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Von Willebrand disease type 2M

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

PROTEIN INTERACTIONS: 1

Juvenile Paget disease

1 OMIM reference -
1 associated gene
18 signs/symptoms

Von Willebrand disease type 2M

Juvenile Paget disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VWF	(0.52)	TNFRSF11B

Citations in the biomedical literature:

Von Willebrand disease type 2M		Juvenile Paget disease
	Synonym(s): (no synonyms)		Synonym(s): - Familial osteoectasia - Hereditary hyperphosphatasia - Hyperostosid corticalis deformans juvenilis - JPG - Juvenile Paget's disease

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: - 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: normal Type of inheritance: autosomal recessive

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

Juvenile Paget disease
	Very frequent - Anomalies of teeth and dentition - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Clavicle absent / abnormal - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hyperuricemia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rough trabeculation of bone - Short stature / dwarfism / nanism Frequent - Chronic arterial hypertension - Hearing loss / hypoacusia / deafness - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pectus carinatum - Retinitis pigmentosa / retinal pigmentary changes Occasional - Pigmented naevi / naevus pigmentosus / lentigo - Subcutaneous nodules / lipomas / tumefaction / swelling
Von Willebrand disease type 2M
(no data available)