MCID: TRC071
MIFTS: 21

Treacher Collins Syndrome 3

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

Aliases & Classifications for Treacher Collins Syndrome 3

MalaCards integrated aliases for Treacher Collins Syndrome 3:

Name: Treacher Collins Syndrome 3 57 53 75 13
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 57 53 29 6 73
Tcs3 57 53 75
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 75
Treacher Collins Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
treacher collins syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248390
MedGen 42 C1855433
MeSH 44 D008342
UMLS 73 C1855433

Summaries for Treacher Collins Syndrome 3

OMIM : 57 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 cleft palate and malar flattening

UniProtKB/Swiss-Prot : 75 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 10.0

Symptoms & Phenotypes for Treacher Collins Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
zygomatic complex hypoplasia
mandibular hypoplasia

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

Head And Neck Ears:
microtia
hearing loss, conductive

Head And Neck Mouth:
cleft palate


Clinical features from OMIM:

248390

Human phenotypes related to Treacher Collins Syndrome 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 malar flattening 32 HP:0000272
3 micrognathia 32 HP:0000347
4 abnormality of the outer ear 32 HP:0000356
5 downslanted palpebral fissures 32 HP:0000494
6 lower eyelid coloboma 32 HP:0000652
7 mandibulofacial dysostosis 32 HP:0005321

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 29 POLR1C

Anatomical Context for Treacher Collins Syndrome 3

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

41
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:

75
# 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
# 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 rs1085307086 GRCh38 Chromosome 6, 43520297: 43520297
10 POLR1C NM_203290.3(POLR1C): c.525delG (p.Trp175Terfs) deletion Likely pathogenic rs1085307086 GRCh37 Chromosome 6, 43488035: 43488035

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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