TCS2
MCID: TRC073
MIFTS: 22

Treacher Collins Syndrome 2 (TCS2)

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

Aliases & Classifications for Treacher Collins Syndrome 2

MalaCards integrated aliases for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 58 76 30 13 6 74
Tcs2 58 76
Treacher Collins Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
four patients from two unrelated consanguineous families with homozygous mutations have been reported


HPO:

33
treacher collins syndrome 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Treacher Collins Syndrome 2

OMIM : 58 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). (613717)

MalaCards based summary : Treacher Collins Syndrome 2, is also known as tcs2. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I And III Subunit D). Affiliated tissues include eye, and related phenotypes are microtia and cleft palate

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Treacher Collins Syndrome 2

Human phenotypes related to Treacher Collins Syndrome 2:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microtia 33 HP:0008551
2 cleft palate 33 HP:0000175
3 micrognathia 33 HP:0000347
4 downslanted palpebral fissures 33 HP:0000494
5 conductive hearing impairment 33 HP:0000405
6 choanal atresia 33 HP:0000453
7 choanal stenosis 33 HP:0000452
8 coloboma 33 HP:0000589

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
microtia
hearing loss, conductive

Head And Neck Nose:
choanal atresia
choanal stenosis

Head And Neck Face:
mandibular hypoplasia
zygomatic complex hypoplasia

Head And Neck Mouth:
cleft palate

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

Neurologic Central Nervous System:
motor development delayed (in some patients)
speech development delayed (in some patients)

Clinical features from OMIM:

613717

Drugs & Therapeutics for Treacher Collins Syndrome 2

Search Clinical Trials , NIH Clinical Center for Treacher Collins Syndrome 2

Genetic Tests for Treacher Collins Syndrome 2

Genetic tests related to Treacher Collins Syndrome 2:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 2 30 POLR1D

Anatomical Context for Treacher Collins Syndrome 2

MalaCards organs/tissues related to Treacher Collins Syndrome 2:

42
Eye

Publications for Treacher Collins Syndrome 2

Articles related to Treacher Collins Syndrome 2:

# Title Authors Year
1
TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells. ( 28387735 )
2017
2
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. ( 24603435 )
2014
3
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. ( 21131976 )
2011

Variations for Treacher Collins Syndrome 2

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

76
# 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 rs101436915
6 POLR1D p.Leu82Ser VAR_064897
7 POLR1D p.Gly99Ser VAR_064898

ClinVar genetic disease variations for Treacher Collins Syndrome 2:

6
# 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
8 POLR1D NM_015972.3(POLR1D): c.163C> G (p.Leu55Val) single nucleotide variant Pathogenic rs587777841 GRCh38 Chromosome 13, 27623011: 27623011

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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