Details of Disease | DrugMAP

General Information of Disease (ID: DIS6QK0I)

Disease Name	Obsolete infantile hypophosphatasia
Synonyms	hypophosphatasia, perinatal lethal; hypophosphatasia, infantile; infantile Rathburn disease; infantile phosphoethanolaminuria; HOPS; obsolete infantile hypophosphatasia
Definition	OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS6QK0I: Obsolete infantile 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.