hyperphosphatasia with impaired intellectual development syndrome 5

Summary
Synonym
  • GPIBD11
  • HPMRS5
  • glycosylphosphatidylinositol biosynthesis defect 11
  • hyperphosphatasia with mental retardation syndrome 5
Definition
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.
Super Class
hyperphosphatasia with impaired intellectual development syndrome
External Links
Disease Ontology
DOID:0070432
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
284098 PIGW phosphatidylinositol glycan anchor biosynthesis class W
The Human Phenotype Ontology
Displaying entries 1 - 10 of 70 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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024