TCS3
MCID: TRC071
MIFTS: 18

Treacher Collins Syndrome 3 (TCS3) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Treacher Collins Syndrome 3

About this section


Fully expand this MalaCard
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 An important gene associated with Treacher Collins Syndrome 3 is POLR1C (polymerase (RNA) I polypeptide C, 30kDa). Affiliated tissues include bone.

Description from OMIM:46 248390

Aliases & Classifications for Treacher Collins Syndrome 3

About this section

Treacher Collins Syndrome 3, Aliases & Descriptions:

Name: Treacher Collins Syndrome 3 42 46
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 42 22 62
 
Tcs3 42


Classifications:



Related Diseases for Treacher Collins Syndrome 3

About this section

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

About this section

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

About this section

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

About this section

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

About this section

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

32
Bone

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

About this section

Publications for Treacher Collins Syndrome 3

About this section

Variations for Treacher Collins Syndrome 3

About this section

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

64
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 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

About this section
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

About this section

Compounds for genes affiliated with Treacher Collins Syndrome 3

About this section

GO Terms for genes affiliated with Treacher Collins Syndrome 3

About this section

Products for genes affiliated with Treacher Collins Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Treacher Collins Syndrome 3

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet