hyperphosphatasia with intellectual disability syndrome 5
Findings
No curated finding names hyperphosphatasia with intellectual disability syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
Definition from the Mondo Disease Ontology (MONDO:0014457), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Profound global developmental delayHPO
Show the remaining 1
- Widened subarachnoid spaceHPOHP:0012704
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGWHGNC:23213
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2016
Where it sits
Other names
5 names
Resolves to: hyperphosphatasia with intellectual disability syndrome 5
- Also called
- hyperphosphatasia with intellectual disability syndrome type 5hyperphosphatasia with mental retardation syndrome 5hyperphosphatasia with mental retardation syndrome type 5hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGWPIGW hyperphosphatasia-intellectual disability syndrome