TCS1
MCID: TRC072
MIFTS: 66

Treacher Collins Syndrome 1 (TCS1)

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

Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 56 73 29 13 6
Treacher Collins Syndrome 56 12 74 24 52 25 73 36 29 54 6 15 39
Mandibulofacial Dysostosis 56 12 24 52 25 58 73 43 32
Treacher Collins-Franceschetti Syndrome 56 24 52 25 73
Tcof 56 52 73
Mfd1 56 52 73
Tcs 56 52 73
Franceschetti-Klein Syndrome 58 71
Tcs1 56 73
Mandibulofacial Dysostosis Without Limb Anomalies 58
Bilateral and Symmetric Oto-Mandibular Dysplasia 58
Treacher Collins-Franceschetti Syndrome; Tcof 56
Franceschetti-Zwahlen-Klein Syndrome 25
Treacher Collins Syndrome, Type 1 39
Mandibulofacial Dysostosis; Mfd1 56
Treacher Collins Syndrome; Tcs 56
Zygoauromandibular Dysplasia 25
Treacher-Collins Syndrome 58
Franceschetti Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance While the penetrance of pathogenic variants associated with tcs is high, reduced penetrance in tcof1 has also been reported [dixon et al 2004, vincent et al 2016] and polr1d [dauwerse et al 2011, vincent et al 2016].

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Treacher Collins Syndrome 1

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. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and acrofacial dysostosis, cincinnati 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. The drugs Levobupivacaine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are skeletal dysplasia and open bite

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

UniProtKB/Swiss-Prot : 73 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 : 74 Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews: NBK1532

Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

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

(show top 50) (show all 819)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 34.1 SF3B4 POLR1D EFTUD2
2 acrofacial dysostosis, cincinnati type 33.3 WDR43 POLR1D POLR1C POLR1A KBTBD8
3 postaxial acrofacial dysostosis 32.1 TCOF1 SF3B4 POLR1D EFTUD2
4 cleft palate, isolated 31.7 WDR43 TCOF1 SF3B4 POLR1D POLR1C NOL11
5 coloboma of macula 31.6 TCOF1 POLR1D EFTUD2 CFAP47
6 mandibulofacial dysostosis, guion-almeida type 31.6 SF3B4 POLR1D EFTUD2
7 hemifacial microsomia 31.5 TCOF1 POLR1D EFTUD2
8 choanal atresia, posterior 31.3 EFTUD2 CFAP47
9 dysostosis 31.2 TCOF1 SF3B4 POLR1A EFTUD2 CFAP47
10 acrofacial dysostosis 30.8 SF3B4 POLR1D POLR1A EFTUD2 CFAP47
11 macrocytic anemia 30.7 RPS19 RPS14 RPL5 RPL35A RPL11
12 orofacial cleft 30.6 TCOF1 RPS19 RPL5 RPL35A RPL11 POLR1D
13 diamond-blackfan anemia 29.9 UTP4 TCOF1 SBDS RPS19 RPS14 RPL5
14 mandibulofacial dysostosis with alopecia 13.0
15 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.8
16 split-foot deformity with mandibulofacial dysostosis 12.7
17 mandibulofacial dysostosis with macroblepharon and macrostomia 12.6
18 branchial arch syndrome, x-linked 12.5
19 mandibulofacial dysostosis syndrome, bauru type 12.5
20 mandibulofacial dysostosis with ptosis, autosomal dominant 12.5
21 mandibulofacial dysostosis with mental retardation 12.4
22 transcobalamin ii deficiency 12.0
23 oculoauricular syndrome 11.9
24 acrofacial dysostosis, catania type 11.9
25 acrofacial dysostosis syndrome of rodriguez 11.8
26 microtia-anotia 11.5
27 burn-mckeown syndrome 11.5
28 imperforate oropharynx-costo vetebral anomalies 11.4
29 transcobalamin deficiency 11.4
30 uv-sensitive syndrome 11.3
31 tethered spinal cord syndrome 11.3
32 treacher collins syndrome 3 11.2
33 treacher collins syndrome 2 11.2
34 uv-sensitive syndrome 1 11.2
35 cerebrooculofacioskeletal syndrome 4 11.2
36 uv-sensitive syndrome 2 11.2
37 uv-sensitive syndrome 3 11.2
38 microscopic polyangiitis 11.2
39 microtia 10.8
40 sleep apnea 10.7
41 dextrocardia 10.6
42 polyhydramnios 10.5
43 pierre robin syndrome 10.5
44 hyperparathyroidism 10.5
45 weyers acrofacial dysostosis 10.5
46 hypomandibular faciocranial dysostosis 10.5
47 acrofacial dysostosis, palagonia type 10.5
48 acrodysostosis 10.5
49 acrodysostosis with multiple hormone resistance 10.5
50 acrofacial dysostosis, kennedy-teebi type 10.5

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

Human phenotypes related to Treacher Collins Syndrome 1:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
3 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
4 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
5 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
6 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
7 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
8 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
9 malar flattening 58 31 very rare (1%) Very frequent (99-80%) HP:0000272
10 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
11 short face 58 31 hallmark (90%) Very frequent (99-80%) HP:0011219
12 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
13 microtia 58 31 very rare (1%) Frequent (79-30%) HP:0008551
14 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
15 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 conductive hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000405
18 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
19 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
20 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
21 narrow internal auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0011386
22 absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000561
23 eyelid coloboma 31 frequent (33%) HP:0000625
24 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
26 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
29 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
30 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
31 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
32 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
35 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
36 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
37 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
38 choanal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0000453
39 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
40 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
41 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
42 abnormality of the adrenal glands 58 31 occasional (7.5%) Occasional (29-5%) HP:0000834
43 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
44 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
45 abnormality of dental morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0006482
46 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
47 abnormality of the vertebral column 58 31 occasional (7.5%) Occasional (29-5%) HP:0000925
48 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
49 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
50 rectovaginal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000143

Symptoms via clinical synopsis from OMIM:

56
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:

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.25 RPL5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.25 RPL5 SF3B4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.25 NDST1 SF3B4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.25 SF3B4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.25 EFTUD2 RPL5 RPS14 SF3B4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.25 RPL5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.25 EFTUD2 RPL5 RPS14
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.25 EFTUD2 SF3B4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.25 RPL5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.25 SF3B4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.25 NDST1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.25 RPL5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.25 EFTUD2 RPS14 SF3B4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.25 EFTUD2 RPL5 RPS14
15 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.25 NDST1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.25 RPS14
17 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.25 EFTUD2 RPL5 RPS14
18 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.25 RPL5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.25 NDST1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.25 NDST1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.25 EFTUD2 SF3B4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.25 SF3B4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.25 RPL5 RPS14
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.87 POLR1C
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.87 POLR1C RPS14
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.87 POLR1C
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.87 POLR1C
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.87 POLR1C
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 9.87 POLR1C
30 Decreased cell number GR00303-A 9.67 EFTUD2 RPL11 RPL5 RPS19
31 FOXO1 nuclear localization GR00247-A-1 9.63 EFTUD2 NDST1 RPL11 WDR43
32 FOXO1 nuclear localization GR00247-A-2 9.63 EFTUD2 RPL11
33 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.56 POLR1A
34 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.56 POLR1A RPL35A WDR43
35 Nuclear 60S biogenesis defects GR00209-A-3 8.92 RPL11 RPL35A RPL5 WDR43

MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 EFTUD2 NDST1 POLR1A POLR1D RPS19 SBDS

Drugs & Therapeutics for Treacher Collins Syndrome 1

Drugs for Treacher Collins Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levobupivacaine Approved, Investigational 27262-47-1 92253
2
Ropivacaine Approved 84057-95-4 71273 175805
3 Immunoglobulins
4 Antibodies
5 Antibodies, Monoclonal
6 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Suitable Method for Routine Diagnostics of EER in Children With Otitis Media With Effusion Completed NCT02183974
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion Completed NCT02183961
4 Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial Recruiting NCT04212611 INFRA ORBITAL BLOCK
5 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

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 1 29 TCOF1
2 Treacher Collins Syndrome 29

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

40
Bone, Eye, Heart, Thymus, Thyroid, Adrenal Gland, Skin

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 687)
# Title Authors PMID Year
1
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 6 56 54 24 61
11013442 2000
2
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. 61 6 56 24 54
9096354 1997
3
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 6 56 24 61
9042910 1997
4
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. 6 56 61 54
19050407 2009
5
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. 61 56 54 6
15214011 2004
6
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. 56 6 61
24108658 2013
7
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. 54 24 61 56
15340364 2004
8
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. 6 24 61 54
15039977 2004
9
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 61 56 24
29364875 2018
10
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 24 56 61
25790162 2016
11
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 61 6 24
24603435 2014
12
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 6 24 61
21131976 2011
13
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. 24 61 6
8563749 1996
14
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. 56 6
4061487 1985
15
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). 24 56 61
6024864 1967
16
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 24 56
22317976 2012
17
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. 54 61 56
20106873 2010
18
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. 6 61 54
14598341 2003
19
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. 24 6
12114482 2002
20
Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. 56 54 61
10545604 1999
21
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. 56 54 61
8488840 1993
22
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. 54 56 61
1303194 1992
23
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. 54 61 24
19572402 2009
24
Treacher Collins syndrome: etiology, pathogenesis and prevention. 54 61 24
19107148 2009
25
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. 61 54 24
15930015 2005
26
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. 54 61 24
15759264 2005
27
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. 56 61
15534141 2004
28
Treacher Collins Syndrome 61 6
20301704 2004
29
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. 61 54 24
15150774 2004
30
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. 56 61
12939661 2003
31
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. 24 61 54
12777385 2003
32
Mutation testing in Treacher Collins Syndrome. 61 54 24
12444270 2002
33
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. 54 61 24
10982400 2000
34
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. 61 54 24
10888597 2000
35
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 56 61
9736782 1998
36
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 54 24 61
8894686 1996
37
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. 56 61
8818950 1996
38
Treacher Collins syndrome. 56 61
8875242 1996
39
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. 56 61
8741923 1996
40
Mild mandibulofacial dysostosis in a child with a deletion of 3p. 61 56
8322816 1993
41
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. 56 61
1765376 1991
42
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. 56 61
1684950 1991
43
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. 56 61
1676560 1991
44
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. 56 61
1671319 1991
45
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. 56 61
3474899 1987
46
Older paternal age and fresh gene mutation: data on additional disorders. 56 61
1110452 1975
47
THE TREACHER-COLLINS SYNDROME. 61 56
14216013 1964
48
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. 61 24
28927774 2017
49
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. 61 24
27448281 2016
50
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. 24 61
23695276 2014

Variations for Treacher Collins Syndrome 1

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCOF1 NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs)duplication Pathogenic 419066 rs1554080460 5:149776031-149776032 5:150396468-150396469
2 TCOF1 NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs)duplication Pathogenic 436967 rs587776585 5:149777931-149777932 5:150398368-150398369
3 TCOF1 NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs)deletion Pathogenic 452460 rs1554081112 5:149777928-149777931 5:150398365-150398368
4 TCOF1 NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs)deletion Pathogenic 477615 rs1554137419 5:149755988-149755989 5:150376425-150376426
5 TCOF1 NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer)deletion Pathogenic 477619 rs1554081168 5:149777979-149777980 5:150398416-150398417
6 TCOF1 NM_000356.4(TCOF1):c.2052_2053CT[1] (p.Asp684_Ser685insTer)short repeat Pathogenic 477616 rs1554137531 5:149756126-149756127 5:150376563-150376564
7 TCOF1 NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs)deletion Pathogenic 477617 rs1554138819 5:149759232-149759233 5:150379669-150379670
8 TCOF1 NC_000005.10:g.(?_150387882)_(150399068_?)deldeletion Pathogenic 543946 5:149767445-149778631 5:150387882-150399068
9 TCOF1 NM_000356.4(TCOF1):c.1127dup (p.Ala377fs)duplication Pathogenic 543943 rs1554136123 5:149754592-149754593 5:150375029-150375030
10 TCOF1 NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter)SNV Pathogenic 543942 rs1554138811 5:149759231-149759231 5:150379668-150379668
11 TCOF1 NM_000356.4(TCOF1):c.2902dup (p.Glu968fs)duplication Pathogenic 543941 rs1554078461 5:149769534-149769535 5:150389971-150389972
12 TCOF1 NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs)deletion Pathogenic 575668 rs1562347303 5:149754615-149754616 5:150375052-150375053
13 TCOF1 NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs)duplication Pathogenic 575776 rs1561540623 5:149776277-149776278 5:150396714-150396715
14 TCOF1 NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs)duplication Pathogenic 645291 5:149754972-149754973 5:150375409-150375410
15 TCOF1 NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer)deletion Pathogenic 644583 5:149758480-149758480 5:150378917-150378917
16 TCOF1 NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs)deletion Pathogenic 653704 5:149772956-149772956 5:150393393-150393393
17 TCOF1 NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs)deletion Pathogenic 658412 5:149775849-149775850 5:150396286-150396287
18 TCOF1 NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs)deletion Pathogenic 660987 5:149777932-149777936 5:150398369-150398373
19 TCOF1 NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)SNV Pathogenic 694633 5:149771574-149771574 5:150392011-150392011
20 TCOF1 NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)deletion Pathogenic 841345 5:149769493-149769493 5:150389930-150389930
21 TCOF1 NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)duplication Pathogenic 836618 5:149771713-149771714 5:150392150-150392151
22 TCOF1 NM_001371623.1(TCOF1):c.3784+1G>CSNV Pathogenic 845924 5:149773116-149773116 5:150393553-150393553
23 TCOF1 NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter)SNV Pathogenic 3960 rs119470016 5:149753851-149753851 5:150374288-150374288
24 TCOF1 NM_000356.4(TCOF1):c.422dup (p.His141fs)duplication Pathogenic 3961 rs587776580 5:149748321-149748322 5:150368758-150368759
25 TCOF1 NM_000356.4(TCOF1):c.497_500del (p.Asn166fs)deletion Pathogenic 3962 rs587776581 5:149748397-149748400 5:150368834-150368837
26 TCOF1 NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs)short repeat Pathogenic 3963 rs587776582 5:149777936-149777940 5:150398373-150398377
27 TCOF1 NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys)SNV Pathogenic 3964 rs28941769 5:149740759-149740759 5:150361196-150361196
28 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs)short repeat Pathogenic 3965 rs587776583 5:149755048-149755049 5:150375485-150375486
29 TCOF1 NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter)SNV Pathogenic 3966 rs119470017 5:149767567-149767567 5:150388004-150388004
30 TCOF1 NM_000356.4(TCOF1):c.376_378+15deldeletion Pathogenic 3967 rs587776584 5:149747475-149747492 5:150367912-150367929
31 TCOF1 NM_000356.4(TCOF1):c.4134del (p.Glu1379fs)deletion Pathogenic 3968 rs587776585 5:149777932-149777932 5:150398369-150398369
32 TCOF1 NM_000356.4(TCOF1):c.2876dup (p.Ser959fs)duplication Pathogenic 127081 rs587777314 5:149769509-149769510 5:150389946-150389947
33 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs)short repeat Pathogenic 127080 rs587776583 5:149755048-149755051 5:150375485-150375488
34 TCOF1 NM_001371623.1(TCOF1):c.633_634del (p.Val212fs)deletion Pathogenic 802168 5:149749159-149749160 5:150369596-150369597
35 TCOF1 NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs)deletion Pathogenic 802169 5:149776123-149776123 5:150396560-150396560
36 TCOF1 NM_000356.4(TCOF1):c.1047+1G>ASNV Pathogenic 280270 rs886041506 5:149754375-149754375 5:150374812-150374812
37 TCOF1 NM_000356.4(TCOF1):c.386_387del (p.Thr129fs)deletion Pathogenic 212384 rs797046037 5:149748285-149748286 5:150368722-150368723
38 TCOF1 NM_000356.4(TCOF1):c.50A>G (p.His17Arg)SNV Pathogenic/Likely pathogenic 381618 rs1057521108 5:149737359-149737359 5:150357796-150357796
39 TCOF1 NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs)deletion Pathogenic/Likely pathogenic 503704 rs1554081108 5:149777928-149777929 5:150398365-150398366
40 TCOF1 NM_000356.4(TCOF1):c.640-1946C>TSNV Pathogenic/Likely pathogenic 452929 rs748805008 5:149751791-149751791 5:150372228-150372228
41 TCOF1 NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs)deletion Pathogenic/Likely pathogenic 420429 rs1064794474 5:149754683-149754686 5:150375120-150375123
42 TCOF1 NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys)SNV Likely pathogenic 433551 rs764314276 5:149755284-149755284 5:150375721-150375721
43 TCOF1 NC_000005.10:g.(?_150396282)_(150399070_?)deldeletion Likely pathogenic 477614 5:150396282-150399070
44 TCOF1 NC_000005.10:g.(?_150399002)_(150399068_?)deldeletion Likely pathogenic 584260 5:149778565-149778631 5:150399002-150399068
45 TCOF1 NM_000356.4(TCOF1):c.378+1G>ASNV Likely pathogenic 639625 5:149747481-149747481 5:150367918-150367918
46 TCOF1 NM_000356.4(TCOF1):c.2739G>A (p.Ser913=)SNV Conflicting interpretations of pathogenicity 352222 rs370130791 5:149767575-149767575 5:150388012-150388012
47 TCOF1 NM_000356.4(TCOF1):c.2535G>A (p.Ser845=)SNV Conflicting interpretations of pathogenicity 352218 rs369562565 5:149759202-149759202 5:150379639-150379639
48 TCOF1 NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu)SNV Conflicting interpretations of pathogenicity 598625 rs148367422 5:149777989-149777989 5:150398426-150398426
49 TCOF1 NM_000356.4(TCOF1):c.640-1981_640-1964deldeletion Conflicting interpretations of pathogenicity 431981 rs528897827 5:149751746-149751763 5:150372183-150372200
50 TCOF1 NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp)SNV Uncertain significance 644290 5:149743698-149743698 5:150364135-150364135

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

73
# Symbol AA change Variation ID SNP ID
1 TCOF1 p.Trp53Arg VAR_005630

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

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

Expression for Treacher Collins Syndrome 1

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

Pathways for Treacher Collins Syndrome 1

Pathways related to Treacher Collins Syndrome 1 according to KEGG:

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

GO Terms for Treacher Collins Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.28 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2 nucleoplasm GO:0005654 9.86 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
3 fibrillar center GO:0001650 9.67 WDR43 UTP4 TCOF1 NOLC1
4 ribosome GO:0005840 9.65 RPS19 RPS14 RPL5 RPL35A RPL11
5 cytosolic large ribosomal subunit GO:0022625 9.61 RPL5 RPL35A RPL11
6 RNA polymerase III complex GO:0005666 9.46 POLR1D POLR1C
7 nucleolus GO:0005730 9.4 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
8 RNA polymerase I complex GO:0005736 9.33 POLR1D POLR1C POLR1A
9 t-UTP complex GO:0034455 9.32 UTP4 NOL11

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.96 RPS19 RPS14 RPL5 RPL35A RPL11
2 regulation of translation GO:0006417 9.88 TCOF1 RPS14 NOLC1 KBTBD8
3 translational initiation GO:0006413 9.8 RPS19 RPS14 RPL5 RPL35A RPL11
4 transcription, DNA-templated GO:0006351 9.79 POLR1D POLR1C POLR1A
5 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.77 RPS19 RPS14 RPL5 RPL35A RPL11
6 ribosome biogenesis GO:0042254 9.76 WDR43 UTP4 SBDS NOL11
7 transcription initiation from RNA polymerase I promoter GO:0006361 9.72 POLR1D POLR1C POLR1A
8 positive regulation of gene expression, epigenetic GO:0045815 9.71 POLR1D POLR1C POLR1A
9 ribosomal large subunit biogenesis GO:0042273 9.7 RPL5 RPL35A RPL11
10 termination of RNA polymerase I transcription GO:0006363 9.69 POLR1D POLR1C POLR1A
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.67 POLR1D POLR1C POLR1A
12 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.65 UTP4 RPS19 RPS14
13 viral transcription GO:0019083 9.65 RPS19 RPS14 RPL5 RPL35A RPL11
14 ribosomal large subunit assembly GO:0000027 9.62 RPL5 RPL11
15 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.61 RPL5 RPL11
16 neural crest cell development GO:0014032 9.61 TCOF1 NOLC1 KBTBD8
17 ribosomal small subunit assembly GO:0000028 9.6 RPS19 RPS14
18 negative regulation of ubiquitin protein ligase activity GO:1904667 9.59 RPL5 RPL11
19 nucleolus organization GO:0007000 9.58 RPS19 NOLC1
20 negative regulation of protein neddylation GO:2000435 9.57 RPL5 RPL11
21 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.55 RPS19 RPS14 RPL5 RPL35A RPL11
22 neural crest formation GO:0014029 9.5 TCOF1 NOLC1 KBTBD8
23 rRNA processing GO:0006364 9.32 WDR43 UTP4 SBDS RPS19 RPS14 RPL5
24 maturation of SSU-rRNA GO:0030490 9.26 UTP4 RPS19 RPS14 NOL11

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2 structural constituent of ribosome GO:0003735 9.55 RPS19 RPS14 RPL5 RPL35A RPL11
3 rRNA binding GO:0019843 9.54 SBDS RPL5 RPL11
4 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.5 POLR1D POLR1C POLR1A
5 mRNA 5'-UTR binding GO:0048027 9.48 RPS14 RPL5
6 5S rRNA binding GO:0008097 9.46 RPL5 RPL11
7 RNA binding GO:0003723 9.44 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
8 RNA polymerase I core binding GO:0001042 9.43 TCOF1 NOLC1
9 ubiquitin ligase inhibitor activity GO:1990948 9.4 RPL5 RPL11
10 RNA polymerase I activity GO:0001054 9.26 POLR1C POLR1A

Sources for Treacher Collins Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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