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Ménière disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Stickler syndrome type 1
2 OMIM references -
1 associated gene
22 signs/symptoms
Ménière disease
Stickler syndrome type 1

COCH
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COCH
(0.72)
COL2A1


Citations in the biomedical literature:


Ménière disease
COCH
Stickler syndrome type 1
COL2A1



Ménière disease
Stickler syndrome type 1

Classification (Orphanet):
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D008575
External references:
2 OMIM references -
No MeSH references
Stickler syndrome type 1

Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Long philtrum
- Myopia
- Retinal detachment
- Short / small nose
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Epiphyseal vertebral anomaly
- Hyperextensible joints / articular hyperlaxity
- Marfanoid morphotype
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Osteoarthritis
- Platyspondyly
- Proptosis / exophthalmos
- Sensorineural deafness / hearing loss

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Visual loss / blindness / amblyopia


Ménière disease

(no data available)