Hypertrichosis
diseaseOn this page
Also known as hypertrichosis (disease)
Summary
Hypertrichosis (MONDO:0019280) is a disease (an umbrella term covering 11 Mondo subtypes) caused by FGF5 (GenCC Strong), with 7 cohort genes and 11 clinical trials. Top therapeutic interventions include bimatoprost.
At a glance
- Causal gene: FGF5 (GenCC Strong)
- Umbrella term: 11 Mondo subtypes
- Cohort genes: 7
- ClinVar variants: 9
- Clinical trials: 11
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hypertrichosis |
| Mondo ID | MONDO:0019280 |
| MeSH | D006983 |
| Orphanet | 79365 |
| DOID | DOID:420 |
| ICD-11 | 2042627850 |
| SNOMED CT | 29966009 |
| UMLS | C0020555 |
| MedGen | 43787 |
| MedDRA | 10020864 |
| Is cancer (heuristic) | no |
Also known as: hypertrichosis · hypertrichosis (disease)
Data availability: 9 ClinVar variants · 1 GenCC gene-disease record · 1 HPO phenotype.
Disease family
An umbrella term covering 11 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypertrichosis
Related subtypes (8): piedra, hypotrichosis, hair follicle neoplasm, folliculitis, sebaceous gland disorder, hair anomaly, Katsantoni-Papadakou-Lagoyanni syndrome, trichostasis spinulosa
Subtypes (11): hypertrichosis of eyelid, gingival fibromatosis-hypertrichosis syndrome, hypertrichosis cubiti-short stature syndrome, cataract-hypertrichosis-intellectual disability syndrome, cervical hypertrichosis-peripheral neuropathy syndrome, Rabson-Mendenhall syndrome, isolated anterior cervical hypertrichosis, acquired hypertrichosis lanuginosa, hypertrichosis lanuginosa congenita, autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, hypertrichosis-acromegaloid facial appearance syndrome
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
9 retrieved; paginated sample, class counts are floors:
5 pathogenic, 2 likely pathogenic, 1 pathogenic/likely pathogenic, 1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 374179 | NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) | ARID1B | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 30986 | NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) | ASXL1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1047867 | GRCh37/hg19 16p13.3(chr16:3784414-3821324) | CREBBP | Pathogenic | criteria provided, single submitter |
| 1564 | NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) | NAGLU | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 371634 | NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) | NAGLU | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 996741 | NM_012233.3(RAB3GAP1):c.151-5T>G | RAB3GAP1 | Pathogenic | no assertion criteria provided |
| 374133 | NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs) | ARID1B | Likely pathogenic | criteria provided, single submitter |
| 373928 | NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) | KCNJ11 | Likely pathogenic | no assertion criteria provided |
| 523303 | GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3 | ARID1B | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 3 · Orphanet: 24 · 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 |
|---|---|---|---|---|
| FGF5 | Strong | Autosomal recessive | hypertrichosis | 3 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| FGF5 | Orphanet:411788 | Familial isolated trichomegaly |
| RAB3GAP1 | Orphanet:1387 | Cataract-intellectual disability-hypogonadism syndrome |
| RAB3GAP1 | Orphanet:2510 | Micro syndrome |
| ARID1B | Orphanet:1465 | Coffin-Siris syndrome |
| ARID1B | Orphanet:251056 | 6q25.2q25.3 microdeletion syndrome |
| ASXL1 | Orphanet:86845 | Acute myeloid leukaemia with myelodysplasia-related features |
| ASXL1 | Orphanet:97297 | Bohring-Opitz syndrome |
| ASXL1 | Orphanet:98823 | Chronic myelomonocytic leukemia |
| ASXL1 | Orphanet:98849 | Systemic mastocytosis with associated hematologic neoplasm |
| ASXL1 | Orphanet:98850 | Aggressive systemic mastocytosis |
| CREBBP | Orphanet:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations |
| CREBBP | Orphanet:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
| CREBBP | Orphanet:370026 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
| CREBBP | Orphanet:592574 | Menke-Hennekam syndrome |
| KCNJ11 | Orphanet:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
| KCNJ11 | Orphanet:276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
| KCNJ11 | Orphanet:552 | MODY |
| KCNJ11 | Orphanet:79134 | DEND syndrome |
| KCNJ11 | Orphanet:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
| KCNJ11 | Orphanet:99885 | Isolated permanent neonatal diabetes mellitus |
| KCNJ11 | Orphanet:99886 | Transient neonatal diabetes mellitus |
| KCNJ11 | Orphanet:99989 | Intermediate DEND syndrome |
| NAGLU | Orphanet:447964 | Autosomal dominant Charcot-Marie-Tooth disease type 2V |
| NAGLU | Orphanet:79270 | Sanfilippo syndrome type B |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| FGF5 | HGNC:3683 | ENSG00000138675 | P12034 | Fibroblast growth factor 5 | gencc |
| RAB3GAP1 | HGNC:17063 | ENSG00000115839 | Q15042 | Rab3 GTPase-activating protein catalytic subunit | clinvar |
| ARID1B | HGNC:18040 | ENSG00000049618 | Q8NFD5 | AT-rich interactive domain-containing protein 1B | clinvar |
| ASXL1 | HGNC:18318 | ENSG00000171456 | Q8IXJ9 | Polycomb group protein ASXL1 | clinvar |
| CREBBP | HGNC:2348 | ENSG00000005339 | Q92793 | CREB-binding protein | clinvar |
| KCNJ11 | HGNC:6257 | ENSG00000187486 | Q14654 | ATP-sensitive inward rectifier potassium channel 11 | clinvar |
| NAGLU | HGNC:7632 | ENSG00000108784 | P54802 | Alpha-N-acetylglucosaminidase | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| FGF5 | Fibroblast growth factor 5 | Plays an important role in the regulation of cell proliferation and cell differentiation. |
| RAB3GAP1 | Rab3 GTPase-activating protein catalytic subunit | Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins. |
| ARID1B | AT-rich interactive domain-containing protein 1B | Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). |
| ASXL1 | Polycomb group protein ASXL1 | Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). |
| CREBBP | CREB-binding protein | Acetylates histones, giving a specific tag for transcriptional activation. |
| KCNJ11 | ATP-sensitive inward rectifier potassium channel 11 | Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells. |
| NAGLU | Alpha-N-acetylglucosaminidase | Involved in the degradation of heparan sulfate. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 4 · Druggable fraction: 0.29
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 |
|---|---|---|---|
| Ion channel | 1 | 15.9× | 0.244 |
| Enzyme (other) | 1 | 1.7× | 0.626 |
| Transcription factor | 1 | 1.2× | 0.626 |
| Other/Unknown | 4 | 1.0× | 0.626 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| FGF5 | Other/Unknown | no | Fibroblast_GF_fam, IL1/FGF | |
| RAB3GAP1 | Other/Unknown | no | Rab3GAP1_conserved, Rab3GAP1_C, Rab3GAP1 | |
| ARID1B | Other/Unknown | no | ARID_dom, BAF250/Osa, BAF250_C | |
| ASXL1 | Other/Unknown | no | Asxl_HARE-HTH, ASX/ASX-like, ASX-like_PHD | |
| CREBBP | Transcription factor | no | 2.3.1.48 | Znf_TAZ, Znf_ZZ, Bromodomain |
| KCNJ11 | Ion channel | yes | K_chnl_inward-rec_Kir6.2, K_chnl_inward-rec_Kir_cyto, Ig_E-set | |
| NAGLU | Enzyme (other) | yes | 3.2.1.50 | NAGLU, GH_hydrolase_sf, NAGLU_N |
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) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| sural nerve | 3 |
| stromal cell of endometrium | 2 |
| buccal mucosa cell | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| Brodmann (1909) area 23 | 1 |
| hair follicle | 1 |
| secondary oocyte | 1 |
| bone marrow cell | 1 |
| colonic epithelium | 1 |
| adrenal tissue | 1 |
| sperm | 1 |
| amniotic fluid | 1 |
| tibia | 1 |
| gastrocnemius | 1 |
| hindlimb stylopod muscle | 1 |
| muscle of leg | 1 |
| body of pancreas | 1 |
| mucosa of stomach | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| FGF5 | 102 | broad | marker | buccal mucosa cell, stromal cell of endometrium, male germ line stem cell (sensu Vertebrata) in testis |
| RAB3GAP1 | 300 | ubiquitous | marker | hair follicle, Brodmann (1909) area 23, secondary oocyte |
| ARID1B | 256 | ubiquitous | marker | bone marrow cell, colonic epithelium, sural nerve |
| ASXL1 | 294 | ubiquitous | marker | sural nerve, sperm, adrenal tissue |
| CREBBP | 297 | ubiquitous | marker | sural nerve, tibia, amniotic fluid |
| KCNJ11 | 161 | broad | yes | gastrocnemius, hindlimb stylopod muscle, muscle of leg |
| NAGLU | 268 | ubiquitous | marker | stromal cell of endometrium, body of pancreas, mucosa of stomach |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CREBBP | 6,959 |
| FGF5 | 3,791 |
| ASXL1 | 2,816 |
| ARID1B | 2,131 |
| RAB3GAP1 | 2,039 |
| KCNJ11 | 1,715 |
| NAGLU | 1,200 |
Structural data
PDB: 6 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CREBBP | Q92793 | 144 |
| KCNJ11 | Q14654 | 9 |
| ASXL1 | Q8IXJ9 | 4 |
| ARID1B | Q8NFD5 | 2 |
| RAB3GAP1 | Q15042 | 1 |
| NAGLU | P54802 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| FGF5 | P12034 | 76.62 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 191. Enrichment computed across 7 evidence-associated genes (7 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 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| MPS IIIB - Sanfilippo syndrome B | 1 | 1631.4× | 0.039 | NAGLU |
| Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome | 1 | 815.7× | 0.039 | KCNJ11 |
| Defective ABCC8 can cause hypo- and hyper-glycemias | 1 | 815.7× | 0.039 | KCNJ11 |
| ATP sensitive Potassium channels | 1 | 407.9× | 0.039 | KCNJ11 |
| LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | 1 | 326.3× | 0.039 | CREBBP |
| NFE2L2 regulating inflammation associated genes | 1 | 326.3× | 0.039 | CREBBP |
| NFE2L2 regulating ER-stress associated genes | 1 | 326.3× | 0.039 | CREBBP |
| Mucopolysaccharidoses | 1 | 271.9× | 0.039 | NAGLU |
| RUNX1 regulates transcription of genes involved in differentiation of myeloid cells | 1 | 203.9× | 0.039 | CREBBP |
| NFE2L2 regulates pentose phosphate pathway genes | 1 | 203.9× | 0.039 | CREBBP |
| NFE2L2 regulating MDR associated enzymes | 1 | 203.9× | 0.039 | CREBBP |
| Regulation of NFE2L2 gene expression | 1 | 203.9× | 0.039 | CREBBP |
| Regulation of FOXO transcriptional activity by acetylation | 1 | 163.1× | 0.039 | CREBBP |
| Regulation of gene expression by Hypoxia-inducible Factor | 1 | 135.9× | 0.039 | CREBBP |
| Signaling by activated point mutants of FGFR1 | 1 | 135.9× | 0.039 | FGF5 |
| Signaling by activated point mutants of FGFR3 | 1 | 135.9× | 0.039 | FGF5 |
| Activation of the TFAP2 (AP-2) family of transcription factors | 1 | 135.9× | 0.039 | CREBBP |
| NFE2L2 regulating tumorigenic genes | 1 | 135.9× | 0.039 | CREBBP |
| Cellular response to hypoxia | 1 | 125.5× | 0.039 | CREBBP |
| FGFR3c ligand binding and activation | 1 | 125.5× | 0.039 | FGF5 |
| FGFR2c ligand binding and activation | 1 | 125.5× | 0.039 | FGF5 |
| Phospholipase C-mediated cascade; FGFR3 | 1 | 125.5× | 0.039 | FGF5 |
| FGFRL1 modulation of FGFR1 signaling | 1 | 125.5× | 0.039 | FGF5 |
| Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters | 1 | 125.5× | 0.039 | CREBBP |
| Diseases of carbohydrate metabolism | 1 | 116.5× | 0.039 | NAGLU |
| RUNX3 regulates NOTCH signaling | 1 | 116.5× | 0.039 | CREBBP |
| FGFR1c ligand binding and activation | 1 | 108.8× | 0.039 | FGF5 |
| TRAF3-dependent IRF activation pathway | 1 | 108.8× | 0.039 | CREBBP |
| Inwardly rectifying K+ channels | 1 | 102.0× | 0.039 | KCNJ11 |
| R-HSA-1368082 | 1 | 102.0× | 0.039 | CREBBP |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cellular response to nutrient levels | 2 | 133.8× | 0.008 | CREBBP, KCNJ11 |
| determination of adult lifespan | 2 | 123.5× | 0.008 | KCNJ11, NAGLU |
| response to disaccharide | 1 | 2407.4× | 0.014 | NAGLU |
| regulation of kidney size | 1 | 1203.7× | 0.014 | ASXL1 |
| positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization | 1 | 1203.7× | 0.014 | RAB3GAP1 |
| regulation of calcium ion-dependent exocytosis of neurotransmitter | 1 | 1203.7× | 0.014 | RAB3GAP1 |
| rod bipolar cell differentiation | 1 | 1203.7× | 0.014 | NAGLU |
| nervous system development | 3 | 19.7× | 0.014 | ARID1B, FGF5, NAGLU |
| N-terminal peptidyl-lysine acetylation | 1 | 802.5× | 0.015 | CREBBP |
| establishment of protein localization to endoplasmic reticulum membrane | 1 | 802.5× | 0.015 | RAB3GAP1 |
| ganglioside metabolic process | 1 | 601.9× | 0.015 | NAGLU |
| left ventricular cardiac muscle tissue morphogenesis | 1 | 601.9× | 0.015 | NAGLU |
| positive regulation of protein lipidation | 1 | 601.9× | 0.015 | RAB3GAP1 |
| positive regulation of endoplasmic reticulum tubular network organization | 1 | 601.9× | 0.015 | RAB3GAP1 |
| cone retinal bipolar cell differentiation | 1 | 601.9× | 0.015 | NAGLU |
| positive regulation of retinoic acid receptor signaling pathway | 1 | 481.5× | 0.016 | ASXL1 |
| response to resveratrol | 1 | 481.5× | 0.016 | KCNJ11 |
| cytoplasm organization | 1 | 401.2× | 0.016 | NAGLU |
| heparin proteoglycan metabolic process | 1 | 401.2× | 0.016 | NAGLU |
| negative regulation of peroxisome proliferator activated receptor signaling pathway | 1 | 401.2× | 0.016 | ASXL1 |
| CAMKK-AMPK signaling cascade | 1 | 401.2× | 0.016 | KCNJ11 |
| response to hypoxia | 2 | 27.4× | 0.016 | CREBBP, KCNJ11 |
| negative regulation of transcription by RNA polymerase I | 1 | 343.9× | 0.016 | CREBBP |
| glycosaminoglycan metabolic process | 1 | 343.9× | 0.016 | NAGLU |
| inner ear receptor cell development | 1 | 343.9× | 0.016 | NAGLU |
| ventricular cardiac muscle tissue development | 1 | 300.9× | 0.017 | KCNJ11 |
| lung saccule development | 1 | 300.9× | 0.017 | ASXL1 |
| heparan sulfate proteoglycan catabolic process | 1 | 267.5× | 0.018 | NAGLU |
| mitral valve morphogenesis | 1 | 240.7× | 0.018 | NAGLU |
| homeostatic process | 1 | 240.7× | 0.018 | CREBBP |
Therapeutics
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 5
Druggability breadth: 3 of 7 evidence-associated genes (43%) 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 |
|---|---|
| CREBBP | COLCHICINE |
| KCNJ11 | PINACIDIL ANHYDROUS |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CREBBP | 13 | 4 |
| KCNJ11 | 7 | 4 |
| FGF5 | 0 | 0 |
| RAB3GAP1 | 0 | 0 |
| ARID1B | 0 | 0 |
| ASXL1 | 0 | 0 |
| NAGLU | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| COLCHICINE | 4 | CREBBP |
| ALTRETAMINE | 4 | CREBBP |
| PINACIDIL ANHYDROUS | 4 | KCNJ11 |
| GLYBURIDE | 4 | KCNJ11 |
| PROPAFENONE | 4 | KCNJ11 |
| DIAZOXIDE | 4 | KCNJ11 |
| CURCUMIN | 3 | CREBBP |
| PAPAVERINE | 3 | CREBBP |
| EPIGALOCATECHIN GALLATE | 3 | CREBBP |
| MOLIBRESIB | 2 | CREBBP |
| FISETIN | 2 | CREBBP |
| ETAZOLATE | 2 | CREBBP |
| LUNRESERTIB | 2 | CREBBP |
| TRACAZOLATE | 2 | CREBBP |
| NOCODAZOLE | 2 | CREBBP |
| CROMAKALIM | 2 | KCNJ11 |
| CLAMIKALANT | 2 | KCNJ11 |
| TIFENAZOXIDE | 2 | KCNJ11 |
| INOBRODIB | 1 | CREBBP |
| AZD-5153 | 1 | CREBBP |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CREBBP | 687 | Binding:644, Functional:43 |
| KCNJ11 | 102 | Functional:59, Binding:43 |
| NAGLU | 4 | Binding:4 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CREBBP | 2.3.1.48 | histone acetyltransferase |
| NAGLU | 3.2.1.50 | alpha-N-acetylglucosaminidase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CREBBP | 687 |
| KCNJ11 | 102 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
20 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) |
|---|---|---|
| COLCHICINE | 4 | CREBBP |
| ALTRETAMINE | 4 | CREBBP |
| PINACIDIL ANHYDROUS | 4 | KCNJ11 |
| GLYBURIDE | 4 | KCNJ11 |
| PROPAFENONE | 4 | KCNJ11 |
| DIAZOXIDE | 4 | KCNJ11 |
| CURCUMIN | 3 | CREBBP |
| PAPAVERINE | 3 | CREBBP |
| EPIGALOCATECHIN GALLATE | 3 | CREBBP |
| MOLIBRESIB | 2 | CREBBP |
| FISETIN | 2 | CREBBP |
| ETAZOLATE | 2 | CREBBP |
| LUNRESERTIB | 2 | CREBBP |
| TRACAZOLATE | 2 | CREBBP |
| NOCODAZOLE | 2 | CREBBP |
| CROMAKALIM | 2 | KCNJ11 |
| CLAMIKALANT | 2 | KCNJ11 |
| TIFENAZOXIDE | 2 | KCNJ11 |
| INOBRODIB | 1 | CREBBP |
| AZD-5153 | 1 | CREBBP |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | CREBBP, KCNJ11 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | NAGLU |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 4 | FGF5, RAB3GAP1, ARID1B, ASXL1 |
Undrugged target profiles
5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| FGF5 | 0 | — |
| RAB3GAP1 | 0 | — |
| ARID1B | 0 | — |
| ASXL1 | 0 | — |
| NAGLU | 4 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 11.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 7 |
| PHASE1/PHASE2 | 2 |
| PHASE3 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01212172 | PHASE3 | COMPLETED | Comparison of Efficacy, Safety and Tolerability of Two Different 810 nm Diode Lasers for Hair Reduction |
| NCT00371930 | PHASE1/PHASE2 | UNKNOWN | Photodynamic Therapy for Permanent Hair Removal |
| NCT02793557 | PHASE1/PHASE2 | COMPLETED | Investigation of FOL-005 on Clinical Safety and Effect on Hair Growth |
| NCT00580736 | PHASE1 | COMPLETED | Optical Clearing of the Skin in Conjunction With Laser Treatments |
| NCT05775328 | Not specified | RECRUITING | Treatment of Hypertrichosis With Intense Pulsed Light |
| NCT00441948 | Not specified | UNKNOWN | Enhanced Safety Laser Hair Removal System |
| NCT00495443 | Not specified | UNKNOWN | Enhanced Safety Aesthetic Laser System |
| NCT00773136 | Not specified | COMPLETED | Eyelash Growth From Application of Bimatoprost in Gel Suspension to the Base of the Eyelashes |
| NCT01912950 | Not specified | COMPLETED | Pilot Study of a Novel IPL for Removal of Unwanted Fine Body Hair |
| NCT02536092 | Not specified | WITHDRAWN | A Prospective Multi-Center Study of a Novel Dual-Wavelength Laser for Hair Removal |
| NCT03273504 | Not specified | COMPLETED | Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BIMATOPROST | 4 | 1 |
| CHEMBL4303730 | 0 | 1 |