Details of Disease

General Information of Disease (ID: DISDCG5L)

Disease Name Perinatal lethal hypophosphatasia
Synonyms hypophosphatasia, perinatal lethal; perinatal lethal phosphoethanolaminuria; HPPN; perinatal lethal Rathburn disease
Definition
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Disease Hierarchy
DISCQ0O2: Hypophosphatasia
DISDCG5L: Perinatal lethal hypophosphatasia
Disease Identifiers
MONDO ID
MONDO_0016605
MESH ID
C567107
UMLS CUI
C2673477
MedGen ID
392928
Orphanet ID
247623

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 recessive [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 recessive [2]
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References

1 Tooth root dentin mineralization defects in a mouse model of hypophosphatasia.J Bone Miner Res. 2013 Feb;28(2):271-82. doi: 10.1002/jbmr.1767.
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.