MCID: TRC072
MIFTS: 50

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 50 68 25 12
Treacher Collins Syndrome 11 69 22 46 23 24 13 68 48
Mandibulofacial Dysostosis 11 46 23 24 68 37
Treacher Collins-Franceschetti Syndrome 46 23 24 68
Franceschetti-Klein Syndrome 52 66
Treacher-Collins Syndrome 52 25
Tcof 46 68
 
Mfd1 46 68
Tcs 46 68
Mandibulofacial Dysostosis Without Limb Anomalies 52
Franceschetti-Zwahlen-Klein Syndrome 24
Zygoauromandibular Dysplasia 24
Tcs1 68

Characteristics:

Orphanet epidemiological data:

52
franceschetti-klein syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
treacher collins syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 154500
Disease Ontology11 DOID:2908
ICD1028 Q75.4
MeSH37 D008342
NCIt43 C75018
Orphanet52 ORPHA861
ICD10 via Orphanet29 Q75.4
UMLS via Orphanet67 C0242387, C0265241

Summaries for Treacher Collins Syndrome 1

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NIH Rare Diseases:46 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 craniofacial and respiratory system.

Genetics Home Reference:24 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:50 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the... (154500) more...

UniProtKB/Swiss-Prot:68 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.

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 183)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis 1, nager type31.6DHODH, EFTUD2, PYGO2, SF3B4, TXNL4A
2mandibulofacial dysostosis with alopecia12.5
3mandibulofacial dysostosis, guion-almeida type12.5
4treacher collins syndrome 212.4
5treacher collins syndrome 312.4
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 macrostomia12.3
10polr1d-related treacher collins syndrome12.2
11polr1c-related treacher collins syndrome12.2
12amyoplasia mandibulofacial dysostosis12.1
13branchial arch syndrome, x-linked11.7
14tcof1-related treacher collins syndrome11.2
15transcobalamin deficiency11.1
16dysostosis10.6
17hepatitis10.0
18hyperparathyroidism10.0
19venezuelan equine encephalitis10.0EFTUD2, TCOF1, TXNL4A
20hyperlipidemia type 310.0
21adenoma10.0
22thyroiditis10.0
23parathyroid adenoma10.0
24lymphoma9.9
25uv-sensitive syndrome 39.9
26uv-sensitive syndrome 29.9
27uv-sensitive syndrome 19.9
28cerebrooculofacioskeletal syndrome 49.9
29tethered spinal cord syndrome9.9
30microphthalmia, isolated 19.9ALX3, HOXA2
31primary hyperparathyroidism9.9
32pyelonephritis9.9
33lung cancer9.8
34orchitis9.8
35acute pyelonephritis9.8
36ureter small cell carcinoma9.8ALX3, HOXA2
37neural tube defects9.7
38breast cancer9.7
39hematopoietic stem cell transplantation9.7
40colitis9.7
41spina bifida occulta9.7
42sarcoma9.7
43graves' disease9.7
44cerebritis9.7
45erdheim-chester disease9.7
46horseshoe kidney9.7
47cardiomyopathy9.7
48chromosomal deletion syndrome9.7DHODH, EFTUD2, SF3B4, TXNL4A
49neuroblastoma9.7
50malaria9.7

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:

154500

Clinical features from OMIM:

154500

Symptoms:

 52 (show all 61)
  • cryptorchidism
  • scrotal hypoplasia
  • rectovaginal fistula
  • wide mouth
  • narrow mouth
  • glossoptosis
  • abnormality of the teeth
  • cleft palate
  • cleft upper lip
  • high palate
  • brachycephaly
  • malar flattening
  • retrognathia
  • low anterior hairline
  • hypertelorism
  • hypoplasia of the maxilla
  • micrognathia
  • abnormality of the middle ear
  • preauricular skin tag
  • conductive hearing impairment
  • wide nasal bridge
  • choanal atresia
  • strabismus
  • downslanted palpebral fissures
  • visual impairment
  • cataract
  • absent eyelashes
  • microphthalmos
  • iris coloboma
  • cleft eyelid
  • blepharospasm
  • abnormality of dental enamel
  • hypoplasia of the thymus
  • abnormality of the adrenal glands
  • abnormality of the vertebral column
  • global developmental delay
  • failure to thrive
  • abnormality of the hair
  • patent ductus arteriosus
  • abnormal facial shape
  • facial cleft
  • frontal bossing
  • encephalocele
  • respiratory insufficiency
  • malformation of the heart and great vessels
  • tracheoesophageal fistula
  • abnormality of bone mineral density
  • multiple enchondromatosis
  • thyroid hypoplasia
  • abnormality of dental morphology
  • microtia
  • hypoplasia of penis
  • branchial fistula
  • reduced number of teeth
  • open bite
  • short face
  • narrow internal auditory canal
  • midface retrusion
  • dysphasia
  • skeletal dysplasia
  • cheekbone underdevelopment

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 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 bilateral microphthalmos occasional (7.5%) HP:0007633
40 lacrimal duct stenosis occasional (7.5%) HP:0007678
41 hypoplasia of the pharynx occasional (7.5%) HP:0009555
42 abnormality of cardiovascular system morphology occasional (7.5%) HP:0030680
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 abnormality of the pinna HP:0000377
69 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
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 Syndrome25 23 TCOF1
2 Treacher Collins Syndrome 125

Anatomical Context for Treacher Collins Syndrome 1

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MalaCards organs/tissues related to Treacher Collins Syndrome 1:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.9ALX3, HOXA2, NDST1, NKX3-2, PYGO2, TCOF1
2MP:00053887.6ALX3, HOXA2, NDST1, NKX3-2, PYGO2, TCOF1
3MP:00053817.4ALX3, HOXA2, NDST1, NKX3-2, PYGO2, TCOF1
4MP:00053907.1ALX3, 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:

68
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)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

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

idSuper pathwaysScoreTop Affiliating Genes
110.0POLR1C, POLR1D
210.0POLR1C, POLR1D
39.3NOP56, TCOF1, WDR43

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:000573610.6POLR1C, POLR1D
2DNA-directed RNA polymerase III complexGO:000566610.6POLR1C, POLR1D
3spliceosomal complexGO:00056819.5EFTUD2, SF3B4, TXNL4A
4nucleoplasmGO:00056547.0DHODH, EFTUD2, HOXA2, NOP56, POLR1C, POLR1D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase I promoterGO:000636210.2POLR1C, POLR1D
2transcription initiation from RNA polymerase I promoterGO:000636110.1POLR1C, POLR1D
3termination of RNA polymerase I transcriptionGO:000636310.1POLR1C, POLR1D
4transcription from RNA polymerase III promoterGO:00063839.9POLR1C, POLR1D
5embryonic viscerocranium morphogenesisGO:00487039.9HOXA2, NDST1
6RNA splicing, via transesterification reactionsGO:00003759.8SF3B4, TXNL4A
7middle ear morphogenesisGO:00424749.7HOXA2, NKX3-2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase III activityGO:000105610.0POLR1C, POLR1D
2RNA polymerase I activityGO:00010549.7POLR1C, POLR1D

Sources for Treacher Collins Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet