New Term Request: Halperin-Birk syndrome

[vjenkinsFB]

I'd like to request a term for Halperin-Birk syndrome. There is only one report of this syndrome, so if that’s not enough to merit a DO term yet, please let me know.

OMIM: https://omim.org/entry/618651

Potential definition: Halperin-Birk syndrome has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.

Potential parent term: syndrome

Synonyms: HLBKS, neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, NEDSOSB

ClinVar search term: SEC31A[gene]

Medgen: https://www.ncbi.nlm.nih.gov/medgen/C5231442

MalaCards page: https://www.malacards.org/card/halperin_birk_syndrome

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/17052

FlyBase paper(s) to curate with this term: FBrf0241565

My contact info: [email protected] (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for Halperin-Birk syndrome, @vjenkinsFB.

We'll review it, get back to you soon and update the DO for the next release.

[allenbaron]

'Halperin-Birk syndrome' will be in the next release as DOID:0070539. I've classified this disease as a syndrome for now given the very limited number of patients (1 family, 2 patients; no additional patients have been identified as far as I can tell).

I'm also noting that a more recent article describes a disease with what seem like very different phenotypes (pituitary hormone deficiency and gonadal dysgenesis) associated with heterozygous mutation of SEC31A in 3 patients of the same family (https://pubmed.ncbi.nlm.nih.gov/38400880/). I have not created a new disease based on this publication. As always if you need a DO term for this disease, please feel free to ask.

Sorry for the delay and thanks for the submission!