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MIRAGE
infantile hypophosphatasia
Summary
- Synonym
-
- HOPS
- HPPI
- phosphoethanolaminuria
- Definition
- A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
- Super Class
- hypophosphatasia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TJD3 | Alkaline phosphatase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11491 | Repressible alkaline phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003282 | Low alkaline phosphatase |
| HP:0003491 | Elevated urine pyrophosphate |
| HP:0003826 | Stillbirth |
| HP:0004492 | Widely patent fontanelles and sutures |
| HP:0004606 | Unossified vertebral bodies |
| HP:0005474 | Decreased calvarial ossification |
| HP:0006385 | Short lower limbs |
| HP:0008428 | Vertebral clefting |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0011864 | Elevated plasma pyrophosphate |
