ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 4
COMMON SIGNS: 3

2 OMIM references -
4 associated genes
17 signs/symptoms

Achondrogenesis type 2

Autosomal recessive Stickler syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1 COL2A1 COL2A1	(0.75) (0.62) (0.52) (0.52)	COL9A1 COL9A3 COL11A1 COL9A2

Citations in the biomedical literature:

Achondrogenesis type 2		Autosomal recessive Stickler syndrome
	Synonym(s): - Achondrogenesis, Langer-Saldino type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536017		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Short stature / dwarfism / nanism

Achondrogenesis type 2		Autosomal recessive Stickler syndrome
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Autosomal dominant inheritance - Excess nuchal skin without pterygium colli - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - 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)		Very frequent - Autosomal recessive inheritance - Genu valgum - Sensorineural deafness / hearing loss Frequent - Abnormal vertebral size / shape - Astigmatism - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation