TCS1
MCID: TRC072
MIFTS: 52

Treacher Collins Syndrome 1 (TCS1) malady

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

Aliases & Classifications for Treacher Collins Syndrome 1

Aliases & Descriptions for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 54 66 29 13
Treacher Collins Syndrome 12 71 23 50 24 25 66 52 14
Mandibulofacial Dysostosis 12 23 50 24 25 66 42
Treacher Collins-Franceschetti Syndrome 23 50 24 25 66
Franceschetti-Klein Syndrome 56 69
Treacher-Collins Syndrome 56 29
Mfd1 50 66
Tcof 50 66
Tcs 50 66
Mandibulofacial Dysostosis Without Limb Anomalies 56
Franceschetti-Zwahlen-Klein Syndrome 25
Zygoauromandibular Dysplasia 25
Tcs1 66

Characteristics:

Orphanet epidemiological data:

56
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance of mutations associated with tcs is high, but cases of non-penetrance have been reported...

Classifications:



External Ids:

OMIM 54 154500
Disease Ontology 12 DOID:2908
ICD10 33 Q75.4
MeSH 42 D008342
NCIt 47 C75018
Orphanet 56 ORPHA861
UMLS via Orphanet 70 C0242387 C0265241
ICD10 via Orphanet 34 Q75.4
UMLS 69 C0242387

Summaries for Treacher Collins Syndrome 1

NIH Rare Diseases : 50 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. last updated: 11/11/2015

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to mandibulofacial dysostosis with alopecia and mandibulofacial dysostosis, guion-almeida type, and has symptoms including malar flattening, hypertelorism and frontal bossing. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Gene Expression and Purine metabolism (KEGG). Affiliated tissues include bone, eye and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

OMIM : 54 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the... (154500) more...

UniProtKB/Swiss-Prot : 66 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.

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
Polr1c-Related Treacher Collins Syndrome Polr1d-Related Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome

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

(show top 50) (show all 194)
id Related Disease Score Top Affiliating Genes
1 mandibulofacial dysostosis with alopecia 12.5
2 mandibulofacial dysostosis, guion-almeida type 12.5
3 treacher collins syndrome 2 12.5
4 treacher collins syndrome 3 12.5
5 split-foot deformity with mandibulofacial dysostosis 12.3
6 diamond blackfan anemia 15 with mandibulofacial dysostosis 12.3
7 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.3
8 mandibulofacial dysostosis with macroblepharon and macrostomia 12.1
9 polr1d-related treacher collins syndrome 12.1
10 polr1c-related treacher collins syndrome 12.1
11 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 12.0
12 amyoplasia mandibulofacial dysostosis 11.9
13 acrofacial dysostosis 1, nager type 11.6
14 branchial arch syndrome, x-linked 11.6
15 acrofacial dysostosis, cincinnati type 11.5
16 tcof1-related treacher collins syndrome 11.1
17 transcobalamin deficiency 11.0
18 tethered spinal cord syndrome 10.9
19 cerebrooculofacioskeletal syndrome 4 10.8
20 uv-sensitive syndrome 3 10.8
21 uv-sensitive syndrome 2 10.8
22 uv-sensitive syndrome 1 10.8
23 dysostosis 10.5
24 mitochondrial respiratory chain complex iii deficiency, uqcc3-related 10.2 HOXA2 TCOF1
25 pulmonary atresia with intact ventricular septum 10.1 EFTUD2 TXNL4A
26 precursor b lymphoblastic lymphoma/leukemia 10.1 POLR1C POLR3B
27 combined oxidative phosphorylation deficiency 21 10.0 DHODH EFTUD2 SF3B4 TXNL4A
28 thyroiditis 9.9
29 hyperparathyroidism 9.9
30 hepatitis 9.9
31 adenoma 9.9
32 parathyroid adenoma 9.9
33 glomangiomatosis 9.9 ALX3 HOXA2
34 chromosome 10q23 deletion syndrome 9.8 DHODH EFTUD2 POLR1A SF3B4 TXNL4A
35 lymphoma 9.8
36 temple syndrome 9.8 ALX3 HOXA2
37 pyelonephritis 9.7
38 orchitis 9.7
39 acute pyelonephritis 9.7
40 lung cancer 9.7
41 cardiomyopathy 9.6
42 breast cancer 9.6
43 hematopoietic stem cell transplantation 9.6
44 sarcoma 9.6
45 erdheim-chester disease 9.6
46 colitis 9.6
47 neural tube defects 9.6
48 spina bifida occulta 9.6
49 horseshoe kidney 9.6
50 graves' disease 9.6

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

Symptoms by clinical synopsis from OMIM:

154500

Clinical features from OMIM:

154500

Human phenotypes related to Treacher Collins Syndrome 1:

56 32 (show top 50) (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 hypertelorism 56 32 Occasional (29-5%) HP:0000316
3 frontal bossing 56 32 Frequent (79-30%) HP:0002007
4 high palate 56 32 Occasional (29-5%) HP:0000218
5 failure to thrive 56 32 Occasional (29-5%) HP:0001508
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 dysphasia 56 32 Occasional (29-5%) HP:0002357
8 cataract 56 32 Occasional (29-5%) HP:0000518
9 global developmental delay 56 32 Occasional (29-5%) HP:0001263
10 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
11 open bite 56 32 Very frequent (99-80%) HP:0010807
12 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
13 microtia 56 32 Frequent (79-30%) HP:0008551
14 visual impairment 56 32 Frequent (79-30%) HP:0000505
15 brachycephaly 56 32 Occasional (29-5%) HP:0000248
16 glossoptosis 56 32 Occasional (29-5%) HP:0000162
17 cleft palate 56 32 Occasional (29-5%) HP:0000175
18 micrognathia 56 32 Very frequent (99-80%) HP:0000347
19 retrognathia 56 32 Very frequent (99-80%) HP:0000278
20 strabismus 56 32 Frequent (79-30%) HP:0000486
21 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
22 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
23 wide mouth 56 32 Occasional (29-5%) HP:0000154
24 microphthalmia 56 32 Occasional (29-5%) HP:0000568
25 hypoplasia of the maxilla 56 32 Very frequent (99-80%) HP:0000327
26 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
27 narrow mouth 56 32 Occasional (29-5%) HP:0000160
28 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
29 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
30 hypoplasia of the thymus 56 32 Occasional (29-5%) HP:0000778
31 choanal atresia 56 32 Occasional (29-5%) HP:0000453
32 reduced number of teeth 56 32 Frequent (79-30%) HP:0009804
33 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
34 low anterior hairline 56 32 Frequent (79-30%) HP:0000294
35 tracheoesophageal fistula 56 32 Occasional (29-5%) HP:0002575
36 abnormality of dental morphology 56 32 Occasional (29-5%) HP:0006482
37 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
38 multiple enchondromatosis 56 32 Occasional (29-5%) HP:0005701
39 iris coloboma 56 32 Frequent (79-30%) HP:0000612
40 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
41 abnormality of bone mineral density 56 32 Very frequent (99-80%) HP:0004348
42 rectovaginal fistula 56 32 Occasional (29-5%) HP:0000143
43 cleft upper lip 56 32 Occasional (29-5%) HP:0000204
44 blepharospasm 56 32 Occasional (29-5%) HP:0000643
45 narrow internal auditory canal 56 32 Frequent (79-30%) HP:0011386
46 encephalocele 56 32 Occasional (29-5%) HP:0002084
47 scrotal hypoplasia 56 32 Occasional (29-5%) HP:0000046
48 absent eyelashes 56 32 Frequent (79-30%) HP:0000561
49 cleft eyelid 56 32 Frequent (79-30%) HP:0000625
50 abnormality of the adrenal glands 56 32 Occasional (29-5%) HP:0000834

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.8 ALX3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.8 NDST1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.8 ALX3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.8 POLR3B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.8 ALX3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.8 NDST1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.8 ALX3 NDST1 POLR3B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 NDST1 POLR3B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.8 POLR3B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.8 ALX3 NDST1
11 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.1 EFTUD2 NOLC1 POLR1A POLR1C SF3B4 WDR43

Drugs & Therapeutics for Treacher Collins Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
4 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463
5 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
6 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
7 Role of Mesenchymal Stem Cells in Fat Grafting Not yet recruiting NCT02494752

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:

id Genetic test Affiliating Genes
1 Treacher Collins Syndrome 29 24 TCOF1
2 Treacher Collins Syndrome 1 29

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

39
Bone, Eye, Heart, Skin, Thyroid, Thymus, Adrenal Gland

Publications for Treacher Collins Syndrome 1

Variations for Treacher Collins Syndrome 1

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

66
id Symbol AA change Variation ID SNP ID
1 TCOF1 p.Trp53Arg VAR_005630

ClinVar genetic disease variations for Treacher Collins Syndrome 1:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TCOF1 NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs) deletion Pathogenic rs587776583 GRCh38 Chromosome 5, 150375489: 150375490
2 TCOF1 NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter) single nucleotide variant Pathogenic rs119470016 GRCh37 Chromosome 5, 149753851: 149753851
3 TCOF1 NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs) duplication Pathogenic rs587776580 GRCh38 Chromosome 5, 150368759: 150368759
4 TCOF1 NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs) deletion Pathogenic rs587776581 GRCh38 Chromosome 5, 150368834: 150368837
5 TCOF1 NM_000356.3(TCOF1): c.4138_4142delAAGAA (p.Lys1380Glufs) deletion Pathogenic rs587776582 GRCh38 Chromosome 5, 150398380: 150398384
6 TCOF1 NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys) single nucleotide variant Pathogenic rs28941769 GRCh37 Chromosome 5, 149740759: 149740759
7 TCOF1 NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs119470017 GRCh37 Chromosome 5, 149767567: 149767567
8 TCOF1 NM_000356.3(TCOF1): c.376_378+15del18 deletion Pathogenic rs587776584 GRCh38 Chromosome 5, 150367915: 150367932
9 TCOF1 NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs) deletion Pathogenic rs587776585 GRCh38 Chromosome 5, 150398376: 150398376
10 TCOF1 NM_000356.3(TCOF1): c.1406_1409delAGAG (p.Glu469Alafs) deletion Pathogenic rs587777313 GRCh38 Chromosome 5, 150375487: 150375490
11 TCOF1 NM_000356.3(TCOF1): c.2876dupG (p.Ser959Argfs) duplication Pathogenic rs587777314 GRCh38 Chromosome 5, 150389947: 150389947
12 TCOF1 NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs) deletion Pathogenic rs797046037 GRCh37 Chromosome 5, 149748286: 149748287

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

7
id CNVD ID Chromosom 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

GO Terms for Treacher Collins Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.83 NOLC1 NOP56 POLR1A TCOF1 WDR43
2 nucleoplasm GO:0005654 9.73 DHODH EFTUD2 NOLC1 NOP56 POLR1A POLR1C
3 spliceosomal complex GO:0005681 9.58 EFTUD2 SF3B4 TXNL4A
4 fibrillar center GO:0001650 9.5 NOP56 TCOF1 WDR43
5 DNA-directed RNA polymerase III complex GO:0005666 9.43 POLR1C POLR1D POLR3B
6 U4/U6 x U5 tri-snRNP complex GO:0046540 9.37 EFTUD2 TXNL4A
7 DNA-directed RNA polymerase I complex GO:0005736 8.8 POLR1A POLR1C POLR1D
8 nucleus GO:0005634 10.03 ALX3 EFTUD2 HOXA2 NOLC1 NOP56 PLCB4

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression, epigenetic GO:0045815 9.54 POLR1A POLR1C POLR1D
2 positive regulation of type I interferon production GO:0032481 9.5 POLR1C POLR1D POLR3B
3 RNA splicing, via transesterification reactions GO:0000375 9.48 SF3B4 TXNL4A
4 neural crest cell development GO:0014032 9.46 NOLC1 TCOF1
5 embryonic viscerocranium morphogenesis GO:0048703 9.43 HOXA2 NDST1
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.43 POLR1A POLR1C POLR1D
7 neural crest formation GO:0014029 9.4 NOLC1 TCOF1
8 transcription from RNA polymerase III promoter GO:0006383 9.33 POLR1C POLR1D POLR3B
9 transcription elongation from RNA polymerase I promoter GO:0006362 9.13 POLR1A POLR1C POLR1D
10 termination of RNA polymerase I transcription GO:0006363 8.8 POLR1A POLR1C POLR1D

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase III activity GO:0001056 9.33 POLR1C POLR1D POLR3B
2 RNA polymerase I core binding GO:0001042 9.26 NOLC1 TCOF1
3 RNA polymerase I activity GO:0001054 9.13 POLR1A POLR1C POLR1D
4 DNA-directed 5-3 RNA polymerase activity GO:0003899 8.92 POLR1A POLR1C POLR1D POLR3B

Sources for Treacher Collins Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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