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 49 11 67 24
Treacher Collins Syndrome 10 68 21 45 22 23 47 12 67
Mandibulofacial Dysostosis 10 21 45 22 23 67 36
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
Tcs1 67


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


External Ids:

OMIM49 154500
Disease Ontology10 DOID:2908
ICD1027 Q75.4
MeSH36 D008342
NCIt42 C75018
Orphanet51 861
ICD10 via Orphanet28 Q75.4
UMLS via Orphanet66 C0242387, C0265241
UMLS65 C0242387, C0265241

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 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, guion-almeida type, 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 TNF-alpha/NF-kB Signaling Pathway and Assembly of RNA Polymerase-I Initiation Complex. Affiliated tissues include bone, eye and testes, and related mouse phenotypes are craniofacial and skeleton.

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 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 type33.0DHODH, EFTUD2, SF3B4, TXNL4A
2mandibulofacial dysostosis, guion-almeida type12.9
3mandibulofacial dysostosis with alopecia12.9
4treacher collins syndrome 212.8
5treacher collins syndrome 312.8
6diamond-blackfan anemia 14 with mandibulofacial dysostosis12.7
7x-linked mandibulofacial dysostosis12.7
8diamond blackfan anemia 15 with mandibulofacial dysostosis12.7
9polr1d-related treacher collins syndrome12.6
10amyoplasia mandibulofacial dysostosis12.5
11mandibulofacial dysostosis-macroblepharon-macrostomia syndrome12.5
12patterson-stevenson-fontaine syndrome12.0
13tcof1-related treacher collins syndrome11.6
14transcobalamin deficiency11.5
16mercury poisoning10.8
17cicatricial pemphigoid10.6
20hyperlipidemia type 310.4
22uv-sensitive syndrome 310.3
23uv-sensitive syndrome 210.3
24uv-sensitive syndrome 110.3
25cerebrooculofacioskeletal syndrome 410.3
26tethered spinal cord syndrome10.3
29patent foramen ovale10.1
30neonatal candidiasis10.1EFTUD2, TCOF1, TXNL4A
31agnathia-otocephaly complex10.1ALX3, PLCB4
32neonatal abstinence syndrome10.1EFTUD2, SF3B4
33gastrointestinal stromal tumor10.0
34prostate cancer10.0
35breast cancer10.0
36aplastic anemia10.0
37shwachman-diamond syndrome10.0
43poems syndrome10.0
44down syndrome10.0
46duodenal ulcer10.0

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 69)
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 downslanted palpebral fissures 89% HP:0000494
10 malar flattening 89% HP:0000272
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 abnormality of cardiovascular system morphology occasional (7.5%) HP:0030680
31 hypoplasia of the pharynx occasional (7.5%) HP:0009555
32 lacrimal duct stenosis occasional (7.5%) HP:0007678
33 bilateral microphthalmos occasional (7.5%) HP:0007633
34 upper eyelid coloboma occasional (7.5%) HP:0000636
35 ptosis occasional (7.5%) HP:0000508
36 strabismus occasional (7.5%) HP:0000486
37 choanal atresia occasional (7.5%) HP:0000453
38 preauricular skin tag occasional (7.5%) HP:0000384
39 abnormality of parotid gland occasional (7.5%) HP:0000197
40 narrow mouth occasional (7.5%) HP:0000160
41 wide mouth occasional (7.5%) HP:0000154
42 cryptorchidism occasional (7.5%) HP:0000028
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 sparse lower eyelashes HP:0007776
69 abnormality of the pinna HP:0000377

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
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 Syndrome22 TCOF1

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

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

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:00053828.2ALX3, HOXA2, NDST1, NKX3-2, TCOF1
2MP:00053907.9ALX3, DHODH, HOXA2, NDST1, NKX3-2, PLCB4

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)single nucleotide variantPathogenicrs119470016GRCh37Chr 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)single nucleotide variantPathogenicrs28941769GRCh37Chr 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)single nucleotide variantPathogenicrs119470017GRCh37Chr 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

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:000638510.7POLR1C, POLR1D
2positive regulation of type I interferon productionGO:003248110.4POLR1C, POLR1D
3regulation of gene expression, epigeneticGO:004002910.4POLR1C, POLR1D
4transcription from RNA polymerase III promoterGO:000638310.3POLR1C, POLR1D
5embryonic viscerocranium morphogenesisGO:004870310.2HOXA2, NDST1
6RNA splicing, via transesterification reactionsGO:000037510.2SF3B4, TXNL4A
7embryonic skeletal system morphogenesisGO:004870410.1ALX3, HOXA2
8transcription initiation from RNA polymerase I promoterGO:00063619.9POLR1A, POLR1C, POLR1D
9pattern specification processGO:00073899.9ALX3, HOXA2
10middle ear morphogenesisGO:00424749.9HOXA2, NKX3-2
11transcription, DNA-templatedGO:00063518.6ALX3, HOXA2, POLR1A, POLR1C, POLR1D

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase I activityGO:00010549.5POLR1A, POLR1C, 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