Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
diseaseOn this page
Also known as KOGSKosaki overgrowth syndrome
Summary
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome (MONDO:0014704) is a disease caused by PDGFRB (GenCC Definitive), with 1 cohort gene and 1 clinical trial.
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Causal gene: PDGFRB (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 469
- Clinical trials: 1
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 | skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome |
| Mondo ID | MONDO:0014704 |
| OMIM | 616592 |
| Orphanet | 477831 |
| UMLS | C4225270 |
| MedGen | 896409 |
| GARD | 0017860 |
| Is cancer (heuristic) | no |
Also known as: KOGS · Kosaki overgrowth syndrome
Data availability: 469 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › skeletal dysplasia › skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Related subtypes (118): osteochondrodysplasia, diaphyseal medullary stenosis-bone malignancy syndrome, fibular aplasia-ectrodactyly syndrome, cerebrocostomandibular syndrome, cleidorhizomelic syndrome, dyschondrosteosis-nephritis syndrome, dysplasia epiphysealis hemimelica, carpotarsal osteochondromatosis, Camurati-Engelmann disease, genochondromatosis, autosomal dominant osteosclerosis, Worth type, coxopodopatellar syndrome, Lenz-Majewski hyperostotic dwarfism, delayed membranous cranial ossification, metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, oculodentodigital dysplasia, Ollier disease, osteoglophonic dysplasia, parietal foramina with cleidocranial dysplasia, chondromalacia patellae, Currarino triad, Proteus syndrome, brachydactyly-elbow wrist dysplasia syndrome, tricho-dento-osseous syndrome, bird headed-dwarfism, Montreal type, Yunis-Varon syndrome, split hand-foot malformation 1 with sensorineural hearing loss, ghosal hematodiaphyseal dysplasia, hyperostosis corticalis generalisata, Larsen-like syndrome, B3GAT3 type, mesomelic dwarfism-cleft palate-camptodactyly syndrome, metaphyseal acroscyphodysplasia, metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, familial osteodysplasia, Anderson type, pseudodiastrophic dysplasia, rhizomelic syndrome, Urbach type, Richieri Costa-Pereira syndrome, craniometadiaphyseal dysplasia, wormian bone type, Weaver syndrome, SHOX-related short stature, craniofrontonasal syndrome, Eiken syndrome, 2q37 microdeletion syndrome, skeletal dysplasia-epilepsy-short stature syndrome, rhizomelic dysplasia, Patterson-Lowry type, pelvic dysplasia-arthrogryposis of lower limbs syndrome, Marshall-Smith syndrome, baby rattle pelvis dysplasia, metaphyseal dysplasia, Braun-Tinschert type, genitopatellar syndrome, osteofibrous dysplasia, Larsen-like osseous dysplasia-short stature syndrome, pancreatic insufficiency-anemia-hyperostosis syndrome, microcephalic primordial dwarfism due to ZNF335 deficiency, Hartsfield-Bixler-Demyer syndrome, colobomatous microphthalmia-rhizomelic dysplasia syndrome, Tatton-Brown-Rahman overgrowth syndrome, tall stature-scoliosis-macrodactyly of the great toes syndrome, Catel-Manzke syndrome, cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, complex lethal osteochondrodysplasia, amniotic band syndrome, metaphyseal anadysplasia, syndromic craniosynostosis, thin ribs-tubular bones-dysmorphism syndrome, dysplasia of head of femur, Meyer type, epimetaphyseal skeletal dysplasia, melorheostosis with osteopoikilosis, Cole-Carpenter syndrome, spondylometaphyseal dysplasia, omodysplasia, Bruck syndrome, osteopetrosis, congenital absence of upper arm and forearm with hand present, congenital absence of thigh and lower leg with foot present, congenital absence of both forearm and hand, congenital absence of both lower leg and foot, acheiria, apodia, chondroectodermal dysplasia with night blindness, TRPV4-related bone disorder, adactyly of foot, short stature-advanced bone age-early-onset osteoarthritis syndrome, McCune-Albright syndrome, parietal foramina, Sotos syndrome, dysspondyloenchondromatosis, autosomal recessive cutis laxa type 2, FGFR3-related chondrodysplasia, filamin-related bone disorder, short rib dysplasia, spondylodysplastic dysplasia, acromelic dysplasia, bent bone dysplasia, chondrodysplasia punctata, primary osteolysis, non-syndromic limb reduction defect, Robinow syndrome, synpolydactyly, acrocoxomesomelic dysplasia, bone dysplasia Moore type, bone dysplasia corpus callosum agenesis, type 2 collagenopathy, LRP5-related primary osteoporosis, SLC26A2-related skeletal dysplasia, COMP-related skeletal dysplasia, primordial dwarfism and slender bone disorder, polydactyly-syndactyly-triphalangism, lysosomal storage disease with skeletal involvement, abnormal mineralization disorder, calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, de la Chapelle dysplasia, mesomelic dysplasia-digital anomalies-intellectual disability syndrome, proximal femoral focal deficiency, rhizomelic dysplasia, Ain-Naz type, craniotubular dysplasia, Ikegawa type, TRIP11-related skeletal dysplasia, FAM111A-related skeletal dysplasia
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
469 retrieved; paginated sample, class counts are floors:
202 likely benign, 134 uncertain significance, 59 benign, 40 conflicting classifications of pathogenicity, 25 benign/likely benign, 4 pathogenic, 3 likely pathogenic, 2 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 208692 | NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) | PDGFRB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2096300 | NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu) | PDGFRB | Pathogenic | criteria provided, single submitter |
| 217122 | NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) | PDGFRB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2925384 | NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu) | PDGFRB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 375682 | NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) | PDGFRB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 55848 | NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) | PDGFRB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1333888 | NM_002609.4(PDGFRB):c.1025C>T (p.Ala342Val) | PDGFRB | Likely pathogenic | criteria provided, single submitter |
| 3773730 | NM_002609.4(PDGFRB):c.2567A>T (p.Asn856Ile) | PDGFRB | Likely pathogenic | criteria provided, single submitter |
| 4794434 | NM_002609.4(PDGFRB):c.1A>G (p.Met1Val) | PDGFRB | Likely pathogenic | criteria provided, single submitter |
| 1304805 | NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 135650 | NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1486244 | NM_002609.4(PDGFRB):c.2905-8G>A | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1518353 | NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 194497 | NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1946074 | NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1960043 | NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1961685 | NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1975317 | NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2042019 | NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2054278 | NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2056802 | NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2065779 | NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2144767 | NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2146418 | NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2151826 | NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2178345 | NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2190056 | NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2228308 | NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2262363 | NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2367685 | NM_002609.4(PDGFRB):c.1106C>T (p.Thr369Met) | PDGFRB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 17 · Orphanet: 7 · 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 |
|---|---|---|---|---|
| PDGFRB | Definitive | Autosomal dominant | acroosteolysis-keloid-like lesions-premature aging syndrome | 17 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| PDGFRB | Orphanet:168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
| PDGFRB | Orphanet:1980 | Bilateral striopallidodentate calcinosis |
| PDGFRB | Orphanet:2591 | Infantile myofibromatosis |
| PDGFRB | Orphanet:314950 | Primary hypereosinophilic syndrome |
| PDGFRB | Orphanet:363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome |
| PDGFRB | Orphanet:477831 | Kosaki overgrowth syndrome |
| PDGFRB | Orphanet:86830 | Chronic myeloproliferative disease, unclassifiable |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| PDGFRB | HGNC:8804 | ENSG00000113721 | P09619 | Platelet-derived growth factor receptor beta | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| PDGFRB | Platelet-derived growth factor receptor beta | Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, surviv… |
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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Kinase | 1 | 27.7× | 0.036 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| PDGFRB | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
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)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| endocervix | 1 |
| right coronary artery | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| PDGFRB | 270 | ubiquitous | marker | stromal cell of endometrium, right coronary artery, endocervix |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| PDGFRB | 5,111 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PDGFRB | P09619 | 8 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 6. 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.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Downstream signal transduction | 1 | 380.7× | 0.012 | PDGFRB |
| Signaling by PDGF | 1 | 253.8× | 0.012 | PDGFRB |
| Constitutive Signaling by Aberrant PI3K in Cancer | 1 | 126.9× | 0.015 | PDGFRB |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 1 | 96.8× | 0.015 | PDGFRB |
| PIP3 activates AKT signaling | 1 | 66.8× | 0.016 | PDGFRB |
| RAF/MAP kinase cascade | 1 | 61.1× | 0.016 | PDGFRB |
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 term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cell migration involved in coronary angiogenesis | 1 | 16852.0× | 8e-04 | PDGFRB |
| metanephric glomerular mesangial cell proliferation involved in metanephros development | 1 | 16852.0× | 8e-04 | PDGFRB |
| cell migration involved in vasculogenesis | 1 | 8426.0× | 8e-04 | PDGFRB |
| smooth muscle cell chemotaxis | 1 | 8426.0× | 8e-04 | PDGFRB |
| positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | 1 | 5617.3× | 8e-04 | PDGFRB |
| positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 1 | 5617.3× | 8e-04 | PDGFRB |
| metanephric glomerular capillary formation | 1 | 5617.3× | 8e-04 | PDGFRB |
| smooth muscle adaptation | 1 | 4213.0× | 1e-03 | PDGFRB |
| platelet-derived growth factor receptor-beta signaling pathway | 1 | 3370.4× | 0.001 | PDGFRB |
| retina vasculature development in camera-type eye | 1 | 1685.2× | 0.002 | PDGFRB |
| cardiac myofibril assembly | 1 | 1296.3× | 0.002 | PDGFRB |
| positive regulation of DNA biosynthetic process | 1 | 1123.5× | 0.002 | PDGFRB |
| positive regulation of smooth muscle cell migration | 1 | 991.3× | 0.002 | PDGFRB |
| positive regulation of calcium ion import | 1 | 936.2× | 0.002 | PDGFRB |
| aorta morphogenesis | 1 | 887.0× | 0.002 | PDGFRB |
| positive regulation of chemotaxis | 1 | 842.6× | 0.002 | PDGFRB |
| positive regulation of MAP kinase activity | 1 | 648.1× | 0.003 | PDGFRB |
| platelet-derived growth factor receptor signaling pathway | 1 | 561.7× | 0.003 | PDGFRB |
| positive regulation of mitotic nuclear division | 1 | 543.6× | 0.003 | PDGFRB |
| positive regulation of reactive oxygen species metabolic process | 1 | 510.7× | 0.003 | PDGFRB |
| peptidyl-tyrosine phosphorylation | 1 | 421.3× | 0.004 | PDGFRB |
| positive regulation of calcium-mediated signaling | 1 | 421.3× | 0.004 | PDGFRB |
| positive regulation of smooth muscle cell proliferation | 1 | 330.4× | 0.004 | PDGFRB |
| cell chemotaxis | 1 | 185.2× | 0.007 | PDGFRB |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 | 173.7× | 0.008 | PDGFRB |
| regulation of actin cytoskeleton organization | 1 | 157.5× | 0.008 | PDGFRB |
| protein autophosphorylation | 1 | 145.3× | 0.008 | PDGFRB |
| positive regulation of ERK1 and ERK2 cascade | 1 | 85.1× | 0.014 | PDGFRB |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 | 78.4× | 0.015 | PDGFRB |
| angiogenesis | 1 | 62.4× | 0.017 | PDGFRB |
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.
| Symbol | Example approved molecule |
|---|---|
| PDGFRB | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PDGFRB | 102 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| PONATINIB | 4 | PDGFRB |
| FEDRATINIB | 4 | PDGFRB |
| TIVOZANIB | 4 | PDGFRB |
| LENVATINIB | 4 | PDGFRB |
| AXITINIB | 4 | PDGFRB |
| SORAFENIB | 4 | PDGFRB |
| SUNITINIB MALATE | 4 | PDGFRB |
| REGORAFENIB | 4 | PDGFRB |
| PACRITINIB | 4 | PDGFRB |
| VANDETANIB | 4 | PDGFRB |
| NILOTINIB | 4 | PDGFRB |
| BOSUTINIB | 4 | PDGFRB |
| NINTEDANIB ESYLATE | 4 | PDGFRB |
| GILTERITINIB | 4 | PDGFRB |
| TOVORAFENIB | 4 | PDGFRB |
| PEXIDARTINIB | 4 | PDGFRB |
| PAZOPANIB | 4 | PDGFRB |
| NINTEDANIB | 4 | PDGFRB |
| SUNITINIB | 4 | PDGFRB |
| DASATINIB | 4 | PDGFRB |
| ERLOTINIB | 4 | PDGFRB |
| LAPATINIB | 4 | PDGFRB |
| QUIZARTINIB | 4 | PDGFRB |
| MIDOSTAURIN | 4 | PDGFRB |
| IMATINIB | 4 | PDGFRB |
| VATALANIB | 3 | PDGFRB |
| FAMITINIB | 3 | PDGFRB |
| MASITINIB | 3 | PDGFRB |
| CRENOLANIB | 3 | PDGFRB |
| SARACATINIB | 3 | PDGFRB |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PDGFRB | 1,237 | Binding:1213, Functional:16, ADMET:8 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| PDGFRB | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| PDGFRB | 1,237 |
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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| PONATINIB | 4 | PDGFRB |
| FEDRATINIB | 4 | PDGFRB |
| TIVOZANIB | 4 | PDGFRB |
| LENVATINIB | 4 | PDGFRB |
| AXITINIB | 4 | PDGFRB |
| SORAFENIB | 4 | PDGFRB |
| SUNITINIB MALATE | 4 | PDGFRB |
| REGORAFENIB | 4 | PDGFRB |
| PACRITINIB | 4 | PDGFRB |
| VANDETANIB | 4 | PDGFRB |
| NILOTINIB | 4 | PDGFRB |
| BOSUTINIB | 4 | PDGFRB |
| NINTEDANIB ESYLATE | 4 | PDGFRB |
| GILTERITINIB | 4 | PDGFRB |
| TOVORAFENIB | 4 | PDGFRB |
| PEXIDARTINIB | 4 | PDGFRB |
| PAZOPANIB | 4 | PDGFRB |
| NINTEDANIB | 4 | PDGFRB |
| SUNITINIB | 4 | PDGFRB |
| DASATINIB | 4 | PDGFRB |
| ERLOTINIB | 4 | PDGFRB |
| LAPATINIB | 4 | PDGFRB |
| QUIZARTINIB | 4 | PDGFRB |
| MIDOSTAURIN | 4 | PDGFRB |
| IMATINIB | 4 | PDGFRB |
| VATALANIB | 3 | PDGFRB |
| FAMITINIB | 3 | PDGFRB |
| MASITINIB | 3 | PDGFRB |
| CRENOLANIB | 3 | PDGFRB |
| SARACATINIB | 3 | PDGFRB |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | PDGFRB |
| 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 | 0 |
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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05953857 | Not specified | NOT_YET_RECRUITING | Knowing and Treating Kosaki/Penttinen Syndromes |
Related Atlas pages
- Cohort genes: PDGFRB