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Stickler syndrome type 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Stickler syndrome type 3

Achondrogenesis type 2

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.52)	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 3		Achondrogenesis type 2
	Synonym(s): - Stickler syndrome, nonocular type		Synonym(s): - Achondrogenesis, Langer-Saldino type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537494		External references: 1 OMIM reference - 1 MeSH reference: C536017


COMMON SIGNS	- Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism

Stickler syndrome type 3		Achondrogenesis type 2
	Very frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Mid-facial hypoplasia / short / small midface - Sensorineural deafness / hearing loss Frequent - Glossoptosis - Osteoarthritis Occasional - Exostoses - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Pectus excavatum		Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)