Disorder "Hypophosphatasia"
Found 1 record
Disorder information
Disorder name:
Hypophosphatasia
Disoder ID:
Synonyms:
childhood hypophosphatasia,deficiency of alkaline phosphatase,hypophospatasia, childhood
Definition:
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL1A2 | COL1A2:c.1645C>G(p.Pro549Ala) | Expressivity | Altered severity | From review article | The heterozygous genotype G/C of the COL1A2 coding SNP rs42524 c.1645C > G (p.Pro549Ala) was associated with the severity of the phenotype in patientsmore | more |
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