Details of Disease | DrugMAP

General Information of Disease (ID: DIST5L4S)

Disease Name	Stickler syndrome type 1
Synonyms	Stickler syndrome, vitreous type 1; STL1; Stickler syndrome, membranous vitreous type; arthroophthalmopathy, hereditary progressive; Stickler syndrome, type 1; Stickler syndrome, type I; Stickler syndrome type 1
Disease Hierarchy	DIS8WIDY: Type 2 collagenopathy DISQWFHN: Stickler syndrome DIST5L4S: Stickler syndrome type 1
Disease Identifiers	MONDO ID MONDO_0007160 MESH ID C537492 UMLS CUI C2020284 OMIM ID 108300 MedGen ID 810955 Orphanet ID 90653 SNOMED CT ID 1010668008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A2	OT1ZBDBV	moderate	Genetic Variation	[1]
COL11A1	OTB0DRMS	Strong	Genetic Variation	[2]
COL11A2	OT3BQUBH	Strong	Genetic Variation	[3]
COL9A1	OTWBR27Y	Strong	Biomarker	[4]
COL9A3	OTCUJOEK	Strong	Genetic Variation	[5]
FJX1	OT8SVTSS	Strong	Biomarker	[6]
LOXL3	OTLLY1QI	Strong	Genetic Variation	[5]
TECTA	OT5E0NE2	Strong	Biomarker	[7]
COL2A1	OT5E59C8	Definitive	Autosomal dominant	[8]
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⏷ Show the Full List of 9 DOT(s)

References

1	Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.
2	A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14.
3	Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:111S-7S. doi: 10.1177/0003489415575044. Epub 2015 Mar 16.
4	Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.Eur J Med Genet. 2019 Oct;62(10):103724. doi: 10.1016/j.ejmg.2019.103724. Epub 2019 Jul 14.
5	LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. Clin Genet. 2019 Feb;95(2):325-328. doi: 10.1111/cge.13465. Epub 2018 Nov 18.
6	Four jointed box 1 promotes angiogenesis and is associated with poor patient survival in colorectal carcinoma.PLoS One. 2013 Jul 29;8(7):e69660. doi: 10.1371/journal.pone.0069660. Print 2013.
7	Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).Hear Res. 2012 Sep;291(1-2):15-23. doi: 10.1016/j.heares.2012.07.001. Epub 2012 Jul 14.
8	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.