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Atlas / Disease / Bulimia nervosa

Bulimia nervosa

disease
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Also known as bulimiahyperorexia nervosa

Summary

Bulimia nervosa (MONDO:0005452) is a disease with 30 cohort genes (23 GWAS associations across 1 studies) and 150 clinical trials. Top therapeutic interventions include phentermine, prazosin, and topiramate.

At a glance

  • Cohort genes: 30
  • GWAS associations: 23
  • Clinical trials: 150

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namebulimia nervosa
Mondo IDMONDO:0005452
EFOEFO:0005204
MeSHD052018
DOIDDOID:12129
ICD-10-CMF50.2
ICD-11509381842
NCITC34440
SNOMED CT78004001
UMLSC2267227
MedGen389218
Is cancer (heuristic)no

Also known as: bulimia · hyperorexia nervosa

Data availability: 23 GWAS associations (1 study).

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › eating disorder › bulimia nervosa

Related subtypes (5): rumination disorder, pica disease, anorexia nervosa, binge eating disorder, avoidant/restrictive food intake disorder

Genetics & variants

GWAS landscape

23 GWAS associations across 1 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs14451301e-07NT5C1B - LINC01376A0.06
rs1420142039e-07NKAIN3T0.13
rs776000761e-06CHODLA0.12
rs15566402e-06PERPT0.07
rs1170968732e-06RMI2C0.13
rs9857952e-06DAB1T0.09
rs1113835892e-06TUG1 - RN7SL633PC0.09
rs1453790833e-06EXOC5P1 - LARP1BP1G0.04
rs2993623e-06PCBD2, CATSPER3A0.06
rs80408553e-06PDE8A - NIFKP8C0.04
rs286310203e-06RNU7-66P - RNA5SP208G0.08
rs1156946184e-06AFF1 - KLHL8A0.12
rs129862074e-06VSTM2B-DTG0.04
rs561486755e-06MIR4431 - ASB3T0.08
rs80243436e-06AGBL1 - RNU6-185PA0.04
rs748799866e-06PCDH7 - LINC02497G0.14
rs29101246e-06COL23A1C0.06
rs617428496e-06MAGI3G0.18
rs117083046e-06MAF1P1 - FAM76AP1C0.06
rs77247747e-06CCDC69G0.05
rs786617457e-06NGRNP1 - MIR1263C0.07
rs69996318e-06MSRAC0.09
rs1171243649e-06EPCIP-AS1C0.16

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST001958Wade TD20131512,291Genetic variants associated with disordered eating.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic21

MAF distribution

BucketVariants
common (>=0.05)15
low_freq (0.01-0.05)8
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intergenic_variant11
intron_variant10
splice_donor_5th_base_variant1
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs1445130218653385A>G0.136intron_variantNT5C1B - LINC013761e-07Tier 4: intronic/intergenic
rs142014203862346358T>G0.026intron_variantNKAIN39e-07Tier 4: intronic/intergenic
rs776000762118159125A>C0.029intron_variantCHODL1e-06Tier 4: intronic/intergenic
rs15566406138104895C>G,T0.12intron_variantPERP2e-06Tier 4: intronic/intergenic
rs1170968731611293103C>G,T0.026intron_variantRMI22e-06Tier 4: intronic/intergenic
rs985795157854156T>G0.054intergenic_variantDAB12e-06Tier 4: intronic/intergenic
rs1113835892231042375C>A,G,T0.108intergenic_variantTUG1 - RN7SL633P2e-06Tier 4: intronic/intergenic
rs145379083463027560G>A0.49intergenic_variantEXOC5P1 - LARP1BP13e-06Tier 4: intronic/intergenic
rs2993625134985856G>A0.114intron_variantPCBD2, CATSPER33e-06Tier 4: intronic/intergenic
rs80408551585155976G>A,C,T0.366intergenic_variantPDE8A - NIFKP83e-06Tier 4: intronic/intergenic
rs28631020666943386G>A,C,T0.075intergenic_variantRNU7-66P - RNA5SP2083e-06Tier 4: intronic/intergenic
rs115694618487154977A>G0.021intergenic_variantAFF1 - KLHL84e-06Tier 4: intronic/intergenic
rs129862071929412770G>A,C0.183splice_donor_5th_base_variantVSTM2B-DT4e-06Tier 2: splice/UTR
rs56148675253529404T>C0.058intergenic_variantMIR4431 - ASB35e-06Tier 4: intronic/intergenic
rs80243431587166835A>T0.169intergenic_variantAGBL1 - RNU6-185P6e-06Tier 4: intronic/intergenic
rs74879986431154556G>A,T0.025intergenic_variantPCDH7 - LINC024976e-06Tier 4: intronic/intergenic
rs29101245178381674C>A,T0.142intron_variantCOL23A16e-06Tier 4: intronic/intergenic
rs617428491113683521G>A,C,T0.025missense_variantMAGI36e-06Tier 1: coding
rs117083043133542030C>T0.147intergenic_variantMAF1P1 - FAM76AP16e-06Tier 4: intronic/intergenic
rs77247745151206306G>A0.116intron_variantCCDC697e-06Tier 4: intronic/intergenic
rs786617453164137281C>A,T0.092intergenic_variantNGRNP1 - MIR12637e-06Tier 4: intronic/intergenic
rs6999631810228901G>C,T0.035intron_variantMSRA8e-06Tier 4: intronic/intergenic
rs1171243642132997453C>T0.023intron_variantEPCIP-AS19e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 10 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
PERPOrphanet:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
SOCS1Orphanet:619948Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
DAB1Orphanet:363710Spinocerebellar ataxia type 37
GM2AOrphanet:309246GM2 gangliosidosis, AB variant
AFF1Orphanet:589595Mixed phenotype acute leukemia with t(v;11q23.3)
PITX1Orphanet:1275Brachydactyly-elbow wrist dysplasia syndrome
PITX1Orphanet:293144Familial clubfoot due to 5q31 microdeletion
PITX1Orphanet:293150Familial clubfoot due to PITX1 point mutation
PITX1Orphanet:498494Mirror-image polydactyly
TMPRSS15Orphanet:168601Congenital enteropathy due to enteropeptidase deficiency

Cohort genes → proteins

30 cohort genes, 30 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only30

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SMTNHGNC:11126ENSG00000183963P53814Smoothelingwas
TNP2HGNC:11952ENSG00000178279Q05952Nuclear transition protein 2gwas
PRM3HGNC:13732ENSG00000178257Q9NNZ6Protamine-3gwas
PERPHGNC:17637ENSG00000112378Q96FX8p53 apoptosis effector related to PMP-22gwas
CHODLHGNC:17807ENSG00000154645Q9H9P2Chondrolectingwas
NT5C1BHGNC:17818ENSG00000185013Q96P26Cytosolic 5’-nucleotidase 1Bgwas
KLHL8HGNC:18644ENSG00000145332Q9P2G9Kelch-like protein 8gwas
HSD17B13HGNC:18685ENSG00000170509Q7Z5P417-beta-hydroxysteroid dehydrogenase 13gwas
SOCS1HGNC:19383ENSG00000185338O15524Suppressor of cytokine signaling 1gwas
CATSPER3HGNC:20819ENSG00000152705Q86XQ3Cation channel sperm-associated protein 3gwas
HSD17B11HGNC:22960ENSG00000198189Q8NBQ5Estradiol 17-beta-dehydrogenase 11gwas
COL23A1HGNC:22990ENSG00000050767Q86Y22Collagen alpha-1(XXIII) chaingwas
PCBD2HGNC:24474ENSG00000132570Q9H0N5Pterin-4-alpha-carbinolamine dehydratase 2gwas
CCDC69HGNC:24487ENSG00000198624A6NI79Coiled-coil domain-containing protein 69gwas
DAB1HGNC:2661ENSG00000173406O75553Disabled homolog 1gwas
NKAIN3HGNC:26829ENSG00000185942Q8N8D7Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3gwas
CDV3HGNC:26928ENSG00000091527Q9UKY7Protein CDV3 homologgwas
C4orf36HGNC:28386ENSG00000163633Q96KX1Uncharacterized protein C4orf36gwas
MAGI3HGNC:29647ENSG00000081026Q5TCQ9Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3gwas
VSTM2BHGNC:33595ENSG00000187135A6NLU5V-set and transmembrane domain-containing protein 2Bgwas
GM2AHGNC:4367ENSG00000196743P17900Ganglioside GM2 activatorgwas
AFF1HGNC:7135ENSG00000172493P51825AF4/FMR2 family member 1gwas
MSRAHGNC:7377ENSG00000175806Q9UJ68Mitochondrial peptide methionine sulfoxide reductasegwas
PDE8AHGNC:8793ENSG00000073417O60658High affinity cAMP-specific and IBMX-insensitive 3’,5’-cyclic phosphodiesterase 8Agwas
PHTF1HGNC:8939ENSG00000116793Q9UMS5Protein PHTF1gwas
PITX1HGNC:9004ENSG00000069011P78337Pituitary homeobox 1gwas
OLIG2HGNC:9398ENSG00000205927Q13516Oligodendrocyte transcription factor 2gwas
PRM1HGNC:9447ENSG00000175646P04553Sperm protamine P1gwas
PRM2HGNC:9448ENSG00000122304P04554Protamine-2gwas
TMPRSS15HGNC:9490ENSG00000154646P98073Enteropeptidasegwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SMTNSmoothelinStructural protein of the cytoskeleton.
TNP2Nuclear transition protein 2Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals.
PRM3Protamine-3Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis.
PERPp53 apoptosis effector related to PMP-22Component of intercellular desmosome junctions.
CHODLChondrolectinMay play a role in the development of the nervous system such as in neurite outgrowth and elongation.
NT5C1BCytosolic 5’-nucleotidase 1BCatalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, AMP is the major substrate.
KLHL8Kelch-like protein 8Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.
HSD17B1317-beta-hydroxysteroid dehydrogenase 13Plays a pivotal role in hepatic lipid metabolism.
SOCS1Suppressor of cytokine signaling 1Essential negative regulator of type I and type II interferon (IFN) signaling, as well as that of other cytokines, including IL2, IL4, IL6 and leukemia inhibitory factor (LIF).
CATSPER3Cation channel sperm-associated protein 3Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acros…
HSD17B11Estradiol 17-beta-dehydrogenase 11Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis.
PCBD2Pterin-4-alpha-carbinolamine dehydratase 2Involved in tetrahydrobiopterin biosynthesis.
CCDC69Coiled-coil domain-containing protein 69May act as a scaffold to regulate the recruitment and assembly of spindle midzone components.
DAB1Disabled homolog 1Signaling adapter of the reelin-mediated signaling pathway, which regulates the migration and differentiation of postmitotic neurons during brain development.
MAGI3Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes.
GM2AGanglioside GM2 activatorThe large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity.
MSRAMitochondrial peptide methionine sulfoxide reductaseCatalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine.
PDE8AHigh affinity cAMP-specific and IBMX-insensitive 3’,5’-cyclic phosphodiesterase 8AHydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
PITX1Pituitary homeobox 1Sequence-specific transcription factor that binds gene promoters and activates their transcription.
OLIG2Oligodendrocyte transcription factor 2Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain.
PRM1Sperm protamine P1Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis.
PRM2Protamine-2Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis.
TMPRSS15EnteropeptidaseResponsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A).

Protein-family classification

Druggable: 6 · Difficult: 5 · Unknown: 19 · Druggable fraction: 0.2

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
Ion channel13.7×0.830
Protease11.2×0.830
Other/Unknown191.1×0.830
Transcription factor41.1×0.830
Antibody/Immunoglobulin11.0×0.830
Kinase10.9×0.830
Enzyme (other)20.8×0.830
Scaffold/PPI10.6×0.833

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SMTNOther/UnknownnoCH_dom, SMTN, CH_dom_sf
TNP2Other/UnknownnoTP2
PRM3Other/UnknownnoPRMP3
PERPTranscription factornoPMP22/EMP/MP20/Claudin, P53_induced
CHODLOther/UnknownnoC-type_lectin-like, C-type_lectin-like/link_sf, CTDL_fold
NT5C1BOther/Unknownno5-nucleotidase
KLHL8Other/UnknownnoBTB/POZ_dom, Kelch_1, Gal_Oxase/kelch_b-propeller
HSD17B13Other/UnknownnoSDR_fam, NAD(P)-bd_dom_sf
SOCS1Scaffold/PPInoSH2, SOCS_box, SOCS1_SH2
CATSPER3Ion channelyesIon_trans_dom, Volt_channel_dom_sf
HSD17B11Other/UnknownnoSDR_fam, NAD(P)-bd_dom_sf
COL23A1Other/UnknownnoCollagen, Collagen_Structural_Proteins
PCBD2Enzyme (other)yes4.2.1.96Pterin_deHydtase, PCD_sf
CCDC69Other/UnknownnoMTUS1/CCDC69
DAB1Other/UnknownnoPTB/PI_dom, PH-like_dom_sf, DAB1/2_SBM
NKAIN3Other/UnknownnoNa/K-Atpase_Interacting
CDV3Other/UnknownnoCDV3
C4orf36Other/UnknownnoDUF4522
MAGI3KinaseyesWW_dom, PDZ, Guanylate_kin-like_dom
VSTM2BAntibody/ImmunoglobulinyesIg_sub, Ig-like_dom, Ig_V-set
GM2AOther/UnknownnoML_dom, GM2-AP, GM2-AP_sf
AFF1Other/UnknownnoAF4/FMR2, AF4_int, AF4/FMR2_CHD
MSRAEnzyme (other)yes1.8.4.11Met_Sox_Rdtase_MsrA_dom, Met_Sox_Rdtase_MsrA_sf, MsrA_MetSO_reductase
PDE8ATranscription factorno3.1.4.53PAS, PDEase_catalytic_dom, HD/PDEase_dom
PHTF1Other/UnknownnoPHTF1/2_N, PHTF1/2
PITX1Transcription factornoHD, OAR_dom, Homeodomain-like_sf
OLIG2Transcription factornobHLH_dom, Olig2_bHLH, HLH_DNA-bd_sf
PRM1Other/UnknownnoProtamine_P1
PRM2Other/UnknownnoPRM2
TMPRSS15Proteaseyes3.4.21.9SEA_dom, CUB_dom, MAM_dom

Expression context

Cohort genes with no expression data: 0.

23 cohort genes 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)30
unknown0

Top tissues across cohort

TissueCohort genes
right testis7
left testis6
sperm5
jejunal mucosa3
lower esophagus2
lower esophagus muscularis layer2
male germ cell2
male germ line stem cell (sensu Vertebrata) in testis2
penis2
pharyngeal mucosa2
right lobe of liver2
duodenum2
cortical plate2
adult organism2
esophagogastric junction muscularis propria1
upper leg skin1
calcaneal tendon1
corpus epididymis1
kidney epithelium1
secondary oocyte1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SMTN242ubiquitousmarkerlower esophagus muscularis layer, lower esophagus, esophagogastric junction muscularis propria
TNP232tissue_specificyessperm, male germ cell, left testis
PRM3115tissue_specificmarkermale germ line stem cell (sensu Vertebrata) in testis, left testis, right testis
PERP277ubiquitousmarkerpenis, upper leg skin, pharyngeal mucosa
CHODL185broadmarkercalcaneal tendon, right testis, left testis
NT5C1B157tissue_specificyessperm, left testis, right testis
KLHL8256ubiquitousmarkercorpus epididymis, kidney epithelium, secondary oocyte
HSD17B13127tissue_specificyesliver, right lobe of liver, olfactory segment of nasal mucosa
SOCS1211ubiquitousmarkertype B pancreatic cell, sperm, endocervix
CATSPER3162tissue_specificyessperm, right testis, left testis
HSD17B11280ubiquitousmarkerjejunal mucosa, colonic mucosa, duodenum
COL23A1166broadyesright lobe of thyroid gland, left lobe of thyroid gland, thyroid gland
PCBD2238ubiquitousmarkertibialis anterior, deltoid, vastus lateralis
CCDC69271ubiquitousmarkermucosa of stomach, lower esophagus muscularis layer, lower esophagus
DAB1190broadmarkercortical plate, jejunal mucosa, sural nerve
NKAIN3168broadmarkerventricular zone, ganglionic eminence, entorhinal cortex
CDV3302ubiquitousmarkerparietal pleura, visceral pleura, pleura
C4orf36129tissue_specificyesmale germ line stem cell (sensu Vertebrata) in testis, right testis, left testis
MAGI3250ubiquitousmarkerlower lobe of lung, nasal cavity epithelium, ileal mucosa
VSTM2B75broadyesBrodmann (1909) area 9, superior frontal gyrus, primary visual cortex
GM2A284ubiquitousmarkermammalian vulva, penis, placenta
AFF1300ubiquitousmarkerchoroid plexus epithelium, renal medulla, skin of hip
MSRA134ubiquitousmarkercortical plate, adult mammalian kidney, right lobe of liver
PDE8A293ubiquitousmarkercorpus callosum, middle frontal gyrus, adrenal tissue
PHTF1224ubiquitousmarkerright hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
PITX1180broadmarkerlower esophagus mucosa, esophagus mucosa, pharyngeal mucosa
OLIG2102broadmarkerinferior vagus X ganglion, globus pallidus, medial globus pallidus
PRM1142tissue_specificmarkersperm, right testis, adult organism
PRM2140tissue_specificmarkerright testis, adult organism, male germ cell
TMPRSS1557tissue_specificmarkerjejunal mucosa, duodenum, olfactory bulb

Protein interactions among cohort

Intra-cohort edges: 11.

Hub genes (top 10 by interactor count)

SymbolInteractor count
HSD17B113,905
MAGI33,725
SOCS13,435
HSD17B133,393
OLIG22,538
MSRA2,363
AFF12,160
PITX11,884
NT5C1B1,745
VSTM2B1,279

Intra-cohort edges

ABSources
CATSPER3PCBD2string_interaction
CCDC69PERPstring_interaction
CHODLTMPRSS15string_interaction
CHODLVSTM2Bstring_interaction
MAGI3PHTF1string_interaction
PRM1PRM2string_interaction
PRM1PRM3string_interaction
PRM1TNP2string_interaction
PRM2PRM3string_interaction
PRM2TNP2string_interaction
PRM3TNP2string_interaction

Structural data

PDB: 9 · AlphaFold-only: 21 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
TMPRSS15P9807314
PDE8AO6065810
GM2AP179008
SMTNP538141
HSD17B13Q7Z5P41
HSD17B11Q8NBQ51
PCBD2Q9H0N51
MAGI3Q5TCQ91
AFF1P518251

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
KLHL8Q9P2G990.73
MSRAQ9UJ6889.13
CCDC69A6NI7985.55
SOCS1O1552484.20
PERPQ96FX882.59
CATSPER3Q86XQ380.01
NKAIN3Q8N8D777.17
C4orf36Q96KX177.06
CHODLQ9H9P276.83
VSTM2BA6NLU568.84
NT5C1BQ96P2663.86
PITX1P7833762.81
PHTF1Q9UMS562.01
CDV3Q9UKY761.82
OLIG2Q1351661.31
DAB1O7555359.20
TNP2Q0595259.17
COL23A1Q86Y2259.01
PRM3Q9NNZ658.43
PRM2P0455454.02
PRM1P0455354.01

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 50. Enrichment computed across 30 evidence-associated genes (13 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 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Replacement of protamines by nucleosomes in the male pronucleus241.8×0.050PRM1, PRM2
Estrogen biosynthesis1146.4×0.068HSD17B11
Protein repair1146.4×0.068MSRA
Reelin signalling pathway1146.4×0.068DAB1
Lipid particle organization1146.4×0.068HSD17B13
Sperm Motility And Taxes197.6×0.073CATSPER3
Nucleotide catabolism197.6×0.073NT5C1B
Purine catabolism179.9×0.078NT5C1B
Regulation of IFNG signaling162.8×0.085SOCS1
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain158.6×0.085PERP
Regulation of KIT signaling146.2×0.094SOCS1
Signaling by CSF3 (G-CSF)143.9×0.094SOCS1
Growth hormone receptor signaling136.6×0.097SOCS1
Regulation of IFNA/IFNB signaling133.8×0.097SOCS1
Inactivation of CSF3 (G-CSF) signaling133.8×0.097SOCS1
Interleukin-7 signaling124.4×0.115SOCS1
Metabolism of nucleotides123.1×0.115NT5C1B
Glycosphingolipid metabolism123.1×0.115GM2A
Glycosphingolipid catabolism122.5×0.115GM2A
Collagen chain trimerization120.0×0.122COL23A1
Signaling by SCF-KIT119.1×0.122SOCS1
Collagen degradation113.5×0.138COL23A1
Toll Like Receptor TLR6:TLR2 Cascade113.5×0.138SOCS1
Toll Like Receptor 2 (TLR2) Cascade113.3×0.138SOCS1
Collagen biosynthesis and modifying enzymes113.1×0.138COL23A1
Toll Like Receptor TLR1:TLR2 Cascade112.9×0.138SOCS1
Sphingolipid metabolism112.9×0.138GM2A
MyD88:MAL(TIRAP) cascade initiated on plasma membrane111.7×0.142SOCS1
Interferon alpha/beta signaling111.7×0.142SOCS1
Integrin cell surface interactions110.3×0.147COL23A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 25 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
chromosome condensation3101.1×4e-04PRM3, PRM1, PRM2
sperm DNA condensation271.0×0.014TNP2, PRM1
negative regulation of receptor signaling pathway via JAK-STAT271.0×0.014SOCS1, DAB1
chromosome organization246.5×0.024PRM1, PRM2
cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration1674.1×0.035DAB1
cerebellum structural organization1337.0×0.037DAB1
spindle midzone assembly1337.0×0.037CCDC69
purine nucleotide catabolic process1224.7×0.037NT5C1B
branchiomeric skeletal muscle development1224.7×0.037PITX1
spinal cord oligodendrocyte cell fate specification1224.7×0.037OLIG2
radial glia guided migration of Purkinje cell1224.7×0.037DAB1
negative regulation of CD8-positive, alpha-beta T cell differentiation1224.7×0.037SOCS1
lateral motor column neuron migration1224.7×0.037DAB1
cell surface receptor signaling pathway via JAK-STAT223.2×0.037SOCS1, DAB1
spermatogenesis45.6×0.040TNP2, PRM3, PRM1, PRM2
radial glia-guided pyramidal neuron migration1168.5×0.043DAB1
androgen catabolic process1134.8×0.048HSD17B11
myoblast fate commitment1134.8×0.048PITX1
L-methionine metabolic process1112.3×0.048MSRA
protein repair1112.3×0.048MSRA
positive regulation of CD4-positive, alpha-beta T cell differentiation1112.3×0.048SOCS1
tetrahydrobiopterin biosynthetic process196.3×0.048PCBD2
adenosine metabolic process196.3×0.048NT5C1B
mammary gland duct morphogenesis196.3×0.048PERP
muscle organ development213.3×0.048SMTN, CHODL
desmosome organization184.3×0.049PERP
Golgi localization184.3×0.049DAB1
positive regulation of T cell apoptotic process184.3×0.049PERP
cAMP catabolic process174.9×0.050PDE8A
ganglioside catabolic process174.9×0.050GM2A

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
AcetylcysteinePhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acipimox, Drospirenone, Erythromycin, Estradiol, Ethinyl Estradiol, Progesterone.

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 2 · Phased (≥1): 4 · Undrugged: 26

Druggability breadth: 7 of 30 evidence-associated genes (23%) 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
PDE8ASILDENAFIL

Top cohort targets by molecule count

SymbolMoleculesMax phase
PDE8A44
HSD17B1313
HSD17B1112
AFF112
SMTN00
TNP200
PRM300
PERP00
CHODL00
NT5C1B00

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
SILDENAFIL4PDE8A
DIPYRIDAMOLE4PDE8A
CILOFEXOR3HSD17B13
MOLIBRESIB2AFF1, HSD17B11
JNJ-423963021PDE8A
LENRISPODUN PHOSPHATE1PDE8A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

SymbolAssaysType breakdown
PDE8A137Binding:129, ADMET:6, Functional:2
HSD17B1322Binding:20, Functional:2
TMPRSS1518Binding:17, Functional:1
HSD17B1110Binding:9, Functional:1
AFF18Binding:8
MAGI34Binding:4
CDV31Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
PCBD24.2.1.964a-hydroxytetrahydrobiopterin dehydratase
MSRA1.8.4.11peptide-methionine (S)-S-oxide reductase
PDE8A3.1.4.533’,5’-cyclic-AMP phosphodiesterase
TMPRSS153.4.21.9enteropeptidase

Cohort genes with high screening signal

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

SymbolChEMBL assays
PDE8A137

Pharmacogenomics

Cohort genes with a PharmGKB record: 30; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

6 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)
SILDENAFIL4PDE8A
DIPYRIDAMOLE4PDE8A
CILOFEXOR3HSD17B13
MOLIBRESIB2AFF1, HSD17B11
JNJ-423963021PDE8A
LENRISPODUN PHOSPHATE1PDE8A

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PDE8A
BPhased (≥1) drug, not yet approved3HSD17B13, HSD17B11, AFF1
CDruggable family + PDB, no drug3PCBD2, MAGI3, TMPRSS15
DDruggable family + AlphaFold only, no drug3CATSPER3, VSTM2B, MSRA
EDifficult family or no structure, no drug20SMTN, TNP2, PRM3, PERP, CHODL, NT5C1B, KLHL8, SOCS1, COL23A1, CCDC69 (+10 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
SMTN0—
TNP20—
PRM30—
PERP0—
CHODL0—
NT5C1B0—
KLHL80—
SOCS10—
CATSPER30—
COL23A10—
PCBD20—
CCDC690—
DAB10—
NKAIN30—
CDV31—
C4orf360—
MAGI34—
VSTM2B0—
GM2A0—
MSRA0—
PHTF10—
PITX10—
OLIG20—
PRM10—
PRM20—
TMPRSS1518—

Clinical trials & evidence

Clinical trials

Clinical trials: 150.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified131
PHASE27
PHASE14
PHASE42
PHASE32
PHASE2/PHASE32
PHASE1/PHASE21
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00988481PHASE4WITHDRAWNTopiramate Augmentation in Bulimia Nervosa Partial Responders
NCT02359513PHASE4COMPLETEDEvaluation of the Efficacy of Serotoninergic Antidepressants in Bulimia Nervosa, According to Brain Serotonin Profile Determined by Positron Emission Tomography With [18F] MPPF.
NCT00220662PHASE3UNKNOWNThe Efficacy of Readiness and Motivation Therapy in Individuals With Anorexia Nervosa and Bulimia Nervosa
NCT01033149PHASE3TERMINATEDN-acetylcysteine in the Treatment of Bulimia Nervosa
NCT01693237PHASE2/PHASE3UNKNOWNImproving Patient Outcome in Group Therapy for Eating Disorders
NCT05073679PHASE2/PHASE3TERMINATEDOral Naltrexone In Pediatric Eating Disorders
NCT03338387PHASE2ENROLLING_BY_INVITATIONCo-Feedback Action of Growth Hormone, PP and PYY on Ghrelin in Bulimia
NCT00304187PHASE2COMPLETEDEffectiveness of Antibiotic Treatment for Reducing Binge Eating and Improving Digestive Function in Bulimia Nervosa
NCT00518843PHASE2COMPLETEDFamily Therapy for Adolescent Bulimia Nervosa
NCT00522769PHASE1/PHASE2COMPLETEDCognitive Behavioral Therapy to Treat Bulimia Nervosa in Adolescents
NCT00600743PHASE2TERMINATEDEffect of a CCK-1R Agonist on Food Intake in Humans
NCT03397446PHASE2TERMINATEDLisdexamfetamine for Adults With Bulimia Nervosa
NCT04225221PHASE2COMPLETEDNeurobiology of Bulimia Nervosa
NCT04278755PHASE2TERMINATEDBinge Eating & Birth Control
NCT07542145PHASE1NOT_YET_RECRUITINGMDMA Assisted Therapy for BN
NCT02399982PHASE1COMPLETEDSmartphone Technology and CBT-GSH in Binge Eaters
NCT02553824PHASE1COMPLETEDFDA Approved Medication to Reduce Binge Eating and/or Purging
NCT04409704PHASE1COMPLETEDRepetitive Transcranial Magnetic Stimulation of the DMPFC for Anorexia and Bulimia: an Open-Label Case Series
NCT05509257EARLY_PHASE1RECRUITINGNaltrexone Neuroimaging in Teens With Eating Disorders
NCT03224091Not specifiedRECRUITINGPROspective Longitudinal All-comer Inclusion Study in Eating Disorders
NCT03393039Not specifiedACTIVE_NOT_RECRUITINGEffects of Negative Affect in Individuals With Binge Eating Episodes
NCT03808467Not specifiedACTIVE_NOT_RECRUITINGCognitive Training for Patients With Eating Disorders
NCT04127214Not specifiedACTIVE_NOT_RECRUITINGThe ITA Model of Integrated Treatment of Eating Disorders
NCT04174703Not specifiedENROLLING_BY_INVITATIONPreparing for Eating Disorders Treatment Through Compassionate Letter-Writing
NCT04806620Not specifiedRECRUITINGUnhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
NCT04917068Not specifiedRECRUITINGNeurobiological and Psychological Maintenance Mechanisms Associated With Anticipatory Reward in Bulimia Nervosa
NCT05056597Not specifiedRECRUITINGIncentive Processing and Learning in Anorexia Nervosa and Bulimia Nervosa
NCT05304104Not specifiedRECRUITINGBuilding an Equitable and Accessible System of Eating Disorder Care for VA, DoD, and Underrepresented Americans
NCT05507008Not specifiedACTIVE_NOT_RECRUITINGKetone Supplementation in Eating Disorders
NCT05614024Not specifiedRECRUITINGNeurofeedback During Eating for Bulimia Nervosa
NCT05724394Not specifiedACTIVE_NOT_RECRUITINGFeasibility Trial of Getting Better Bite by Bite for Eating Disorders
NCT05812950Not specifiedRECRUITINGClinical and Cost-effectiveness of Group Schema Therapy for Complex Eating Disorders: the GST-EAT Study
NCT05862389Not specifiedRECRUITINGStudy on the Mechanism of Eating Disorder
NCT05879679Not specifiedRECRUITINGPilot Study on the Validity of the Metacognitive Hub Model of Craving in Bulimia Nervosa (BN) and Binge Eating Disorders (BED)
NCT05937243Not specifiedACTIVE_NOT_RECRUITINGIdentifying Effective Technological-based Augmentations to Enhance Outcomes From Self-help Cognitive Behavior Therapy for Binge Eating
NCT05995496Not specifiedRECRUITINGChanges in Inhibition and Valuation After Eating
NCT06000774Not specifiedRECRUITINGTherapeutic Ketogenic Diet in Anorexia Nervosa
NCT06198023Not specifiedRECRUITINGTargeting Social Function in Anxiety and Eating Disorders
NCT06226233Not specifiedACTIVE_NOT_RECRUITINGEfficacy of Juniver, a Digital Self-help Intervention, on Symptoms of Eating Disorders: A Randomised Controlled Trial
NCT06345040Not specifiedRECRUITINGThe Dialogue Study: A Virtual-reality Based Treatment for Eating Disorders

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
PHENTERMINE43
PRAZOSIN43
TOPIRAMATE42
ACETYLCYSTEINE41
ACIPIMOX41
BACLOFEN41
ERYTHROMYCIN41
LISDEXAMFETAMINE DIMESYLATE41
METYROSINE41
COCOA31
DELORAZEPAM21
CHEMBL543550001
CHEMBL123313401

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 73

This page pulls from 73 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmicd11intactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot