Lipase deficiency, combined

Summary

Lipase deficiency, combined (MONDO:0009527) is a disease caused by LMF1 (GenCC Strong), with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: LMF1 (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 40

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	lipase deficiency, combined
Mondo ID	MONDO:0009527
MeSH	C535904
OMIM	246650
Orphanet	535453
DOID	DOID:0111422
NCIT	C126558
UMLS	C1855498
MedGen	340886
GARD	0010244
Is cancer (heuristic)	no

Also known as: combined lipase deficiency · familial lipase maturation factor 1 deficiency · lipase deficiency combined · lipase deficiency, combined

Data availability: 40 ClinVar variants · 5 GenCC gene-disease records · 2 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › lipase deficiency, combined

Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, Schöpf-Schulz-Passarge syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, autosomal recessive omodysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, immunodeficiency 31B, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, nephropathic cystinosis, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 2, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy

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

40 retrieved; paginated sample, class counts are floors:

13 uncertain significance, 9 conflicting classifications of pathogenicity, 6 benign/likely benign, 5 pathogenic, 4 pathogenic/likely pathogenic, 2 likely pathogenic, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1074820	NM_022773.4(LMF1):c.359C>G (p.Ser120Ter)	LMF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1334397	NM_022773.4(LMF1):c.1079-2A>C	LMF1	Pathogenic	criteria provided, single submitter
1341517	NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)	LMF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
143993	NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)	LMF1	Pathogenic	criteria provided, multiple submitters, no conflicts
1675593	NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)	LMF1	Pathogenic	criteria provided, multiple submitters, no conflicts
1677881	NM_022773.4(LMF1):c.697C>T (p.Arg233Ter)	LMF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2961040	NM_022773.4(LMF1):c.244_245del (p.Arg82fs)	LMF1	Pathogenic	criteria provided, multiple submitters, no conflicts
792	NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter)	LMF1	Pathogenic	criteria provided, single submitter
1030690	NM_000237.3(LPL):c.991A>G (p.Lys331Glu)	LPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1399714	NM_022773.4(LMF1):c.514G>A (p.Gly172Arg)	LMF1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2910386	NM_022773.4(LMF1):c.410C>T (p.Ser137Leu)	LMF1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1028778	NM_022773.4(LMF1):c.1138G>A (p.Val380Met)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1090695	NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1677500	NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1742994	NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1765506	NM_022773.4(LMF1):c.901G>A (p.Val301Ile)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2051089	NM_022773.4(LMF1):c.718T>C (p.Phe240Leu)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2584630	NM_022773.4(LMF1):c.514+2452G>A	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2634249	NM_022773.4(LMF1):c.514+254G>A	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
753950	NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)	LMF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1028777	NM_022773.4(LMF1):c.1039C>G (p.Gln347Glu)	LMF1	Uncertain significance	criteria provided, single submitter
1254599	NM_022773.4(LMF1):c.683G>A (p.Gly228Glu)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1355882	NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1445693	NM_022773.4(LMF1):c.1406C>T (p.Ala469Val)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1745544	NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1769832	NM_022773.4(LMF1):c.1318G>A (p.Glu440Lys)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1803820	NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1803830	NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys)	LMF1	Uncertain significance	criteria provided, single submitter
1803841	NM_022773.4(LMF1):c.602C>T (p.Pro201Leu)	LMF1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1803852	NM_022773.4(LMF1):c.57G>C (p.Lys19Asn)	LMF1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 2 · 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.

Gene	Classification	Inheritance	Disease	Records
LMF1	Strong	Autosomal recessive	lipase deficiency, combined	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
LMF1	Orphanet:535453	Familial lipase maturation factor 1 deficiency
LPL	Orphanet:309015	Familial lipoprotein lipase deficiency

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
LMF1	HGNC:14154	ENSG00000103227	Q96S06	Lipase maturation factor 1	gencc,clinvar
LPL	HGNC:6677	ENSG00000175445	P06858	Lipoprotein lipase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LMF1	Lipase maturation factor 1	Involved in the maturation of specific proteins in the endoplasmic reticulum.
LPL	Lipoprotein lipase	Key enzyme in triglyceride metabolism.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

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.

Family	Genes	Fold	FDR
Enzyme (other)	1	6.0×	0.320
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
LMF1	Other/Unknown	no		LMF, LMF1/2_C, LMF1/2_N
LPL	Enzyme (other)	yes	3.1.1.34	TAG_lipase, PLAT/LH2_dom, Lipo_Lipase

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
C1 segment of cervical spinal cord	1
right uterine tube	1
sural nerve	1
dorsal root ganglion	1
olfactory bulb	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LMF1	276	ubiquitous	marker	right uterine tube, C1 segment of cervical spinal cord, sural nerve
LPL	272	broad	marker	olfactory bulb, trigeminal ganglion, dorsal root ganglion

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LPL	2,149
LMF1	718

Intra-cohort edges

A	B	Sources
LMF1	LPL	string_interaction

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
LPL	P06858	5

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LMF1	Q96S06	90.49

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 20. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Assembly of active LPL and LIPC lipase complexes	2	601.0×	4e-05	LMF1, LPL
Plasma lipoprotein remodeling	2	475.8×	4e-05	LMF1, LPL
Plasma lipoprotein assembly, remodeling, and clearance	2	228.4×	1e-04	LMF1, LPL
Chylomicron remodeling	1	571.0×	0.007	LPL
Transport of small molecules	2	25.1×	0.007	LMF1, LPL
Metabolism of fat-soluble vitamins	1	190.3×	0.017	LPL
Visual phototransduction	1	129.8×	0.020	LPL
Retinoid metabolism and transport	1	124.1×	0.020	LPL
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1	107.7×	0.020	LPL
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	1	98.5×	0.020	LPL
Adipogenesis	1	78.2×	0.022	LPL
Epigenetic regulation by WDR5-containing histone modifying complexes	1	77.2×	0.022	LPL
Transcriptional regulation of white adipocyte differentiation	1	64.9×	0.024	LPL
Metabolism of vitamins and cofactors	1	58.3×	0.024	LPL
Sensory Perception	1	47.6×	0.028	LPL
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	1	41.4×	0.030	LPL
Epigenetic regulation of gene expression	1	35.7×	0.033	LPL
Gene expression (Transcription)	1	8.9×	0.121	LPL
Developmental Biology	1	7.2×	0.141	LPL
Metabolism	1	5.8×	0.165	LPL

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
triglyceride metabolic process	2	443.5×	2e-04	LMF1, LPL
low-density lipoprotein particle mediated signaling	1	2808.7×	0.004	LPL
chylomicron remodeling	1	2106.5×	0.004	LPL
very-low-density lipoprotein particle clearance	1	1685.2×	0.004	LPL
chylomicron remnant clearance	1	1404.3×	0.004	LMF1
positive regulation of cholesterol storage	1	1203.7×	0.004	LPL
cellular response to nutrient	1	1053.2×	0.004	LPL
very-low-density lipoprotein particle remodeling	1	1053.2×	0.004	LPL
regulation of triglyceride metabolic process	1	1053.2×	0.004	LMF1
positive regulation of chemokine (C-X-C motif) ligand 2 production	1	766.0×	0.004	LPL
positive regulation of lipid storage	1	702.2×	0.004	LPL
regulation of cholesterol metabolic process	1	561.7×	0.005	LMF1
positive regulation of adipose tissue development	1	526.6×	0.005	LPL
positive regulation of macrophage derived foam cell differentiation	1	421.3×	0.005	LPL
triglyceride catabolic process	1	401.2×	0.005	LPL
high-density lipoprotein particle remodeling	1	401.2×	0.005	LPL
cellular response to fatty acid	1	351.1×	0.006	LPL
retinoid metabolic process	1	247.8×	0.007	LPL
triglyceride homeostasis	1	240.7×	0.007	LPL
positive regulation of chemokine production	1	187.2×	0.009	LPL
fatty acid biosynthetic process	1	175.5×	0.009	LPL
phospholipid metabolic process	1	172.0×	0.009	LPL
positive regulation of fat cell differentiation	1	150.5×	0.010	LPL
protein secretion	1	131.7×	0.010	LMF1
positive regulation of interleukin-1 beta production	1	129.6×	0.010	LPL
response to glucose	1	127.7×	0.010	LPL
fatty acid metabolic process	1	96.8×	0.013	LPL
response to bacterium	1	96.8×	0.013	LPL
positive regulation of interleukin-6 production	1	83.4×	0.014	LPL
protein maturation	1	81.8×	0.014	LMF1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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.

Symbol	Example approved molecule
LPL	ORLISTAT

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LPL	1	4
LMF1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
ORLISTAT	4	LPL

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
LPL	16	Binding:16

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
LPL	3.1.1.34	lipoprotein lipase

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

1 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.

Compound	Max phase	Cohort target (bioactivity)
ORLISTAT	4	LPL

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	LPL
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	LMF1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
LMF1	0	LPL

Clinical trials & evidence

Clinical trials

Clinical trials: 0.