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Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
Features include always present findings: Tented upper lip vermilion, Seizure, Elevated circulating alkaline phosphatase concentration, and Motor delay and others; and very common findings: Low muscle tone (hypotonia). 38 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 12 | Bilateral tonic-clonic seizure, Mild intellectual disability, Inability to walk |
Muscles | 4 | Severe muscular hypotonia, Low muscle tone (hypotonia), Brain atrophy |
Head and neck | 3 | Tented upper lip vermilion, Microcephaly, Cleft palate |
Arms and legs | 2 | Hypoplastic fifth fingernail, Shortening of all distal phalanges of the fingers |
Eyes | 1 | Strabismus |
Growth and development | 1 | Short stature |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Pregnancy and birth | 1 | Decreased fetal movement |
Heart and blood vessels | 1 | Atrial septal defect |
PGAP2 function has not been fully characterized.
Hyperphosphatasia with intellectual disability syndrome 3 is associated with mutations in the PGAP2 gene on chromosome 11.
Genetic testing for PGAP2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features, 1 very common feature, 29 common features.
No clinical trials have been registered for hyperphosphatasia with intellectual disability syndrome 3.
7 publications have been identified in PubMed for hyperphosphatasia with intellectual disability syndrome 3. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Other (14%).
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*. [Clinical Trial Publication]
Zambiasi A (2025). [PMID: 40514788](https://pubmed.ncbi.nlm.nih.gov/40514788/). *Prenat Diagn*. [Case Report / Case Series]
Küçükçongar Yavaş A (2025). [PMID: 41059450](https://pubmed.ncbi.nlm.nih.gov/41059450/). *Mol Syndromol*. [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]
Thompson MD (2024). [PMID: 38927651](https://pubmed.ncbi.nlm.nih.gov/38927651/). *Genes (Basel)*. [Other]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
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