Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
1p36.12
Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 241500.1 | Lebanon | Female | Seizure; Global developmental delay; L... Seizure; Global developmental delay; Low alkaline phosphatase  | NM_000478.6:c.668G>A, NM_000478.6:c.449T>G | Heterozygous | Autosomal, Recessive | Nair et al. 2018 | |||
| 241500.2.1 | Egypt | Male | Yes | Yes | Stillbirth Stillbirth | NM_000478.6:c.815G>T, NM_000478.6:c.874C>T | Heterozygous | Autosomal, Recessive | Tenorio et al. 2017 | Patient 'HPP48' in t... |
| 241500.2.2 | Egypt | Male | Yes | Yes | Stillbirth Stillbirth | NM_000478.6:c.815G>T, NM_000478.6:c.874C>T | Heterozygous | Autosomal, Recessive | Tenorio et al. 2017 | Twin brother of 2415... |
| 241500.2.3 | Egypt | Female | Yes | Yes | Recurrent fractures; Increased susceptib... Recurrent fractures; Increased susceptibility to fractures | NM_000478.6:c.815G>T, NM_000478.6:c.874C>T | Heterozygous | Autosomal, Recessive | Tenorio et al. 2017 | Sister of 241500.2.1... |
| 241500.3.1 | Egypt | Female | Yes | Yes | Delayed closure of the anterior fontanel... Delayed closure of the anterior fontanelle; Short stature; Developmental regression; Abnormality of bone mineral density; Low alkaline phosphatase; Delayed dental eruption; Multiple fractures; Osteopenia | NM_000478.6:c.1064T>C | Homozygous | Autosomal, Recessive | Tenorio et al. 2017 | Patient 'HPP109' in ... |
| 241500.4 | United Arab Emirates | Unknown | Bone pain; Muscle weakness; Infantile hy... Bone pain; Muscle weakness; Infantile hypercalcemia; Low alkaline phosphatase | NM_000478.6:c.407G>A, NM_000478.6:c.1540G>A | Heterozygous | Autosomal, Recessive | Tenorio et al. 2017 | Patient 'HPP104' in ... | ||
| 241500.5 | Saudi Arabia | Female | Yes | Low-set ears; Redundant skin; Narrow che... Low-set ears; Redundant skin; Narrow chest; Generalized bone demineralization | NM_000478.6:c.977G>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |