Details of Disease | DrugMAP

General Information of Disease (ID: DISQWFHN)

Disease Name	Stickler syndrome
Synonyms	hereditary progressive arthroophthalmopathy; Stickler syndrome
Definition	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).\|Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1JG9A: Spondyloepiphyseal dysplasia DISVPRKD: Vitreoretinal degeneration DISQWFHN: Stickler syndrome
Disease Identifiers	MONDO ID MONDO_0019354 UMLS CUI C0265253 MedGen ID 120521 Orphanet ID 828 SNOMED CT ID 78675000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP4	TTD3BSX	Moderate	Autosomal recessive	[1]
LRP2	TTPH1AJ	Moderate	Autosomal dominant	[2]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A1	OTWBR27Y	Limited	Autosomal recessive	[3]
COL9A2	OT1ZBDBV	Limited	Autosomal recessive	[3]
BMP4	OTPZMDFH	Moderate	Autosomal recessive	[1]
LOXL3	OTLLY1QI	Moderate	Autosomal recessive	[1]
LRP2	OTZ6W681	Moderate	Autosomal dominant	[2]
COL11A1	OTB0DRMS	Strong	Genetic Variation	[4]
COL11A2	OT3BQUBH	Strong	Genetic Variation	[5]
TECTA	OT5E0NE2	Strong	Biomarker	[6]
COL9A3	OTCUJOEK	Definitive	Autosomal recessive	[3]
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⏷ Show the Full List of 9 DOT(s)

References

1	LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. Hum Genet. 2015 Apr;134(4):451-3. doi: 10.1007/s00439-015-1531-z. Epub 2015 Feb 7.
2	Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265. Epub 2013 Sep 23.
3	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.
4	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.
5	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.
6	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.