Kaposi sarcoma, susceptibility to

Summary

Kaposi sarcoma, susceptibility to (MONDO:0007845) is a cancer caused by IL6 (GenCC Definitive), with 2 cohort genes (1 CIViC-evidence somatic driver; 2 ClinVar predisposition records).

At a glance

• Classification: Cancer
• Causal gene: IL6 (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Kaposi sarcoma, susceptibility to
Mondo ID	MONDO:0007845
OMIM	148000
UMLS	C3538945
MedGen	761233
GARD	0027781
Is cancer (heuristic)	yes

Also known as: Kaposi sarcoma, susceptibility to

Data availability: 2 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › Kaposi sarcoma, susceptibility to

Related subtypes (116): mosaic variegated aneuploidy syndrome, tuberous sclerosis, hereditary breast ovarian cancer syndrome, hereditary multiple osteochondromas, nevoid basal cell carcinoma syndrome, leukemia, chronic lymphocytic, susceptibility to, 2, blue rubber bleb nevus, cherubism, Beckwith-Wiedemann syndrome, multiple self-healing squamous epithelioma, erythroleukemia, familial, susceptibility to, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, hyperparathyroidism 2 with jaw tumors, hereditary leiomyomatosis and renal cell cancer, susceptibility to uveal melanoma, melanoma and neural system tumor syndrome, nasopharyngeal carcinoma, susceptibility to, 2, WAGR syndrome, neuroblastoma, susceptibility to, 1, Rothmund-Thomson syndrome, mismatch repair cancer syndrome 1, Wiskott-Aldrich syndrome, N syndrome, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, prostate cancer/brain cancer susceptibility, Brooke-Spiegler syndrome, pancreatic cancer, susceptibility to, 1, Carney-Stratakis syndrome, nasopharyngeal carcinoma, susceptibility to, 1, ovarian cancer, susceptibility to, 1, colorectal cancer, susceptibility to, 1, lung cancer susceptibility 1, leukemia, chronic lymphocytic, susceptibility to, 1, Kostmann syndrome, colorectal cancer, susceptibility to, 2, colorectal cancer, susceptibility to, 3, colorectal cancer, susceptibility to, 5, colorectal cancer, susceptibility to, 6, colorectal cancer, susceptibility to, 7, leukemia, chronic lymphocytic, susceptibility to, 3, leukemia, chronic lymphocytic, susceptibility to, 4, leukemia, chronic lymphocytic, susceptibility to, 5, lung cancer susceptibility 3, colorectal cancer, susceptibility to, 8, colorectal cancer, susceptibility to, 9, colorectal cancer, susceptibility to, 10, colorectal cancer, susceptibility to, 11, lung cancer susceptibility 4, neuroblastoma, susceptibility to, 3, neuroblastoma, susceptibility to, 4, neuroblastoma, susceptibility to, 5, neuroblastoma, susceptibility to, 6, leukemia, acute lymphocytic, susceptibility to, 1, leukemia, acute lymphocytic, susceptibility to, 2, lung cancer susceptibility 5, BAP1-related tumor predisposition syndrome, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, basal cell carcinoma, susceptibility to, 7, colorectal cancer, susceptibility to, 12, leukemia, acute lymphoblastic, susceptibility to, 3, cholangiocarcinoma, susceptibility to, progeroid features-hepatocellular carcinoma predisposition syndrome, neuroblastoma, susceptibility to, 7, DDX41-related hematologic malignancy predisposition syndrome, nasopharyngeal carcinoma, susceptibility to, 3, familial isolated hyperparathyroidism, intestinal polyposis syndrome, dyskeratosis congenita, familial rhabdoid tumor, multiple endocrine neoplasia, hereditary pheochromocytoma-paraganglioma, PTEN hamartoma tumor syndrome, familial multiple fibrofolliculoma, hereditary retinoblastoma, familial atypical multiple mole melanoma syndrome, hereditary nonpolyposis colon cancer, Li-Fraumeni syndrome, Cobb syndrome, neurofibromatosis, susceptibility to familial cutaneous melanoma, pancreatic cancer, susceptibility to, 5, leukemia, acute myeloid, susceptibility to, diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, glioma susceptibility, hemangioma, capillary infantile, susceptibility to, CDH1-related diffuse gastric and lobular breast cancer syndrome, NTHL1-deficiency tumor predisposition syndrome, SAMD9-related spectrum and myeloid neoplasm risk, neuroblastoma, susceptibility to, 2, BARD1-related cancer predisposition, BRCA1-related cancer predisposition, BRCA2-related cancer predisposition, ATM-related cancer predisposition, CHEK2-related cancer predisposition, PALB2-related cancer predisposition, RAD51C-related cancer predisposition, RAD51D-related cancer predisposition, Li-fraumeni-like syndrome, breast cancer, familial, susceptibility to, 1, breast cancer, familial, susceptibility to, 2, breast cancer, familial, susceptibility to, 3, colorectal cancer, susceptibility to, 4, colorectal cancer, susceptibility to, on chromosome 15, ovarian cancer, familial, susceptibility to, 1, ovarian cancer, familial, susceptibility to, 2, ovarian cancer, familial, susceptibility to, 3, inherited hematologic cancer-predisposing syndrome, mosaic neurofibromatosis/schwannomatosis, tumor predisposition syndrome 2, prostate cancer, hereditary, X-linked 3, follicular lymphoma, susceptibility to, GPR161-related medulloblastoma predisposition, SAMD9L-related spectrum and myeloid neoplasm risk, HAVCR2-related cancer predisposition, EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition

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

2 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
2077514	NM_182641.4(BPTF):c.6035T>C (p.Ile2012Thr)	BPTF	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3481709	NM_182641.4(BPTF):c.204G>C (p.Arg68Ser)	BPTF	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
IL6			CIViC #2970

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
IL6	Definitive	Autosomal dominant	Kaposi sarcoma, susceptibility to	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IL6	Orphanet:85414	Systemic-onset juvenile idiopathic arthritis
BPTF	Orphanet:529962	17q24.2 microdeletion syndrome
BPTF	Orphanet:686482	BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
IL6	HGNC:6018	ENSG00000136244	P05231	Interleukin-6	gencc
BPTF	HGNC:3581	ENSG00000171634	Q12830	Nucleosome-remodeling factor subunit BPTF	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL6	Interleukin-6	Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism.
BPTF	Nucleosome-remodeling factor subunit BPTF	Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcrip…

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IL6	Other/Unknown	no		IL-6-like, 4_helix_cytokine-like_core, IL6/GCSF/MGF_CS
BPTF	Transcription factor	no		Bromodomain, Znf_PHD, Znf_FYVE_PHD

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cartilage tissue	1
gall bladder	1
vena cava	1
cortical plate	1
sural nerve	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL6	200	ubiquitous	marker	cartilage tissue, vena cava, gall bladder
BPTF	290	ubiquitous	marker	sural nerve, ventricular zone, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL6	9,239
BPTF	2,682

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BPTF	Q12830	45
IL6	P05231	17

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 2 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
MAPK1 (ERK2) activation	1	1142.0×	0.003	IL6
CD163 mediating an anti-inflammatory response	1	1142.0×	0.003	IL6
MAPK3 (ERK1) activation	1	1038.2×	0.003	IL6
Interleukin-6 signaling	1	951.7×	0.003	IL6
Transcriptional Regulation by VENTX	1	265.6×	0.007	IL6
ADORA2B mediated anti-inflammatory cytokines production	1	253.8×	0.007	IL6
Interleukin-10 signaling	1	233.1×	0.007	IL6
Activation of STAT3 by cadherin engagement	1	163.1×	0.009	IL6
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.011	IL6
Post-translational protein phosphorylation	1	100.2×	0.011	IL6
Senescence-Associated Secretory Phenotype (SASP)	1	99.3×	0.011	IL6
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	86.5×	0.012	IL6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of astrocyte activation	1	4213.0×	0.005	IL6
glucagon secretion	1	4213.0×	0.005	IL6
neutrophil apoptotic process	1	2808.7×	0.005	IL6
hepatic immune response	1	2808.7×	0.005	IL6
positive regulation of interleukin-21 production	1	2808.7×	0.005	IL6
regulation of vascular endothelial growth factor production	1	2106.5×	0.005	IL6
regulation of glucagon secretion	1	2106.5×	0.005	IL6
regulation of microglial cell activation	1	2106.5×	0.005	IL6
negative regulation of primary miRNA processing	1	2106.5×	0.005	IL6
positive regulation of apoptotic DNA fragmentation	1	1404.3×	0.005	IL6
vascular endothelial growth factor production	1	1203.7×	0.005	IL6
response to peptidoglycan	1	1203.7×	0.005	IL6
positive regulation of type B pancreatic cell apoptotic process	1	1203.7×	0.005	IL6
negative regulation of chemokine production	1	1053.2×	0.005	IL6
positive regulation of B cell activation	1	1053.2×	0.005	IL6
hepatocyte proliferation	1	1053.2×	0.005	IL6
inflammatory response to wounding	1	1053.2×	0.005	IL6
germinal center B cell differentiation	1	842.6×	0.005	IL6
positive regulation of receptor signaling pathway via STAT	1	842.6×	0.005	IL6
negative regulation of interleukin-1-mediated signaling pathway	1	842.6×	0.005	IL6
negative regulation of lipid storage	1	766.0×	0.005	IL6
T-helper 17 cell lineage commitment	1	766.0×	0.005	IL6
positive regulation of T-helper 2 cell cytokine production	1	766.0×	0.005	IL6
neutrophil mediated immunity	1	702.2×	0.005	IL6
positive regulation of acute inflammatory response	1	702.2×	0.005	IL6
T follicular helper cell differentiation	1	702.2×	0.005	IL6
regulation of neuroinflammatory response	1	702.2×	0.005	IL6
positive regulation of leukocyte adhesion to vascular endothelial cell	1	702.2×	0.005	IL6
positive regulation of leukocyte chemotaxis	1	648.1×	0.005	IL6
positive regulation of platelet aggregation	1	648.1×	0.005	IL6

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 2 · Undrugged: 0

Druggability breadth: 2 of 2 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
IL6	PREDNISOLONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IL6	3	4
BPTF	2	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PREDNISOLONE	4	IL6
FOSDAGROCORAT	2	IL6
IPIDACRINE	2	BPTF
BI-2536	2	BPTF
BI 653048	1	IL6

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
BPTF	125	Binding:123, Functional:2
IL6	16	Binding:16

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
BPTF	125

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

5 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Compound	Max phase	Cohort target (bioactivity)
PREDNISOLONE	4	IL6
FOSDAGROCORAT	2	IL6
IPIDACRINE	2	BPTF
BI-2536	2	BPTF
BI 653048	1	IL6

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	IL6
B	Phased (≥1) drug, not yet approved	1	BPTF
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: 0.