MCID: TRC071
MIFTS: 19

Treacher Collins Syndrome 3 malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Treacher Collins Syndrome 3

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OMIM:45 Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral... (248390) more...

MalaCards based summary: Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to treacher collins syndrome 1, and has symptoms including autosomal recessive inheritance, cleft palate and malar flattening. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (polymerase (RNA) I polypeptide C, 30kDa). Affiliated tissues include bone.

Aliases & Classifications for Treacher Collins Syndrome 3

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Treacher Collins Syndrome 3, Aliases & Descriptions:

Name: Treacher Collins Syndrome 3 45 10 41
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 41 22 60
 
Tcs3 41


Classifications:



External Ids:

OMIM45 248390

Related Diseases for Treacher Collins Syndrome 3

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Diseases in the Familial Treacher Collins Syndrome family:

Treacher Collins Syndrome 1 treacher collins syndrome 3
Treacher Collins Syndrome 2 Tcof1-Related Treacher Collins Syndrome
Polr1c-Related Treacher Collins Syndrome Polr1d-Related Treacher Collins Syndrome

Diseases related to Treacher Collins Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 110.1

Symptoms for Treacher Collins Syndrome 3

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Symptoms by clinical synopsis from OMIM:

248390

Clinical features from OMIM:

248390

HPO human phenotypes related to Treacher Collins Syndrome 3:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cleft palate HP:0000175
3 malar flattening HP:0000272
4 micrognathia HP:0000347
5 abnormality of the outer ear HP:0000356
6 downslanted palpebral fissures HP:0000494
7 lower eyelid coloboma HP:0000652
8 mandibulofacial dysostosis HP:0005321

Drugs & Therapeutics for Treacher Collins Syndrome 3

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Drug clinical trials:

Search ClinicalTrials for Treacher Collins Syndrome 3

Search NIH Clinical Center for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

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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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MalaCards organs/tissues related to Treacher Collins Syndrome 3:

31
Bone

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

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Publications for Treacher Collins Syndrome 3

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Variations for Treacher Collins Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 3:

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

Clinvar genetic disease variations for Treacher Collins Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1POLR1CNM_203290.2(POLR1C): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs191582628GRCh37Chr 6, 43488700: 43488700
2POLR1CPOLR1C, IVS8, 4-BP DEL, +3deletionPathogenic
3POLR1CNM_203290.2(POLR1C): c.979A> T (p.Lys327Ter)single nucleotide variantPathogenicrs387907020GRCh37Chr 6, 43488976: 43488976
4POLR1CPOLR1C, 1-BP DEL, 87TdeletionPathogenic
5POLR1CNM_203290.2(POLR1C): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs141156009GRCh37Chr 6, 43488699: 43488699

Expression for genes affiliated with Treacher Collins Syndrome 3

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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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Compounds for genes affiliated with Treacher Collins Syndrome 3

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GO Terms for genes affiliated with Treacher Collins Syndrome 3

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Products for genes affiliated with Treacher Collins Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Treacher Collins Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet