TCS1
MCID: TRC072
MIFTS: 62

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 57 12 72 29 13 6
Treacher Collins Syndrome 57 12 73 25 20 43 72 36 29 54 6 15 39
Mandibulofacial Dysostosis 57 12 25 20 43 58 72 44 32
Treacher Collins-Franceschetti Syndrome 57 25 20 43 72
Tcof 57 20 72
Mfd1 57 20 72
Tcs 57 20 72
Franceschetti-Klein Syndrome 58 70
Tcs1 57 72
Mandibulofacial Dysostosis Without Limb Anomalies 58
Bilateral and Symmetric Oto-Mandibular Dysplasia 58
Treacher Collins-Franceschetti Syndrome; Tcof 57
Franceschetti-Zwahlen-Klein Syndrome 43
Treacher Collins Syndrome, Type 1 39
Mandibulofacial Dysostosis; Mfd1 57
Treacher Collins Syndrome; Tcs 57
Zygoauromandibular Dysplasia 43
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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

MedlinePlus Genetics : 43 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 burn-mckeown syndrome. 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 heart, and related phenotypes are skeletal dysplasia and open bite

Disease Ontology : 12 A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

GARD : 20 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® : 57 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). (154500) (Updated 05-Apr-2021)

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 : 72 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 : 73 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
Treacher Collins Syndrome 4

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

(show top 50) (show all 193)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 32.9 TCOF1 SF3B4 POLR1D EFTUD2
2 burn-mckeown syndrome 32.4 SF3B4 POLR1A EFTUD2
3 postaxial acrofacial dysostosis 32.3 TCOF1 SF3B4 POLR1D EFTUD2
4 acrofacial dysostosis, cincinnati type 32.3 WDR43 TCOF1 POLR1D POLR1C POLR1A KBTBD8
5 microtia 31.6 TCOF1 EFTUD2
6 cleft palate, isolated 31.6 WDR43 TCOF1 SF3B4 POLR1D POLR1C NOL11
7 coloboma of macula 31.5 TCOF1 POLR1D POLR1C EFTUD2 CFAP47
8 choanal atresia, posterior 31.3 TCOF1 EFTUD2 CFAP47
9 hemifacial microsomia 31.3 TCOF1 POLR1D POLR1C EFTUD2
10 mandibulofacial dysostosis, guion-almeida type 30.9 SF3B4 POLR1D EFTUD2
11 dysostosis 30.9 TCOF1 SF3B4 POLR1A EFTUD2 CFAP47
12 acrofacial dysostosis 30.5 TCOF1 SF3B4 POLR1D POLR1A EFTUD2 CFAP47
13 macrocytic anemia 30.4 RPS24 RPS19 RPS14 RPL5 RPL11
14 orofacial cleft 30.4 TCOF1 RPS19 RPL5 RPL11 POLR1D
15 diamond-blackfan anemia 30.0 UTP4 TCOF1 SBDS RPS24 RPS19 RPS14
16 treacher collins syndrome 4 11.9
17 mandibulofacial dysostosis with alopecia 11.8
18 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.7
19 branchial arch syndrome, x-linked 11.7
20 split-foot deformity with mandibulofacial dysostosis 11.6
21 oculoauricular syndrome 11.4
22 mandibulofacial dysostosis with macroblepharon and macrostomia 11.4
23 acrofacial dysostosis, catania type 11.3
24 microtia-anotia 11.3
25 mandibulofacial dysostosis syndrome, bauru type 11.2
26 mandibulofacial dysostosis with ptosis, autosomal dominant 11.2
27 acrofacial dysostosis syndrome of rodriguez 11.2
28 mandibulofacial dysostosis with mental retardation 11.1
29 imperforate oropharynx-costo vetebral anomalies 11.1
30 tethered spinal cord syndrome 11.1
31 treacher collins syndrome 3 10.9
32 treacher collins syndrome 2 10.9
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
34 sleep apnea 10.6
35 pierre robin syndrome 10.5
36 polyhydramnios 10.5
37 isolated pierre robin sequence 10.4
38 macrostomia, isolated 10.4
39 microcephaly 10.4
40 dextrocardia 10.3
41 apnea, obstructive sleep 10.3
42 ear malformation 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 tooth agenesis 10.3
45 cleft lip 10.3
46 craniofacial microsomia 10.3
47 orofacial cleft 15 10.3 WDR43 POLR1C
48 dyskeratosis congenita, x-linked 10.3 TCOF1 RPS19 RPL5
49 north american indian childhood cirrhosis 10.3 WDR43 UTP4 NOL11
50 leukodystrophy, hypomyelinating, 11 10.3 POLR1C POLR1A

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 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 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
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 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
25 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
26 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
27 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
28 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
29 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
30 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
31 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
32 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
35 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
36 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
37 choanal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0000453
38 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
39 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
40 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
41 abnormality of the adrenal glands 58 31 occasional (7.5%) Occasional (29-5%) HP:0000834
42 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

26 (show all 34)
# 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 FOXO1 nuclear localization GR00247-A-1 9.86 EFTUD2 NDST1 RPL11 RPS24 WDR43
31 FOXO1 nuclear localization GR00247-A-2 9.86 EFTUD2 RPL11 RPS24
32 Decreased cell number GR00303-A 9.67 EFTUD2 RPL11 RPL5 RPS19
33 HIV Rev nuclear localization GR00247-A-3 9.33 EFTUD2 RPL11 RPS24
34 Nuclear 60S biogenesis defects GR00209-A-3 8.8 RPL11 RPL5 WDR43

MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 EFTUD2 NDST1 POLR1A POLR1C POLR1D RPL11

Drugs & Therapeutics for Treacher Collins Syndrome 1

Search Clinical Trials , 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
Eye, Bone, Heart, Thymus, Thyroid, Tongue, Salivary Gland

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(show top 50) (show all 712)
# Title Authors PMID Year
1
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. 57 25 54 6 61
15340364 2004
2
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 54 61 6 57 25
11013442 2000
3
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. 57 6 25 54 61
9096354 1997
4
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 25 57 6 61
9042910 1997
5
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 6 57 25
22317976 2012
6
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. 57 6 54 61
19050407 2009
7
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. 6 57 61 54
15214011 2004
8
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. 61 57 6
24108658 2013
9
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. 61 25 54 6
15039977 2004
10
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. 61 54 25 6
10982400 2000
11
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 61 57 6
9736782 1998
12
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 6 25 54 61
8894686 1996
13
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 61 25 57
29364875 2018
14
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25 57 61
25790162 2016
15
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 25 61 6
24603435 2014
16
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 6 25 61
21131976 2011
17
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. 61 6 25
9811939 1998
18
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. 61 6 25
8563749 1996
19
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. 57 6
4061487 1985
20
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). 61 25 57
6024864 1967
21
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. 61 57 54
20106873 2010
22
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. 6 54 61
20003452 2009
23
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. 61 54 6
14598341 2003
24
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. 6 25
12114482 2002
25
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. 61 54 57
10545604 1999
26
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. 54 61 57
8488840 1993
27
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. 61 54 57
1303194 1992
28
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 61 6
29567474 2018
29
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 61 6
26151409 2015
30
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. 6 61
22729243 2012
31
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 6 61
21951868 2011
32
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. 25 54 61
19572402 2009
33
Treacher Collins syndrome: etiology, pathogenesis and prevention. 61 25 54
19107148 2009
34
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. 54 25 61
15930015 2005
35
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. 61 25 54
15759264 2005
36
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. 61 57
15534141 2004
37
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. 54 25 61
15150774 2004
38
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. 61 57
12939661 2003
39
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. 61 54 25
12777385 2003
40
Mutation testing in Treacher Collins Syndrome. 54 61 25
12444270 2002
41
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. 61 54 25
10888597 2000
42
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. 57 61
8818950 1996
43
Treacher Collins syndrome. 57 61
8875242 1996
44
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. 57 61
8741923 1996
45
Mild mandibulofacial dysostosis in a child with a deletion of 3p. 61 57
8322816 1993
46
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. 61 57
1765376 1991
47
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. 57 61
1684950 1991
48
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. 57 61
1676560 1991
49
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. 57 61
1671319 1991
50
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. 61 57
3474899 1987

Variations for Treacher Collins Syndrome 1

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCOF1 NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) SNV Pathogenic 3960 rs119470016 GRCh37: 5:149753851-149753851
GRCh38: 5:150374288-150374288
2 TCOF1 NM_000356.4(TCOF1):c.422dup (p.His141fs) Duplication Pathogenic 3961 rs587776580 GRCh37: 5:149748321-149748322
GRCh38: 5:150368758-150368759
3 TCOF1 NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) Deletion Pathogenic 3962 rs587776581 GRCh37: 5:149748397-149748400
GRCh38: 5:150368834-150368837
4 TCOF1 NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) SNV Pathogenic 3964 rs28941769 GRCh37: 5:149740759-149740759
GRCh38: 5:150361196-150361196
5 TCOF1 NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) SNV Pathogenic 3966 rs119470017 GRCh37: 5:149767567-149767567
GRCh38: 5:150388004-150388004
6 TCOF1 NM_000356.4(TCOF1):c.376_378+15del Deletion Pathogenic 3967 rs587776584 GRCh37: 5:149747475-149747492
GRCh38: 5:150367912-150367929
7 TCOF1 NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) Deletion Pathogenic 3968 rs587776585 GRCh37: 5:149777932-149777932
GRCh38: 5:150398369-150398369
8 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs) Microsatellite Pathogenic 127080 rs587776583 GRCh37: 5:149755048-149755051
GRCh38: 5:150375485-150375488
9 TCOF1 NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) Duplication Pathogenic 127081 rs587777314 GRCh37: 5:149769509-149769510
GRCh38: 5:150389946-150389947
10 TCOF1 NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) Deletion Pathogenic 212384 rs797046037 GRCh37: 5:149748285-149748286
GRCh38: 5:150368722-150368723
11 TCOF1 NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) Duplication Pathogenic 436967 rs587776585 GRCh37: 5:149777931-149777932
GRCh38: 5:150398368-150398369
12 TCOF1 NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) Deletion Pathogenic 477615 rs1554137419 GRCh37: 5:149755988-149755989
GRCh38: 5:150376425-150376426
13 TCOF1 NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) Duplication Pathogenic 543941 rs1554078461 GRCh37: 5:149769534-149769535
GRCh38: 5:150389971-150389972
14 TCOF1 NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) SNV Pathogenic 543942 rs1554138811 GRCh37: 5:149759231-149759231
GRCh38: 5:150379668-150379668
15 TCOF1 NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) Duplication Pathogenic 543943 rs1554136123 GRCh37: 5:149754592-149754593
GRCh38: 5:150375029-150375030
16 TCOF1 NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) Deletion Pathogenic 477619 rs1554081168 GRCh37: 5:149777979-149777980
GRCh38: 5:150398416-150398417
17 TCOF1 NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) Deletion Pathogenic 575668 rs1562347303 GRCh37: 5:149754615-149754616
GRCh38: 5:150375052-150375053
18 TCOF1 NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) Deletion Pathogenic 653704 rs1581210464 GRCh37: 5:149772956-149772956
GRCh38: 5:150393393-150393393
19 TCOF1 NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs) Deletion Pathogenic 658412 rs1581223107 GRCh37: 5:149775849-149775850
GRCh38: 5:150396286-150396287
20 TCOF1 NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs) Deletion Pathogenic 660987 rs587776585 GRCh37: 5:149777932-149777936
GRCh38: 5:150398369-150398373
21 TCOF1 NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) Duplication Pathogenic 645291 rs1581114957 GRCh37: 5:149754972-149754973
GRCh38: 5:150375409-150375410
22 TCOF1 NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) Deletion Pathogenic 802168 rs1581075356 GRCh37: 5:149749159-149749160
GRCh38: 5:150369596-150369597
23 TCOF1 NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) Deletion Pathogenic 802169 rs1581224630 GRCh37: 5:149776123-149776123
GRCh38: 5:150396560-150396560
24 TCOF1 NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs) Duplication Pathogenic 836618 GRCh37: 5:149771713-149771714
GRCh38: 5:150392150-150392151
25 TCOF1 NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer) Deletion Pathogenic 841345 GRCh37: 5:149769493-149769493
GRCh38: 5:150389930-150389930
26 TCOF1 NM_001371623.1(TCOF1):c.3784+1G>C SNV Pathogenic 845924 GRCh37: 5:149773116-149773116
GRCh38: 5:150393553-150393553
27 TCOF1 NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs) Duplication Pathogenic 945790 GRCh37: 5:149755071-149755072
GRCh38: 5:150375508-150375509
28 TCOF1 NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) Microsatellite Pathogenic 947528 GRCh37: 5:149753883-149753884
GRCh38: 5:150374320-150374321
29 TCOF1 NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter) SNV Pathogenic 948571 GRCh37: 5:149748420-149748420
GRCh38: 5:150368857-150368857
30 TCOF1 NM_001371623.1(TCOF1):c.2384del (p.Ala795fs) Deletion Pathogenic 951863 GRCh37: 5:149758511-149758511
GRCh38: 5:150378948-150378948
31 TCOF1 NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter) SNV Pathogenic 972148 GRCh37: 5:149778000-149778000
GRCh38: 5:150398437-150398437
32 TCOF1 NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter) SNV Pathogenic 938964 GRCh37: 5:149737334-149737334
GRCh38: 5:150357771-150357771
33 TCOF1 NM_001371623.1(TCOF1):c.1389del (p.Ala464fs) Deletion Pathogenic 939140 GRCh37: 5:149754626-149754626
GRCh38: 5:150375063-150375063
34 TCOF1 NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) Deletion Pathogenic 644583 rs1581136492 GRCh37: 5:149758480-149758480
GRCh38: 5:150378917-150378917
35 TCOF1 NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs) Deletion Pathogenic 976240 GRCh37: 5:149754566-149754576
GRCh38: 5:150375003-150375013
36 TCOF1 NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter) Duplication Pathogenic 992395 GRCh37: 5:149758590-149758591
GRCh38: 5:150379027-150379028
37 POLR1D NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) SNV Pathogenic 31049 rs1593275599 GRCh37: 13:28197244-28197244
GRCh38: 13:27623107-27623107
38 POLR1D NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) SNV Pathogenic 31050 rs767196650 GRCh37: 13:28197124-28197124
GRCh38: 13:27622987-27622987
39 POLR1D NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) SNV Pathogenic 31051 rs1593275448 GRCh37: 13:28197137-28197137
GRCh38: 13:27623000-27623000
40 POLR1D POLR1D, 2-BP DEL, 326CA Deletion Pathogenic 31052 GRCh37:
GRCh38:
41 POLR1D NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) Duplication Pathogenic 31053 rs1593275616 GRCh37: 13:28197246-28197247
GRCh38: 13:27623109-27623110
42 POLR1D NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) Duplication Pathogenic 31054 rs1593275363 GRCh37: 13:28197072-28197073
GRCh38: 13:27622935-27622936
43 POLR1D NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) SNV Pathogenic 156464 rs587777841 GRCh37: 13:28197148-28197148
GRCh38: 13:27623011-27623011
44 TCOF1 NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter) SNV Pathogenic 931320 GRCh37: 5:149754300-149754300
GRCh38: 5:150374737-150374737
45 TCOF1 NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) SNV Pathogenic 917989 GRCh37: 5:149776201-149776201
GRCh38: 5:150396638-150396638
46 TCOF1 NM_001371623.1(TCOF1):c.2142+1del Deletion Pathogenic 983523 GRCh37: 5:149755893-149755893
GRCh38: 5:150376330-150376330
47 TCOF1 NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs) Microsatellite Pathogenic 3965 rs587776583 GRCh37: 5:149755048-149755049
GRCh38: 5:150375485-150375486
48 TCOF1 NM_000356.4(TCOF1):c.2052_2053CT[1] (p.Asp684_Ser685insTer) Microsatellite Pathogenic 477616 rs1554137531 GRCh37: 5:149756126-149756127
GRCh38: 5:150376563-150376564
49 TCOF1 NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) Deletion Pathogenic 477617 rs1554138819 GRCh37: 5:149759232-149759233
GRCh38: 5:150379669-150379670
50 TCOF1 NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) Duplication Pathogenic 419066 rs1554080460 GRCh37: 5:149776031-149776032
GRCh38: 5:150396468-150396469

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

72
# 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 10.16 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS24
2 nucleolus GO:0005730 9.73 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
3 ribosome GO:0005840 9.72 RPS24 RPS19 RPS14 RPL5 RPL11
4 fibrillar center GO:0001650 9.71 WDR43 UTP4 TCOF1 NOLC1
5 cytosolic small ribosomal subunit GO:0022627 9.61 RPS24 RPS19 RPS14
6 nucleoplasm GO:0005654 9.55 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS24
7 RNA polymerase III complex GO:0005666 9.46 POLR1D POLR1C
8 t-UTP complex GO:0034455 9.37 UTP4 NOL11
9 RNA polymerase I complex GO:0005736 9.33 POLR1D POLR1C POLR1A

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 RPS24 RPS19 RPS14 RPL5 RPL11
2 regulation of translation GO:0006417 9.87 TCOF1 RPS14 NOLC1 KBTBD8
3 translational initiation GO:0006413 9.8 RPS24 RPS19 RPS14 RPL5 RPL11
4 transcription, DNA-templated GO:0006351 9.77 POLR1D POLR1C POLR1A
5 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.77 RPS24 RPS19 RPS14 RPL5 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 9.7 POLR1D POLR1C POLR1A
9 termination of RNA polymerase I transcription GO:0006363 9.69 POLR1D POLR1C POLR1A
10 transcription elongation from RNA polymerase I promoter GO:0006362 9.67 POLR1D POLR1C POLR1A
11 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.65 UTP4 RPS19 RPS14
12 viral transcription GO:0019083 9.65 RPS24 RPS19 RPS14 RPL5 RPL11
13 ribosomal large subunit assembly GO:0000027 9.62 RPL5 RPL11
14 ribosomal small subunit biogenesis GO:0042274 9.61 RPS24 RPS19
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 9.59 RPS19 RPS14
18 negative regulation of ubiquitin protein ligase activity GO:1904667 9.58 RPL5 RPL11
19 negative regulation of protein neddylation GO:2000435 9.58 RPL5 RPL11
20 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.55 RPS24 RPS19 RPS14 RPL5 RPL11
21 nucleolus organization GO:0007000 9.54 RPS19 NOLC1
22 neural crest formation GO:0014029 9.5 TCOF1 NOLC1 KBTBD8
23 rRNA processing GO:0006364 9.32 WDR43 UTP4 SBDS RPS24 RPS19 RPS14
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 10.41 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS19
2 rRNA binding GO:0019843 9.5 SBDS RPL5 RPL11
3 mRNA 5'-UTR binding GO:0048027 9.46 RPS14 RPL5
4 RNA binding GO:0003723 9.44 WDR43 UTP4 TCOF1 SF3B4 SBDS RPS24
5 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.43 POLR1D POLR1C POLR1A
6 5S rRNA binding GO:0008097 9.4 RPL5 RPL11
7 ubiquitin ligase inhibitor activity GO:1990948 9.37 RPL5 RPL11
8 structural constituent of ribosome GO:0003735 9.35 RPS24 RPS19 RPS14 RPL5 RPL11
9 RNA polymerase I activity GO:0001054 9.16 POLR1C POLR1A

Sources for Treacher Collins Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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