Odontohypophosphatasia

General Information (adopted from Orphanet):

Synonyms, Signs: Hypophosphatasia, mild odontohypophosphatasia, included
Number of Symptoms 15
OrphanetNr: 247685
OMIM Id: 146300
ICD-10: E83.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Hypophosphatasia
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with odontological manifestation
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
(HPO:0006323) Premature loss of primary teeth 18 / 7739
2
(HPO:0002756) Pathologic fracture 30 / 7739
3
(HPO:0002757) Recurrent fractures 47 / 7739
4
(HPO:0000934) Chondrocalcinosis 13 / 7739
5
(HPO:0002749) Osteomalacia 24 / 7739
6
(HPO:0002748) Rickets 41 / 7739
7
(HPO:0003282) Low alkaline phosphatase 7 / 7739
8
(OMIM) Calcium pyrophosphate arthropathy (hypophosphatasia only) 2 / 7739
9
(OMIM) Premature loss of secondary teeth 3 / 7739
10
(OMIM) Metatarsal stress fracture (hypophosphatasia only) 2 / 7739
11
(OMIM) Decreased alveolar bone 2 / 7739
12
(OMIM) Elevated urinary phosphoethanolamine 2 / 7739
13
(OMIM) Long bone pseudofractures (hypophosphatasia only) 2 / 7739
14
(OMIM) Enlarged pulp chamber 3 / 7739
15
(OMIM) Dental caries, severe 5 / 7739

Associated genes:

ALPL;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the family reported by Silverman (1962), a father and 2 sons had hypophosphatasia. The paternal grandmother may have been affected. No evidence of heterozygosity was obtained in the propositus' wife or 2 unaffected children. Clinical features were early ...
Molecular genetics OMIM In a 65-year-old woman with adult hypophosphatasia, Henthorn et al. (1992) identified compound heterozygosity for missense mutations in the ALPL gene (171760.0003 and 171760.0008).

Mornet (1999) tested 2 large families with adult hypophosphatasia. In 1 family, hypophosphatasia ...