NTR: LIPHAK syndrome

[srengel]

Include:

• new disease terms or updates to DO's disease terms

NTR: LIPHAK syndrome

• previously undescribed recessive dermatological condition named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses)

• affected locus: ribosome biogenesis factor gene LTV1

• include the term name in the title of the request

• It is helpful to include a definition and PubMed reference for new terms

https://pubmed.ncbi.nlm.nih.gov/34999892/

• It is useful to share information on the relevant project

SGD is using DO to annotate S.cerevisiae homologs of human disease genes when used in experiments to study that disease https://www.yeastgenome.org/

• include contact information along with your ORCID id, so that we can provide attribution for your contribution

Stacia Engel, SGD http://orcid.org/0000-0001-5472-917X

[allenbaron]

We're working to clear our request backlogs. If this doesn't get into this month's release. It will be in the next. Thanks Stacia for requesting this term!

[srengel]

Awesome @allenbaron thank you!

[allenbaron]

Stacia, This disease will be in the Dec release as promised (DOID:0070510).

Nomenclature notes (primarily for future reference)

The literature on this disease is currently limited to 2 publications (only one with patients). The authors seem to prefer 'LIPHAK syndrome', while the IPHAK acronym has not been used (only Europe PMC search hit is a typo of a similar acronym).

The label will be the name from OMIM (to discourage use of genes in disease names) and IPHAK, LIPHAK, and 'LIPHAK syndrome' will be added as synonyms. The full name proposed in PMID:34999892, 'LTV1-associated inflammatory poikiloderma with hair abnormalities and acral keratoses', will be excluded for the time-being given OMIM's name is unique and should suffice as a replacement in all circumstances. Since the DO diligently works to align with clinical practice, the name used as the primary label may change, depending on how the literature plays out.