Details of Disease | DrugMAP

General Information of Disease (ID: DIS2GXZ1)

Disease Name	Treacher-Collins syndrome
Synonyms	TCS; TCOF; MFD1; mandibulofacial dysostosis without limb anomalies; Treacher-Collins syndrome; Treacher Collins syndrome; Treacher Collins Syndrome; Franceschetti-Klein syndrome; Franceschetti syndrome
Definition	A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DIS6SVEE: Syndromic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISEGMSH: Mandibulofacial dysostosis DISUEW2W: Hereditary otorhinolaryngologic disease DIS2GXZ1: Treacher-Collins syndrome
Disease Identifiers	MONDO ID MONDO_0002457 MESH ID D008342 UMLS CUI C0242387 OMIM ID 154500 MedGen ID 66078 Orphanet ID 861 SNOMED CT ID 82203000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSNK2A1	TTER6YH	moderate	Posttranslational Modification	[1]
CUL3	TTPCU0Q	moderate	Genetic Variation	[2]
SLC6A7	TT9LGO5	moderate	Biomarker	[3]
EDNRA	TTKRD0G	Strong	Biomarker	[4]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLR1B	OTKREU8M	Supportive	Autosomal dominant	[5]
POLR1C	OT7DVQB0	Supportive	Autosomal dominant	[6]
POLR1D	OTOCZQNA	Supportive	Autosomal dominant	[6]
CAMK2A	OTJGX19T	moderate	Genetic Variation	[3]
DDX21	OTV73GMZ	moderate	Biomarker	[7]
ERGIC2	OT3MEGIU	moderate	Altered Expression	[8]
KBTBD8	OTO8X1UF	moderate	Genetic Variation	[2]
NOLC1	OTKDZU0D	moderate	Genetic Variation	[2]
POLR1A	OTDWI0TG	moderate	Biomarker	[9]
QDPR	OTSKOIUX	moderate	Genetic Variation	[10]
RPS14	OTB90KV5	moderate	Genetic Variation	[11]
TCEA1	OTBFO594	moderate	Genetic Variation	[12]
EFTUD2	OT3X7QG2	Strong	Genetic Variation	[13]
NDST1	OT9E10W2	Strong	Biomarker	[14]
TCOF1	OT4BOYTM	Definitive	Autosomal dominant	[15]
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⏷ Show the Full List of 15 DOT(s)

References

1	A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.Mol Genet Genomics. 2014 Dec;289(6):1237-40. doi: 10.1007/s00438-014-0883-8. Epub 2014 Jul 4.
2	Cell-fate determination by ubiquitin-dependent regulation of translation.Nature. 2015 Sep 24;525(7570):523-7. doi: 10.1038/nature14978.
3	Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22.
4	Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?.Am J Med Genet A. 2010 Jul;152A(7):1838-40. doi: 10.1002/ajmg.a.33477.
5	Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19.
6	Treacher Collins Syndrome. 2004 Jul 20 [updated 2020 Aug 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
7	Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.Nature. 2018 Feb 1;554(7690):112-117. doi: 10.1038/nature25449. Epub 2018 Jan 24.
8	Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.Mamm Genome. 1997;8(11):841-5. doi: 10.1007/s003359900589.
9	Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4.
10	Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.Genomics. 1991 Sep;11(1):188-92. doi: 10.1016/0888-7543(91)90117-w.
11	A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.Am J Hum Genet. 1994 Aug;55(2):372-8.
12	Long-term serum platinum changes and their association with cisplatin-related late effects in testicular cancer survivors.Acta Oncol. 2018 Oct;57(10):1392-1400. doi: 10.1080/0284186X.2018.1473641. Epub 2018 May 18.
13	A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.
14	Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome.Genomics. 1996 Mar 15;32(3):471-3. doi: 10.1006/geno.1996.0145.
15	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.