Hypophosphatasia, Infantile (HPPI)

Alias:
Infantile Hypophosphatasia
Perinatal Lethal Hypophosphatasia
Phosphoethanolaminuria
Hppi
Hops
Perinatal Lethal Phosphoethanolaminuria
Hypophosphatasia, Perinatal Lethal
Perinatal Lethal Rathbun Disease
Infantile Phosphoethanolaminuria
Infantile Rathbun Disease
Phosphoethanol-Aminuria
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypophosphatasia, Infantile, also known as infantile hypophosphatasia, is related to hypophosphatasia, adult and hypophosphatasia, and has symptoms including apnea, constipation and fever of unknown origin. An important gene associated with Hypophosphatasia, Infantile is ALPL (Alkaline Phosphatase, Biomineralization Associated). The drugs Hydroxyurea and Hops have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are low alkaline phosphatase and phosphoethanolaminuria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
14
69
184

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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