TCS3
MCID: TRC071
MIFTS: 20

Treacher Collins Syndrome 3 (TCS3) malady

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

Summaries for Treacher Collins Syndrome 3

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Looking for an antibody for researching treacher collins syndrome 3?

POLR1C antibody
OMIM:46 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 42 46
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 42 23 61
 
Tcs3 42


Classifications:



Related Diseases for Treacher Collins Syndrome 3

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Diseases in the Treacher Collins Syndrome 1 family:

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

Diseases related to Treacher Collins Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks 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:

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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 Recessive23

Anatomical Context for Treacher Collins Syndrome 3

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MalaCards organs/tissues related to Treacher Collins Syndrome 3:

32
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:

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

Clinvar genetic disease variations for Treacher Collins Syndrome 3:

7
id Gene Name 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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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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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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Sources for Treacher Collins Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet