[NTR/gene] ALPL-related autosomal dominant hypophosphatasia

[RyanFWebb]

Preferred gene-related syndrome label
ALPL-related autosomal dominant hypophosphatasia

Synonyms

Parent term (use OLS, or your favorite ontology browser)
hypophosphatasia

Definition
Any autosomal dominant hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
'odontohypophosphatasia'
'moderate hypophosphatasia'
'mild hypophosphatasia'

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel

[nicolevasilevsky]

Hi @RyanFWebb thanks for your ticket. I have the same question as on #8755

Is this new term related to any of these terms?

• 'mild hypophosphatasia'
• 'moderate hypophosphatasia'
• odontohypophosphatasia
• 'perinatal lethal hypophosphatasia'
• 'severe hypophosphatasia'

(See related ticket: #2906)

[RyanFWebb]

Hi @nicolevasilevsky I've updated this ticket accordingly so that 'mild hypophosphatasia', 'moderate hypophosphatasia', and 'odontohypophosphatasia' are all listed as children.

Additionally, I've updated the disease term due to multiple mechanisms of disease.

[nicolevasilevsky]

Hi @RyanFWebb - I added these new terms and grouped them accordingly:

According to this paper and according to orphanet 'moderate hypophosphatasia' and odontohypophosphatasia can have both AD and AR inheritance. In the ontology, we can only state that the term has one type of inheritance, we don't have the ability to say AD or AR.