IEMbase 0561: ALPL-related hypophosphatasia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 561 |
| Nosology | 21.6.03.01 |
| Gene | ALPL |
| External IDs | OMIM:241500; ORPHA:436 |
| Generated mapping | MAPPED; Hypophosphatasia.yaml |
| Candidate DisMech targets | Hypophosphatasia.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ALPL-related tissue-nonspecific alkaline phosphatase deficiency, with alternate labels congenital hypophosphatasia, phosphoethanolaminuria, and HOPS. The record lists autosomal dominant and autosomal recessive inheritance, idiopathic subtype, unknown treatability, and an asfotase alfa enzyme-replacement treatment row.
Biochemical rows include increased urinary phosphoethanolamine, increased plasma pyridoxal phosphate, very low plasma alkaline phosphatase, normal-high to high plasma calcium, and low-normal to low plasma phosphate. Clinical rows include dentine hypoplasia, premature dentition exfoliation, respiratory failure, taurodontism, and thin dentinal walls. Characteristic rows include seizures and skeletal hypomineralization.
DisMech phenotype coverage
Hypophosphatasia.yaml is the correct local target. The entry models ALPL
loss of function, tissue-nonspecific alkaline phosphatase deficiency, reduced
alkaline phosphatase and pyrophosphatase activity, accumulation of inorganic
pyrophosphate, pyridoxal phosphate, and phosphoethanolamine, impaired
hydroxyapatite formation, and decreased bone mineralization. It also covers
dominant and recessive inheritance across severity levels and asfotase alfa
enzyme replacement.
Concordance and completeness
Judgement: correct high-concordance mapping to Hypophosphatasia.yaml.
IEMbase and DisMech agree on ALPL identity, mixed dominant/recessive inheritance, low alkaline phosphatase, elevated PLP and PEA, mineralization failure, skeletal hypomineralization, dental involvement, seizures, and asfotase alfa treatment. DisMech is stronger for the pyrophosphate-mediated bone-mineralization mechanism and severity-spectrum framing.
IEMbase adds review prompts for calcium and phosphate directionality, respiratory failure, taurodontism, dentine hypoplasia, premature dentition exfoliation, and thin dentinal walls.
Curation actions
- Keep this record mapped to
Hypophosphatasia.yaml. - Consider source-checking IEMbase dental subfeatures, respiratory failure, calcium/phosphate rows, and seizure framing for possible local additions.
- Keep asfotase alfa linked to pediatric-onset or severe disease context where evidence supports that scope.