Semidominant ALPL-related disorders: genes and variants
Semidominant ALPL-related disorders is linked to 1 analyzed protein (ALPL). 6 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Semidominant ALPL-related disorders
ALPL: Alkaline phosphatase, tissue-nonspecific isozyme
It hydrolyzes extracellular pyrophosphate and other phosphate-containing substrates, enabling normal mineralization of bone and teeth. Loss-of-function variants cause hypophosphatasia, with severity ranging from lethal perinatal skeletal hypomineralization to adult fractures and dental disease.
6 disease-causing and 1 uncertain variants in ALPL are linked to Semidominant ALPL-related disorders.
Known disease-causing variants in Semidominant ALPL-related disorders
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ALPL A179T | 179 | Disease-causing (★★) | |
| ALPL D378V | 378 | Disease-causing (★★) | |
| ALPL S181L | 181 | Disease-causing (★★) | |
| ALPL R136H | 136 | Disease-causing (★★) | |
| ALPL A132V | 132 | Disease-causing (★★) | |
| ALPL L414V | 414 | Disease-causing (★★) |
Same protein, different disease
- Hypophosphatasia is also caused by ALPL variants; they fall mostly in different places as the Semidominant ALPL-related disorders variants (172 disease-causing).
- Adult hypophosphatasia is also caused by ALPL variants; they fall mostly in different places as the Semidominant ALPL-related disorders variants (113 disease-causing).
- Childhood hypophosphatasia is also caused by ALPL variants; they fall mostly in different places as the Semidominant ALPL-related disorders variants (60 disease-causing).
- Infantile hypophosphatasia is also caused by ALPL variants; they fall mostly in different places as the Semidominant ALPL-related disorders variants (40 disease-causing).
- Hypophosphataemia or rickets is also caused by ALPL variants; they fall partly in the same places as the Semidominant ALPL-related disorders variants (8 disease-causing).
Diseases related to Semidominant ALPL-related disorders
- Osteogenesis imperfecta, also linked to ALPL
- Hypophosphatasia, also linked to ALPL
- Adult hypophosphatasia, also linked to ALPL
- Childhood hypophosphatasia, also linked to ALPL
- Infantile hypophosphatasia, also linked to ALPL
- Hypophosphataemia or rickets, also linked to ALPL
- Paediatric disorders, also linked to ALPL
Frequently asked questions
Which genes are linked to Semidominant ALPL-related disorders?
In CATVariant, Semidominant ALPL-related disorders is linked to 1 analyzed protein: ALPL (Alkaline phosphatase, tissue-nonspecific isozyme).
How many genetic variants are linked to Semidominant ALPL-related disorders?
7 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Semidominant ALPL-related disorders look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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