Treacher Collins Syndrome 1 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 51 69 26 12
Treacher Collins Syndrome 11 70 23 47 24 25 69 49 13
Mandibulofacial Dysostosis 11 23 47 24 25 69 38
Treacher Collins-Franceschetti Syndrome 23 47 24 25 69
Franceschetti-Klein Syndrome 53 67
Treacher-Collins Syndrome 53 26
Mfd1 47 69
Tcof 47 69
Tcs 47 69
Mandibulofacial Dysostosis Without Limb Anomalies 53
Franceschetti-Zwahlen-Klein Syndrome 25
Zygoauromandibular Dysplasia 25
Tcs1 69


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:

OMIM51 154500
Disease Ontology11 DOID:2908
ICD1029 Q75.4
MeSH38 D008342
NCIt44 C75018
Orphanet53 ORPHA861
UMLS via Orphanet68 C0242387, C0265241
ICD10 via Orphanet30 Q75.4

Summaries for Treacher Collins Syndrome 1

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NIH Rare Diseases:47 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 acrofacial dysostosis 1, nager type and mandibulofacial dysostosis with alopecia, and has symptoms including malar flattening, small face and micrognathia. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways are Assembly of RNA Polymerase-I Initiation Complex and Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include bone, eye and thyroid, and related mouse phenotype skeleton.

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

UniProtKB/Swiss-Prot:69 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 182)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis 1, nager type31.3DHODH, EFTUD2, PYGO2, SF3B4, TXNL4A
2mandibulofacial dysostosis with alopecia12.6
3mandibulofacial dysostosis, guion-almeida type12.5
4treacher collins syndrome 212.5
5treacher collins syndrome 312.5
6split-foot deformity with mandibulofacial dysostosis12.3
7diamond blackfan anemia 15 with mandibulofacial dysostosis12.3
8diamond-blackfan anemia 14 with mandibulofacial dysostosis12.3
9mandibulofacial dysostosis with macroblepharon and macrostomia12.1
10polr1d-related treacher collins syndrome12.1
11polr1c-related treacher collins syndrome12.1
12amyoplasia mandibulofacial dysostosis11.9
13branchial arch syndrome, x-linked11.6
14acrofacial dysostosis, cincinnati type11.5
15tcof1-related treacher collins syndrome11.1
16transcobalamin deficiency11.0
17tethered spinal cord syndrome10.9
18hyperlipidemia type 310.9
19uv-sensitive syndrome 310.7
20uv-sensitive syndrome 210.7
21uv-sensitive syndrome 110.7
22cerebrooculofacioskeletal syndrome 410.7
24venezuelan equine encephalitis10.0EFTUD2, TCOF1, TXNL4A
25post-transplant lymphoproliferative disease10.0POLR1C, POLR3B
30parathyroid adenoma9.9
33lung cancer9.7
35acute pyelonephritis9.7
36microphthalmia, isolated 19.6ALX3, HOXA2
37neural tube defects9.6
38breast cancer9.6
39hematopoietic stem cell transplantation9.6
41spina bifida occulta9.6
43graves' disease9.6
45erdheim-chester disease9.6
46horseshoe kidney9.6
50obsessive-compulsive disorder9.5

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:

Diseases related to treacher collins syndrome 1

Symptoms 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:

 63 53 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 53 hallmark (90%) Very frequent (99-80%) HP:0000272
2 small face63 hallmark (90%) HP:0000274
3 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
4 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
5 dental malocclusion63 hallmark (90%) HP:0000689
6 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
7 abnormality of bone mineral density63 53 hallmark (90%) Very frequent (99-80%) HP:0004348
8 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
9 abnormality of the pinna63 77% HP:0000377
10 lower eyelid coloboma63 69% HP:0000652
11 sparse lower eyelashes63 53% HP:0007776
12 low anterior hairline63 53 typical (50%) Frequent (79-30%) HP:0000294
13 conductive hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000405
14 atresia of the external auditory canal63 typical (50%) HP:0000413
15 wide nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0000431
16 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
17 abnormality of the eyelashes63 typical (50%) HP:0000499
18 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
19 cleft eyelid63 53 typical (50%) Frequent (79-30%) HP:0000625
20 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
21 reduced number of teeth63 53 typical (50%) Frequent (79-30%) HP:0009804
22 visual loss63 37% HP:0000572
23 abnormality of the auditory canal63 36% HP:0000372
24 cleft soft palate63 32% HP:0000185
25 projection of scalp hair onto lateral cheek63 26% HP:0009554
26 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
27 wide mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0000154
28 narrow mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0000160
29 abnormality of parotid gland63 occasional (7.5%) HP:0000197
30 preauricular skin tag63 53 occasional (7.5%) Occasional (29-5%) HP:0000384
31 choanal atresia63 53 occasional (7.5%) Occasional (29-5%) HP:0000453
32 ptosis63 occasional (7.5%) HP:0000508
33 upper eyelid coloboma63 occasional (7.5%) HP:0000636
34 bilateral microphthalmos63 occasional (7.5%) HP:0007633
35 lacrimal duct stenosis63 occasional (7.5%) HP:0007678
36 hypoplasia of the pharynx63 occasional (7.5%) HP:0009555
37 abnormality of cardiovascular system morphology63 occasional (7.5%) HP:0030680
38 scrotal hypoplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000046
39 glossoptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000162
40 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
41 cleft upper lip63 53 occasional (7.5%) Occasional (29-5%) HP:0000204
42 trismus63 occasional (7.5%) HP:0000211
43 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
44 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
45 iris coloboma63 53 occasional (7.5%) Frequent (79-30%) HP:0000612
46 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
47 abnormality of the thyroid gland63 occasional (7.5%) HP:0000820
48 abnormality of the adrenal glands63 53 occasional (7.5%) Occasional (29-5%) HP:0000834
49 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
50 facial cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0002006
51 encephalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002084
52 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
53 neurological speech impairment63 occasional (7.5%) HP:0002167
54 tracheoesophageal fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0002575
55 multiple enchondromatosis63 53 occasional (7.5%) Occasional (29-5%) HP:0005701
56 abnormality of dental morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0006482
57 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
58 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
59 aplasia/hypoplasia of the thymus63 occasional (7.5%) HP:0010515
60 cognitive impairment63 occasional (7.5%) HP:0100543
61 urogenital fistula63 occasional (7.5%) HP:0100589
62 intellectual disability63 rare (5%) HP:0001249
63 rectovaginal fistula53 Occasional (29-5%)
64 abnormality of the teeth53 Frequent (79-30%)
65 high palate53 Occasional (29-5%)
66 brachycephaly53 Occasional (29-5%)
67 retrognathia53 Very frequent (99-80%)
68 hypoplasia of the maxilla53 Very frequent (99-80%)
69 abnormality of the middle ear53 Frequent (79-30%)
70 absent eyelashes53 Frequent (79-30%)
71 microphthalmia53 Occasional (29-5%)
72 blepharospasm53 Occasional (29-5%)
73 hypoplasia of the thymus53 Occasional (29-5%)
74 abnormality of the vertebral column53 Occasional (29-5%)
75 global developmental delay53 Occasional (29-5%)
76 failure to thrive53 Occasional (29-5%)
77 abnormality of the hair53 Occasional (29-5%)
78 abnormal facial shape53 Very frequent (99-80%)
79 malformation of the heart and great vessels53 Occasional (29-5%)
80 thyroid hypoplasia53 Occasional (29-5%)
81 microtia53 Frequent (79-30%)
82 branchial fistula53 Occasional (29-5%)
83 open bite53 Very frequent (99-80%)
84 short face53 Very frequent (99-80%)
85 narrow internal auditory canal53 Frequent (79-30%)
86 midface retrusion53 Very frequent (99-80%)
87 dysphasia53 Occasional (29-5%)
88 cheekbone underdevelopment53 Very frequent (99-80%)

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
4Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
5Natural History of Craniofacial Anomalies and Developmental Growth VariantsRecruitingNCT02639312
6Role 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 Syndrome26 24 TCOF1
2 Treacher Collins Syndrome 126

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

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

Animal Models for Treacher Collins Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.5ALX3, DHODH, HOXA2, NDST1, PLCB4, PYGO2

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)deletionPathogenicrs797046037GRCh38Chr 5, 150368723: 150368724
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)SNVPathogenicrs119470017GRCh38Chr 5, 150388004: 150388004
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:000573610.3POLR1A, POLR1C, POLR1D
2DNA-directed RNA polymerase III complexGO:000566610.0POLR1C, POLR1D, POLR3B
3spliceosomal complexGO:00056819.9EFTUD2, SF3B4, TXNL4A
4nucleoplasmGO:00056545.9DHODH, EFTUD2, HOXA2, NOP56, POLR1A, POLR1C

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1embryonic viscerocranium morphogenesisGO:004870310.1HOXA2, NDST1
2RNA splicing, via transesterification reactionsGO:000037510.0SF3B4, TXNL4A
3transcription elongation from RNA polymerase I promoterGO:00063629.9POLR1A, POLR1C, POLR1D
4transcription initiation from RNA polymerase I promoterGO:00063619.9POLR1A, POLR1C, POLR1D
5termination of RNA polymerase I transcriptionGO:00063639.9POLR1A, POLR1C, POLR1D
6transcription from RNA polymerase III promoterGO:00063839.7POLR1C, POLR1D, POLR3B
7positive regulation of gene expression, epigeneticGO:00458159.5POLR1A, POLR1C, POLR1D
8positive regulation of type I interferon productionGO:00324819.5POLR1C, POLR1D, POLR3B

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase III activityGO:00010569.5POLR1C, POLR1D, POLR3B
2RNA polymerase I activityGO:00010549.3POLR1A, POLR1C, POLR1D

Sources for Treacher Collins Syndrome 1

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet