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TCS1
MCID: TRC072
MIFTS: 66

Treacher Collins Syndrome 1 (TCS1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Treacher Collins Syndrome 1

About this section
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, cincinnati type and cleft palate, isolated. 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 Antibodies, Monoclonal and Pepsin A have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and thyroid, and related phenotypes are malar flattening and skeletal dysplasia

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
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 821)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, cincinnati type 33.3 WDR43 POLR1D POLR1A KBTBD8
2 cleft palate, isolated 31.8 WDR43 TCOF1 POLR1D POLR1C NOL11 EFTUD2
3 coloboma of macula 31.6 TCOF1 POLR1D EFTUD2 CFAP47
4 mandibulofacial dysostosis, guion-almeida type 31.6 SF3B4 POLR1D EFTUD2
5 hemifacial microsomia 31.4 TCOF1 POLR1D EFTUD2
6 choanal atresia, posterior 31.3 EFTUD2 CFAP47
7 dysostosis 31.1 TCOF1 SF3B4 POLR1A EFTUD2 CFAP47
8 acrofacial dysostosis 30.8 SF3B4 POLR1D POLR1A EFTUD2 CFAP47
9 macrocytic anemia 30.7 RPS19 RPS14 RPL5 RPL35A RPL11
10 orofacial cleft 30.6 TCOF1 RPL5 RPL35A RPL11
11 diamond-blackfan anemia 29.9 UTP4 TCOF1 SBDS RPS19 RPS14 RPL5
12 mandibulofacial dysostosis with alopecia 13.0
13 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
14 split-foot deformity with mandibulofacial dysostosis 12.7
15 mandibulofacial dysostosis with macroblepharon and macrostomia 12.6
16 branchial arch syndrome, x-linked 12.5
17 mandibulofacial dysostosis syndrome, bauru type 12.5
18 mandibulofacial dysostosis with ptosis, autosomal dominant 12.5
19 mandibulofacial dysostosis with mental retardation 12.4
20 obsolete: mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome 12.4
21 obsolete: mandibulofacial dysostosis-lymphedema syndrome 12.4
22 acrofacial dysostosis 1, nager type 12.3
23 transcobalamin ii deficiency 12.0
24 oculoauricular syndrome 11.9
25 acrofacial dysostosis, catania type 11.9
26 acrofacial dysostosis syndrome of rodriguez 11.8
27 microtia-anotia 11.5
28 burn-mckeown syndrome 11.5
29 imperforate oropharynx-costo vetebral anomalies 11.4
30 transcobalamin deficiency 11.4
31 uv-sensitive syndrome 11.3
32 tethered spinal cord syndrome 11.3
33 treacher collins syndrome 3 11.2
34 treacher collins syndrome 2 11.2
35 uv-sensitive syndrome 1 11.2
36 cerebrooculofacioskeletal syndrome 4 11.2
37 uv-sensitive syndrome 2 11.2
38 uv-sensitive syndrome 3 11.2
39 microscopic polyangiitis 11.2
40 postaxial acrofacial dysostosis 11.0
41 microtia 10.8
42 sleep apnea 10.7
43 dextrocardia 10.6
44 polyhydramnios 10.5
45 pierre robin syndrome 10.5
46 hyperparathyroidism 10.5
47 weyers acrofacial dysostosis 10.5
48 hypomandibular faciocranial dysostosis 10.5
49 acrofacial dysostosis, palagonia type 10.5
50 acrodysostosis 10.5

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:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 very rare (1%) Very frequent (99-80%) HP:0000272
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
4 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
5 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
8 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
9 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
10 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
11 short face 58 31 hallmark (90%) Very frequent (99-80%) HP:0011219
12 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
13 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
14 microtia 58 31 very rare (1%) Frequent (79-30%) HP:0008551
15 absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000561
16 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
17 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
18 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
19 conductive hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000405
20 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
21 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
22 narrow internal auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0011386
23 eyelid coloboma 31 frequent (33%) HP:0000625
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
26 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
27 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
28 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
29 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
30 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
31 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
32 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
33 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
34 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
35 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
36 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
37 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
38 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
39 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
40 choanal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0000453
41 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
42 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
43 abnormality of the adrenal glands 58 31 occasional (7.5%) Occasional (29-5%) HP:0000834
44 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
45 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
46 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
47 abnormality of dental morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0006482
48 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
49 abnormality of the vertebral column 58 31 occasional (7.5%) Occasional (29-5%) HP:0000925
50 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643

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 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.41 RPL5 SF3B4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.41 RPS14
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.41 EFTUD2 NDST1 RPL5 RPS14 SF3B4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.41 RPL5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.41 NDST1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.41 NDST1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.41 EFTUD2 RPL5 RPS14
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.41 NDST1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.41 SF3B4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.41 RPL5 RPS14
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.32 RPL5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.32 POLR1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.32 POLR1C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.32 EFTUD2 RPL5 RPS14
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.32 EFTUD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.32 RPL5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.32 POLR1C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.32 POLR1C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.32 RPL5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.32 EFTUD2 RPS14
21 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.32 POLR1C RPS14
22 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.32 EFTUD2 POLR1C RPL5 RPS14
23 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.32 RPL5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.32 POLR1C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.32 EFTUD2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.32 POLR1C
27 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.14 EFTUD2 NOLC1 POLR1A POLR1C RPL11 RPL35A
28 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.92 EFTUD2 POLR1A RPL11 RPL35A RPL5 RPS19
29 FOXO1 nuclear localization GR00247-A-1 9.85 EFTUD2 NDST1 RPL11 WDR43
30 FOXO1 nuclear localization GR00247-A-2 9.85 EFTUD2 RPL11
31 Decreased cell number GR00303-A 9.78 EFTUD2 RPL11 RPL5 RPS19
32 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.61 POLR1A RPL35A WDR43
33 Nuclear 40S maturation defects GR00209-A-2 9.33 RPL11 RPS14 UTP4
34 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL35A RPL5 WDR43
35 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.02 RPL11 RPL35A RPL5 RPS14 UTP4

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
Sources

Drugs & Therapeutics for Treacher Collins Syndrome 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal
2 Pepsin A
3 Immunoglobulins
4 Antibodies
5 Gastrointestinal Agents

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 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

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 1 29 TCOF1
2 Treacher Collins Syndrome 29
Sources

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

40
Bone, Eye, Thyroid, Heart, Brain, Breast, Kidney
Sources

Publications for Treacher Collins Syndrome 1

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Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 678)
# 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. 54 61 24 56 6
11013442 2000
2
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. 54 61 24 56 6
9096354 1997
3
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 61 24 56 6
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. 54 61 56 6
19050407 2009
5
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. 54 61 56 6
15214011 2004
6
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. 61 56 6
24108658 2013
7
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. 54 61 24 56
15340364 2004
8
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. 54 61 24 6
15039977 2004
9
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 61 24 56
29364875 2018
10
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 61 24 56
25790162 2016
11
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 61 24 6
24603435 2014
12
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 61 24 6
21131976 2011
13
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. 61 24 6
8563749 1996
14
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. 56 6
4061487 1985
15
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). 61 24 56
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. 54 61 6
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. 54 61 56
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. 54 61 56
8488840 1993
22
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. 54 61 56
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. 54 61 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. 61 56
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. 54 61 24
15150774 2004
30
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. 61 56
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. 54 61 24
12777385 2003
32
Mutation testing in Treacher Collins Syndrome. 54 61 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. 54 61 24
10888597 2000
35
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 61 56
9736782 1998
36
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 54 61 24
8894686 1996
37
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. 61 56
8818950 1996
38
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. 61 56
8741923 1996
39
Treacher Collins syndrome. 61 56
8875242 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. 61 56
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. 61 56
1684950 1991
43
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. 61 56
1676560 1991
44
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. 61 56
1671319 1991
45
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. 61 56
3474899 1987
46
Older paternal age and fresh gene mutation: data on additional disorders. 61 56
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. 61 24
23695276 2014
Sources

Variations for Treacher Collins Syndrome 1

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ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCOF1 NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter)SNV Pathogenic 3960 rs119470016 5:149753851-149753851 5:150374288-150374288
2 TCOF1 NM_000356.4(TCOF1):c.422dup (p.His141fs)duplication Pathogenic 3961 rs587776580 5:149748321-149748322 5:150368758-150368759
3 TCOF1 NM_000356.4(TCOF1):c.497_500del (p.Asn166fs)deletion Pathogenic 3962 rs587776581 5:149748397-149748400 5:150368834-150368837
4 TCOF1 NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs)short repeat Pathogenic 3963 rs587776582 5:149777936-149777940 5:150398373-150398377
5 TCOF1 NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys)SNV Pathogenic 3964 rs28941769 5:149740759-149740759 5:150361196-150361196
6 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs)short repeat Pathogenic 3965 rs587776583 5:149755048-149755049 5:150375485-150375486
7 TCOF1 NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter)SNV Pathogenic 3966 rs119470017 5:149767567-149767567 5:150388004-150388004
8 TCOF1 NM_000356.4(TCOF1):c.376_378+15deldeletion Pathogenic 3967 rs587776584 5:149747475-149747492 5:150367912-150367929
9 TCOF1 NM_000356.4(TCOF1):c.4134del (p.Glu1379fs)deletion Pathogenic 3968 rs587776585 5:149777932-149777932 5:150398369-150398369
10 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs)short repeat Pathogenic 127080 rs587776583 5:149755048-149755051 5:150375485-150375488
11 TCOF1 NM_000356.4(TCOF1):c.2876dup (p.Ser959fs)duplication Pathogenic 127081 rs587777314 5:149769509-149769510 5:150389946-150389947
12 TCOF1 NM_000356.4(TCOF1):c.386_387del (p.Thr129fs)deletion Pathogenic 212384 rs797046037 5:149748285-149748286 5:150368722-150368723
13 TCOF1 NM_000356.4(TCOF1):c.1047+1G>ASNV Pathogenic 280270 rs886041506 5:149754375-149754375 5:150374812-150374812
14 TCOF1 NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs)duplication Pathogenic 419066 rs1554080460 5:149776031-149776032 5:150396468-150396469
15 TCOF1 NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs)duplication Pathogenic 436967 rs587776585 5:149777931-149777932 5:150398368-150398369
16 TCOF1 NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs)deletion Pathogenic 452460 rs1554081112 5:149777928-149777931 5:150398365-150398368
17 TCOF1 NM_000356.4(TCOF1):c.2052_2053CT[1] (p.Asp684_Ser685insTer)short repeat Pathogenic 477616 rs1554137531 5:149756126-149756127 5:150376563-150376564
18 TCOF1 NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs)deletion Pathogenic 477617 rs1554138819 5:149759232-149759233 5:150379669-150379670
19 TCOF1 NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs)deletion Pathogenic 477615 rs1554137419 5:149755988-149755989 5:150376425-150376426
20 TCOF1 NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer)deletion Pathogenic 477619 rs1554081168 5:149777979-149777980 5:150398416-150398417
21 TCOF1 NC_000005.9:g.(?_149767445)_(149778631_?)deldeletion Pathogenic 543946 5:149767445-149778631 5:150387882-150399068
22 TCOF1 NM_000356.4(TCOF1):c.1127dup (p.Ala377fs)duplication Pathogenic 543943 rs1554136123 5:149754592-149754593 5:150375029-150375030
23 TCOF1 NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter)SNV Pathogenic 543942 rs1554138811 5:149759231-149759231 5:150379668-150379668
24 TCOF1 NM_000356.4(TCOF1):c.2902dup (p.Glu968fs)duplication Pathogenic 543941 rs1554078461 5:149769534-149769535 5:150389971-150389972
25 TCOF1 NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs)deletion Pathogenic 575668 rs1562347303 5:149754615-149754616 5:150375052-150375053
26 TCOF1 NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs)duplication Pathogenic 575776 rs1561540623 5:149776277-149776278 5:150396714-150396715
27 TCOF1 NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs)duplication Pathogenic 645291 5:149754972-149754973 5:150375409-150375410
28 TCOF1 NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer)deletion Pathogenic 644583 5:149758480-149758480 5:150378917-150378917
29 TCOF1 NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs)deletion Pathogenic 653704 5:149772956-149772956 5:150393393-150393393
30 TCOF1 NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs)deletion Pathogenic 658412 5:149775849-149775850 5:150396286-150396287
31 TCOF1 NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs)deletion Pathogenic 660987 5:149777932-149777936 5:150398369-150398373
32 TCOF1 NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)SNV Pathogenic 694633 5:149771574-149771574 5:150392011-150392011
33 TCOF1 NM_001371623.1(TCOF1):c.633_634del (p.Val212fs)deletion Pathogenic 802168 5:149749159-149749160 5:150369596-150369597
34 TCOF1 NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs)deletion Pathogenic 802169 5:149776123-149776123 5:150396560-150396560
35 TCOF1 NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs)deletion Pathogenic/Likely pathogenic 503704 rs1554081108 5:149777928-149777929 5:150398365-150398366
36 TCOF1 NM_000356.4(TCOF1):c.640-1946C>TSNV Pathogenic/Likely pathogenic 452929 rs748805008 5:149751791-149751791 5:150372228-150372228
37 TCOF1 NM_000356.4(TCOF1):c.50A>G (p.His17Arg)SNV Pathogenic/Likely pathogenic 381618 rs1057521108 5:149737359-149737359 5:150357796-150357796
38 TCOF1 NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs)deletion Pathogenic/Likely pathogenic 420429 rs1064794474 5:149754683-149754686 5:150375120-150375123
39 TCOF1 NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys)SNV Likely pathogenic 433551 rs764314276 5:149755284-149755284 5:150375721-150375721
40 TCOF1 deletion Likely pathogenic 477614 5:150396282-150399070
41 TCOF1 NC_000005.9:g.(?_149778565)_(149778631_?)deldeletion Likely pathogenic 584260 5:149778565-149778631 5:150399002-150399068
42 TCOF1 NM_000356.4(TCOF1):c.378+1G>ASNV Likely pathogenic 639625 5:149747481-149747481 5:150367918-150367918
43 TCOF1 NM_001371623.1(TCOF1):c.630_631insCTG (p.Asp211_Val212insLeu)insertion Uncertain significance 802167 5:149749156-149749157 5:150369593-150369594
44 TCOF1 NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp)SNV Uncertain significance 644290 5:149743698-149743698 5:150364135-150364135
45 TCOF1 NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val)SNV Uncertain significance 651483 5:149755844-149755844 5:150376281-150376281
46 TCOF1 NM_000356.4(TCOF1):c.640-1973A>GSNV Uncertain significance 566643 rs1562326677 5:149751764-149751764 5:150372201-150372201
47 TCOF1 NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly)SNV Uncertain significance 582289 rs1561543582 5:149777932-149777932 5:150398369-150398369
48 TCOF1 NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val)SNV Uncertain significance 575090 rs369804013 5:149754617-149754617 5:150375054-150375054
49 TCOF1 NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val)SNV Uncertain significance 577581 rs1297478685 5:149775946-149775946 5:150396383-150396383
50 TCOF1 NM_000356.4(TCOF1):c.4140_4142GAA[1] (p.Lys1382_Lys1383del)short repeat Uncertain significance 663739 5:149777943-149777948 5:150398380-150398385

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
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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:

36
# 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 65
Show member pathways
 12.87 WDR43 UTP4 SF3B4 RPS19 RPS14 RPL5
2
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.41 RPS19 RPS14 RPL5 RPL35A RPL11
3
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.36 WDR43 UTP4 RPS19 RPS14 RPL5 RPL35A
4
RNA Polymerase I Promoter Escape 65
Show member pathways
 11.65 POLR1D POLR1C POLR1A
5
Ribosome biogenesis in eukaryotes 36
11.64 WDR43 UTP4 TCOF1 SBDS
6
ATP/ITP metabolism 22
11.51 POLR1D POLR1C POLR1A
7
Inhibition of Ribosome Biogenesis by p14(ARF) 63
10.78 POLR1D POLR1C POLR1A
8
Assembly of RNA Polymerase-I Initiation Complex 63
10.33 POLR1D POLR1C POLR1A
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 nucleus GO:0005634 10.28 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2 intracellular GO:0005622 9.88 RPS19 RPL5 RPL35A RPL11 POLI
3 nucleoplasm GO:0005654 9.86 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
4 fibrillar center GO:0001650 9.67 WDR43 UTP4 TCOF1 NOLC1
5 ribosome GO:0005840 9.65 RPS19 RPS14 RPL5 RPL35A RPL11
6 cytosolic large ribosomal subunit GO:0022625 9.61 RPL5 RPL35A RPL11
7 RNA polymerase III complex GO:0005666 9.46 POLR1D POLR1C
8 nucleolus GO:0005730 9.4 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
9 RNA polymerase I complex GO:0005736 9.33 POLR1D POLR1C POLR1A
10 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 25)
# 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 positive regulation of gene expression, epigenetic GO:0045815 9.72 POLR1D POLR1C POLR1A
8 transcription initiation from RNA polymerase I promoter GO:0006361 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 ribosomal small subunit assembly GO:0000028 9.61 RPS19 RPS14
17 neural crest cell development GO:0014032 9.61 TCOF1 NOLC1 KBTBD8
18 negative regulation of ubiquitin protein ligase activity GO:1904667 9.6 RPL5 RPL11
19 transcription by RNA polymerase I GO:0006360 9.59 POLR1D POLR1C
20 nucleolus organization GO:0007000 9.58 RPS19 NOLC1
21 negative regulation of protein neddylation GO:2000435 9.57 RPL5 RPL11
22 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.55 RPS19 RPS14 RPL5 RPL35A RPL11
23 neural crest formation GO:0014029 9.5 TCOF1 NOLC1 KBTBD8
24 rRNA processing GO:0006364 9.32 WDR43 UTP4 SBDS RPS19 RPS14 RPL5
25 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 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 9.49 RPS14 RPL5
6 RNA polymerase III activity GO:0001056 9.48 POLR1D POLR1C
7 5S rRNA binding GO:0008097 9.46 RPL5 RPL11
8 RNA binding GO:0003723 9.44 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
9 RNA polymerase I core binding GO:0001042 9.43 TCOF1 NOLC1
10 ubiquitin ligase inhibitor activity GO:1990948 9.4 RPL5 RPL11
11 RNA polymerase I activity GO:0001054 9.13 POLR1D POLR1C POLR1A
Sources

Sources for Treacher Collins Syndrome 1

About this section
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
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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