TCS3
MCID: TRC071
MIFTS: 28

Treacher Collins Syndrome 3 (TCS3)

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

Aliases & Classifications for Treacher Collins Syndrome 3

MalaCards integrated aliases for Treacher Collins Syndrome 3:

Name: Treacher Collins Syndrome 3 57 12 20 72 29 13 6
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 57 20 70
Tcs3 57 20 72
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 72
Treacher Collins Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
treacher collins syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080791
OMIM® 57 248390
OMIM Phenotypic Series 57 PS154500
MeSH 44 D008342
MedGen 41 C1855433
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to cleft palate, isolated and 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 microtia and cleft palate

Disease Ontology : 12 A Treacher Collins syndrome that has material basis in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

UniProtKB/Swiss-Prot : 72 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
Treacher Collins Syndrome 4

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

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.2
2 treacher collins syndrome 1 10.2
3 galloway-mowat syndrome 3 9.9
4 proteinuria, chronic benign 9.9

Symptoms & Phenotypes for Treacher Collins Syndrome 3

Human phenotypes related to Treacher Collins Syndrome 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microtia 31 HP:0008551
2 cleft palate 31 HP:0000175
3 micrognathia 31 HP:0000347
4 downslanted palpebral fissures 31 HP:0000494
5 conductive hearing impairment 31 HP:0000405
6 malar flattening 31 HP:0000272
7 lower eyelid coloboma 31 HP:0000652
8 coloboma 31 HP:0000589
9 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Treacher Collins Syndrome 3 29 POLR1C

Anatomical Context for Treacher Collins Syndrome 3

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

40
Bone

Publications for Treacher Collins Syndrome 3

Articles related to Treacher Collins Syndrome 3:

# Title Authors PMID Year
1
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 6 57
21131976 2011
2
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 6 57
11013442 2000
3
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 6 61
29567474 2018
4
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 6
26151409 2015
5
Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. 57
8362908 1993
6
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. 61
28272532 2017
7
Effect of packing motifs on the energy ranking and electronic properties of putative crystal structures of tricyano-1,4-dithiino[c]-isothiazole. 61
27484377 2016
8
[Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid]. 61
26298651 2015
9
The Levels of a Universally Conserved tRNA Modification Regulate Cell Growth. 61
26063805 2015
10
Luv1p/Rki1p/Tcs3p/Vps54p, a yeast protein that localizes to the late Golgi and early endosome, is required for normal vacuolar morphology. 61
10888679 2000

Variations for Treacher Collins Syndrome 3

ClinVar genetic disease variations for Treacher Collins Syndrome 3:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR1C POLR1C, IVS8, 4-BP DEL, +3 Deletion Pathogenic 30812 GRCh37:
GRCh38:
2 POLR1C POLR1C, 1-BP DEL, 87T Deletion Pathogenic 30814 GRCh37:
GRCh38:
3 POLR1C NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) SNV Pathogenic 30815 rs141156009 GRCh37: 6:43488699-43488699
GRCh38: 6:43520961-43520961
4 POLR1C NM_203290.4(POLR1C):c.616del (p.Gln206fs) Deletion Pathogenic 635148 rs1156407486 GRCh37: 6:43488125-43488125
GRCh38: 6:43520387-43520387
5 POLR1C NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) SNV Pathogenic 30813 rs387907020 GRCh37: 6:43488976-43488976
GRCh38: 6:43521238-43521238
6 POLR1C NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) SNV Pathogenic/Likely pathogenic 30811 rs191582628 GRCh37: 6:43488700-43488700
GRCh38: 6:43520962-43520962
7 POLR1C NM_203290.4(POLR1C):c.326G>A (p.Arg109His) SNV Likely pathogenic 204592 rs796052127 GRCh37: 6:43487520-43487520
GRCh38: 6:43519782-43519782
8 POLR1C NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) Deletion Likely pathogenic 225445 rs780663139 GRCh37: 6:43488034-43488034
GRCh38: 6:43520296-43520296
9 POLR1C NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) SNV Likely pathogenic 548465 rs1554131502 GRCh37: 6:43487558-43487558
GRCh38: 6:43519820-43519820
10 POLR1C NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) SNV Uncertain significance 375402 rs1057519455 GRCh37: 6:43485062-43485062
GRCh38: 6:43517324-43517324
11 POLR1C NM_203290.4(POLR1C):c.70-7G>C SNV Uncertain significance 356870 rs886061425 GRCh37: 6:43485037-43485037
GRCh38: 6:43517299-43517299
12 POLR1C NM_203290.4(POLR1C):c.-21A>G SNV Uncertain significance 356867 rs190872536 GRCh37: 6:43484827-43484827
GRCh38: 6:43517089-43517089
13 POLR1C NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) SNV Uncertain significance 356873 rs886061427 GRCh37: 6:43487158-43487158
GRCh38: 6:43519420-43519420
14 POLR1C NM_203290.4(POLR1C):c.561G>A (p.Glu187=) SNV Uncertain significance 356876 rs145813943 GRCh37: 6:43488071-43488071
GRCh38: 6:43520333-43520333
15 POLR1C NM_203290.4(POLR1C):c.913C>A (p.His305Asn) SNV Uncertain significance 356881 rs886061428 GRCh37: 6:43488777-43488777
GRCh38: 6:43521039-43521039
16 POLR1C NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) SNV Uncertain significance 356874 rs144195949 GRCh37: 6:43487864-43487864
GRCh38: 6:43520126-43520126
17 POLR1C NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) SNV Uncertain significance 356877 rs148979835 GRCh37: 6:43488108-43488108
GRCh38: 6:43520370-43520370
18 POLR1C NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) SNV Uncertain significance 356880 rs745835548 GRCh37: 6:43488673-43488673
GRCh38: 6:43520935-43520935
19 POLR1C NM_203290.4(POLR1C):c.*30T>C SNV Uncertain significance 356882 rs185499373 GRCh37: 6:43489068-43489068
GRCh38: 6:43521330-43521330
20 POLR1C NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) SNV Uncertain significance 356875 rs187997427 GRCh37: 6:43487910-43487910
GRCh38: 6:43520172-43520172
21 POLR1C NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) SNV Uncertain significance 635152 rs181576159 GRCh37: 6:43488935-43488935
GRCh38: 6:43521197-43521197
22 POLR1C NM_203290.4(POLR1C):c.*105G>C SNV Uncertain significance 908713 GRCh37: 6:43489143-43489143
GRCh38: 6:43521405-43521405
23 POLR1C NM_203290.4(POLR1C):c.*166C>T SNV Uncertain significance 908714 GRCh37: 6:43489204-43489204
GRCh38: 6:43521466-43521466
24 POLR1C NM_203290.4(POLR1C):c.-4G>A SNV Uncertain significance 356868 rs2231756 GRCh37: 6:43484844-43484844
GRCh38: 6:43517106-43517106
25 POLR1C NM_203290.4(POLR1C):c.-8G>A SNV Uncertain significance 909506 GRCh37: 6:43484840-43484840
GRCh38: 6:43517102-43517102
26 POLR1C NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly) SNV Uncertain significance 909507 GRCh37: 6:43484881-43484881
GRCh38: 6:43517143-43517143
27 POLR1C NM_203290.4(POLR1C):c.70G>A (p.Val24Ile) SNV Uncertain significance 909508 GRCh37: 6:43485044-43485044
GRCh38: 6:43517306-43517306
28 POLR1C NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) SNV Uncertain significance 635143 rs1255115751 GRCh37: 6:43487519-43487519
GRCh38: 6:43519781-43519781
29 POLR1C NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln) SNV Uncertain significance 910444 GRCh37: 6:43487568-43487568
GRCh38: 6:43519830-43519830
30 POLR1C NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) SNV Uncertain significance 635145 rs201320592 GRCh37: 6:43487816-43487816
GRCh38: 6:43520078-43520078
31 POLR1C NM_203290.4(POLR1C):c.480C>T (p.Asn160=) SNV Uncertain significance 910445 GRCh37: 6:43487901-43487901
GRCh38: 6:43520163-43520163
32 POLR1C NM_203290.4(POLR1C):c.490G>A (p.Val164Met) SNV Uncertain significance 910446 GRCh37: 6:43487911-43487911
GRCh38: 6:43520173-43520173
33 POLR1C NM_203290.4(POLR1C):c.585T>C (p.Asp195=) SNV Uncertain significance 911662 GRCh37: 6:43488095-43488095
GRCh38: 6:43520357-43520357
34 POLR1C NM_203290.4(POLR1C):c.639C>G (p.His213Gln) SNV Uncertain significance 911663 GRCh37: 6:43488149-43488149
GRCh38: 6:43520411-43520411
35 POLR1C NM_203290.4(POLR1C):c.771C>T (p.Phe257=) SNV Uncertain significance 761748 rs776376952 GRCh37: 6:43488478-43488478
GRCh38: 6:43520740-43520740
36 POLR1C NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser) SNV Uncertain significance 911664 GRCh37: 6:43488709-43488709
GRCh38: 6:43520971-43520971
37 POLR1C NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) SNV Likely benign 724886 rs148385032 GRCh37: 6:43487842-43487842
GRCh38: 6:43520104-43520104
38 POLR1C NM_203290.4(POLR1C):c.-15G>A SNV Benign 909505 GRCh37: 6:43484833-43484833
GRCh38: 6:43517095-43517095
39 POLR1C NM_203290.4(POLR1C):c.656-9C>T SNV Benign 356879 rs113383614 GRCh37: 6:43488354-43488354
GRCh38: 6:43520616-43520616
40 POLR1C NM_203290.4(POLR1C):c.634A>G (p.Met212Val) SNV Benign 356878 rs79222964 GRCh37: 6:43488144-43488144
GRCh38: 6:43520406-43520406

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

72
# Symbol AA change Variation ID SNP ID
1 POLR1C p.Arg279Gln VAR_064899 rs191582628
2 POLR1C p.Arg279Trp VAR_064900 rs141156009

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....