21 acrofacial dysostosis syndrome of rodriguez 11.6
22 transcobalamin ii deficiency 11.4
23 microtia-anotia 11.4
24 imperforate oropharynx-costo vetebral anomalies 11.3
25 transcobalamin deficiency 11.3
26 tethered spinal cord syndrome 11.2
27 treacher collins syndrome 3 11.1
28 treacher collins syndrome 2 11.1
29 uv-sensitive syndrome 1 11.1
30 cerebrooculofacioskeletal syndrome 4 11.1
31 uv-sensitive syndrome 2 11.1
32 uv-sensitive syndrome 3 11.1
33 uv-sensitive syndrome 11.1
34 sleep apnea 10.5
35 alopecia 10.5
36 tetralogy of fallot 10.4
37 cryptorchidism, unilateral or bilateral 10.4
38 tracheoesophageal fistula 10.4
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
40 weyers acrofacial dysostosis 10.4
41 hypomandibular faciocranial dysostosis 10.4
42 postaxial acrofacial dysostosis 10.4
43 acrofacial dysostosis, palagonia type 10.4
44 acrodysostosis 10.4
45 acrodysostosis with multiple hormone resistance 10.4
46 acrofacial dysostosis, kennedy-teebi type 10.4
47 coloboma of macula 10.3
48 johnson neuroectodermal syndrome 10.3
49 hyperparathyroidism 10.3
50 cherubism 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

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Human phenotypes related to Treacher Collins Syndrome 1:

60 33 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 very rare (1%) Very frequent (99-80%) HP:0000272
2 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
3 open bite 60 33 hallmark (90%) Very frequent (99-80%) HP:0010807
4 micrognathia 60 33 very rare (1%) Very frequent (99-80%) HP:0000347
5 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
6 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
7 downslanted palpebral fissures 60 33 very rare (1%) Very frequent (99-80%) HP:0000494
8 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
9 abnormality of bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004348
10 short face 60 33 hallmark (90%) Very frequent (99-80%) HP:0011219
11 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
12 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
13 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
14 microtia 60 33 very rare (1%) Frequent (79-30%) HP:0008551
15 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
16 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
17 conductive hearing impairment 60 33 very rare (1%) Frequent (79-30%) HP:0000405
18 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
19 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
20 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
21 narrow internal auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0011386
22 absent eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000561
23 eyelid coloboma 33 frequent (33%) HP:0000625
24 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
25 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
26 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
27 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
28 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
29 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
30 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
31 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
32 glossoptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000162
33 cleft palate 60 33 very rare (1%) Occasional (29-5%) HP:0000175
34 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
35 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
36 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
37 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
38 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
39 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
40 hypoplasia of the thymus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000778
41 choanal atresia 60 33 very rare (1%) Occasional (29-5%) HP:0000453
42 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
43 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
44 abnormality of dental morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0006482
45 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
46 multiple enchondromatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005701
47 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
48 rectovaginal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000143
49 cleft upper lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000204
50 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.91 SF3B4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 EFTUD2 NDST1 RPS14 SF3B4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.91 NDST1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.91 EFTUD2 RPS14 SF3B4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.91 NDST1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 EFTUD2 RPS14
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 NDST1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.91 EFTUD2 RPS14
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.91 NDST1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 SF3B4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.91 RPS14
12 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.17 EFTUD2 NOLC1 POLR1A POLR1C RPS14 SF3B4
Sources

Drugs & Therapeutics for Treacher Collins Syndrome 1

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Interventional clinical trials:

(show all 11)
# 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 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463 Not Applicable
4 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
5 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
6 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
7 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable
8 Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021 Not Applicable
9 Evaluation of Effect of Bone Marrow Aspirate Concentrate on Distracted Mandibular Bone Properties Completed NCT03861650 Not Applicable
10 Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children Recruiting NCT03806361 Not Applicable
11 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 30
2 Treacher Collins Syndrome 1 30 TCOF1
Sources

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

42
Eye, Bone, Thyroid, Brain, Myeloid, Thymus, Adrenal Gland
Sources

Publications for Treacher Collins Syndrome 1

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Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 381)
# Title Authors Year
1
A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration. ( 30375284 )
2019
2
Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery. ( 30661728 )
2019
3
Dams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome. ( 30684921 )
2019
4
Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome. ( 30849304 )
2019
5
Treacher Collins Syndrome. ( 30851751 )
2019
6
Endotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome. ( 30883232 )
2019
7
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. ( 30957429 )
2019
8
Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report. ( 30961377 )
2019
9
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. ( 31107123 )
2019
10
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. ( 29128566 )
2018
11
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. ( 29230583 )
2018
12
Orbital volume and shape in Treacher Collins syndrome. ( 29275073 )
2018
13
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. ( 29567474 )
2018
14
Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome. ( 29570515 )
2018
15
Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. ( 29716177 )
2018
16
Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. ( 29870506 )
2018
17
Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis. ( 29905603 )
2018
18
Computer-Assisted Bilateral Orbitozygomatic Reconstruction in a Patient With Treacher Collins Syndrome Using Bicortical Calvarial Graft. ( 30027212 )
2018
19
Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. ( 30045181 )
2018
20
The Use of Virtual Surgical Planning in Total Facial Skeletal Reconstruction of Treacher Collins Syndrome: A Case Report. ( 30087754 )
2018
21
Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. ( 30186496 )
2018
22
Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals? ( 30540014 )
2018
23
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
24
Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas. ( 28045828 )
2017
25
The airway approach to a neonate with Treacher Collins syndrome - Case report. ( 28094032 )
2017
26
A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. ( 28468148 )
2017
27
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. ( 28820843 )
2017
28
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. ( 28973381 )
2017
29
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
30
Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. ( 28053912 )
2016
31
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. ( 25790162 )
2016
32
Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. ( 26025357 )
2016
33
Airway management in a child with Treacher Collins syndrome using C-MAC videolaryngoscope. ( 26589298 )
2016
34
Evaluation of Interforaminal Mandible Region of Individuals With Pierre Robin Sequence and Treacher Collins Syndrome Through the Cone-Beam Computed Tomography. ( 26674888 )
2016
35
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 26710023 )
2016
36
Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. ( 26792133 )
2016
37
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. ( 26972049 )
2016
38
Reply: Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 27070214 )
2016
39
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. ( 27070215 )
2016
40
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. ( 27300466 )
2016
41
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
42
Speech language pathology findings in a Treacher Collins syndrome patient. ( 27488991 )
2016
43
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. ( 27526242 )
2016
44
Malar Reconstruction Using Y-V Advancement Flaps after Tissue Expansion in Treacher Collins Syndrome. ( 27579239 )
2016
45
Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome. ( 27607112 )
2016
46
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. ( 27711076 )
2016
47
Treacher Collins syndrome: New insights from animal models. ( 27777025 )
2016
48
Treacher Collins syndrome: A case report and review of ophthalmic features. ( 29018745 )
2016
49
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 )
2015
50
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
Sources

Variations for Treacher Collins Syndrome 1

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

76
# 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_000356.3(TCOF1): c.376_378+15delAAGGTGAGTGGGACTGCC deletion Pathogenic rs587776584 GRCh38 Chromosome 5, 150367915: 150367932
2 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh37 Chromosome 5, 149777939: 149777939
3 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh37 Chromosome 5, 149755052: 149755053
4 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh37 Chromosome 5, 149767567: 149767567
5 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh38 Chromosome 5, 150388004: 150388004
6 TCOF1 NM_000356.3(TCOF1): c.376_378+15delAAGGTGAGTGGGACTGCC deletion Pathogenic rs587776584 GRCh37 Chromosome 5, 149747478: 149747495
7 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh38 Chromosome 5, 150398376: 150398376
8 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375489: 150375490
9 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh37 Chromosome 5, 149753851: 149753851
10 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh38 Chromosome 5, 150374288: 150374288
11 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh38 Chromosome 5, 150368759: 150368759
12 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh37 Chromosome 5, 149748322: 149748322
13 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh38 Chromosome 5, 150368834: 150368837
14 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh37 Chromosome 5, 149748397: 149748400
15 TCOF1 NM_001135243.1(TCOF1): c.4369_4373delAAGAA (p.Lys1457Glufs) deletion Pathogenic rs587776582 GRCh38 Chromosome 5, 150398380: 150398384
16 TCOF1 NM_001135243.1(TCOF1): c.4369_4373delAAGAA (p.Lys1457Glufs) deletion Pathogenic rs587776582 GRCh37 Chromosome 5, 149777943: 149777947
17 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh37 Chromosome 5, 149740759: 149740759
18 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh38 Chromosome 5, 150361196: 150361196
19 TCOF1 NM_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375487: 150375490
20 TCOF1 NM_001135243.1(TCOF1): c.1637_1640delAGAG (p.Glu546Alafs) deletion Pathogenic rs587776583 GRCh37 Chromosome 5, 149755050: 149755053
21 TCOF1 NM_000356.3(TCOF1): c.2876dup (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
22 TCOF1 NM_000356.3(TCOF1): c.2876dup (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh37 Chromosome 5, 149769510: 149769510
23 TCOF1 NM_001135243.1(TCOF1): c.2094A> G (p.Glu698=) single nucleotide variant Benign/Likely benign rs34796297 GRCh37 Chromosome 5, 149755845: 149755845
24 TCOF1 NM_001135243.1(TCOF1): c.2094A> G (p.Glu698=) single nucleotide variant Benign/Likely benign rs34796297 GRCh38 Chromosome 5, 150376282: 150376282
25 TCOF1 NM_001135243.1(TCOF1): c.2765C> T (p.Ser922Leu) single nucleotide variant Benign/Likely benign rs114689020 GRCh37 Chromosome 5, 149759201: 149759201
26 TCOF1 NM_001135243.1(TCOF1): c.2765C> T (p.Ser922Leu) single nucleotide variant Benign/Likely benign rs114689020 GRCh38 Chromosome 5, 150379638: 150379638
27 TCOF1 NM_001135243.1(TCOF1): c.4292G> C (p.Gly1431Ala) single nucleotide variant Benign/Likely benign rs45491898 GRCh37 Chromosome 5, 149776355: 149776355
28 TCOF1 NM_001135243.1(TCOF1): c.4292G> C (p.Gly1431Ala) single nucleotide variant Benign/Likely benign rs45491898 GRCh38 Chromosome 5, 150396792: 150396792
29 TCOF1 NM_001135244.1(TCOF1): c.-59G> A single nucleotide variant Likely benign rs151344563 GRCh37 Chromosome 5, 149737251: 149737251
30 TCOF1 NM_001135244.1(TCOF1): c.-59G> A single nucleotide variant Likely benign rs151344563 GRCh38 Chromosome 5, 150357688: 150357688
31 TCOF1 NM_001135244.1(TCOF1): c.108+62_108+68del deletion Likely benign rs151344564 GRCh37 Chromosome 5, 149737479: 149737485
32 TCOF1 NM_001135244.1(TCOF1): c.108+62_108+68del deletion Likely benign rs151344564 GRCh38 Chromosome 5, 150357916: 150357922
33 TCOF1 NM_001135244.1(TCOF1): c.109-28T> C single nucleotide variant Likely benign rs144149485 GRCh37 Chromosome 5, 149740691: 149740691
34 TCOF1 NM_001135244.1(TCOF1): c.109-28T> C single nucleotide variant Likely benign rs144149485 GRCh38 Chromosome 5, 150361128: 150361128
35 TCOF1 NM_001135244.1(TCOF1): c.305-52A> G single nucleotide variant Benign rs41287124 GRCh37 Chromosome 5, 149747355: 149747355
36 TCOF1 NM_001135244.1(TCOF1): c.305-52A> G single nucleotide variant Benign rs41287124 GRCh38 Chromosome 5, 150367792: 150367792
37 TCOF1 NM_001135244.1(TCOF1): c.579G> A (p.Ala193=) single nucleotide variant Benign/Likely benign rs142965998 GRCh37 Chromosome 5, 149749105: 149749105
38 TCOF1 NM_001135244.1(TCOF1): c.579G> A (p.Ala193=) single nucleotide variant Benign/Likely benign rs142965998 GRCh38 Chromosome 5, 150369542: 150369542
39 TCOF1 NM_001135244.1(TCOF1): c.1028G> A (p.Ser343Asn) single nucleotide variant Benign/Likely benign rs144327167 GRCh37 Chromosome 5, 149753894: 149753894
40 TCOF1 NM_001135244.1(TCOF1): c.1028G> A (p.Ser343Asn) single nucleotide variant Benign/Likely benign rs144327167 GRCh38 Chromosome 5, 150374331: 150374331
41 TCOF1 NM_001135244.1(TCOF1): c.1083+39G> A single nucleotide variant Benign rs56113366 GRCh37 Chromosome 5, 149753988: 149753988
42 TCOF1 NM_001135244.1(TCOF1): c.1083+39G> A single nucleotide variant Benign rs56113366 GRCh38 Chromosome 5, 150374425: 150374425
43 TCOF1 NM_001135244.1(TCOF1): c.1086G> A (p.Ala362=) single nucleotide variant Likely benign rs151344568 GRCh38 Chromosome 5, 150374619: 150374619
44 TCOF1 NM_001135244.1(TCOF1): c.1086G> A (p.Ala362=) single nucleotide variant Likely benign rs151344568 GRCh37 Chromosome 5, 149754182: 149754182
45 TCOF1 NM_001135244.1(TCOF1): c.1242C> T (p.Ser414=) single nucleotide variant Likely benign rs151344569 GRCh37 Chromosome 5, 149754338: 149754338
46 TCOF1 NM_001135244.1(TCOF1): c.1242C> T (p.Ser414=) single nucleotide variant Likely benign rs151344569 GRCh38 Chromosome 5, 150374775: 150374775
47 TCOF1 NM_001135244.1(TCOF1): c.1278+60G> C single nucleotide variant Benign rs143713714 GRCh37 Chromosome 5, 149754434: 149754434
48 TCOF1 NM_001135244.1(TCOF1): c.1278+60G> C single nucleotide variant Benign rs143713714 GRCh38 Chromosome 5, 150374871: 150374871
49 TCOF1 NM_001135244.1(TCOF1): c.1281G> A (p.Ala427=) single nucleotide variant Benign/Likely benign rs113299143 GRCh37 Chromosome 5, 149754519: 149754519
50 TCOF1 NM_001135244.1(TCOF1): c.1281G> A (p.Ala427=) single nucleotide variant Benign/Likely benign rs113299143 GRCh38 Chromosome 5, 150374956: 150374956

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.
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Pathways for Treacher Collins Syndrome 1

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Pathways related to Treacher Collins Syndrome 1 according to KEGG:

38
# 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 67
Show member pathways
 13.39 EFTUD2 NOP56 POLR1A POLR1C POLR1D POLR3B
2
RNA Polymerase III Transcription Initiation 67
Show member pathways
 12.07 POLR1A POLR1C POLR1D POLR3B
3
RNA Polymerase I Promoter Escape 67
Show member pathways
 11.63 POLR1A POLR1C POLR1D
4
Ribosome biogenesis in eukaryotes 38
11.57 NOP56 TCOF1 WDR43
5
mRNA Splicing - Minor Pathway 67
11.06 EFTUD2 SF3B4 TXNL4A
6
Inhibition of Ribosome Biogenesis by p14(ARF) 65
10.47 POLR1A POLR1C POLR1D
7
Assembly of RNA Polymerase-I Initiation Complex 65
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 nucleolus GO:0005730 9.91 NOLC1 NOP56 POLR1A RPS14 SF3B4 TCOF1
2 nucleoplasm GO:0005654 9.73 EFTUD2 NOLC1 NOP56 OSBPL11 POLI POLR1A
3 spliceosomal complex GO:0005681 9.61 EFTUD2 SF3B4 TXNL4A
4 fibrillar center GO:0001650 9.46 NOLC1 NOP56 TCOF1 WDR43
5 RNA polymerase III complex GO:0005666 9.4 POLR1C POLR3B
6 box C/D snoRNP complex GO:0031428 9.26 NOLC1 NOP56
7 RNA polymerase I complex GO:0005736 8.8 POLR1A POLR1C POLR1D
8 nucleus GO:0005634 10.17 ALX3 EFTUD2 HOXA2 NOLC1 NOP56 POLI

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

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.62 POLR1A POLR1C POLR1D POLR3B
2 rRNA processing GO:0006364 9.56 NOLC1 NOP56 RPS14 WDR43
3 transcription initiation from RNA polymerase I promoter GO:0006361 9.46 POLR1A POLR1C
4 regulation of translation GO:0006417 9.46 KBTBD8 NOLC1 RPS14 TCOF1
5 termination of RNA polymerase I transcription GO:0006363 9.43 POLR1A POLR1C
6 RNA splicing, via transesterification reactions GO:0000375 9.4 SF3B4 TXNL4A
7 neural crest cell development GO:0014032 9.13 KBTBD8 NOLC1 TCOF1
8 embryonic viscerocranium morphogenesis GO:0048703 9.07 HOXA2
9 neural crest formation GO:0014029 8.8 KBTBD8 NOLC1 TCOF1

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.91 EFTUD2 NOLC1 NOP56 RPS14 SF3B4 TCOF1
2 nucleotidyltransferase activity GO:0016779 9.43 POLI POLR1A POLR3B
3 RNA polymerase III activity GO:0001056 9.32 POLR1C POLR3B
4 RNA polymerase I activity GO:0001054 9.16 POLR1A POLR1C
5 RNA polymerase I core binding GO:0001042 8.96 NOLC1 TCOF1
6 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.92 POLR1A POLR1C POLR1D POLR3B
Sources

Sources for Treacher Collins Syndrome 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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