MCID: TRC073
MIFTS: 23

Treacher Collins Syndrome 2 malady

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

Aliases & Classifications for Treacher Collins Syndrome 2

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Aliases & Descriptions for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 52 70 27 12 68
 
Tcs2 70

Characteristics:

HPO:

64
treacher collins syndrome 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613717
MedGen37 C3150983
MeSH39 D008342

Summaries for Treacher Collins Syndrome 2

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OMIM:52 Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral... (613717) more...

MalaCards based summary: Treacher Collins Syndrome 2, also known as tcs2, is related to polr1d-related treacher collins syndrome and treacher collins syndrome 1, and has symptoms including cleft palate, micrognathia and choanal stenosis. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I Subunit D). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:70 Treacher Collins syndrome 2: 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 2

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1polr1d-related treacher collins syndrome11.3
2treacher collins syndrome 110.9

Symptoms & Phenotypes for Treacher Collins Syndrome 2

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Symptoms by clinical synopsis from OMIM:

613717

Clinical features from OMIM:

613717

Human phenotypes related to Treacher Collins Syndrome 2:

 64
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 micrognathia64 HP:0000347
3 choanal stenosis64 HP:0000452
4 choanal atresia64 HP:0000453
5 downslanted palpebral fissures64 HP:0000494

Drugs & Therapeutics for Treacher Collins Syndrome 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative CellsCompletedNCT01674439Phase 2
2Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
3Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
4Natural History of Craniofacial Anomalies and Developmental Growth VariantsRecruitingNCT02639312

Search NIH Clinical Center for Treacher Collins Syndrome 2

Genetic Tests for Treacher Collins Syndrome 2

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Genetic tests related to Treacher Collins Syndrome 2:

id Genetic test Affiliating Genes
1 Treacher Collins Syndrome 227

Anatomical Context for Treacher Collins Syndrome 2

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MalaCards organs/tissues related to Treacher Collins Syndrome 2:

36
Bone

Publications for Treacher Collins Syndrome 2

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Variations for Treacher Collins Syndrome 2

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UniProtKB/Swiss-Prot genetic disease variations for Treacher Collins Syndrome 2:

70
id Symbol AA change Variation ID SNP ID
1POLR1Dp.Glu47LysVAR_064892rs767196650
2POLR1Dp.Thr50IleVAR_064893
3POLR1Dp.Leu51ArgVAR_064894
4POLR1Dp.Gly52GluVAR_064895
5POLR1Dp.Arg56CysVAR_064896
6POLR1Dp.Leu82SerVAR_064897
7POLR1Dp.Gly99SerVAR_064898

Clinvar genetic disease variations for Treacher Collins Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POLR1DNM_015972.3(POLR1D): c.163C> G (p.Leu55Val)SNVPathogenicrs587777841GRCh37Chr 13, 28197148: 28197148
2POLR1DPOLR1D, ARG87TERSNVPathogenicChr na, -1: -1
3POLR1DPOLR1D, GLU47LYSSNVPathogenicChr na, -1: -1
4POLR1DPOLR1D, LEU51ARGSNVPathogenicChr na, -1: -1
5POLR1DPOLR1D, 2-BP DEL, 326CAdeletionPathogenicChr na, -1: -1
6POLR1DPOLR1D, 2-BP DUP, 263GduplicationPathogenicChr na, -1: -1
7POLR1DPOLR1D, 2-BP INS, 88TGinsertionPathogenicChr na, -1: -1

Expression for genes affiliated with Treacher Collins Syndrome 2

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Search GEO for disease gene expression data for Treacher Collins Syndrome 2.

Pathways for genes affiliated with Treacher Collins Syndrome 2

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GO Terms for genes affiliated with Treacher Collins Syndrome 2

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Sources for Treacher Collins Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet