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Atlas / Disease / Lipodystrophy, familial partial, type 8

Lipodystrophy, familial partial, type 8

disease
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Summary

Lipodystrophy, familial partial, type 8 (MONDO:0958022) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namelipodystrophy, familial partial, type 8
Mondo IDMONDO:0958022
OMIM620679
UMLSC5882744
MedGen1846436
GARD0026913
Is cancer (heuristic)no

Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › hereditary lipodystrophy › familial partial lipodystrophy › lipodystrophy, familial partial, type 8

Related subtypes (9): familial partial lipodystrophy, Dunnigan type, PPARG-related familial partial lipodystrophy, familial partial lipodystrophy, Kobberling type, PLIN1-related familial partial lipodystrophy, CIDEC-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy, autosomal semi-dominant severe lipodystrophic laminopathy, AKT2-related familial partial lipodystrophy, lipodystrophy, familial partial, type 9

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
2691730NM_000681.4(ADRA2A):c.*427A>GADRA2APathogenicno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
ADRA2ALimitedAutosomal dominantlipodystrophy2

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ADRA2AHGNC:281ENSG00000150594P08913Alpha-2A adrenergic receptorgencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ADRA2AAlpha-2A adrenergic receptorAlpha-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.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
GPCR123.9×0.042

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ADRA2AGPCRyesGPCR_Rhodpsn, ADRA2A_rcpt, ADR_fam

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
cortical plate1
endocervix1
subcutaneous adipose tissue1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ADRA2A234broadmarkercortical plate, subcutaneous adipose tissue, endocervix

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
ADRA2A1,246

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
ADRA2AP0891319

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 19. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Adrenaline signalling through Alpha-2 adrenergic receptor13806.7×0.005ADRA2A
Adrenoceptors11268.9×0.007ADRA2A
Platelet Aggregation (Plug Formation)1439.2×0.009ADRA2A
Adrenaline,noradrenaline inhibits insulin secretion1393.8×0.009ADRA2A
Surfactant metabolism1368.4×0.009ADRA2A
Amine ligand-binding receptors1346.1×0.009ADRA2A
G alpha (z) signalling events1233.1×0.011ADRA2A
Regulation of insulin secretion1219.6×0.011ADRA2A
Integration of energy metabolism1175.7×0.012ADRA2A
Platelet activation, signaling and aggregation1105.7×0.018ADRA2A
Class A/1 (Rhodopsin-like receptors)174.2×0.023ADRA2A
GPCR ligand binding164.2×0.025ADRA2A
GPCR downstream signalling143.4×0.032ADRA2A
Signaling by GPCR140.1×0.032ADRA2A
G alpha (i) signalling events139.0×0.032ADRA2A
Hemostasis136.0×0.033ADRA2A
Metabolism of proteins112.4×0.090ADRA2A
Metabolism111.6×0.091ADRA2A
Signal Transduction110.2×0.098ADRA2A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
negative regulation of uterine smooth muscle contraction116852.0×0.002ADRA2A
phospholipase C-activating adrenergic receptor signaling pathway18426.0×0.002ADRA2A
thermoception14213.0×0.002ADRA2A
negative regulation of epinephrine secretion13370.4×0.002ADRA2A
adenylate cyclase-inhibiting adrenergic receptor signaling pathway13370.4×0.002ADRA2A
negative regulation of norepinephrine secretion12808.7×0.002ADRA2A
fear response12808.7×0.002ADRA2A
positive regulation of potassium ion transport12106.5×0.002ADRA2A
negative regulation of calcium ion-dependent exocytosis11872.4×0.002ADRA2A
adrenergic receptor signaling pathway11872.4×0.002ADRA2A
negative regulation of calcium ion transport11685.2×0.002ADRA2A
negative regulation of insulin secretion involved in cellular response to glucose stimulus11685.2×0.002ADRA2A
response to alcohol11532.0×0.002ADRA2A
response to morphine11203.7×0.002ADRA2A
intestinal absorption11203.7×0.002ADRA2A
adenylate cyclase-activating adrenergic receptor signaling pathway11203.7×0.002ADRA2A
positive regulation of membrane protein ectodomain proteolysis1936.2×0.003ADRA2A
negative regulation of lipid catabolic process1842.6×0.003ADRA2A
regulation of vasoconstriction1802.5×0.003ADRA2A
positive regulation of wound healing1526.6×0.004ADRA2A
positive regulation of epidermal growth factor receptor signaling pathway1495.6×0.004ADRA2A
negative regulation of insulin secretion1495.6×0.004ADRA2A
presynaptic modulation of chemical synaptic transmission1455.5×0.004ADRA2A
cellular response to hormone stimulus1383.0×0.004ADRA2A
vasodilation1366.4×0.004ADRA2A
positive regulation of cytokine production1271.8×0.006ADRA2A
platelet activation1267.5×0.006ADRA2A
epidermal growth factor receptor signaling pathway1247.8×0.006ADRA2A
Rho protein signal transduction1247.8×0.006ADRA2A
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway1218.9×0.006ADRA2A

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
ADRA2ACANDESARTAN CILEXETIL

Top cohort targets by molecule count

SymbolMoleculesMax phase
ADRA2A4184

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CANDESARTAN CILEXETIL4ADRA2A
TELMISARTAN4ADRA2A
BEXAROTENE4ADRA2A
CLOTRIMAZOLE4ADRA2A
METHYSERGIDE4ADRA2A
TIZANIDINE4ADRA2A
ACETOPHENAZINE4ADRA2A
MESORIDAZINE4ADRA2A
PHENELZINE4ADRA2A
EPINASTINE4ADRA2A
DROPERIDOL4ADRA2A
ARIPIPRAZOLE4ADRA2A
AMOXAPINE4ADRA2A
NORETHINDRONE4ADRA2A
DESLORATADINE4ADRA2A
TETRABENAZINE4ADRA2A
PALONOSETRON4ADRA2A
DIETHYLPROPION4ADRA2A
TIZANIDINE HYDROCHLORIDE4ADRA2A
DIMENHYDRINATE4ADRA2A
NEFAZODONE HYDROCHLORIDE4ADRA2A
GUANFACINE HYDROCHLORIDE4ADRA2A
DIHYDROERGOTAMINE MESYLATE4ADRA2A
OXYMETAZOLINE HYDROCHLORIDE4ADRA2A
AZELASTINE HYDROCHLORIDE4ADRA2A
THIOTHIXENE4ADRA2A
BENZTHIAZIDE4ADRA2A
CABERGOLINE4ADRA2A
SERTACONAZOLE4ADRA2A
BENZTROPINE4ADRA2A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
ADRA2A896Binding:687, Functional:190, ADMET:17, Unclassified:2

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
ADRA2A896

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
CANDESARTAN CILEXETIL4ADRA2A
TELMISARTAN4ADRA2A
BEXAROTENE4ADRA2A
CLOTRIMAZOLE4ADRA2A
METHYSERGIDE4ADRA2A
TIZANIDINE4ADRA2A
ACETOPHENAZINE4ADRA2A
MESORIDAZINE4ADRA2A
PHENELZINE4ADRA2A
EPINASTINE4ADRA2A
DROPERIDOL4ADRA2A
ARIPIPRAZOLE4ADRA2A
AMOXAPINE4ADRA2A
NORETHINDRONE4ADRA2A
DESLORATADINE4ADRA2A
TETRABENAZINE4ADRA2A
PALONOSETRON4ADRA2A
DIETHYLPROPION4ADRA2A
TIZANIDINE HYDROCHLORIDE4ADRA2A
DIMENHYDRINATE4ADRA2A
NEFAZODONE HYDROCHLORIDE4ADRA2A
GUANFACINE HYDROCHLORIDE4ADRA2A
DIHYDROERGOTAMINE MESYLATE4ADRA2A
OXYMETAZOLINE HYDROCHLORIDE4ADRA2A
AZELASTINE HYDROCHLORIDE4ADRA2A
THIOTHIXENE4ADRA2A
BENZTHIAZIDE4ADRA2A
CABERGOLINE4ADRA2A
SERTACONAZOLE4ADRA2A
BENZTROPINE4ADRA2A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1ADRA2A
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot