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Hyaluronidase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

Hyaluronidase deficiency

Stickler syndrome type 1

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HYAL1	(0.63)	COL2A1

Citations in the biomedical literature:

Hyaluronidase deficiency		Stickler syndrome type 1
	Synonym(s): - Mucopolysaccharidosis type 9		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - 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): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Hyaluronidase deficiency		Stickler syndrome type 1
	Very frequent - Autosomal recessive inheritance - Short stature / dwarfism / nanism - Subcutaneous nodules / lipomas / tumefaction / swelling		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