Details of Disease | DrugMAP

General Information of Disease (ID: DIS60627)

Disease Name	Obsolete adult hypophosphatasia
Synonyms	odontohypophosphatasia; mild hypophosphatasia; hypophosphatasia, mild; hypophosphatasia, ADULT; adult phosphoethanolaminuria; adult Rathburn disease; obsolete adult hypophosphatasia; hypophosphatasia of adults
Definition	OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS60627: Obsolete adult 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 dominant	[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 dominant	[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.