MCID: TRC071
MIFTS: 24

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 54 50 71 13
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 50 29 69
Tcs3 50 71
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
treacher collins syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Treacher Collins Syndrome 3

OMIM : 54
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 polr1c-related treacher collins syndrome, and has symptoms including micrognathia, cleft palate and downslanted palpebral fissures. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (RNA Polymerase I Subunit C). Affiliated tissues include bone.

NIH Rare Diseases : 50 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
Polr1c-Related Treacher Collins Syndrome Polr1d-Related Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome

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

id Related Disease Score Top Affiliating Genes
1 polr1c-related treacher collins syndrome 11.1

Symptoms & Phenotypes for Treacher Collins Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
cleft palate

Head And Neck- Ears:
microtia hearing loss, conductive

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

Head And Neck- Face:
zygomatic complex hypoplasia
mandibular hypoplasia


Clinical features from OMIM:

248390

Human phenotypes related to Treacher Collins Syndrome 3:

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

Drugs & Therapeutics for Treacher Collins Syndrome 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677

Search NIH Clinical Center for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

Genetic tests related to Treacher Collins Syndrome 3:

id Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 29

Anatomical Context for Treacher Collins Syndrome 3

MalaCards organs/tissues related to Treacher Collins Syndrome 3:

39
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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....