TCS3
MCID: TRC071
MIFTS: 35

Treacher Collins Syndrome 3 (TCS3) malady

Eye, Ear, Bone, Fetal categories

Summaries for Treacher Collins Syndrome 3

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures, flat cheek bones/malar hypoplasia and hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia. 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.

Description from OMIM:47 248390,613717,154500

Aliases & Classifications for Treacher Collins Syndrome 3

Sources:
43NIH Rare Diseases, 47OMIM, 22GTR, 61UMLS, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 47
mandibulofacial dysostosis, treacher collins type, autosomal recessive 43 22 61
franceschetti-klein syndrome 49 61
mandibulofacial dysostosis without limb anomalies 49
treacher-collins syndrome 49
tcs3 43


External Ids:

ICD10 via Orphanet26 Q75.4
SNOMED-CT via Orphanet58 82203000

Related Diseases for Treacher Collins Syndrome 3

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

248390,613717,154500

Clinical synopsis from OMIM:

248390

Symptoms:

49 (show all 27)
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • 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
  • anodontia/oligodontia/hypodontia
  • conductive deafness/hearing loss
  • choanal atresia
  • 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

Drugs & Therapeutics for Treacher Collins Syndrome 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Treacher Collins Syndrome 3

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

Sources:
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

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Treacher Collins Syndrome 3

Genetic Variations for Treacher Collins Syndrome 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Treacher Collins Syndrome 3:

63
id Symbol AA change Variation SNP ID
1POLR1Cp.Arg279GlnVAR_064899rs191582628
2POLR1Cp.Arg279TrpVAR_064900

Expression for genes affiliated with Treacher Collins Syndrome 3

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

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN
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Compounds for genes affiliated with Treacher Collins Syndrome 3

Sources:
45Novoseek, 24HMDB
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Compounds related to Treacher Collins Syndrome 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyrophosphate45 2410.3POLR1D, POLR1C
2phosphoric acid45 2410.0POLR1D, POLR1C
3rrna458.9TCOF1, POLR1C

GO Terms for genes affiliated with Treacher Collins Syndrome 3

Sources:
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:0063859.5POLR1C, POLR1D
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:0063639.4POLR1C, POLR1D
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:0063609.2POLR1C, POLR1D
8transcription from RNA polymerase III promoterGO:0063839.0POLR1C, POLR1D

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Treacher Collins Syndrome 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet