TCS2
MCID: TRC073
MIFTS: 28

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 57 12 72 29 13 6 70
Tcs2 57 72
Treacher Collins Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

Disease Ontology 12 DOID:0080790
OMIM® 57 613717
OMIM Phenotypic Series 57 PS154500
MeSH 44 D008342
MedGen 41 C3150983
UMLS 70 C3150983

Summaries for Treacher Collins Syndrome 2

OMIM® : 57 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) (Updated 20-May-2021)

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 eye and kidney, and related phenotypes are microtia and cleft palate

Disease Ontology : 12 A Treacher Collins syndrome that has material basis in heterozygous mutation in the POLR1D gene on chromosome 13q12.

UniProtKB/Swiss-Prot : 72 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
Treacher Collins Syndrome 4

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 11.0
2 tuberous sclerosis 1 9.9
3 tuberous sclerosis 9.9

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 cleft palate 31 HP:0000175
3 micrognathia 31 HP:0000347
4 downslanted palpebral fissures 31 HP:0000494
5 conductive hearing impairment 31 HP:0000405
6 choanal atresia 31 HP:0000453
7 coloboma 31 HP:0000589
8 choanal stenosis 31 HP:0000452

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Eye, Kidney

Publications for Treacher Collins Syndrome 2

Articles related to Treacher Collins Syndrome 2:

(show all 19)
# Title Authors PMID Year
1
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 57 6
24603435 2014
2
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 6 57
21131976 2011
3
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 57
25790162 2016
4
Relationships between specific antibody responses and clinical signs of dogs living in Tunisian endemic areas of canine leishmaniasis caused by Leishmania infantum. 61
33775627 2021
5
MTORC1-Regulated Metabolism Controlled by TSC2 Limits Cardiac Reperfusion Injury. 61
33401933 2021
6
Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma. 61
32610114 2020
7
TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells. 61
28387735 2017
8
Lattice Dynamics of the Rhenium and Technetium Dichalcogenides. 61
27178055 2016
9
Circulating maternal cortisol levels during vaginal delivery and elective cesarean section. 61
26690355 2016
10
Predicting Single-Layer Technetium Dichalcogenides (TcX₂, X = S, Se) with Promising Applications in Photovoltaics and Photocatalysis. 61
26859697 2016
11
Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. 61
26782523 2015
12
Oxidative remobilization of technetium sequestered by sulfide-transformed nano zerovalent iron. 61
24884124 2014
13
Semiconducting layered technetium dichalcogenides: insights from first-principles. 61
24030159 2013
14
Roles of fkbN in positive regulation and tcs7 in negative regulation of FK506 biosynthesis in Streptomyces sp. strain KCTC 11604BP. 61
22267670 2012
15
LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice. 61
21828077 2011
16
Effect of water stress on in vitro mycelium cultures of two mycorrhizal desert truffles. 61
20645113 2011
17
Population-specific quantitative trait loci mapping for functional stay-green trait in rice (Oryza sativa L.). 61
21423286 2011
18
Tuberous sclerosis complex 2 loss-of-function mutation regulates reactive oxygen species production through Rac1 activation. 61
18230340 2008
19
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 Position
1 POLR1D NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) SNV Pathogenic 31049 rs1593275599 GRCh37: 13:28197244-28197244
GRCh38: 13:27623107-27623107
2 POLR1D NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) SNV Pathogenic 31050 rs767196650 GRCh37: 13:28197124-28197124
GRCh38: 13:27622987-27622987
3 POLR1D NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) SNV Pathogenic 31051 rs1593275448 GRCh37: 13:28197137-28197137
GRCh38: 13:27623000-27623000
4 POLR1D POLR1D, 2-BP DEL, 326CA Deletion Pathogenic 31052 GRCh37:
GRCh38:
5 POLR1D NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) Duplication Pathogenic 31053 rs1593275616 GRCh37: 13:28197246-28197247
GRCh38: 13:27623109-27623110
6 POLR1D NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) Duplication Pathogenic 31054 rs1593275363 GRCh37: 13:28197072-28197073
GRCh38: 13:27622935-27622936
7 POLR1D NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) SNV Pathogenic 156464 rs587777841 GRCh37: 13:28197148-28197148
GRCh38: 13:27623011-27623011
8 POLR1D NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala) SNV Uncertain significance 1032714 GRCh37: 13:28197199-28197199
GRCh38: 13:27623062-27623062

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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