ADULT syndrome

Summary

ADULT syndrome (MONDO:0007072) is a disease caused by TP63 (GenCC Definitive), with 1 cohort gene and 1 clinical trial.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: TP63 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 90
• Phenotypes (HPO): 24
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0000164	Abnormality of the dentition	Very frequent (80-99%)
HP:0000579	Nasolacrimal duct obstruction	Very frequent (80-99%)
HP:0000958	Dry skin	Very frequent (80-99%)
HP:0000963	Thin skin	Very frequent (80-99%)
HP:0000995	Melanocytic nevus	Very frequent (80-99%)
HP:0001480	Freckling	Very frequent (80-99%)
HP:0001597	Abnormality of the nail	Very frequent (80-99%)
HP:0001770	Toe syndactyly	Very frequent (80-99%)
HP:0001803	Nail pits	Very frequent (80-99%)
HP:0001839	Split foot	Very frequent (80-99%)
HP:0002213	Fine hair	Very frequent (80-99%)
HP:0006101	Finger syndactyly	Very frequent (80-99%)
HP:0100797	Toenail dysplasia	Very frequent (80-99%)
HP:0100798	Fingernail dysplasia	Very frequent (80-99%)
HP:0200042	Skin ulcer	Very frequent (80-99%)
HP:0001596	Alopecia	Frequent (30-79%)
HP:0002209	Sparse scalp hair	Frequent (30-79%)
HP:0002557	Hypoplastic nipples	Frequent (30-79%)
HP:0002561	Absent nipple	Frequent (30-79%)
HP:0003187	Breast hypoplasia	Frequent (30-79%)
HP:0006482	Abnormal dental morphology	Frequent (30-79%)
HP:0000271	Abnormality of the face	Occasional (5-29%)
HP:0000426	Prominent nasal bridge	Occasional (5-29%)
HP:0000431	Wide nasal bridge	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	ADULT syndrome
Mondo ID	MONDO:0007072
MeSH	C538052
OMIM	103285
Orphanet	978
DOID	DOID:0050601
ICD-11	1445741645
SNOMED CT	720464003
UMLS	C1863204
MedGen	400232
GARD	0000384
Is cancer (heuristic)	no

Also known as: acro dermato ungual lacrimal tooth syndrome · acro-dermato-ungual-lacrimal-tooth syndrome · acrodermatounguallacrimaltooth syndrome · ADULT syndrome · pigment anomaly-ectrodactyly-hypodontia syndrome

Data availability: 90 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › ADULT syndrome

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid 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

90 retrieved; paginated sample, class counts are floors:

49 uncertain significance, 12 conflicting classifications of pathogenicity, 10 likely benign, 7 benign/likely benign, 5 pathogenic, 4 pathogenic/likely pathogenic, 3 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1076262	NM_003722.5(TP63):c.1670G>T (p.Gly557Val)	TP63	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6527	NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	TP63	Pathogenic	criteria provided, multiple submitters, no conflicts
6534	NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	TP63	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6537	NM_001114980.2(TP63):c.16A>C (p.Asn6His)	TP63	Pathogenic	no assertion criteria provided
6540	NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)	TP63	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6546	TP63, VAL114MET	TP63	Pathogenic	no assertion criteria provided
6548	NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)	TP63	Pathogenic	criteria provided, single submitter
6550	NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	TP63	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6552	P127L	TP63	Pathogenic	no assertion criteria provided
3589070	NM_003722.5(TP63):c.345dup (p.Leu116fs)	TP63	Likely pathogenic	criteria provided, single submitter
3589074	NM_003722.5(TP63):c.1129+1G>A	TP63	Likely pathogenic	criteria provided, single submitter
4796625	NM_003722.5(TP63):c.733C>T (p.Pro245Ser)	TP63	Likely pathogenic	criteria provided, single submitter
1333323	NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1370798	NM_003722.5(TP63):c.1537G>C (p.Ala513Pro)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1412118	NM_003722.5(TP63):c.1814G>A (p.Arg605Gln)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1433359	NM_003722.5(TP63):c.1807G>C (p.Asp603His)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1476128	NM_003722.5(TP63):c.2003G>A (p.Arg668His)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1503085	NM_003722.5(TP63):c.1352C>G (p.Thr451Ser)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1561066	NM_003722.5(TP63):c.475C>T (p.Leu159Phe)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1598420	NM_003722.5(TP63):c.1367C>T (p.Pro456Leu)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1600102	NM_003722.5(TP63):c.1480A>G (p.Thr494Ala)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2721206	NM_003722.5(TP63):c.1661C>T (p.Ala554Val)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
725955	NM_003722.5(TP63):c.84T>G (p.His28Gln)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
899830	NM_003722.5(TP63):c.210G>C (p.Gln70His)	TP63	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1038841	NM_003722.5(TP63):c.1121C>T (p.Thr374Met)	TP63	Uncertain significance	criteria provided, multiple submitters, no conflicts
1042494	NM_003722.5(TP63):c.1697C>T (p.Thr566Met)	TP63	Uncertain significance	criteria provided, multiple submitters, no conflicts
1054108	NM_003722.5(TP63):c.799G>A (p.Val267Ile)	TP63	Uncertain significance	criteria provided, single submitter
1314992	NM_003722.5(TP63):c.2021G>A (p.Arg674His)	TP63	Uncertain significance	criteria provided, multiple submitters, no conflicts
1370657	NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)	TP63	Uncertain significance	criteria provided, multiple submitters, no conflicts
1375700	NM_003722.5(TP63):c.1507+6_1507+7del	TP63	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 16 · 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
TP63	Definitive	Autosomal dominant	ADULT syndrome	16

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TP63	Orphanet:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome
TP63	Orphanet:141291	Cleft lip and alveolus
TP63	Orphanet:1896	EEC syndrome
TP63	Orphanet:199302	Isolated cleft lip
TP63	Orphanet:199306	Cleft lip/palate
TP63	Orphanet:2440	Isolated split hand-split foot malformation
TP63	Orphanet:69085	Limb-mammary syndrome
TP63	Orphanet:93930	Classic bladder exstrophy
TP63	Orphanet:978	ADULT syndrome

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
TP63	HGNC:15979	ENSG00000073282	Q9H3D4	Tumor protein 63	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TP63	Tumor protein 63	Acts as a sequence specific DNA binding transcriptional activator or repressor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TP63	Transcription factor	no		SAM, p53_tumour_suppressor, p53-like_TF_DNA-bd_sf

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
skin of hip	1
upper arm skin	1
upper leg skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TP63	207	broad	marker	upper leg skin, skin of hip, upper arm skin

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TP63	2,893

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TP63	Q9H3D4	26

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. 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
Activation of PUMA and translocation to mitochondria	1	1142.0×	0.003	TP63
TP53 Regulates Transcription of Caspase Activators and Caspases	1	951.7×	0.003	TP63
TP53 Regulates Transcription of Death Receptors and Ligands	1	951.7×	0.003	TP63
Regulation of TP53 Activity through Association with Co-factors	1	815.7×	0.003	TP63
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	1	761.3×	0.003	TP63
Developmental Lineage of Mammary Stem Cells	1	761.3×	0.003	TP63
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	1	543.8×	0.003	TP63
Developmental Lineage of Mammary Gland Myoepithelial Cells	1	543.8×	0.003	TP63
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	1	456.8×	0.003	TP63
Pyroptosis	1	423.0×	0.003	TP63
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	1	278.5×	0.004	TP63
TP53 Regulates Metabolic Genes	1	129.8×	0.008	TP63

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
ectoderm and mesoderm interaction	1	16852.0×	0.001	TP63
epidermal cell division	1	16852.0×	0.001	TP63
cloacal septation	1	8426.0×	0.001	TP63
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	1	8426.0×	0.001	TP63
positive regulation of somatic stem cell population maintenance	1	8426.0×	0.001	TP63
regulation of epidermal cell division	1	5617.3×	0.001	TP63
female genitalia morphogenesis	1	5617.3×	0.001	TP63
negative regulation of mesoderm development	1	5617.3×	0.001	TP63
prostatic bud formation	1	4213.0×	0.001	TP63
polarized epithelial cell differentiation	1	2808.7×	0.002	TP63
negative regulation of keratinocyte differentiation	1	1685.2×	0.003	TP63
positive regulation of fibroblast apoptotic process	1	1685.2×	0.003	TP63
epithelial cell development	1	1532.0×	0.003	TP63
skin morphogenesis	1	1404.3×	0.003	TP63
negative regulation of intracellular estrogen receptor signaling pathway	1	1123.5×	0.003	TP63
positive regulation of cell cycle G1/S phase transition	1	1123.5×	0.003	TP63
establishment of planar polarity	1	1053.2×	0.003	TP63
positive regulation of keratinocyte proliferation	1	991.3×	0.003	TP63
sympathetic nervous system development	1	936.2×	0.003	TP63
cranial skeletal system development	1	936.2×	0.003	TP63
post-anal tail morphogenesis	1	732.7×	0.003	TP63
proximal/distal pattern formation	1	648.1×	0.003	TP63
negative regulation of cellular senescence	1	648.1×	0.003	TP63
protein tetramerization	1	624.1×	0.003	TP63
embryonic hindlimb morphogenesis	1	581.1×	0.003	TP63
keratinocyte proliferation	1	581.1×	0.003	TP63
positive regulation of apoptotic signaling pathway	1	581.1×	0.003	TP63
positive regulation of stem cell proliferation	1	526.6×	0.003	TP63
hair follicle morphogenesis	1	495.6×	0.003	TP63
embryonic forelimb morphogenesis	1	495.6×	0.003	TP63

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TP63	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	TP63

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)
TP63	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
NCT02160561	Not specified	COMPLETED	Feasibility of Upright Bed Position in ARDS Patients