Features include always present findings: Hypsarrhythmia, Low muscle tone (hypotonia), Motor delay, and Failure to thrive and others; and common findings: Inguinal hernia, Seizure, Blepharophimosis, and Thin corpus callosum and others. 45 total HPO annotations.

ATP6V1A encodes ATPase H+ transporting V1 subunit A (617 aa). Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. Highest expression in Brain Cerebellar Hemisphere (110.6 TPM) and Brain Frontal Cortex BA9 (104.8 TPM).

Autosomal recessive cutis laxa type 2D has limited evidence linking it to mutations in the ATP6V1A gene on chromosome 3.

The ATP6V1A protein participates in MITF-M-dependent ATP6V1A gene expression pathway.

ATP6V1A is classified as a druggable target (Enzyme and Transporter categories) with score 26.1.

Genetic testing for ATP6V1A is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 13 always present features, 29 common features.

No clinical trials have been registered for autosomal recessive cutis laxa type 2D.

2 publications have been identified in PubMed for autosomal recessive cutis laxa type 2D. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Kopp J (2024). [PMID: 39680136](https://pubmed.ncbi.nlm.nih.gov/39680136/). *Cell Mol Life Sci*. [Basic Science / Preclinical]

• Carpentieri G (2024). [PMID: 39210597](https://pubmed.ncbi.nlm.nih.gov/39210597/). *HGG Adv*. [Case Report / Case Series]