ArticlePloS one2019
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Article
- NEFL is associated with inhibition of odontoblastic process in odontohypophosphatasia.Journal of bone and mineral metabolism · 2026Article
- TNAP dephosphorylates phosphocholine and phosphoethanolamine and participates in triglyceride transport from the liver to the bloodstream.Communications biology · 2025Article
- Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Japanese nationwide dental survey of hypophosphatasia reveals novel oral manifestations.Scientific reports · 2025Article
- Review
- Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study.Journal of oral rehabilitation · 2025Article
- Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.Journal of medical case reports · 2024Article
- Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.Annals of pediatric endocrinology & metabolism · 2023Article
- The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2023Article
- Dental manifestation and management of hypophosphatasia.The Japanese dental science review · 2022Review
- Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.International journal of molecular sciences · 2022Article
- Dental manifestations in adult hypophosphatasia and their correlation with biomarkers.JIMD reports · 2022Article
- A case report of bilateral mirror feet with varus deformity.Surgical and radiologic anatomy : SRA · 2021Article
- Dental effects of enzyme replacement therapy in case of childhood-type hypophosphatasia.BMC oral health · 2021Article
- Ankylosed Primary Molar in a Japanese Child with Hypophosphatasia.Dentistry journal · 2020Article
- Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.Frontiers in endocrinology · 2020Article
- Odontohypophosphatasia treated with asfotase alfa enzyme replacement therapy in a toddler: a case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene. Here, we undertook a nationwide survey of HPP in Japan, specifically regarding the prominent genetic and dental manifestations of odonto (n = 16 cases) and other (termed "non-odonto") (n = 36 cases) types. Mean serum alkaline phosphatase (ALP) values in odonto-type patients were significantly greater than those of non-odonto-type patients (P<0.05). Autosomal dominant and autosomal recessive inheritance patterns were detected, respectively, in 89% of odonto-type and 96% of non-odonto-type patients. The ALPL "c.1559delT" mutation, associated with extremely low ALP activity, was found in approximately 70% of cases. Regarding dental manifestations, all patients classified as odonto-type showed early exfoliation of the primary teeth significantly more frequently than patients classified as non-odonto-type (100% vs. 56%; P<0.05). Tooth hypomineralisation was detected in 42% of non-odonto-type patients, but not in any odonto-type patients (0%; P<0.05). Collectively, these results suggest that genetic and dental manifestations of patients with odonto-type and non-odonto-type HPP are significantly different, and these differences should be considered during clinical treatment of patients with HPP.
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