Adult hypophosphatasia

General Information (adopted from Orphanet):

Synonyms, Signs: Hypophosphatasia, mild odontohypophosphatasia, included
Adult Rathburn disease
Adult phosphoethanolaminuria
Number of Symptoms 15
OrphanetNr: 247676
OMIM Id: 146300
ICD-10: E83.3
UMLs: C0268413
MeSH:
MedDRA:
Snomed: 20756002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: Adult
25731960 [IBIS]

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:0002148) Hypophosphatemia 24123110 IBIS 43 / 7739
2
(HPO:0010766) Ectopic calcification 24123110 IBIS 5 / 7739
3
(HPO:0012531) Pain 24123110 IBIS 9 / 7739
4
(HPO:0002653) Bone pain 25731960 IBIS 75 / 7739
5
(HPO:0100036) Pseudo-fractures 25731960 IBIS 1 / 7739
6
(HPO:0006323) Premature loss of primary teeth 18 / 7739
7
(HPO:0000670) Carious teeth 145 / 7739
8
(HPO:0006357) Premature loss of permanent teeth 25731960 IBIS 2 / 7739
9
(HPO:0002748) Rickets 25731960 IBIS 41 / 7739
10
(HPO:0001760) Abnormality of the foot 96 / 7739
11
(HPO:0002749) Osteomalacia 25731960 IBIS 24 / 7739
12
(HPO:0000934) Chondrocalcinosis 13 / 7739
13
(HPO:0002757) Recurrent fractures 25731960 IBIS 47 / 7739
14
(HPO:0002756) Pathologic fracture 25731960 IBIS 30 / 7739
15
(HPO:0003282) Low alkaline phosphatase 25731960 IBIS 7 / 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 ...