Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Hypertriglyceridemia, Dorsocervical fat pad, and Hyperglycemia and others; and common findings: Obstructive sleep apnea, Enlarged liver (hepatomegaly), Acanthosis nigricans, and Gout and others.

ADRA2A encodes adrenoceptor alpha 2A (465 aa). Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Highest expression in Cervix Ectocervix (98.9 TPM) and Adipose Subcutaneous (91.9 TPM).

Lipodystrophy, familial partial, type 8 is associated with mutations in the ADRA2A gene on chromosome 10.

The ADRA2A protein participates in ADRA2A-C:Catecholamine:Heterotrimeric G-protein Gz (active), α2-agonists bind ADRA2A,B,C, and ADRA2A,B,C bind ADR,NAd pathways.

ADRA2A is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 0.6.

1 pathogenic variant reported in ADRA2A in ClinVar.

Genetic testing for ADRA2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lipodystrophy, familial partial, type 8 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 5 common features.

No clinical trials have been registered for lipodystrophy, familial partial, type 8.

13 publications have been identified in PubMed for lipodystrophy, familial partial, type 8. Research spans Diagnostic / Biomarker (31%), Case Report / Case Series (23%), and Basic Science / Preclinical (23%).