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

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Aliases & Descriptions for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 52 70 27 12
Treacher Collins Syndrome 11 71 23 48 24 25 70 50 13
Mandibulofacial Dysostosis 11 23 48 24 25 70 39
Treacher Collins-Franceschetti Syndrome 23 48 24 25 70
Franceschetti-Klein Syndrome 54 68
Treacher-Collins Syndrome 54 27
Mfd1 48 70
Tcof 48 70
Tcs 48 70
Mandibulofacial Dysostosis Without Limb Anomalies 54
Franceschetti-Zwahlen-Klein Syndrome 25
Zygoauromandibular Dysplasia 25
Tcs1 70


Orphanet epidemiological data:

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


treacher collins syndrome 1:
Inheritance: autosomal dominant inheritance


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


External Ids:

OMIM52 154500
Disease Ontology11 DOID:2908
ICD1030 Q75.4
MeSH39 D008342
NCIt45 C75018
Orphanet54 ORPHA861
UMLS via Orphanet69 C0242387, C0265241
ICD10 via Orphanet31 Q75.4

Summaries for Treacher Collins Syndrome 1

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways are RNA Polymerase I Promoter Escape and Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include bone, eye and skin, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased viability of wild-type and TP53 knockout cells.

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

UniProtKB/Swiss-Prot:70 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 for NBK1532

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
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)
idRelated DiseaseScoreTop Affiliating Genes
1mandibulofacial dysostosis with alopecia12.5
2mandibulofacial dysostosis, guion-almeida type12.5
3treacher collins syndrome 212.5
4treacher collins syndrome 312.5
5split-foot deformity with mandibulofacial dysostosis12.3
6diamond blackfan anemia 15 with mandibulofacial dysostosis12.3
7diamond-blackfan anemia 14 with mandibulofacial dysostosis12.3
8mandibulofacial dysostosis with macroblepharon and macrostomia12.1
9polr1d-related treacher collins syndrome12.1
10polr1c-related treacher collins syndrome12.1
11trs2-related diamond-blackfan anemia with mandibulofacial dysostosis12.0
12amyoplasia mandibulofacial dysostosis11.9
13acrofacial dysostosis 1, nager type11.6
14branchial arch syndrome, x-linked11.6
15acrofacial dysostosis, cincinnati type11.5
16tcof1-related treacher collins syndrome11.1
17transcobalamin deficiency11.0
18tethered spinal cord syndrome10.9
19uv-sensitive syndrome 310.8
20uv-sensitive syndrome 210.8
21uv-sensitive syndrome 110.8
22cerebrooculofacioskeletal syndrome 410.8
24mitochondrial respiratory chain complex iii deficiency, uqcc3-related10.2HOXA2, TCOF1
25pulmonary atresia with intact ventricular septum10.1EFTUD2, TXNL4A
26precursor b lymphoblastic lymphoma/leukemia10.1POLR1C, POLR3B
27combined oxidative phosphorylation deficiency 2110.0DHODH, EFTUD2, SF3B4, TXNL4A
32parathyroid adenoma9.9
33glomangiomatosis9.9ALX3, HOXA2
34chromosome 10q23 deletion syndrome9.8DHODH, EFTUD2, POLR1A, SF3B4, TXNL4A
36temple syndrome9.8ALX3, HOXA2
38lung cancer9.7
40acute pyelonephritis9.7
41neural tube defects9.6
42breast cancer9.6
43hematopoietic stem cell transplantation9.6
45spina bifida occulta9.6
47graves' disease9.6
49erdheim-chester disease9.6
50horseshoe kidney9.6

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

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Treacher Collins Syndrome 1:

 54 64 (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 scrotal hypoplasia64 54 Occasional (29-5%) HP:0000046
3 rectovaginal fistula64 54 Occasional (29-5%) HP:0000143
4 wide mouth64 54 Occasional (29-5%) HP:0000154
5 narrow mouth64 54 Occasional (29-5%) HP:0000160
6 glossoptosis64 54 Occasional (29-5%) HP:0000162
7 abnormality of the teeth54 Frequent (79-30%)
8 cleft palate64 54 Occasional (29-5%) HP:0000175
9 cleft upper lip64 54 Occasional (29-5%) HP:0000204
10 high palate64 54 Occasional (29-5%) HP:0000218
11 brachycephaly64 54 Occasional (29-5%) HP:0000248
12 malar flattening64 54 Very frequent (99-80%) HP:0000272
13 retrognathia64 54 Very frequent (99-80%) HP:0000278
14 low anterior hairline64 54 Frequent (79-30%) HP:0000294
15 hypertelorism64 54 Occasional (29-5%) HP:0000316
16 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
17 micrognathia64 54 Very frequent (99-80%) HP:0000347
18 abnormality of the middle ear54 Frequent (79-30%)
19 preauricular skin tag64 54 Occasional (29-5%) HP:0000384
20 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
21 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
22 choanal atresia64 54 Occasional (29-5%) HP:0000453
23 strabismus64 54 Frequent (79-30%) HP:0000486
24 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
25 visual impairment64 54 Frequent (79-30%) HP:0000505
26 cataract64 54 Occasional (29-5%) HP:0000518
27 absent eyelashes64 54 Frequent (79-30%) HP:0000561
28 microphthalmia64 54 Occasional (29-5%) HP:0000568
29 iris coloboma64 54 Frequent (79-30%) HP:0000612
30 cleft eyelid64 54 Frequent (79-30%) HP:0000625
31 blepharospasm64 54 Occasional (29-5%) HP:0000643
32 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
33 hypoplasia of the thymus64 54 Occasional (29-5%) HP:0000778
34 abnormality of the adrenal glands64 54 Occasional (29-5%) HP:0000834
35 abnormality of the vertebral column64 54 Occasional (29-5%) HP:0000925
36 global developmental delay64 54 Occasional (29-5%) HP:0001263
37 failure to thrive64 54 Occasional (29-5%) HP:0001508
38 abnormality of the hair54 Occasional (29-5%)
39 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
40 abnormal facial shape54 Very frequent (99-80%)
41 facial cleft64 54 Occasional (29-5%) HP:0002006
42 frontal bossing64 54 Frequent (79-30%) HP:0002007
43 encephalocele64 54 Occasional (29-5%) HP:0002084
44 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
45 malformation of the heart and great vessels54 Occasional (29-5%)
46 tracheoesophageal fistula64 54 Occasional (29-5%) HP:0002575
47 abnormality of bone mineral density64 54 Very frequent (99-80%) HP:0004348
48 multiple enchondromatosis64 54 Occasional (29-5%) HP:0005701
49 thyroid hypoplasia64 54 Occasional (29-5%) HP:0005990
50 abnormality of dental morphology64 54 Occasional (29-5%) HP:0006482
51 microtia64 54 Frequent (79-30%) HP:0008551
52 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
53 branchial fistula64 54 Occasional (29-5%) HP:0009795
54 reduced number of teeth64 54 Frequent (79-30%) HP:0009804
55 open bite64 54 Very frequent (99-80%) HP:0010807
56 short face64 54 Very frequent (99-80%) HP:0011219
57 narrow internal auditory canal64 54 Frequent (79-30%) HP:0011386
58 midface retrusion64 54 Very frequent (99-80%) HP:0011800
59 dysphasia64 54 Occasional (29-5%) HP:0002357
60 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
61 cheekbone underdevelopment54 Very frequent (99-80%)
62 cleft soft palate64 HP:0000185
63 abnormality of parotid gland64 HP:0000197
64 abnormality of the auditory canal64 HP:0000372
65 abnormality of the pinna64 HP:0000377
66 ptosis64 HP:0000508
67 visual loss64 HP:0000572
68 upper eyelid coloboma64 HP:0000636
69 lower eyelid coloboma64 HP:0000652
70 intellectual disability64 HP:0001249
71 bilateral microphthalmos64 HP:0007633
72 lacrimal duct stenosis64 HP:0007678
73 sparse lower eyelashes64 HP:0007776
74 projection of scalp hair onto lateral cheek64 HP:0009554
75 hypoplasia of the pharynx64 HP:0009555
76 abnormality of cardiovascular system morphology64 HP:0030680
77 hypoplasia of the zygomatic bone64 HP:0010669

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

idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.6ALX3, NDST1, POLR3B
2GR00196-A-18.4EFTUD2, NOLC1, POLR1A, POLR1C, SF3B4, WDR43

Drugs & Therapeutics for Treacher Collins Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative CellsCompletedNCT01674439Phase 2
2Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in ChildrenUnknown statusNCT01664234
3Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
4Stentless Endoscopic Transnasal Transseptal ChoanoplastyRecruitingNCT03167463
5Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
6Natural History of Craniofacial Anomalies and Developmental Growth VariantsRecruitingNCT02639312
7Role of Mesenchymal Stem Cells in Fat GraftingNot yet recruitingNCT02494752

Search NIH Clinical Center for Treacher Collins Syndrome 1

Cochrane evidence based reviews: mandibulofacial dysostosis

Genetic Tests for Treacher Collins Syndrome 1

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Genetic tests related to Treacher Collins Syndrome 1:

id Genetic test Affiliating Genes
1 Treacher Collins Syndrome27 24 TCOF1
2 Treacher Collins Syndrome 127

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

Bone, Eye, Skin, Adrenal gland, Heart, Thymus, Thyroid

Publications for Treacher Collins Syndrome 1

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Variations for Treacher Collins Syndrome 1

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Treacher Collins Syndrome 1:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TCOF1NM_ 000356.3(TCOF1): c.1406_ 1409delAGAG (p.Glu469Alafs)deletionPathogenicrs587777313GRCh38Chr 5, 150375487: 150375490
2TCOF1NM_ 000356.3(TCOF1): c.2876dupG (p.Ser959Argfs)duplicationPathogenicrs587777314GRCh38Chr 5, 150389947: 150389947
3TCOF1NM_ 000356.3(TCOF1): c.386_ 387delCA (p.Thr129Argfs)deletionPathogenicrs797046037GRCh37Chr 5, 149748286: 149748287
4TCOF1NM_ 000356.3(TCOF1): c.754C> T (p.Gln252Ter)SNVPathogenicrs119470016GRCh37Chr 5, 149753851: 149753851
5TCOF1NM_ 000356.3(TCOF1): c.422dupA (p.His141Glnfs)duplicationPathogenicrs587776580GRCh38Chr 5, 150368759: 150368759
6TCOF1NM_ 000356.3(TCOF1): c.497_ 500delATAC (p.Asn166Ilefs)deletionPathogenicrs587776581GRCh38Chr 5, 150368834: 150368837
7TCOF1NM_ 000356.3(TCOF1): c.4138_ 4142delAAGAA (p.Lys1380Glufs)deletionPathogenicrs587776582GRCh38Chr 5, 150398380: 150398384
8TCOF1NM_ 000356.3(TCOF1): c.149A> G (p.Tyr50Cys)SNVPathogenicrs28941769GRCh37Chr 5, 149740759: 149740759
9TCOF1NM_ 000356.3(TCOF1): c.1408_ 1409delAG (p.Ser470Glnfs)deletionPathogenicrs587776583GRCh38Chr 5, 150375489: 150375490
10TCOF1NM_ 000356.3(TCOF1): c.2731C> T (p.Arg911Ter)SNVPathogenicrs119470017GRCh37Chr 5, 149767567: 149767567
11TCOF1NM_ 000356.3(TCOF1): c.376_ 378+15del18deletionPathogenicrs587776584GRCh38Chr 5, 150367915: 150367932
12TCOF1NM_ 000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs)deletionPathogenicrs587776585GRCh38Chr 5, 150398376: 150398376

Copy number variations for Treacher Collins Syndrome 1 from CNVD:

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11952815149717427149760064MicrodeletionsTCOF1Treacher Collins syndrome

Expression for genes affiliated with Treacher Collins Syndrome 1

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

Pathways for genes affiliated with Treacher Collins Syndrome 1

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GO Terms for genes affiliated with Treacher Collins Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase I complexGO:000573610.5POLR1A, POLR1C, POLR1D
2DNA-directed RNA polymerase III complexGO:000566610.4POLR1C, POLR1D, POLR3B
3fibrillar centerGO:000165010.1NOP56, TCOF1, WDR43
4spliceosomal complexGO:000568110.0EFTUD2, SF3B4, TXNL4A
5U4/U6 x U5 tri-snRNP complexGO:00465409.9EFTUD2, TXNL4A
6nucleolusGO:00057309.2NOLC1, NOP56, POLR1A, TCOF1, WDR43
7nucleoplasmGO:00056546.8DHODH, EFTUD2, NOLC1, NOP56, POLR1A, POLR1C
8nucleusGO:00056345.2ALX3, EFTUD2, HOXA2, NOLC1, NOP56, PLCB4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1embryonic viscerocranium morphogenesisGO:004870310.5HOXA2, NDST1
2RNA splicing, via transesterification reactionsGO:000037510.4SF3B4, TXNL4A
3neural crest cell developmentGO:001403210.4NOLC1, TCOF1
4neural crest formationGO:001402910.4NOLC1, TCOF1
5positive regulation of gene expression, epigeneticGO:004581510.3POLR1A, POLR1C, POLR1D
6termination of RNA polymerase I transcriptionGO:000636310.2POLR1A, POLR1C, POLR1D
7transcription elongation from RNA polymerase I promoterGO:000636210.2POLR1A, POLR1C, POLR1D
8positive regulation of type I interferon productionGO:003248110.1POLR1C, POLR1D, POLR3B
9transcription from RNA polymerase III promoterGO:000638310.0POLR1C, POLR1D, POLR3B
10transcription initiation from RNA polymerase I promoterGO:00063619.7POLR1A, POLR1C, POLR1D

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase I core bindingGO:000104210.0NOLC1, TCOF1
2RNA polymerase I activityGO:000105410.0POLR1A, POLR1C, POLR1D
3DNA-directed 5-3 RNA polymerase activityGO:00038999.6POLR1A, POLR1C, POLR1D, POLR3B
4RNA polymerase III activityGO:00010569.6POLR1C, POLR1D, POLR3B

Sources for Treacher Collins Syndrome 1

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet