Details of Disease | DrugMAP

General Information of Disease (ID: DIST2TBG)

Disease Name	Odontohypophosphatasia
Synonyms	HPPO
Definition	Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.
Disease Hierarchy	DISCQ0O2: Hypophosphatasia DIST2TBG: Odontohypophosphatasia
Disease Identifiers	MONDO ID MONDO_0016607 MESH ID C564146 UMLS CUI C1840322 MedGen ID 326709 Orphanet ID 247685 SNOMED CT ID 708672004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALPL	TTMR5UV	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALPL	DEVEFKM	Supportive	Autosomal dominant	[2]
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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	Supportive	Autosomal dominant	[2]
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References

1	Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.J Dent Res. 2015 May;94(5):706-14. doi: 10.1177/0022034515573273. Epub 2015 Feb 25.
2	Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 2000;15(4):309-15. doi: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C.