Details of Disease

General Information of Disease (ID: DISCSIL9)

Disease Name Obsolete autosomal recessive Stickler syndrome
Synonyms Stickler syndrome, autosomal recessive
Definition
OBSOLETE. A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISCSIL9: Obsolete autosomal recessive Stickler syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL11A1 OTB0DRMS Supportive Autosomal recessive [1]
COL9A1 OTWBR27Y Supportive Autosomal recessive [2]
COL9A2 OT1ZBDBV Supportive Autosomal recessive [3]
COL9A3 OTCUJOEK Supportive Autosomal recessive [4]
LOXL3 OTLLY1QI Supportive Autosomal recessive [5]
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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 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
3 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.
4 Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22.
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.