Stickler syndrome, type I

Preferred Label : Stickler syndrome, type I;

Symbol : STL1;

CISMeF acronym : AOM; STL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AOM; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1; Arthroophthalmopathy, hereditary progressive;

Description : Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis. Stickler syndrome type III is a nonocular form of the disorder (summary by Baker et al., 2011). - Genetic Heterogeneity of Stickler Syndrome See 609508 for a form of Stickler syndrome type I which is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; 604841), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (120280) on chromosome 1p21. Stickler syndrome type III (STL3; 184840), sometimes called the nonocular form, is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21. These forms of Stickler syndrome are autosomal dominant. Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; 614134), caused by mutation in the COL9A1 gene (120210) on chromosome 6q12-q14, and Stickler syndrome type V (STL5; 614284), caused by mutation in the COL9A2 gene (120260) on chromosome 1p33-p32.2.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0005);

Prefixed ID : #108300;

Details

Origin ID

108300;

UMLS CUI

C2020284;

Automatic exact mappings (from CISMeF team)
- Acute otitis media [ICD-11 Category]
- Azoxymethane [NCIt concept]
- COL2A1 wt Allele [NCIt concept]
- Infectious Otitis Media [NCIt concept]
- collagen type II alpha 1 chain [ORDO Gene]
- collagen type II alpha 1 chain [HGNC gene]
- symbol withdrawn AOM [HGNC gene]
Broader ORDO disease(s)
- Stickler syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Stickler Syndrome [NCIt concept]
- Stickler Syndrome Type 1 [NCIt concept]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome type 1 [ICD-11 More detail]
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 1 [MeSH concept]
- stickler syndrome, type 1 [MeSH Supplementary Concept]
DO Cross reference
- Stickler syndrome 1 [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Abnormality of femoral epiphysis [HPO term]
- Anteverted nares [HPO term]
- Arachnodactyly [HPO term]
- Arthropathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Bifid uvula [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate tall stature [HPO term]
- Flattened nasal bridge [HPO term]
- Glaucoma [HPO term]
- Irregular femoral epiphysis [HPO term]
- Kyphosis [HPO term]
- Malar flattening [HPO term]
- Membranous vitreous appearance [HPO term]
- Midface retrusion [HPO term]
- Mild spondyloepiphyseal dysplasia [HPO term]
- Mitral valve prolapse [HPO term]
- Morbus Scheuermann [HPO term]
- Myopia [HPO term]
- Osteoarthritis [HPO term]
- Pectus excavatum [HPO term]
- Pierre-Robin sequence [HPO term]
- Platyspondyly [HPO term]
- Retinal detachment [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondylolisthesis [HPO term]
- Submucous cleft hard palate [HPO term]
- platyspondyly with anterior wedging [HPO term]
ORDO concept(s)
- Stickler syndrome [ORDO Disease]
- Stickler syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler Syndrome Type 1 [NCIt concept]
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 1 [MeSH concept]
- stickler syndrome, type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Stickler syndrome [Disease (Nov.)]
- Stickler syndrome [ICD-11 More detail]
- Stickler syndrome (disorder) [SNOMED CT concept]

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