Capillary infantile hemangioma
disease diseaseOn this page
Also known as HCIhemangioma, capillary infantilehemangioma, capillary infantile, somatichemangioma, hereditary capillaryhereditary capillary infantile hemangioma
Summary
Capillary infantile hemangioma (MONDO:0011191) is a disease caused by FLT4 (GenCC Strong), with 6 cohort genes and 1 clinical trial.
At a glance
- Causal gene: FLT4 (GenCC Strong)
- Cohort genes: 6
- ClinVar variants: 30
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | capillary infantile hemangioma |
| Mondo ID | MONDO:0011191 |
| MeSH | C535860 |
| OMIM | 602089 |
| Orphanet | 464293, 91415 |
| NCIT | C6645 |
| UMLS | C1865871 |
| MedGen | 355573 |
| Is cancer (heuristic) | no |
Also known as: HCI · hemangioma, capillary infantile · hemangioma, capillary infantile, somatic · hemangioma, hereditary capillary · hereditary capillary infantile hemangioma
Data availability: 30 ClinVar variants · 2 GenCC gene-disease records.
Disease family
Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign blood vessel neoplasm › hemangioma › capillary hemangioma › capillary infantile hemangioma
Related subtypes (5): cherry hemangioma, breast capillary hemangioma, hemangioblastoma, eyelid capillary hemangioma, pyogenic granuloma
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
30 retrieved; paginated sample, class counts are floors:
19 uncertain significance, 3 benign, 2 pathogenic, 2 likely benign, 1 benign/likely benign, 1 risk factor, 1 conflicting classifications of pathogenicity, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1691335 | NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) | CCNH | Pathogenic | criteria provided, single submitter |
| 12317 | NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) | KDR | Pathogenic | no assertion criteria provided |
| 932061 | NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) | FLT4 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4390 | NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) | ANTXR1 | risk factor | no assertion criteria provided |
| 445474 | NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) | ANTXR1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1691351 | NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) | FAT4 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1691352 | NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) | FAT4 | Uncertain significance | criteria provided, single submitter |
| 2501818 | NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln) | FLT4 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3279267 | NM_182925.5(FLT4):c.3778A>C (p.Met1260Leu) | FLT4 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3592190 | NM_182925.5(FLT4):c.3712G>A (p.Gly1238Arg) | FLT4 | Uncertain significance | criteria provided, single submitter |
| 3592191 | NM_182925.5(FLT4):c.1109A>G (p.Lys370Arg) | FLT4 | Uncertain significance | criteria provided, single submitter |
| 3892328 | NM_182925.5(FLT4):c.200C>T (p.Ala67Val) | FLT4 | Uncertain significance | criteria provided, single submitter |
| 1710210 | NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe) | KDR | Uncertain significance | criteria provided, single submitter |
| 2348108 | NM_002253.4(KDR):c.2270C>G (p.Ala757Gly) | KDR | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2672213 | NM_002253.4(KDR):c.1136C>T (p.Ala379Val) | KDR | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2672215 | NM_002253.4(KDR):c.3663T>C (p.Ser1221=) | KDR | Uncertain significance | criteria provided, single submitter |
| 3113923 | NM_002253.4(KDR):c.1247T>C (p.Val416Ala) | KDR | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3237450 | NM_002253.4(KDR):c.1616G>A (p.Gly539Glu) | KDR | Uncertain significance | criteria provided, single submitter |
| 3891470 | NM_002253.4(KDR):c.1259C>T (p.Pro420Leu) | KDR | Uncertain significance | criteria provided, single submitter |
| 3891471 | NM_002253.4(KDR):c.1567A>C (p.Asn523His) | KDR | Uncertain significance | criteria provided, single submitter |
| 3891472 | NM_002253.4(KDR):c.2381G>A (p.Gly794Glu) | KDR | Uncertain significance | criteria provided, single submitter |
| 3891473 | NM_002253.4(KDR):c.3193G>A (p.Ala1065Thr) | KDR | Uncertain significance | criteria provided, single submitter |
| 3891475 | NM_002253.4(KDR):c.953A>T (p.Asn318Ile) | KDR | Uncertain significance | criteria provided, single submitter |
| 545478 | NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) | MYH9 | Uncertain significance | criteria provided, single submitter |
| 262019 | NM_032208.3(ANTXR1):c.1185+16C>A | ANTXR1 | Benign | criteria provided, multiple submitters, no conflicts |
| 16264 | NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) | FLT4 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
| 12318 | NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) | KDR | Likely benign | criteria provided, multiple submitters, no conflicts |
| 134619 | NM_002253.4(KDR):c.1116G>C (p.Glu372Asp) | KDR | Benign | criteria provided, multiple submitters, no conflicts |
| 518355 | NM_002253.4(KDR):c.3848+15T>C | KDR | Benign | criteria provided, single submitter |
| 623416 | NM_002253.4(KDR):c.2312C>T (p.Thr771Met) | KDR | Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 26 · Orphanet: 9 · 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 |
|---|---|---|---|---|
| FLT4 | Strong | Autosomal dominant | capillary infantile hemangioma | 10 |
| ANTXR1 | Limited | Autosomal dominant | capillary infantile hemangioma | 16 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ANTXR1 | Orphanet:2067 | GAPO syndrome |
| FLT4 | Orphanet:3303 | Tetralogy of Fallot |
| FLT4 | Orphanet:79452 | Milroy disease |
| FAT4 | Orphanet:2136 | Hennekam syndrome |
| FAT4 | Orphanet:314679 | Cerebrofacioarticular syndrome |
| KDR | Orphanet:3303 | Tetralogy of Fallot |
| MYH9 | Orphanet:182050 | MYH9-related syndromic thrombocytopenia |
| MYH9 | Orphanet:477742 | Nodular fasciitis |
| MYH9 | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
Cohort genes → proteins
6 cohort genes, 6 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 6 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| ANTXR1 | HGNC:21014 | ENSG00000169604 | Q9H6X2 | Anthrax toxin receptor 1 | gencc,clinvar |
| FLT4 | HGNC:3767 | ENSG00000037280 | P35916 | Vascular endothelial growth factor receptor 3 | gencc,clinvar |
| CCNH | HGNC:1594 | ENSG00000134480 | P51946 | Cyclin-H | clinvar |
| FAT4 | HGNC:23109 | ENSG00000196159 | Q6V0I7 | Protocadherin Fat 4 | clinvar |
| KDR | HGNC:6307 | ENSG00000128052 | P35968 | Vascular endothelial growth factor receptor 2 | clinvar |
| MYH9 | HGNC:7579 | ENSG00000100345 | P35579 | Myosin-9 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ANTXR1 | Anthrax toxin receptor 1 | Plays a role in cell attachment and migration. |
| FLT4 | Vascular endothelial growth factor receptor 3 | Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic developm… |
| CCNH | Cyclin-H | Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. |
| FAT4 | Protocadherin Fat 4 | Cadherins are calcium-dependent cell adhesion proteins. |
| KDR | Vascular endothelial growth factor receptor 2 | Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. |
| MYH9 | Myosin-9 | Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.33
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 | 2 | 9.2× | 0.053 |
| Scaffold/PPI | 1 | 2.9× | 0.451 |
| Other/Unknown | 3 | 0.9× | 0.758 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| ANTXR1 | Other/Unknown | no | VWF_A, Anthrax_toxin_rcpt_C, Anthrax_toxin_rcpt_extracel | |
| FLT4 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| CCNH | Other/Unknown | no | Cyclin_N, Cyclin-like_dom, CyclinH/Ccl1 | |
| FAT4 | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G | |
| KDR | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| MYH9 | Scaffold/PPI | no | IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail |
Expression context
Cohort genes with no expression data: 0.
6 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) | 6 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| stromal cell of endometrium | 2 |
| calcaneal tendon | 2 |
| decidua | 1 |
| palpebral conjunctiva | 1 |
| left lobe of thyroid gland | 1 |
| right lobe of thyroid gland | 1 |
| thyroid gland | 1 |
| left testis | 1 |
| right testis | 1 |
| blood vessel layer | 1 |
| cortical plate | 1 |
| germinal epithelium of ovary | 1 |
| lower lobe of lung | 1 |
| parietal pleura | 1 |
| ascending aorta | 1 |
| thoracic aorta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ANTXR1 | 270 | ubiquitous | marker | stromal cell of endometrium, decidua, palpebral conjunctiva |
| FLT4 | 172 | broad | marker | right lobe of thyroid gland, left lobe of thyroid gland, thyroid gland |
| CCNH | 297 | ubiquitous | marker | calcaneal tendon, left testis, right testis |
| FAT4 | 231 | ubiquitous | marker | calcaneal tendon, cortical plate, blood vessel layer |
| KDR | 267 | broad | marker | germinal epithelium of ovary, lower lobe of lung, parietal pleura |
| MYH9 | 279 | ubiquitous | marker | stromal cell of endometrium, ascending aorta, thoracic aorta |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYH9 | 5,533 |
| KDR | 4,960 |
| FLT4 | 2,411 |
| CCNH | 2,116 |
| ANTXR1 | 2,039 |
| FAT4 | 1,932 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| ANTXR1 | KDR | string_interaction |
| ANTXR1 | MYH9 | intact |
| FLT4 | KDR | intact, string_interaction |
Structural data
PDB: 6 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| KDR | P35968 | 54 |
| CCNH | P51946 | 47 |
| MYH9 | P35579 | 8 |
| ANTXR1 | Q9H6X2 | 5 |
| FLT4 | P35916 | 2 |
| FAT4 | Q6V0I7 | 2 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 108. Enrichment computed across 6 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| VEGF binds to VEGFR leading to receptor dimerization | 2 | 507.6× | 6e-04 | FLT4, KDR |
| High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells | 2 | 64.3× | 0.020 | FLT4, KDR |
| Neuropilin interactions with VEGF and VEGFR | 1 | 571.0× | 0.043 | KDR |
| Signaling by membrane-tethered fusions of PDGFRA or PDGFRB | 1 | 456.8× | 0.043 | KDR |
| CD163 mediating an anti-inflammatory response | 1 | 228.4× | 0.043 | MYH9 |
| Uptake and function of anthrax toxins | 1 | 190.3× | 0.043 | ANTXR1 |
| Sema4D in semaphorin signaling | 1 | 134.3× | 0.043 | MYH9 |
| RHO GTPases activate CIT | 1 | 120.2× | 0.043 | MYH9 |
| RHO GTPases Activate ROCKs | 1 | 120.2× | 0.043 | MYH9 |
| Sema4D induced cell migration and growth-cone collapse | 1 | 114.2× | 0.043 | MYH9 |
| VEGFR2 mediated cell proliferation | 1 | 114.2× | 0.043 | KDR |
| NOTCH4 Intracellular Domain Regulates Transcription | 1 | 114.2× | 0.043 | FLT4 |
| RHO GTPases activate PAKs | 1 | 108.8× | 0.043 | MYH9 |
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 | 91.4× | 0.043 | CCNH |
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 1 | 81.6× | 0.043 | CCNH |
| RNA Pol II CTD phosphorylation and interaction with CE | 1 | 81.6× | 0.043 | CCNH |
| Semaphorin interactions | 1 | 78.8× | 0.043 | MYH9 |
| G1 Phase | 1 | 78.8× | 0.043 | CCNH |
| Anti-inflammatory response favouring Leishmania parasite infection | 1 | 78.8× | 0.043 | MYH9 |
| Leishmania parasite growth and survival | 1 | 78.8× | 0.043 | MYH9 |
| EPHA-mediated growth cone collapse | 1 | 76.1× | 0.043 | MYH9 |
| mRNA Capping | 1 | 76.1× | 0.043 | CCNH |
| Parasite infection | 1 | 69.2× | 0.043 | MYH9 |
| Leishmania phagocytosis | 1 | 69.2× | 0.043 | MYH9 |
| Formation of the Early Elongation Complex | 1 | 67.2× | 0.043 | CCNH |
| Formation of the HIV-1 Early Elongation Complex | 1 | 67.2× | 0.043 | CCNH |
| HIV Transcription Elongation | 1 | 67.2× | 0.043 | CCNH |
| RNA Polymerase I Transcription Termination | 1 | 65.3× | 0.043 | CCNH |
| RHO GTPases activate PKNs | 1 | 63.4× | 0.043 | MYH9 |
| Cyclin A/B1/B2 associated events during G2/M transition | 1 | 61.7× | 0.043 | CCNH |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| lymph vessel development | 2 | 624.1× | 4e-04 | FLT4, KDR |
| vascular endothelial growth factor signaling pathway | 2 | 351.1× | 7e-04 | FLT4, KDR |
| cellular response to vascular endothelial growth factor stimulus | 2 | 187.2× | 0.002 | FLT4, KDR |
| vascular endothelial growth factor receptor signaling pathway | 2 | 160.5× | 0.002 | FLT4, KDR |
| peptidyl-tyrosine phosphorylation | 2 | 140.4× | 0.002 | FLT4, KDR |
| lung alveolus development | 2 | 117.0× | 0.002 | FLT4, KDR |
| positive regulation of protein phosphorylation | 2 | 92.1× | 0.003 | FLT4, KDR |
| positive regulation of endothelial cell migration | 2 | 83.8× | 0.003 | FLT4, KDR |
| positive regulation of endothelial cell proliferation | 2 | 77.0× | 0.003 | FLT4, KDR |
| positive regulation of nitric oxide-cGMP mediated signal transduction | 1 | 2808.7× | 0.004 | KDR |
| cell surface receptor protein tyrosine kinase signaling pathway | 2 | 57.9× | 0.005 | FLT4, KDR |
| uropod organization | 1 | 1404.3× | 0.005 | MYH9 |
| cortical granule exocytosis | 1 | 1404.3× | 0.005 | MYH9 |
| negative regulation of actin filament severing | 1 | 1404.3× | 0.005 | MYH9 |
| positive regulation of protein processing in phagocytic vesicle | 1 | 1404.3× | 0.005 | MYH9 |
| protein autophosphorylation | 2 | 48.4× | 0.005 | FLT4, KDR |
| cytokinetic process | 1 | 936.2× | 0.006 | MYH9 |
| regulation of blood vessel remodeling | 1 | 936.2× | 0.006 | FLT4 |
| cellular response to hydrogen sulfide | 1 | 936.2× | 0.006 | KDR |
| regulation of plasma membrane repair | 1 | 936.2× | 0.006 | MYH9 |
| regulation of cell shape | 2 | 41.0× | 0.006 | KDR, MYH9 |
| post-embryonic camera-type eye morphogenesis | 1 | 702.2× | 0.007 | KDR |
| establishment of meiotic spindle localization | 1 | 702.2× | 0.007 | MYH9 |
| negative regulation of extracellular matrix assembly | 1 | 702.2× | 0.007 | ANTXR1 |
| endocardium development | 1 | 561.7× | 0.007 | KDR |
| cytoplasmic actin-based contraction involved in cell motility | 1 | 561.7× | 0.007 | MYH9 |
| blood vessel endothelial cell differentiation | 1 | 561.7× | 0.007 | KDR |
| regulation of hematopoietic progenitor cell differentiation | 1 | 561.7× | 0.007 | KDR |
| regulation of bone development | 1 | 561.7× | 0.007 | KDR |
| positive regulation of ERK1 and ERK2 cascade | 2 | 28.4× | 0.008 | FLT4, KDR |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 4 · Undrugged: 2
Druggability breadth: 4 of 6 evidence-associated genes (67%) 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 |
|---|---|
| FLT4 | FEDRATINIB |
| CCNH | ABEMACICLIB |
| KDR | VANDETANIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| KDR | 172 | 4 |
| FLT4 | 72 | 4 |
| CCNH | 28 | 4 |
| MYH9 | 1 | 2 |
| ANTXR1 | 0 | 0 |
| FAT4 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| FEDRATINIB | 4 | FLT4, KDR |
| TIVOZANIB | 4 | FLT4, KDR |
| LENVATINIB | 4 | FLT4, KDR |
| AXITINIB | 4 | FLT4, KDR |
| SORAFENIB | 4 | FLT4, KDR |
| INFIGRATINIB PHOSPHATE | 4 | FLT4, KDR |
| INFIGRATINIB | 4 | FLT4, KDR |
| REGORAFENIB | 4 | FLT4, KDR |
| ENTRECTINIB | 4 | FLT4, KDR |
| CABOZANTINIB | 4 | FLT4, KDR |
| VANDETANIB | 4 | FLT4, KDR |
| NINTEDANIB ESYLATE | 4 | FLT4, KDR |
| FILGOTINIB | 4 | FLT4 |
| BRIGATINIB | 4 | FLT4, KDR |
| FRUQUINTINIB | 4 | FLT4, KDR |
| PAZOPANIB | 4 | FLT4, KDR |
| NINTEDANIB | 4 | FLT4, KDR |
| SUNITINIB | 4 | FLT4, KDR |
| ERLOTINIB | 4 | FLT4, KDR |
| QUIZARTINIB | 4 | CCNH, FLT4, KDR |
| MIDOSTAURIN | 4 | FLT4, KDR |
| GEFITINIB | 4 | FLT4, KDR |
| ABEMACICLIB | 4 | CCNH, KDR |
| ADAGRASIB | 4 | CCNH |
| INDIGOTINDISULFONATE | 4 | KDR |
| PONATINIB | 4 | KDR |
| SORAFENIB TOSYLATE | 4 | KDR |
| PHENYL AMINOSALICYLATE | 4 | KDR |
| VEMURAFENIB | 4 | KDR |
| PIPERAZINE | 4 | KDR |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| KDR | 2,687 | Binding:2594, Functional:64, ADMET:27, Toxicity:2 |
| FLT4 | 717 | Binding:683, Functional:32, ADMET:2 |
| CCNH | 348 | Binding:346, Functional:2 |
| MYH9 | 10 | Binding:10 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| FLT4 | 2.7.10.1 | receptor protein-tyrosine kinase |
| KDR | 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 |
|---|---|
| FLT4 | 717 |
| CCNH | 348 |
| KDR | 2,687 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 6; 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) |
|---|---|---|
| FEDRATINIB | 4 | FLT4, KDR |
| TIVOZANIB | 4 | FLT4, KDR |
| LENVATINIB | 4 | FLT4, KDR |
| AXITINIB | 4 | FLT4, KDR |
| SORAFENIB | 4 | FLT4, KDR |
| INFIGRATINIB PHOSPHATE | 4 | FLT4, KDR |
| INFIGRATINIB | 4 | FLT4, KDR |
| REGORAFENIB | 4 | FLT4, KDR |
| ENTRECTINIB | 4 | FLT4, KDR |
| CABOZANTINIB | 4 | FLT4, KDR |
| VANDETANIB | 4 | FLT4, KDR |
| NINTEDANIB ESYLATE | 4 | FLT4, KDR |
| FILGOTINIB | 4 | FLT4 |
| BRIGATINIB | 4 | FLT4, KDR |
| FRUQUINTINIB | 4 | FLT4, KDR |
| PAZOPANIB | 4 | FLT4, KDR |
| NINTEDANIB | 4 | FLT4, KDR |
| SUNITINIB | 4 | FLT4, KDR |
| ERLOTINIB | 4 | FLT4, KDR |
| QUIZARTINIB | 4 | CCNH, FLT4, KDR |
| MIDOSTAURIN | 4 | FLT4, KDR |
| GEFITINIB | 4 | FLT4, KDR |
| ABEMACICLIB | 4 | CCNH, KDR |
| ADAGRASIB | 4 | CCNH |
| INDIGOTINDISULFONATE | 4 | KDR |
| PONATINIB | 4 | KDR |
| SORAFENIB TOSYLATE | 4 | KDR |
| PHENYL AMINOSALICYLATE | 4 | KDR |
| VEMURAFENIB | 4 | KDR |
| PIPERAZINE | 4 | KDR |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | FLT4, CCNH, KDR |
| B | Phased (≥1) drug, not yet approved | 1 | MYH9 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | ANTXR1, FAT4 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| ANTXR1 | 0 | KDR |
| FAT4 | 0 | — |
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 |
|---|---|---|---|
| NCT03173352 | Not specified | UNKNOWN | A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China |