TCS2
MCID: TRC073
MIFTS: 23

Treacher Collins Syndrome 2 (TCS2) malady

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

Aliases & Classifications for Treacher Collins Syndrome 2

Aliases & Descriptions for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 54 66 29 13 69
Tcs2 66

Characteristics:

HPO:

32
treacher collins syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613717
MedGen 40 C3150983
MeSH 42 D008342

Summaries for Treacher Collins Syndrome 2

OMIM : 54 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 downslanted palpebral fissures. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I Subunit D). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 polr1d-related treacher collins syndrome 11.2
2 treacher collins syndrome 1 10.9

Symptoms & Phenotypes for Treacher Collins Syndrome 2

Symptoms by clinical synopsis from OMIM:

613717

Clinical features from OMIM:

613717

Human phenotypes related to Treacher Collins Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 micrognathia 32 HP:0000347
3 downslanted palpebral fissures 32 HP:0000494
4 choanal atresia 32 HP:0000453
5 choanal stenosis 32 HP:0000452

Drugs & Therapeutics for Treacher Collins Syndrome 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
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
4 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312

Search NIH Clinical Center for Treacher Collins Syndrome 2

Genetic Tests for Treacher Collins Syndrome 2

Genetic tests related to Treacher Collins Syndrome 2:

id Genetic test Affiliating Genes
1 Treacher Collins Syndrome 2 29

Anatomical Context for Treacher Collins Syndrome 2

MalaCards organs/tissues related to Treacher Collins Syndrome 2:

39
Bone

Publications for Treacher Collins Syndrome 2

Variations for Treacher Collins Syndrome 2

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

66
id Symbol AA change Variation ID SNP ID
1 POLR1D p.Glu47Lys VAR_064892 rs767196650
2 POLR1D p.Thr50Ile VAR_064893
3 POLR1D p.Leu51Arg VAR_064894
4 POLR1D p.Gly52Glu VAR_064895
5 POLR1D p.Arg56Cys VAR_064896
6 POLR1D p.Leu82Ser VAR_064897
7 POLR1D p.Gly99Ser VAR_064898

ClinVar genetic disease variations for Treacher Collins Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POLR1D POLR1D, ARG87TER single nucleotide variant Pathogenic
2 POLR1D POLR1D, GLU47LYS single nucleotide variant Pathogenic
3 POLR1D POLR1D, LEU51ARG single nucleotide variant Pathogenic
4 POLR1D POLR1D, 2-BP DEL, 326CA deletion Pathogenic
5 POLR1D POLR1D, 2-BP DUP, 263G duplication Pathogenic
6 POLR1D POLR1D, 2-BP INS, 88TG insertion Pathogenic
7 POLR1D NM_015972.3(POLR1D): c.163C> G (p.Leu55Val) single nucleotide variant Pathogenic rs587777841 GRCh37 Chromosome 13, 28197148: 28197148

Expression for Treacher Collins Syndrome 2

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

Pathways for Treacher Collins Syndrome 2

GO Terms for Treacher Collins Syndrome 2

Sources for Treacher Collins Syndrome 2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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