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Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Pseudoachondroplasia

1 OMIM reference -
1 associated gene
24 signs/symptoms

Stickler syndrome type 1

Pseudoachondroplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.52)	COMP

Citations in the biomedical literature:

Stickler syndrome type 1		Pseudoachondroplasia
	Synonym(s): (no synonyms)		Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia

	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 (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535819


COMMON SIGNS	- Articular / joint pain / arthralgia - Autosomal dominant inheritance - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Osteoarthritis - Platyspondyly

Stickler syndrome type 1		Pseudoachondroplasia
	Very frequent - 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 - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal vertebral anomaly - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia		Very frequent - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Wrist / carpal anomalies Frequent - Abnormal gait - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short foot / brachydactyly of toes Occasional - Genu valgum - Genu varum - Kyphosis - Odontoid hypoplasia