MCID: TRC072
MIFTS: 52

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 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

Characteristics:

Orphanet epidemiological data:

54
franceschetti-klein syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
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:

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 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 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 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
23dysostosis10.5
24venezuelan equine encephalitis10.0EFTUD2, TCOF1, TXNL4A
25post-transplant lymphoproliferative disease10.0POLR1C, POLR3B
26hyperparathyroidism9.9
27hepatitis9.9
28adenoma9.9
29thyroiditis9.9
30parathyroid adenoma9.9
31lymphoma9.8
32pyelonephritis9.7
33lung cancer9.7
34orchitis9.7
35acute pyelonephritis9.7
36microphthalmia, isolated 19.6ALX3, HOXA2
37neural tube defects9.6
38breast cancer9.6
39hematopoietic stem cell transplantation9.6
40colitis9.6
41spina bifida occulta9.6
42sarcoma9.6
43graves' disease9.6
44cerebritis9.6
45erdheim-chester disease9.6
46horseshoe kidney9.6
47cardiomyopathy9.6
48neuroblastoma9.5
49malaria9.5
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 & Phenotypes for Treacher Collins Syndrome 1

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Symptoms by clinical synopsis from OMIM:

154500

Clinical features from OMIM:

154500

Human phenotypes related to Treacher Collins Syndrome 1:

 64 54 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 54 hallmark (90%) Very frequent (99-80%) HP:0000272
2 small face64 hallmark (90%) HP:0000274
3 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
4 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
5 dental malocclusion64 hallmark (90%) HP:0000689
6 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
7 abnormality of bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0004348
8 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
9 abnormality of the pinna64 77% HP:0000377
10 lower eyelid coloboma64 69% HP:0000652
11 sparse lower eyelashes64 53% HP:0007776
12 low anterior hairline64 54 typical (50%) Frequent (79-30%) HP:0000294
13 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
14 atresia of the external auditory canal64 typical (50%) HP:0000413
15 wide nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0000431
16 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
17 abnormality of the eyelashes64 typical (50%) HP:0000499
18 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
19 cleft eyelid64 54 typical (50%) Frequent (79-30%) HP:0000625
20 frontal bossing64 54 typical (50%) Frequent (79-30%) HP:0002007
21 reduced number of teeth64 54 typical (50%) Frequent (79-30%) HP:0009804
22 visual loss64 37% HP:0000572
23 abnormality of the auditory canal64 36% HP:0000372
24 cleft soft palate64 32% HP:0000185
25 projection of scalp hair onto lateral cheek64 26% HP:0009554
26 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
27 wide mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0000154
28 narrow mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0000160
29 abnormality of parotid gland64 occasional (7.5%) HP:0000197
30 preauricular skin tag64 54 occasional (7.5%) Occasional (29-5%) HP:0000384
31 choanal atresia64 54 occasional (7.5%) Occasional (29-5%) HP:0000453
32 ptosis64 occasional (7.5%) HP:0000508
33 upper eyelid coloboma64 occasional (7.5%) HP:0000636
34 bilateral microphthalmos64 occasional (7.5%) HP:0007633
35 lacrimal duct stenosis64 occasional (7.5%) HP:0007678
36 hypoplasia of the pharynx64 occasional (7.5%) HP:0009555
37 abnormality of cardiovascular system morphology64 occasional (7.5%) HP:0030680
38 scrotal hypoplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000046
39 glossoptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000162
40 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
41 cleft upper lip64 54 occasional (7.5%) Occasional (29-5%) HP:0000204
42 trismus64 occasional (7.5%) HP:0000211
43 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
44 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
45 iris coloboma64 54 occasional (7.5%) Frequent (79-30%) HP:0000612
46 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
47 abnormality of the thyroid gland64 occasional (7.5%) HP:0000820
48 abnormality of the adrenal glands64 54 occasional (7.5%) Occasional (29-5%) HP:0000834
49 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
50 facial cleft64 54 occasional (7.5%) Occasional (29-5%) HP:0002006
51 encephalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0002084
52 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
53 neurological speech impairment64 occasional (7.5%) HP:0002167
54 tracheoesophageal fistula64 54 occasional (7.5%) Occasional (29-5%) HP:0002575
55 multiple enchondromatosis64 54 occasional (7.5%) Occasional (29-5%) HP:0005701
56 abnormality of dental morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0006482
57 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
58 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
59 aplasia/hypoplasia of the thymus64 occasional (7.5%) HP:0010515
60 cognitive impairment64 occasional (7.5%) HP:0100543
61 urogenital fistula64 occasional (7.5%) HP:0100589
62 intellectual disability64 rare (5%) HP:0001249
63 rectovaginal fistula54 Occasional (29-5%)
64 abnormality of the teeth54 Frequent (79-30%)
65 high palate54 Occasional (29-5%)
66 brachycephaly54 Occasional (29-5%)
67 retrognathia54 Very frequent (99-80%)
68 hypoplasia of the maxilla54 Very frequent (99-80%)
69 abnormality of the middle ear54 Frequent (79-30%)
70 absent eyelashes54 Frequent (79-30%)
71 microphthalmia54 Occasional (29-5%)
72 blepharospasm54 Occasional (29-5%)
73 hypoplasia of the thymus54 Occasional (29-5%)
74 abnormality of the vertebral column54 Occasional (29-5%)
75 global developmental delay54 Occasional (29-5%)
76 failure to thrive54 Occasional (29-5%)
77 abnormality of the hair54 Occasional (29-5%)
78 abnormal facial shape54 Very frequent (99-80%)
79 malformation of the heart and great vessels54 Occasional (29-5%)
80 thyroid hypoplasia54 Occasional (29-5%)
81 microtia54 Frequent (79-30%)
82 branchial fistula54 Occasional (29-5%)
83 open bite54 Very frequent (99-80%)
84 short face54 Very frequent (99-80%)
85 narrow internal auditory canal54 Frequent (79-30%)
86 midface retrusion54 Very frequent (99-80%)
87 dysphasia54 Occasional (29-5%)
88 cheekbone underdevelopment54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.6ALX3, NDST1, POLR3B
2GR00196-A-19.6EFTUD2, POLR1A, POLR1C, SF3B4, WDR43

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.5ALX3, DHODH, HOXA2, NDST1, PLCB4, PYGO2

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 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:

36
Bone, Eye, Thyroid, Thymus, Skin, Heart, Adrenal gland

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:

70
id Symbol AA change Variation ID SNP ID
1TCOF1p.Trp53ArgVAR_005630

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:

6
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:000573610.4POLR1A, POLR1C, POLR1D
2DNA-directed RNA polymerase III complexGO:000566610.2POLR1C, POLR1D, POLR3B
3spliceosomal complexGO:00056819.6EFTUD2, SF3B4, TXNL4A
4nucleoplasmGO:00056546.4DHODH, 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:004870310.4HOXA2, NDST1
2RNA splicing, via transesterification reactionsGO:000037510.4SF3B4, TXNL4A
3positive regulation of gene expression, epigeneticGO:004581510.2POLR1A, POLR1C, POLR1D
4termination of RNA polymerase I transcriptionGO:000636310.2POLR1A, POLR1C, POLR1D
5transcription elongation from RNA polymerase I promoterGO:000636210.1POLR1A, POLR1C, POLR1D
6positive regulation of type I interferon productionGO:003248110.0POLR1C, POLR1D, POLR3B
7transcription from RNA polymerase III promoterGO:00063839.9POLR1C, POLR1D, POLR3B
8transcription initiation from RNA polymerase I promoterGO:00063619.6POLR1A, POLR1C, POLR1D

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase I activityGO:000105410.0POLR1A, POLR1C, POLR1D
2RNA polymerase III activityGO:00010569.5POLR1C, POLR1D, POLR3B

Sources for Treacher Collins Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet