TCS3
MCID: TRC071
MIFTS: 45

Treacher Collins Syndrome 3 (TCS3) malady

Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Treacher Collins Syndrome 3

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to coloboma and treacher collins syndrome, and has symptoms including macrostomia/big mouth, cleft palate without cleft lip/submucosal cleft palate/bifid uvula and enamel anomaly. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (polymerase (RNA) I polypeptide C, 30kDa), and among its related pathways are Purine metabolism and Transcription. The compounds pyrophosphate and phosphoric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung.

Description from OMIM:46 248390,613717,154500

Aliases & Classifications for Treacher Collins Syndrome 3

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Sources:
42NIH Rare Diseases, 46OMIM, 22GTR, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
franceschetti-klein syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

treacher collins syndrome 3 42 46
mandibulofacial dysostosis, treacher collins type, autosomal recessive 42 22 60
franceschetti-klein syndrome 48 60
mandibulofacial dysostosis without limb anomalies 48
treacher-collins syndrome 48
tcs3 42


External Ids:

ICD10 via Orphanet26 Q75.4
SNOMED-CT via Orphanet57 82203000, 62767009

Related Diseases for Treacher Collins Syndrome 3

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Treacher Collins Syndrome 3:



Diseases related to treacher collins syndrome 3

Clinical Features for Treacher Collins Syndrome 3

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46OMIM, 48Orphanet
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Clinical features from OMIM:

248390,613717,154500

Clinical synopsis from OMIM:

248390

Symptoms:

48 (show all 27)
  • macrostomia/big mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • enamel anomaly
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • preauricular/branchial tags/appendages
  • anomalies of spine, vertebrae and pelvis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • choanal atresia
  • conductive deafness/hearing loss
  • anodontia/oligodontia/hypodontia
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • high vaulted/narrow palate
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • autosomal dominant inheritance
  • hypoplastic mandibula/partial absence of the mandibula
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • coloboma of the eyelid
  • absent/decreased lashes
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures

Drugs & Therapeutics for Treacher Collins Syndrome 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Treacher Collins Syndrome 3

Search CenterWatch for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

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22GTR
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Genetic tests related to Treacher Collins Syndrome 3:

id Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive22

Anatomical Context for Treacher Collins Syndrome 3

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32MalaCards
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MalaCards organs/tissues related to Treacher Collins Syndrome 3:

32
Bone, Testes, Lung, Eye

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

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Publications for Treacher Collins Syndrome 3

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Genetic Variations for Treacher Collins Syndrome 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Treacher Collins Syndrome 3:

62
id Symbol AA change Variation ID SNP ID
1POLR1Cp.Arg279GlnVAR_064899rs191582628
2POLR1Cp.Arg279TrpVAR_064900

Expression for genes affiliated with Treacher Collins Syndrome 3

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Treacher Collins Syndrome 3

Search GEO for disease gene expression data for Treacher Collins Syndrome 3.

Pathways for genes affiliated with Treacher Collins Syndrome 3

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Sources:
29KEGG, 12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN
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Compounds for genes affiliated with Treacher Collins Syndrome 3

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44Novoseek, 24HMDB
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Compounds related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyrophosphate44 2410.3POLR1D, POLR1C
2phosphoric acid44 2410.0POLR1D, POLR1C
3rrna448.9TCOF1, POLR1C

GO Terms for genes affiliated with Treacher Collins Syndrome 3

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16Gene Ontology
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Cellular components related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase III complexGO:0056669.3POLR1D, POLR1C
2DNA-directed RNA polymerase I complexGO:0057369.0POLR1D, POLR1C

Biological processes related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription elongation from RNA polymerase III promoterGO:0063859.5POLR1D, POLR1C
2termination of RNA polymerase III transcriptionGO:0063869.5POLR1D, POLR1C
3transcription elongation from RNA polymerase I promoterGO:0063629.4POLR1D, POLR1C
4termination of RNA polymerase I transcriptionGO:0063639.4POLR1D, POLR1C
5transcription initiation from RNA polymerase I promoterGO:0063619.3POLR1C, POLR1D
6positive regulation of type I interferon productionGO:0324819.3POLR1D, POLR1C
7transcription from RNA polymerase I promoterGO:0063609.2POLR1D, POLR1C
8transcription from RNA polymerase III promoterGO:0063839.0POLR1D, POLR1C

Molecular functions related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469839.3POLR1D, POLR1C
2RNA polymerase I activityGO:0010549.2POLR1D, POLR1C
3RNA polymerase III activityGO:0010569.0POLR1D, POLR1C

Products for genes affiliated with Treacher Collins Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Treacher Collins Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet