Treacher Collins Syndrome 1 malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Treacher Collins Syndrome 1

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49OMIM, 11diseasecard, 24GTR, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 36MeSH, 51Orphanet, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
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Aliases & Descriptions for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 49 11 24 67
Treacher Collins Syndrome 10 68 21 45 22 23 47 12 67
Mandibulofacial Dysostosis 10 21 45 22 23 36 67
Treacher Collins-Franceschetti Syndrome 21 45 22 23 67
Franceschetti-Klein Syndrome 51 65
Treacher-Collins Syndrome 51 24
Mfd1 45 67
Tcof 45 67
Tcs 45 67
Mandibulofacial Dysostosis Without Limb Anomalies 51
Franceschetti-Zwahlen-Klein Syndrome 23
Zygoauromandibular Dysplasia 23
Franceschetti Syndrome 10
Tcs1 67


Characteristics (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

External Ids:

OMIM49 154500
Disease Ontology10 DOID:2908
NCIt42 C75018
Orphanet51 861
ICD10 via Orphanet28 Q75.4
UMLS via Orphanet66 C0242387, C0265241
ICD1027 Q75.4

Summaries for Treacher Collins Syndrome 1

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NIH Rare Diseases:45 Treacher collins syndrome (tcs) is a condition that affects the development of bones and other tissues in the face. the signs and symptoms of this disorder 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 it is due to the tcof1 or polr1d gene, it is inherited in an autosomal dominant manner. about 60% of these cases are due to a new mutation in the gene and are not inherited from a parent. when it is due to the polr1c gene, it is inherited in an autosomal recessive manner. in some cases, the genetic cause of the condition is unknown. last updated: 10/27/2014

MalaCards based summary: Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and dysostosis, and has symptoms including malar flattening, small face and micrognathia. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacher Collins-Franceschetti Syndrome 1), and among its related pathways are Inhibition of Ribosome Biogenesis by p14(ARF) and Assembly of RNA Polymerase-I Initiation Complex. Affiliated tissues include bone, eye and thyroid.

Genetics Home Reference:23 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:49 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the... (154500) more...

UniProtKB/Swiss-Prot:67 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 summary for tcs

Related Diseases for Treacher Collins Syndrome 1

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Diseases in the Familial Treacher Collins Syndrome family:

treacher collins syndrome 1 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 677)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis 1, nager type30.8DHODH, EFTUD2, SF3B4, TXNL4A
3mandibulofacial dysostosis, guion-almeida type11.0
4treacher collins syndrome 210.9
5treacher collins syndrome 310.8
7familial treacher collins syndrome10.7
8choanal atresia10.7
9sleep apnea10.7
10mandibulofacial dysostosis with alopecia10.6
11obstructive sleep apnea10.6
12polr1c-related treacher collins syndrome10.6
13polr1d-related treacher collins syndrome10.6
14x-linked mandibulofacial dysostosis10.6
15diamond blackfan anemia 15 with mandibulofacial dysostosis10.6
16diamond-blackfan anemia 14 with mandibulofacial dysostosis10.6
17amyoplasia mandibulofacial dysostosis10.5
18patterson stevenson syndrome10.5
20hemifacial microsomia10.5
21ectodermal dysplasia10.5
23mandibulofacial dysostosis - macroblepharon - macrostomia10.5
24tcof1-related treacher collins syndrome10.4
25acrofacial dysostosis, cincinnati type10.4
26breast cancer10.4
27lung cancer10.3
28endocrine gland cancer10.3
30angelman syndrome10.3
33diamond-blackfan anemia10.3
39down syndrome10.3
46retinal detachment10.3
49speech disorder10.3

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:



 51 (show all 64)
  • facial dysmorphism
  • small face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • mid-facial hypoplasia/short/small midface
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic mandibula/partial absence of the mandibula
  • dental malocclusion
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • bone/osseous hypoplasia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • frontal bossing/prominent forehead
  • low hair line-front
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • anomalies of eyelids, eyelashes and lacrimal system
  • coloboma of the eyelid
  • absent/decreased lashes
  • broad nasal root
  • anomalies of teeth and dentition
  • anodontia/oligodontia/hypodontia
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • conductive deafness/hearing loss
  • brachycephaly/flat occiput
  • hypertelorism
  • limited opening of the mouth
  • facial cleft
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • cataract/lens opacification
  • choanal atresia
  • macrostomia/big mouth
  • cleft lip
  • glossoptosis
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • tooth shape anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • enamel anomaly
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • preauricular/branchial tags/appendages
  • anomalies of spine, vertebrae and pelvis
  • hair and scalp anomalies
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • patent ductus arteriosus
  • thymic aplasia/hypoplasia
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • adrenal glands anomalies
  • encephalocele/exencephaly
  • dystonia/torticollis/writer's cramp/blepharospasms
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • enchondroses
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Treacher Collins Syndrome 1:

(show all 70)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 small face hallmark (90%) HP:0000274
3 micrognathia hallmark (90%) HP:0000347
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 dental malocclusion hallmark (90%) HP:0000689
6 skeletal dysplasia hallmark (90%) HP:0002652
7 abnormality of bone mineral density hallmark (90%) HP:0004348
8 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
9 malar flattening 89% HP:0000272
10 downslanted palpebral fissures 89% HP:0000494
11 micrognathia 78% HP:0000347
12 abnormality of the pinna 77% HP:0000377
13 lower eyelid coloboma 69% HP:0000652
14 sparse lower eyelashes 53% HP:0007776
15 low anterior hairline typical (50%) HP:0000294
16 conductive hearing impairment typical (50%) HP:0000405
17 atresia of the external auditory canal typical (50%) HP:0000413
18 wide nasal bridge typical (50%) HP:0000431
19 strabismus typical (50%) HP:0000486
20 abnormality of the eyelashes typical (50%) HP:0000499
21 visual impairment typical (50%) HP:0000505
22 cleft eyelid typical (50%) HP:0000625
23 frontal bossing typical (50%) HP:0002007
24 reduced number of teeth typical (50%) HP:0009804
25 conductive hearing impairment 40% HP:0000405
26 visual loss 37% HP:0000572
27 abnormality of the auditory canal 36% HP:0000372
28 cleft soft palate 32% HP:0000185
29 projection of scalp hair onto lateral cheek 26% HP:0009554
30 cryptorchidism occasional (7.5%) HP:0000028
31 wide mouth occasional (7.5%) HP:0000154
32 narrow mouth occasional (7.5%) HP:0000160
33 abnormality of parotid gland occasional (7.5%) HP:0000197
34 preauricular skin tag occasional (7.5%) HP:0000384
35 choanal atresia occasional (7.5%) HP:0000453
36 strabismus occasional (7.5%) HP:0000486
37 ptosis occasional (7.5%) HP:0000508
38 upper eyelid coloboma occasional (7.5%) HP:0000636
39 malformation of the heart and great vessels occasional (7.5%) HP:0002564
40 bilateral microphthalmos occasional (7.5%) HP:0007633
41 lacrimal duct stenosis occasional (7.5%) HP:0007678
42 hypoplasia of the pharynx occasional (7.5%) HP:0009555
43 scrotal hypoplasia occasional (7.5%) HP:0000046
44 glossoptosis occasional (7.5%) HP:0000162
45 cleft palate occasional (7.5%) HP:0000175
46 cleft upper lip occasional (7.5%) HP:0000204
47 trismus occasional (7.5%) HP:0000211
48 hypertelorism occasional (7.5%) HP:0000316
49 cataract occasional (7.5%) HP:0000518
50 iris coloboma occasional (7.5%) HP:0000612
51 abnormality of dental enamel occasional (7.5%) HP:0000682
52 abnormality of the thyroid gland occasional (7.5%) HP:0000820
53 abnormality of the adrenal glands occasional (7.5%) HP:0000834
54 patent ductus arteriosus occasional (7.5%) HP:0001643
55 facial cleft occasional (7.5%) HP:0002006
56 encephalocele occasional (7.5%) HP:0002084
57 respiratory insufficiency occasional (7.5%) HP:0002093
58 neurological speech impairment occasional (7.5%) HP:0002167
59 tracheoesophageal fistula occasional (7.5%) HP:0002575
60 multiple enchondromatosis occasional (7.5%) HP:0005701
61 abnormality of dental morphology occasional (7.5%) HP:0006482
62 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
63 hypoplasia of penis occasional (7.5%) HP:0008736
64 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
65 cognitive impairment occasional (7.5%) HP:0100543
66 urogenital fistula occasional (7.5%) HP:0100589
67 intellectual disability rare (5%) HP:0001249
68 autosomal dominant inheritance HP:0000006
69 abnormality of the pinna HP:0000377
70 sparse lower eyelashes HP:0007776

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
2Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
3Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in ChildrenRecruitingNCT01664234
4Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
5Role 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 Syndrome22 24 TCOF1
2 Treacher Collins Syndrome 124

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

Bone, Eye, Thyroid, Testes, Adrenal gland, Skin, Lung

Animal Models for Treacher Collins Syndrome 1 or affiliated genes

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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 24)
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
3POLR1DNM_015972.3(POLR1D): c.163C> G (p.Leu55Val)single nucleotide variantPathogenicrs587777841GRCh37Chr 13, 28197148: 28197148
4TCOF1NM_000356.3(TCOF1): c.386_387delCA (p.Thr129Argfs)deletionPathogenicrs797046037GRCh38Chr 5, 150368723: 150368724
5POLR1CNM_203290.2(POLR1C): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs191582628GRCh37Chr 6, 43488700: 43488700
6POLR1CPOLR1C, IVS8, 4-BP DEL, +3deletionPathogenic
7POLR1CNM_203290.2(POLR1C): c.979A> T (p.Lys327Ter)single nucleotide variantPathogenicrs387907020GRCh37Chr 6, 43488976: 43488976
8POLR1CPOLR1C, 1-BP DEL, 87TdeletionPathogenic
9POLR1CNM_203290.2(POLR1C): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs141156009GRCh37Chr 6, 43488699: 43488699
10POLR1DPOLR1D, ARG87TERsingle nucleotide variantPathogenic
11POLR1DPOLR1D, GLU47LYSsingle nucleotide variantPathogenic
12POLR1DPOLR1D, LEU51ARGsingle nucleotide variantPathogenic
13POLR1DPOLR1D, 2-BP DEL, 326CAdeletionPathogenic
14POLR1DPOLR1D, 2-BP DUP, 263GduplicationPathogenic
15POLR1DPOLR1D, 2-BP INS, 88TGinsertionPathogenic
16TCOF1NM_000356.3(TCOF1): c.754C> T (p.Gln252Ter)single nucleotide variantPathogenicrs119470016GRCh37Chr 5, 149753851: 149753851
17TCOF1NM_000356.3(TCOF1): c.422dupA (p.His141Glnfs)duplicationPathogenicrs587776580GRCh38Chr 5, 150368759: 150368759
18TCOF1NM_000356.3(TCOF1): c.497_500delATAC (p.Asn166Ilefs)deletionPathogenicrs587776581GRCh38Chr 5, 150368834: 150368837
19TCOF1NM_000356.3(TCOF1): c.4138_4142delAAGAA (p.Lys1380Glufs)deletionPathogenicrs587776582GRCh38Chr 5, 150398380: 150398384
20TCOF1NM_000356.3(TCOF1): c.149A> G (p.Tyr50Cys)single nucleotide variantPathogenicrs28941769GRCh37Chr 5, 149740759: 149740759
21TCOF1NM_000356.3(TCOF1): c.1408_1409delAG (p.Ser470Glnfs)deletionPathogenicrs587776583GRCh38Chr 5, 150375489: 150375490
22TCOF1NM_000356.3(TCOF1): c.2731C> T (p.Arg911Ter)single nucleotide variantPathogenicrs119470017GRCh37Chr 5, 149767567: 149767567
23TCOF1NM_000356.3(TCOF1): c.376_378+15del18deletionPathogenicrs587776584GRCh38Chr 5, 150367915: 150367932
24TCOF1NM_000356.3(TCOF1): c.4134delA (p.Glu1379Lysfs)deletionPathogenicrs587776585GRCh38Chr 5, 150398376: 150398376

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes

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:000573610.7POLR1C, POLR1D
2DNA-directed RNA polymerase III complexGO:000566610.5POLR1C, POLR1D
3spliceosomal complexGO:00056819.9EFTUD2, SF3B4, TXNL4A
4nucleoplasmGO:00056547.1DHODH, EFTUD2, HOXA2, NOLC1, NOP56, POLR1C

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase I promoterGO:000636210.5POLR1C, POLR1D
2transcription from RNA polymerase I promoterGO:000636010.5POLR1C, POLR1D
3transcription initiation from RNA polymerase I promoterGO:000636110.5POLR1C, POLR1D
4termination of RNA polymerase I transcriptionGO:000636310.5POLR1C, POLR1D
5transcription from RNA polymerase III promoterGO:000638310.4POLR1C, POLR1D
6transcription elongation from RNA polymerase III promoterGO:000638510.4POLR1C, POLR1D
7termination of RNA polymerase III transcriptionGO:000638610.4POLR1C, POLR1D
8RNA splicing, via transesterification reactionsGO:000037510.3SF3B4, TXNL4A
9embryonic viscerocranium morphogenesisGO:004870310.2HOXA2, NDST1
10middle ear morphogenesisGO:004247410.0HOXA2, NKX3-2
11mRNA splicing, via spliceosomeGO:00003989.7EFTUD2, SF3B4, TXNL4A
12gene expressionGO:00104679.1EFTUD2, POLR1C, POLR1D, SF3B4, TXNL4A

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase I activityGO:000105410.2POLR1C, POLR1D
2DNA-directed RNA polymerase activityGO:000389910.0POLR1C, POLR1D
3RNA polymerase III activityGO:00010569.9POLR1C, POLR1D

Sources for Treacher Collins Syndrome 1

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet