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hyperphosphatasia with impaired intellectual development syndrome 1
Summary
- Synonym
-
- GPIBD2
- HPMRS1
- glycosylphosphatidylinositol biosynthesis defect 2
- hyperphosphatasia with mental retardation syndrome 1
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070433
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002714 | Downturned corners of mouth |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0006118 | Shortening of all distal phalanges of the fingers |
| HP:0006808 | Cerebral hypomyelination |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010804 | Tented upper lip vermilion |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010864 | Intellectual disability, severe |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0000007 | Autosomal recessive inheritance |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 27315 | PGAP2 | post-GPI attachment to proteins 2 |
| 284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L |
