Adamantinous craniopharyngioma

Summary

Adamantinous craniopharyngioma (MONDO:0002787) is a disease with 1 cohort gene and 4 clinical trials. Top therapeutic interventions include tocilizumab, tipiracil, and trifluridine.

At a glance

• Cohort genes: 1
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	adamantinous craniopharyngioma
Mondo ID	MONDO:0002787
DOID	DOID:3846
NCIT	C4726
UMLS	C0431129
MedGen	98126
GARD	0023245
Is cancer (heuristic)	no

Also known as: adamantinomatous craniopharyngioma · adamantinous craniopharyngioma (morphologic abnormality) · adamantinous neoplasm of Rathke’s pouch · adamantinous Rathke’s pouch neoplasm · adamantinous Rathke’s pouch tumor · adamantinous Rathke’s pouch tumour · adamantinous tumor of Rathke’s pouch · adamantinous tumour of Rathke’s pouch · craniopharyngioma, adamantinomatous

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › nervous system benign neoplasm › central nervous system organ benign neoplasm › craniopharyngioma › adamantinous craniopharyngioma

Related subtypes (1): papillary craniopharyngioma

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin

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
adrenal tissue	1
periodontal ligament	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNNB1	15,668

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CTNNB1	P35222	50

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 46. 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
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	1	2284.0×	0.004	CTNNB1
CDH11 homotypic and heterotypic interactions	1	1631.4×	0.004	CTNNB1
Regulation of CDH19 Expression and Function	1	1427.5×	0.004	CTNNB1
InlA-mediated entry of Listeria monocytogenes into host cells	1	1268.9×	0.004	CTNNB1
Binding of TCF/LEF:CTNNB1 to target gene promoters	1	1142.0×	0.004	CTNNB1
RUNX3 regulates WNT signaling	1	1142.0×	0.004	CTNNB1
Apoptotic cleavage of cell adhesion proteins	1	1038.2×	0.004	CTNNB1
Regulation of CDH11 function	1	1038.2×	0.004	CTNNB1
Regulation of CDH1 Function	1	951.7×	0.004	CTNNB1
Formation of axial mesoderm	1	815.7×	0.004	CTNNB1
Signaling by GSK3beta mutants	1	761.3×	0.004	CTNNB1
CTNNB1 S33 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 S37 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 S45 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 T41 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
Formation of definitive endoderm	1	713.8×	0.004	CTNNB1
Beta-catenin phosphorylation cascade	1	671.8×	0.004	CTNNB1
Germ layer formation at gastrulation	1	671.8×	0.004	CTNNB1
Formation of the nephric duct	1	634.4×	0.004	CTNNB1
Specification of the neural plate border	1	634.4×	0.004	CTNNB1
Regulation of MITF-M-dependent genes involved in cell cycle and proliferation	1	571.0×	0.004	CTNNB1
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)	1	519.1×	0.004	CTNNB1
SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)	1	496.5×	0.004	CTNNB1
Cardiogenesis	1	423.0×	0.004	CTNNB1
VEGFR2 mediated vascular permeability	1	407.9×	0.004	CTNNB1
Formation of paraxial mesoderm	1	407.9×	0.004	CTNNB1
Myogenesis	1	380.7×	0.004	CTNNB1
Disassembly of the destruction complex and recruitment of AXIN to the membrane	1	356.9×	0.005	CTNNB1
RHO GTPases activate IQGAPs	1	346.1×	0.005	CTNNB1
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	1	335.9×	0.005	CTNNB1

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
glial cell fate determination	1	16852.0×	0.001	CTNNB1
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	1	16852.0×	0.001	CTNNB1
cranial ganglion development	1	16852.0×	0.001	CTNNB1
neural plate development	1	8426.0×	0.001	CTNNB1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	8426.0×	0.001	CTNNB1
regulation of centriole-centriole cohesion	1	8426.0×	0.001	CTNNB1
negative regulation of mitotic cell cycle, embryonic	1	8426.0×	0.001	CTNNB1
regulation of timing of anagen	1	8426.0×	0.001	CTNNB1
positive regulation of branching involved in lung morphogenesis	1	8426.0×	0.001	CTNNB1
renal vesicle formation	1	8426.0×	0.001	CTNNB1
renal inner medulla development	1	8426.0×	0.001	CTNNB1
renal outer medulla development	1	8426.0×	0.001	CTNNB1
nephron tubule formation	1	8426.0×	0.001	CTNNB1
regulation of nephron tubule epithelial cell differentiation	1	8426.0×	0.001	CTNNB1
mesenchymal stem cell differentiation	1	8426.0×	0.001	CTNNB1
positive regulation of determination of dorsal identity	1	8426.0×	0.001	CTNNB1
astrocyte-dopaminergic neuron signaling	1	5617.3×	0.001	CTNNB1
regulation of fibroblast proliferation	1	5617.3×	0.001	CTNNB1
oviduct development	1	5617.3×	0.001	CTNNB1
lung induction	1	5617.3×	0.001	CTNNB1
positive regulation of epithelial cell proliferation involved in prostate gland development	1	5617.3×	0.001	CTNNB1
fungiform papilla formation	1	5617.3×	0.001	CTNNB1
regulation of centromeric sister chromatid cohesion	1	5617.3×	0.001	CTNNB1
regulation of secondary heart field cardioblast proliferation	1	4213.0×	0.001	CTNNB1
metanephros morphogenesis	1	4213.0×	0.001	CTNNB1
positive regulation of heparan sulfate proteoglycan biosynthetic process	1	4213.0×	0.001	CTNNB1
embryonic skeletal limb joint morphogenesis	1	4213.0×	0.001	CTNNB1
central nervous system vasculogenesis	1	3370.4×	0.001	CTNNB1
genitalia morphogenesis	1	3370.4×	0.001	CTNNB1
epithelial cell differentiation involved in prostate gland development	1	3370.4×	0.001	CTNNB1

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
CTNNB1	DITHIAZANINE IODIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTNNB1	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
CTNNB1	361	Binding:358, Functional:3

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CTNNB1	361

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

4 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)
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CTNNB1
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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2
PHASE1/PHASE2	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05233397	PHASE2	RECRUITING	ACTEMRA® for the Treatment of Pediatric Adamantinomatous Craniopharyngioma
NCT05286788	PHASE2	RECRUITING	MEKTOVI® for the Treatment of Pediatric Adamantinomatous Craniopharyngioma
NCT05919264	PHASE1/PHASE2	RECRUITING	FOG-001 in Locally Advanced or Metastatic Solid Tumors
NCT03970226	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Tocilizumab in Children With ACP

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TOCILIZUMAB	4	2
TIPIRACIL	4	1
TRIFLURIDINE	4	1