TCS3
MCID: TRC071
MIFTS: 21

Treacher Collins Syndrome 3 (TCS3)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Treacher Collins Syndrome 3

MalaCards integrated aliases for Treacher Collins Syndrome 3:

Name: Treacher Collins Syndrome 3 58 54 76 13
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 58 54 30 6 74
Tcs3 58 54 76
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 76
Treacher Collins Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
treacher collins syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Treacher Collins Syndrome 3

OMIM : 58 Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011). For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (154500). (248390)

MalaCards based summary : Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to treacher collins syndrome 1. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (RNA Polymerase I And III Subunit C). Affiliated tissues include bone, and related phenotypes are malar flattening and microtia

UniProtKB/Swiss-Prot : 76 Treacher Collins syndrome 3: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Related Diseases for Treacher Collins Syndrome 3

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 treacher collins syndrome 1 10.2

Symptoms & Phenotypes for Treacher Collins Syndrome 3

Human phenotypes related to Treacher Collins Syndrome 3:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 microtia 33 HP:0008551
3 cleft palate 33 HP:0000175
4 micrognathia 33 HP:0000347
5 downslanted palpebral fissures 33 HP:0000494
6 conductive hearing impairment 33 HP:0000405
7 lower eyelid coloboma 33 HP:0000652
8 coloboma 33 HP:0000589
9 mandibulofacial dysostosis 33 HP:0005321

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
microtia
hearing loss, conductive

Head And Neck Eyes:
downslanting palpebral fissures
coloboma, lower eyelid

Head And Neck Mouth:
cleft palate

Head And Neck Face:
mandibular hypoplasia
zygomatic complex hypoplasia

Clinical features from OMIM:

248390

Drugs & Therapeutics for Treacher Collins Syndrome 3

Search Clinical Trials , NIH Clinical Center for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

Genetic tests related to Treacher Collins Syndrome 3:

# Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 30 POLR1C

Anatomical Context for Treacher Collins Syndrome 3

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

42
Bone

Publications for Treacher Collins Syndrome 3

Articles related to Treacher Collins Syndrome 3:

# Title Authors Year
1
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. ( 29567474 )
2018

Variations for Treacher Collins Syndrome 3

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

76
# Symbol AA change Variation ID SNP ID
1 POLR1C p.Arg279Gln VAR_064899 rs191582628
2 POLR1C p.Arg279Trp VAR_064900 rs141156009

ClinVar genetic disease variations for Treacher Collins Syndrome 3:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR1C NM_203290.3(POLR1C): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs191582628 GRCh37 Chromosome 6, 43488700: 43488700
2 POLR1C NM_203290.3(POLR1C): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs191582628 GRCh38 Chromosome 6, 43520962: 43520962
3 POLR1C POLR1C, IVS8, 4-BP DEL, +3 deletion Pathogenic
4 POLR1C NM_203290.3(POLR1C): c.979A> T (p.Lys327Ter) single nucleotide variant Pathogenic rs387907020 GRCh37 Chromosome 6, 43488976: 43488976
5 POLR1C NM_203290.3(POLR1C): c.979A> T (p.Lys327Ter) single nucleotide variant Pathogenic rs387907020 GRCh38 Chromosome 6, 43521238: 43521238
6 POLR1C POLR1C, 1-BP DEL, 87T deletion Pathogenic
7 POLR1C NM_203290.3(POLR1C): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs141156009 GRCh37 Chromosome 6, 43488699: 43488699
8 POLR1C NM_203290.3(POLR1C): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs141156009 GRCh38 Chromosome 6, 43520961: 43520961
9 POLR1C NM_203290.3(POLR1C): c.525delG (p.Trp175Terfs) deletion Likely pathogenic rs780663139 GRCh38 Chromosome 6, 43520297: 43520297
10 POLR1C NM_203290.3(POLR1C): c.525delG (p.Trp175Terfs) deletion Likely pathogenic rs780663139 GRCh37 Chromosome 6, 43488035: 43488035
11 POLR1C NM_203290.3(POLR1C): c.364T> A (p.Phe122Ile) single nucleotide variant Likely pathogenic rs1554131502 GRCh38 Chromosome 6, 43519820: 43519820
12 POLR1C NM_203290.3(POLR1C): c.364T> A (p.Phe122Ile) single nucleotide variant Likely pathogenic rs1554131502 GRCh37 Chromosome 6, 43487558: 43487558

Expression for Treacher Collins Syndrome 3

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

Pathways for Treacher Collins Syndrome 3

GO Terms for Treacher Collins Syndrome 3

Sources for Treacher Collins Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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