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Hypochondrogenesis

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 4

Autosomal recessive Stickler syndrome

2 OMIM references -
4 associated genes
17 signs/symptoms

Hypochondrogenesis

Autosomal recessive Stickler syndrome

COL2A1	(UniProt - OMIM)		COL11A1	(UniProt - OMIM)
			COL9A1	(UniProt - OMIM)
			COL9A2	(UniProt - OMIM)
			COL9A3	(UniProt - OMIM)


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:

Hypochondrogenesis		Autosomal recessive Stickler syndrome

	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 - No MeSH references		External references: 2 OMIM references - No MeSH references

Autosomal recessive Stickler syndrome
	Very frequent - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Genu valgum - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism 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
Hypochondrogenesis
(no data available)