Previous symbols: HOPS. Aliases: TNSALP, TNALP, TNAP.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Hypophosphatasia | causative |
mechanism: ALPL loss of function and TNAP deficiency
animal model: Odontohypophosphatasia knock-in mouse (Alpl A116T heterozygote); TNAP-null mouse (Alpl knockout); TNAP-null mouse, Soriano line (Alpl tm1Sor)
|
| Mabry Syndrome | biomarker |
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| ALPL-related autosomal dominant hypophosphatasia MONDO:0100608 | AD | Definitive 2021-05-19 |
no dismech entry |
| ALPL-related autosomal recessive hypophosphatasia MONDO:0100609 | AR | Definitive 2021-01-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.