New Term Request: Parkinsonism-dystonia, infantile, 1

[vjenkinsFB]

I'd like to request a term for Parkinsonism-dystonia, infantile, 1. This is a member of a short phenotypic series (https://omim.org/phenotypicSeries/PS613135), none of which have DO terms. The causative gene is often incorrectly referred to as DAT or DAT1.

OMIM: https://omim.org/entry/613135

Potential definition: Parkinsonism-dystonia, infantile, 1 has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.

Potential parent term: Parkinsonism? or a Parkinsonism-dystonia parent disease for this series

Synonyms: PKDYS1; dopamine transporter deficiency syndrome; DTDS; SLC6A3-related dopamine transporter deficiency syndrome

ClinVar search term: SLC6A3[gene] AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig vus"[Properties] or "clinsig uncertain risk allele"[Properties]) ) AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above:https://www.ncbi.nlm.nih.gov/medgen/C5700336/ Classic dopamine transporter deficiency syndrome; https://www.ncbi.nlm.nih.gov/medgen/C2751067/ Parkinsonism-dystonia, infantile. There is some confusion when comparing these two pages - I’ve written NLM and asked them to sort this out.

Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK442323/ SLC6A3-related dopamine transporter deficiency syndrome

MalaCards page: https://www.malacards.org/card/parkinsonism_dystonia_1_infantile_onset

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11049

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/37443770/ Ng J, Barral S, Waddington SN, Kurian MA. Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches. Cells. 2023;12(13):1737. Published 2023 Jun 28. doi:10.3390/cells12131737
• https://pubmed.ncbi.nlm.nih.gov/33109474/ Leuzzi V, Nardecchia F, Pons R, Galosi S. Parkinsonism in children: Clinical classification and etiological spectrum. Parkinsonism Relat Disord. 2021;82:150-157. doi:10.1016/j.parkreldis.2020.10.002
• https://pubmed.ncbi.nlm.nih.gov/34002696/ Aguilar JI, Cheng MH, Font J, et al. Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia. Elife. 2021;10:e68039. Published 2021 May 18. doi:10.7554/eLife.68039
• https://pubmed.ncbi.nlm.nih.gov/28972153/ Asjad HMM, Kasture A, El-Kasaby A, et al. Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism. J Biol Chem. 2017;292(47):19250-19265. doi:10.1074/jbc.M117.797092

FlyBase paper(s) to curate with this term: FBrf0250876, papers listed at FBhh0000749

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[allenbaron]

Thanks Victoria! I am actually in the process of adding this disease and the other members of the phenotypic series as part of #1154. I'm going to close this one as duplicate. Expect this disease in the November release.

[vjenkinsFB]

Oh nooooo I hate it when I do this :( I usually don't get to the posting stage before I realize it is a duplicate request! Very sorry about this.

[vjenkinsFB]

Well, at least one thing will be better because of this, someone at the NLM wrote me back and they're going to fix those MedGen entries early next week.

[allenbaron]

No need to apologize! I'm happy that I am working on it. I'm sorry you had to submit it twice (but glad it wasn't all wasted effort). I'm hoping we catch up with all requests by year's end.

[vjenkinsFB]

Sounds fantastic, thank you so much!

[vjenkinsFB]

While you're here, is anyone from Disease Ontology going to the TAGC meeting (https://genetics-gsa.org/tagc-2024/)? All of the model organism databases there use DO, I'm sure they would be interested in talking with y'all. Plus, it's in Maryland, no need to fly anywhere.

[allenbaron]

Most of our team has a commitment to be at the Biocuration conference in India during this time but I'm not planning to make that trip and may attend. I'm glad you asked because it reminds me that I keep meaning to discuss this with @lschriml.

[vjenkinsFB]

It is unfortunate that those meetings overlap. I hope you do come!