Disease: Autosomal Recessive Stickler Syndrome

Name Autosomal Recessive Stickler Syndrome

Synonyms -

Classification bone, developmental, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial

Phenotypes Amblyopia; Astigmatism; Cataract; Cleft palate; Epiphyseal dysplasia; Flat face; Genu valgum; Irregular vertebral endplates; Joint hyperflexibility; Malar flattening; Micrognathia; Myopia; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short stature; Vitreoretinopathy

Associated Genes LOXL3 , COL9A2 (Withdrawn symbols: EDM2, MED ) , COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ) , COL11A1 (Withdrawn symbols: CO11A1, COLL6, DFNA37, STL2 ) , COL9A1

Mouse Orthologs Loxl3 , Col9a2 (Withdrawn symbols: AI427499, Col9a-2 ) , Col9a3 (Withdrawn symbols: AV006866 ) , Col11a1 (Withdrawn symbols: C530001D20Rik, cho ) , Col9a1 (Withdrawn symbols: Col9a-1 )

Source ORPHA:250984 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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