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Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.
Features include always present findings: Tented upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Short nose, and Low muscle tone (hypotonia) and others; and common findings: Anal stenosis, Anal atresia, Seizure, and Left unicoronal synostosis and others. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability |
Head and neck | 3 | Tented upper lip vermilion, Microcephaly, Cleft palate |
Arms and legs | 2 | Hypoplastic fingernail, Shortening of all distal phalanges of the fingers |
Ears | 1 | Hearing loss (hearing impairment) |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Muscles | 1 | Low muscle tone (hypotonia) |
Lungs and breathing | 1 | Peripheral pulmonary artery stenosis |
Growth and development | 1 | Growth delay |
Heart and blood vessels | 1 | Atrial septal defect |
PIGO function has not been fully characterized.
Hyperphosphatasia with intellectual disability syndrome 2 is associated with mutations in the PIGO gene on chromosome 9.
Genetic testing for PIGO is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 16 always present features, 12 common features.
No clinical trials have been registered for hyperphosphatasia with intellectual disability syndrome 2.
8 publications have been identified in PubMed for hyperphosphatasia with intellectual disability syndrome 2. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (25%), and Clinical Trial Publication (13%).
Wilke MVMB (2026). [PMID: 40799153](https://pubmed.ncbi.nlm.nih.gov/40799153/). *Am J Med Genet A*. [Case Report / Case Series]
Beşen Ş (2026). [PMID: 41622609](https://pubmed.ncbi.nlm.nih.gov/41622609/). *Ann Indian Acad Neurol*. [Clinical Trial Publication]
Burgac E (2026). [PMID: 41064048](https://pubmed.ncbi.nlm.nih.gov/41064048/). *Mol Syndromol*. [Case Report / Case Series]
Salmaninejad A (2026). [PMID: 41866703](https://pubmed.ncbi.nlm.nih.gov/41866703/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Zambiasi A (2025). [PMID: 40514788](https://pubmed.ncbi.nlm.nih.gov/40514788/). *Prenat Diagn*. [Case Report / Case Series]
Wang X (2025). [PMID: 41169893](https://pubmed.ncbi.nlm.nih.gov/41169893/). *Front Pediatr*. [Case Report / Case Series]
Pan Y (2024). [PMID: 39687712](https://pubmed.ncbi.nlm.nih.gov/39687712/). *Front Pediatr*. [Case Report / Case Series]
Thompson MD (2024). [PMID: 38790248](https://pubmed.ncbi.nlm.nih.gov/38790248/). *Genes (Basel)*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:03 AM UTC
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