ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Hyaluronidase deficiency

Spondylometaphyseal dysplasia, Schmidt type


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

Citations in the biomedical literature:

Hyaluronidase deficiency		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): - Mucopolysaccharidosis type 9		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian 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: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Short stature / dwarfism / nanism

Hyaluronidase deficiency		Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Autosomal recessive inheritance - Subcutaneous nodules / lipomas / tumefaction / swelling		Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality