TCS2
MCID: TRC073
MIFTS: 27

Treacher Collins Syndrome 2 (TCS2)

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

Aliases & Classifications for Treacher Collins Syndrome 2

MalaCards integrated aliases for Treacher Collins Syndrome 2:

Name: Treacher Collins Syndrome 2 56 73 29 13 6 71
Tcs2 56 73
Treacher Collins Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

31
treacher collins syndrome 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 613717
OMIM Phenotypic Series 56 PS154500
MeSH 43 D008342
MedGen 41 C3150983
UMLS 71 C3150983

Summaries for Treacher Collins Syndrome 2

OMIM : 56 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, also known as tcs2, is related to treacher collins syndrome 1 and tuberous sclerosis 1. An important gene associated with Treacher Collins Syndrome 2 is POLR1D (RNA Polymerase I And III Subunit D). Affiliated tissues include bone, kidney and lung, and related phenotypes are microtia and micrognathia

UniProtKB/Swiss-Prot : 73 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

Diseases related to Treacher Collins Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 treacher collins syndrome 1 11.3
2 tuberous sclerosis 1 10.2
3 tuberous sclerosis 10.2

Symptoms & Phenotypes for Treacher Collins Syndrome 2

Human phenotypes related to Treacher Collins Syndrome 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microtia 31 HP:0008551
2 micrognathia 31 HP:0000347
3 downslanted palpebral fissures 31 HP:0000494
4 cleft palate 31 HP:0000175
5 choanal atresia 31 HP:0000453
6 conductive hearing impairment 31 HP:0000405
7 choanal stenosis 31 HP:0000452
8 coloboma 31 HP:0000589

Symptoms via clinical synopsis from OMIM:

56
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 29 POLR1D

Anatomical Context for Treacher Collins Syndrome 2

MalaCards organs/tissues related to Treacher Collins Syndrome 2:

40
Bone, Kidney, Lung

Publications for Treacher Collins Syndrome 2

Articles related to Treacher Collins Syndrome 2:

(show all 17)
# Title Authors PMID Year
1
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 56 6
24603435 2014
2
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 6 56
21131976 2011
3
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 56
25790162 2016
4
Treacher Collins Syndrome 6
20301704 2004
5
TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells. 61
28387735 2017
6
Lattice Dynamics of the Rhenium and Technetium Dichalcogenides. 61
27178055 2016
7
Circulating maternal cortisol levels during vaginal delivery and elective cesarean section. 61
26690355 2016
8
Predicting Single-Layer Technetium Dichalcogenides (TcX₂, X = S, Se) with Promising Applications in Photovoltaics and Photocatalysis. 61
26859697 2016
9
Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. 61
26782523 2015
10
Oxidative remobilization of technetium sequestered by sulfide-transformed nano zerovalent iron. 61
24884124 2014
11
Semiconducting layered technetium dichalcogenides: insights from first-principles. 61
24030159 2013
12
Roles of fkbN in positive regulation and tcs7 in negative regulation of FK506 biosynthesis in Streptomyces sp. strain KCTC 11604BP. 61
22267670 2012
13
LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice. 61
21828077 2011
14
Effect of water stress on in vitro mycelium cultures of two mycorrhizal desert truffles. 61
20645113 2011
15
Population-specific quantitative trait loci mapping for functional stay-green trait in rice (Oryza sativa L.). 61
21423286 2011
16
Tuberous sclerosis complex 2 loss-of-function mutation regulates reactive oxygen species production through Rac1 activation. 61
18230340 2008
17
Mapping and cloning recombinant breakpoints demarcating the hybrid sterility 6-specific sperm tail assembly defect. 61
9922385 1999

Variations for Treacher Collins Syndrome 2

ClinVar genetic disease variations for Treacher Collins Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR1D NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)SNV Pathogenic 31049 13:28197244-28197244 13:27623107-27623107
2 POLR1D NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys)SNV Pathogenic 31050 13:28197124-28197124 13:27622987-27622987
3 POLR1D NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg)SNV Pathogenic 31051 13:28197137-28197137 13:27623000-27623000
4 POLR1D POLR1D, 2-BP DEL, 326CAdeletion Pathogenic 31052
5 POLR1D NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs)duplication Pathogenic 31053 13:28197246-28197247 13:27623109-27623110
6 POLR1D NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs)duplication Pathogenic 31054 13:28197072-28197073 13:27622935-27622936
7 POLR1D NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)SNV Pathogenic 156464 rs587777841 13:28197148-28197148 13:27623011-27623011

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

73
# 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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....