Details of Disease | DrugMAP

General Information of Disease (ID: DIS4VWEM)

Disease Name	Obsolete childhood hypophosphatasia
Synonyms	hypophosphatasia, childhood; childhood-onset hypophosphatasia; hypophosphatasia of childhood; childhood-onset Rathburn disease; childhood-onset phosphoethanolaminuria; pediatric hypophosphatasia; obsolete childhood hypophosphatasia
Definition	OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS4VWEM: Obsolete childhood hypophosphatasia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALPL	DEVEFKM	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALPL	OTG7J4BP	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.