MCID: TRC071
MIFTS: 22

Treacher Collins Syndrome 3 malady

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

Aliases & Classifications for Treacher Collins Syndrome 3

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Aliases & Descriptions for Treacher Collins Syndrome 3:

Name: Treacher Collins Syndrome 3 49 11 45 67
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 45 65
 
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive 67 24
Tcs3 45 67

Characteristics:

HPO:

61
treacher collins syndrome 3:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 248390
MedGen34 C1855433
MeSH36 D008342
UMLS65 C1855433

Summaries for Treacher Collins Syndrome 3

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OMIM:49 Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral... (248390) more...

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 mandibulofacial dysostosis, lower eyelid coloboma and downslanted palpebral fissures. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (Polymerase (RNA) I Subunit C). Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:67 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1polr1c-related treacher collins syndrome11.6

Symptoms for Treacher Collins Syndrome 3

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Symptoms by clinical synopsis from OMIM:

248390

Clinical features from OMIM:

248390

HPO human phenotypes related to Treacher Collins Syndrome 3:

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

Drugs & Therapeutics for Treacher Collins Syndrome 3

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
2Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in ChildrenRecruitingNCT01664234
3Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677

Search NIH Clinical Center for Treacher Collins Syndrome 3

Genetic Tests for Treacher Collins Syndrome 3

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Anatomical Context for Treacher Collins Syndrome 3

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MalaCards organs/tissues related to Treacher Collins Syndrome 3:

33
Bone, Eye

Animal Models for Treacher Collins Syndrome 3 or affiliated genes

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Publications for Treacher Collins Syndrome 3

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Variations for Treacher Collins Syndrome 3

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

67
id Symbol AA change Variation ID SNP ID
1POLR1Cp.Arg279GlnVAR_064899rs191582628
2POLR1Cp.Arg279TrpVAR_064900

Clinvar genetic disease variations for Treacher Collins Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POLR1CNM_203290.3(POLR1C): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs191582628GRCh37Chr 6, 43488700: 43488700
2POLR1CPOLR1C, IVS8, 4-BP DEL, +3deletionPathogenic
3POLR1CNM_203290.3(POLR1C): c.979A> T (p.Lys327Ter)single nucleotide variantPathogenicrs387907020GRCh37Chr 6, 43488976: 43488976
4POLR1CPOLR1C, 1-BP DEL, 87TdeletionPathogenic
5POLR1CNM_203290.3(POLR1C): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs141156009GRCh37Chr 6, 43488699: 43488699

Expression for genes affiliated with Treacher Collins Syndrome 3

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

Pathways for genes affiliated with Treacher Collins Syndrome 3

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GO Terms for genes affiliated with Treacher Collins Syndrome 3

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Sources for Treacher Collins Syndrome 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet