hyperphosphatasia with impaired intellectual development syndrome 6

Summary
Synonym
  • GPIBD40
  • HPMRS4
  • glycosylphosphatidylinositol biosynthesis defect 40
  • hyperphosphatasia with mental retardation syndrome 4
Definition
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.
Super Class
hyperphosphatasia with impaired intellectual development syndrome
External Links
Disease Ontology
DOID:0070437
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84992 PIGY phosphatidylinositol glycan anchor biosynthesis class Y
The Human Phenotype Ontology
Displaying entries 1 - 10 of 95 in total
HPO ID HPO Term
HP:0000126 Hydronephrosis
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000248 Brachycephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000289 Broad philtrum
HP:0000303 Mandibular prognathia
HP:0000311 Round face
HP:0000316 Hypertelorism
Displaying all 7 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024