ODCs

Cytoscape Web

Click node...

Hyaluronidase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Hyaluronidase deficiency

Achondrogenesis type 2

(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		Achondrogenesis type 2
	Synonym(s): - Mucopolysaccharidosis type 9		Synonym(s): - Achondrogenesis, Langer-Saldino type

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

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


COMMON SIGNS	- Short stature / dwarfism / nanism

Hyaluronidase deficiency		Achondrogenesis type 2
	Very frequent - Autosomal recessive inheritance - Subcutaneous nodules / lipomas / tumefaction / swelling		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 - 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)