MCID: TRC071
MIFTS: 19

Treacher Collins Syndrome 3

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

Aliases & Classifications for Treacher Collins Syndrome 3

MalaCards integrated aliases for Treacher Collins Syndrome 3:

Name: Treacher Collins Syndrome 3 53 49 71 13
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 53 49 28 69
Tcs3 53 49 71
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
treacher collins syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 248390
MedGen 39 C1855433
MeSH 41 D008342
UMLS 69 C1855433

Summaries for Treacher Collins Syndrome 3

OMIM : 53 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, is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, and has symptoms including malar flattening, cleft palate and micrognathia. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (RNA Polymerase I Subunit C). Affiliated tissues include bone.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Treacher Collins syndrome.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Treacher Collins Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 cleft palate 31 HP:0000175
3 micrognathia 31 HP:0000347
4 downslanted palpebral fissures 31 HP:0000494
5 lower eyelid coloboma 31 HP:0000652
6 abnormality of the outer ear 31 HP:0000356
7 mandibulofacial dysostosis 31 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 28 POLR1C

Anatomical Context for Treacher Collins Syndrome 3

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

38
Bone

Publications for Treacher Collins Syndrome 3

Variations for Treacher Collins Syndrome 3

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

71
# 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 POLR1C, IVS8, 4-BP DEL, +3 deletion Pathogenic
3 POLR1C NM_203290.3(POLR1C): c.979A> T (p.Lys327Ter) single nucleotide variant Pathogenic rs387907020 GRCh37 Chromosome 6, 43488976: 43488976
4 POLR1C POLR1C, 1-BP DEL, 87T deletion Pathogenic
5 POLR1C NM_203290.3(POLR1C): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs141156009 GRCh37 Chromosome 6, 43488699: 43488699
6 POLR1C NM_203290.3(POLR1C): c.525delG (p.Trp175Terfs) deletion Likely pathogenic rs1085307086 GRCh38 Chromosome 6, 43520297: 43520297

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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