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Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
Features include always present findings: Tented upper lip vermilion, Hypsarrhythmia, Wide nasal bridge, and Inguinal hernia and others. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Absent speech, Seizure, Global developmental delay |
Head and neck | 3 | Tented upper lip vermilion, Coarse facial features, High palate |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Heart and blood vessels | 1 | Widened subarachnoid space |
PIGW function has not been fully characterized.
Hyperphosphatasia with intellectual disability syndrome 5 has limited evidence linking it to mutations in the PIGW gene on chromosome 17.
Genetic testing for PIGW is available. Testing is considered research-grade for diagnosis.
Phenotype severity distribution: 13 always present features.
No clinical trials have been registered for hyperphosphatasia with intellectual disability syndrome 5.
9 publications have been identified in PubMed for hyperphosphatasia with intellectual disability syndrome 5. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (11%).
Wilke MVMB (2026). [PMID: 40799153](https://pubmed.ncbi.nlm.nih.gov/40799153/). *Am J Med Genet A*. [Case Report / Case Series]
Salmaninejad A (2026). [PMID: 41866703](https://pubmed.ncbi.nlm.nih.gov/41866703/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Beşen Ş (2026). [PMID: 41622609](https://pubmed.ncbi.nlm.nih.gov/41622609/). *Ann Indian Acad Neurol*. [Gene Therapy / Novel Therapeutics]
Rabouhi N (2025). [PMID: 40239339](https://pubmed.ncbi.nlm.nih.gov/40239339/). *Pediatr Neurol*. [Basic Science / Preclinical]
Küçükçongar Yavaş A (2025). [PMID: 41059450](https://pubmed.ncbi.nlm.nih.gov/41059450/). *Mol Syndromol*. [Case Report / Case Series]
Thompson MD (2024). [PMID: 38790248](https://pubmed.ncbi.nlm.nih.gov/38790248/). *Genes (Basel)*. [Review / Meta-Analysis]
Pan Y (2024). [PMID: 39687712](https://pubmed.ncbi.nlm.nih.gov/39687712/). *Front Pediatr*. [Case Report / Case Series]
Mukai T (2024). [PMID: 38967264](https://pubmed.ncbi.nlm.nih.gov/38967264/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Feresin A (2024). [PMID: 39766333](https://pubmed.ncbi.nlm.nih.gov/39766333/). *Biomolecules*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC
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