Mastocytosis

Summary

Mastocytosis (MONDO:0007950) is a disease (an umbrella term covering 5 Mondo subtypes) caused by KIT (GenCC Strong), with 28 cohort genes (27 GWAS associations across 2 studies) and 34 clinical trials. Top therapeutic interventions include dasatinib anhydrous, cromolyn, and hydroxychloroquine.

At a glance

• Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
• Causal gene: KIT (GenCC Strong)
• Umbrella term: 5 Mondo subtypes
• Cohort genes: 28
• GWAS associations: 27
• ClinVar variants: 101
• Clinical trials: 34

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	10	Worldwide	Validated
Point prevalence	1-9 / 100 000	3	Europe	Validated
Point prevalence	1-9 / 100 000	9.59	Denmark	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	mastocytosis
Mondo ID	MONDO:0007950
EFO	EFO:0009001
MeSH	D008415
Orphanet	98292
DOID	DOID:350
ICD-11	691643472
NCIT	C84269
UMLS	C0024899
MedGen	9902
GARD	0006987
MedDRA	10026891
NORD	1408
Is cancer (heuristic)	no

Also known as: Mast cell disease · mastocytosis

Data availability: 101 ClinVar variants · 27 GWAS associations (2 studies) · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › myeloid neoplasm › mast cell neoplasm › mastocytosis

Related subtypes (1): mastocytoma

Subtypes (5): systemic mastocytosis, cutaneous mastocytosis, mast cell sarcoma, acute mast cell leukemia, chronic mast cell leukemia

Genetics & variants

GWAS landscape

27 GWAS associations across 2 studies. Top hits map to 31 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs10838094	8e-35	OR51B5, OR51Q1, HBG2, HBE1	A	0.21
rs80138802	7e-33	ABCA2	C	5.74
rs11845537	6e-24	RPL3P3, OTX2-AS1, LINC03059	A	5.62
rs9828758	9e-24	PRDX5P1 - LINC02005	T	0.15
rs4616402	1e-15	SLC7A10 - CEBPA	A	1.52
rs2279343	4e-15	CYP2B6	G	0.28
rs1611207	3e-13	HLA-F-AS1, HCG4, HLA-V, HLA-V	A	2.1
rs4662380	2e-12	LINC01412	C	1.46
rs76015112	8e-12	RPTN	G	0.3
rs1778155	1e-11	PDE4DIP	T	2.03
rs61735841	1e-09	FTCD	A	0.03
rs13077541	2e-09	TBL1XR1	G	1.33
rs34034473	6e-09	ZNF134	C	2.38
rs496250	3e-08	FXR1	T	1.93
rs3131382	3e-08	MSH5, CLIC1	A	2.6
rs4316218	7e-08	RMRPP5 - RN7SKP120	C	1.67
rs45487695	9e-08	MOCS1	T	3.89
rs8081489	9e-08	POLRMTP1 - TBC1D3P2	C	3.17
rs138366	2e-07	TPTEP2-CSNK1E	A	0.6
rs13015643	2e-07	NRXN1-DT	C	2.02
rs7931273	6e-07	ARHGAP42	T	0.57
rs3014818	8e-07	S100A7A	C	2.21
rs4987668	1e-06	TRPV6	C	2.6
rs355214	1e-06	LRRC4C	G	1.42
rs11131764	2e-06	VEGFC - LINC02509	C	1.65
rs7536189	2e-06	TRABD2B	C	0.65
rs58124832	9e-06	CACNA1H	A	1.44

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST012017	Galata G	2021	414	9,504	Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
GCST011383	Nedoszytko B	2020	234	5,606	Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	7
Tier 2: splice/UTR	3
Tier 3: regulatory	1
Tier 4: intronic/intergenic	16

MAF distribution

Bucket	Variants
common (>=0.05)	20
low_freq (0.01-0.05)	6
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	9
missense_variant	7
intergenic_variant	5
synonymous_variant	1
non_coding_transcript_exon_variant	1
splice_polypyrimidine_tract_variant	1
regulatory_region_variant	1
3_prime_UTR_variant	1
splice_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs10838094	11	5422663	G>A,C	0.411	missense_variant	OR51B5, OR51Q1, HBG2, HBE1	8e-35	Tier 1: coding
rs80138802	9	137021488	A>C,G	0.024	synonymous_variant	ABCA2	7e-33	Tier 4: intronic/intergenic
rs11845537	14	56979555	G>A,C	0.015	non_coding_transcript_exon_variant	RPL3P3, OTX2-AS1, LINC03059	6e-24	Tier 4: intronic/intergenic
rs9828758	3	73668985	C>G,T	0.293	intergenic_variant	PRDX5P1 - LINC02005	9e-24	Tier 4: intronic/intergenic
rs4616402	19	33262649	A>C,G,T	0.05	intergenic_variant	SLC7A10 - CEBPA	1e-15	Tier 4: intronic/intergenic
rs2279343	19	41009358	A>G,T	0.248	missense_variant	CYP2B6	4e-15	Tier 1: coding
rs1611207	6	29792099	G>A,C,T	0.381	splice_polypyrimidine_tract_variant	HLA-F-AS1, HCG4, HLA-V, HLA-V	3e-13	Tier 2: splice/UTR
rs4662380	2	144558840	T>C	0.05	intron_variant	LINC01412	2e-12	Tier 4: intronic/intergenic
rs76015112	1	152156618	A>G,T	0.214	missense_variant	RPTN	8e-12	Tier 1: coding
rs1778155	1	149009657	A>G	0.454	missense_variant	PDE4DIP	1e-11	Tier 1: coding
rs61735841	21	46138638	G>A,T	0.084	missense_variant	FTCD	1e-09	Tier 1: coding
rs13077541	3	177207952	G>A	0.05	intron_variant	TBL1XR1	2e-09	Tier 4: intronic/intergenic
rs34034473	19	57620738	A>C,G,T	0.05	missense_variant	ZNF134	6e-09	Tier 1: coding
rs496250	3	180909515	G>A,C,T	0.132	intron_variant	FXR1	3e-08	Tier 4: intronic/intergenic
rs3131382	6	31739953	T>A,C,G	0.032	regulatory_region_variant	MSH5, CLIC1	3e-08	Tier 3: regulatory
rs4316218	9	24906804	T>C	0.298	intergenic_variant	RMRPP5 - RN7SKP120	7e-08	Tier 4: intronic/intergenic
rs45487695	6	39927524	C>A,G,T	0.009	intron_variant	MOCS1	9e-08	Tier 4: intronic/intergenic
rs8081489	17	62207844	A>C,G	0.016	intergenic_variant	POLRMTP1 - TBC1D3P2	9e-08	Tier 4: intronic/intergenic
rs138366	22	38393931	G>A	0.5	intron_variant	TPTEP2-CSNK1E	2e-07	Tier 4: intronic/intergenic
rs13015643	2	52142599	A>C	0.076	intron_variant	NRXN1-DT	2e-07	Tier 4: intronic/intergenic
rs7931273	11	100977284	C>G,T	0.324	intron_variant	ARHGAP42	6e-07	Tier 4: intronic/intergenic
rs3014818	1	153421078	T>C	0.045	3_prime_UTR_variant	S100A7A	8e-07	Tier 2: splice/UTR
rs4987668	7	142874896	A>C,G	0.025	splice_region_variant	TRPV6	1e-06	Tier 2: splice/UTR
rs355214	11	40983917	A>C,G,T	0.05	intron_variant	LRRC4C	1e-06	Tier 4: intronic/intergenic
rs11131764	4	176799205	C>A,G,T	0.05	intergenic_variant	VEGFC - LINC02509	2e-06	Tier 4: intronic/intergenic
rs7536189	1	47865850	C>G,T	0.05	intron_variant	TRABD2B	2e-06	Tier 4: intronic/intergenic
rs58124832	16	1218376	G>A,T	0.05	missense_variant	CACNA1H	9e-06	Tier 1: coding

ClinVar germline variants

101 retrieved; paginated sample, class counts are floors:

39 conflicting classifications of pathogenicity, 38 uncertain significance, 19 benign/likely benign, 4 benign, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
13862	NM_000222.3(KIT):c.2515G>A (p.Glu839Lys)	KIT	Pathogenic	no assertion criteria provided
134621	NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
134629	NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
161260	NM_000222.3(KIT):c.952A>G (p.Met318Val)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
220634	NM_000222.3(KIT):c.1674G>A (p.Lys558=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
220917	NM_000222.3(KIT):c.2622G>A (p.Pro874=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
225286	NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237242	NM_000222.3(KIT):c.1383A>G (p.Thr461=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237248	NM_000222.3(KIT):c.1594G>A (p.Val532Ile)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237252	NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237254	NM_000222.3(KIT):c.2118T>G (p.Leu706=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237260	NM_000222.3(KIT):c.2349C>T (p.Leu783=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237263	NM_000222.3(KIT):c.2484C>T (p.Asn828=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237268	NM_000222.3(KIT):c.2670C>T (p.Leu890=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237270	NM_000222.3(KIT):c.2802+9A>G	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237285	NM_000222.3(KIT):c.878A>G (p.Asn293Ser)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
255567	NM_000222.3(KIT):c.-14T>A	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
348954	NM_000222.3(KIT):c.301C>T (p.His101Tyr)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
348960	NM_000222.3(KIT):c.*252G>T	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
409716	NM_000222.3(KIT):c.2848G>A (p.Val950Met)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
409722	NM_000222.3(KIT):c.148G>T (p.Val50Leu)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
409741	NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
409779	NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
409785	NM_000222.3(KIT):c.2234-3C>T	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
415776	NM_000222.3(KIT):c.252G>A (p.Thr84=)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
41600	NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
41601	NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
41604	NM_000222.3(KIT):c.821C>T (p.Thr274Met)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
41606	NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
458940	NM_000222.3(KIT):c.302A>G (p.His101Arg)	KIT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 15 · Orphanet: 33 · 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
KIT	Strong	Autosomal dominant	mastocytosis	15

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIT	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
KIT	Orphanet:158766	Typical urticaria pigmentosa
KIT	Orphanet:158769	Plaque-form urticaria pigmentosa
KIT	Orphanet:158772	Nodular urticaria pigmentosa
KIT	Orphanet:158775	Smoldering systemic mastocytosis
KIT	Orphanet:158778	Isolated bone marrow mastocytosis
KIT	Orphanet:280785	Bullous diffuse cutaneous mastocytosis
KIT	Orphanet:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis
KIT	Orphanet:2884	Piebaldism
KIT	Orphanet:44890	Gastrointestinal stromal tumor
KIT	Orphanet:566393	Acute mast cell leukemia
KIT	Orphanet:566396	Chronic mast cell leukemia
KIT	Orphanet:79455	Cutaneous mastocytoma
KIT	Orphanet:842	Testicular seminomatous germ cell tumor
KIT	Orphanet:90389	Telangiectasia macularis eruptiva perstans
KIT	Orphanet:98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
KIT	Orphanet:98834	Acute myeloblastic leukemia with maturation
KIT	Orphanet:98849	Systemic mastocytosis with associated hematologic neoplasm
VEGFC	Orphanet:569821	Congenital primary lymphedema of Gordon
CACNA1H	Orphanet:642671	Familial hyperaldosteronism type IV
CACNA1H	Orphanet:64280	Childhood absence epilepsy
TRPV6	Orphanet:417	Neonatal severe primary hyperparathyroidism
TRPV6	Orphanet:676	Autosomal dominant hereditary chronic pancreatitis
PRPF31	Orphanet:791	Retinitis pigmentosa
CEBPA	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
CEBPA	Orphanet:319465	Inherited acute myeloid leukemia
CEBPA	Orphanet:319480	Acute myeloid leukemia with CEBPA somatic mutations
TBL1XR1	Orphanet:487825	Pierpont syndrome
TBL1XR1	Orphanet:520	Acute promyelocytic leukemia
ABCA2	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability
FTCD	Orphanet:51208	Formiminoglutamic aciduria
MOCS1	Orphanet:308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MSH5	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation

Cohort genes → proteins

28 cohort genes, 24 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	27
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KIT	HGNC:6342	ENSG00000157404	P10721	Mast/stem cell growth factor receptor Kit	gencc,clinvar
SLC7A10	HGNC:11058	ENSG00000130876	Q9NS82	Asc-type amino acid transporter 1	gwas
VEGFC	HGNC:12682	ENSG00000150630	P49767	Vascular endothelial growth factor C	gwas
ZNF134	HGNC:12918	ENSG00000213762	P52741	Zinc finger protein 134	gwas
CACNA1H	HGNC:1395	ENSG00000196557	O95180	Voltage-dependent T-type calcium channel subunit alpha-1H	gwas
TRPV6	HGNC:14006	ENSG00000165125	Q9H1D0	Transient receptor potential cation channel subfamily V member 6	gwas
OR51Q1	HGNC:14851	ENSG00000167360	Q8NH59	Olfactory receptor 51Q1	gwas
PRPF31	HGNC:15446	ENSG00000105618	Q8WWY3	U4/U6 small nuclear ribonucleoprotein Prp31	gwas
PDE4DIP	HGNC:15580	ENSG00000178104	Q5VU43	Myomegalin	gwas
CEBPA	HGNC:1833	ENSG00000245848	P49715	CCAAT/enhancer-binding protein alpha	gwas
S100A7A	HGNC:21657	ENSG00000184330	Q86SG5	Protein S100-A7A	gwas
HLA-V	HGNC:23482	ENSG00000181126		major histocompatibility complex, class I, V (pseudogene)	gwas
CSNK1E	HGNC:2453	ENSG00000213923	P49674	Casein kinase I isoform epsilon	gwas
NEIL3	HGNC:24573	ENSG00000109674	Q8TAT5	Endonuclease 8-like 3	gwas
CYP2B6	HGNC:2615	ENSG00000197408	P20813	Cytochrome P450 2B6	gwas
ARHGAP42	HGNC:26545	ENSG00000165895	A6NI28	Rho GTPase-activating protein 42	gwas
RPTN	HGNC:26809	ENSG00000215853	Q6XPR3	Repetin	gwas
LRRC4C	HGNC:29317	ENSG00000148948	Q9HCJ2	Leucine-rich repeat-containing protein 4C	gwas
TBL1XR1	HGNC:29529	ENSG00000177565	Q9BZK7	F-box-like/WD repeat-containing protein TBL1XR1	gwas
ABCA2	HGNC:32	ENSG00000107331	Q9BZC7	ATP-binding cassette sub-family A member 2	gwas
FTCD	HGNC:3974	ENSG00000160282	O95954	Formimidoyltransferase-cyclodeaminase	gwas
FXR1	HGNC:4023	ENSG00000114416	P51114	RNA-binding protein FXR1	gwas
LINC00501	HGNC:43439	ENSG00000203645		long intergenic non-protein coding RNA 501	gwas
OTX2-AS1	HGNC:43906	ENSG00000248550		OTX2 antisense RNA 1	gwas
TRABD2B	HGNC:44200	ENSG00000269113	A6NFA1	Metalloprotease TIKI2	gwas
LINC01412	HGNC:50704	ENSG00000232606		long intergenic non-protein coding RNA 1412	gwas
MOCS1	HGNC:7190	ENSG00000124615	Q9NZB8	Molybdenum cofactor biosynthesis protein 1	gwas
MSH5	HGNC:7328	ENSG00000204410	O43196	MutS protein homolog 5	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KIT	Mast/stem cell growth factor receptor Kit	Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell develo…
SLC7A10	Asc-type amino acid transporter 1	Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane.
VEGFC	Vascular endothelial growth factor C	Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels.
ZNF134	Zinc finger protein 134	May be involved in transcriptional regulation.
CACNA1H	Voltage-dependent T-type calcium channel subunit alpha-1H	Voltage-sensitive calcium channel that gives rise to T-type calcium currents.
TRPV6	Transient receptor potential cation channel subfamily V member 6	Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine.
OR51Q1	Olfactory receptor 51Q1	Odorant receptor.
PRPF31	U4/U6 small nuclear ribonucleoprotein Prp31	Involved in pre-mRNA splicing as component of the spliceosome.
PDE4DIP	Myomegalin	Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes.
CEBPA	CCAAT/enhancer-binding protein alpha	Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta.
S100A7A	Protein S100-A7A	May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.
CSNK1E	Casein kinase I isoform epsilon	Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates.
NEIL3	Endonuclease 8-like 3	DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA).
CYP2B6	Cytochrome P450 2B6	A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroids.
ARHGAP42	Rho GTPase-activating protein 42	May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle.
RPTN	Repetin	Involved in the cornified cell envelope formation.
LRRC4C	Leucine-rich repeat-containing protein 4C	May promote neurite outgrowth of developing thalamic neurons.
TBL1XR1	F-box-like/WD repeat-containing protein TBL1XR1	F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units.
ABCA2	ATP-binding cassette sub-family A member 2	Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis.
FTCD	Formimidoyltransferase-cyclodeaminase	Folate-dependent enzyme, that displays both transferase and deaminase activity.
FXR1	RNA-binding protein FXR1	mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis.
TRABD2B	Metalloprotease TIKI2	Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins.
MOCS1	Molybdenum cofactor biosynthesis protein 1	Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5’-GTP to cyclic pyranopterin monophosphate (cPMP).
MSH5	MutS protein homolog 5	Involved in DNA mismatch repair and meiotic recombination processes.

Protein-family classification

Druggable: 12 · Difficult: 4 · Unknown: 12 · Druggable fraction: 0.43

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	2	8.0×	0.250
Transporter	2	5.6×	0.250
Complement	1	9.6×	0.332
Kinase	2	2.0×	0.670
Enzyme (other)	3	1.3×	0.812
Scaffold/PPI	2	1.2×	0.812
Antibody/Immunoglobulin	1	1.0×	0.872
GPCR	1	0.8×	0.872
Other/Unknown	12	0.8×	0.942
Transcription factor	2	0.6×	0.942

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KIT	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS
SLC7A10	Transporter	yes		AA/rel_permease1, AminoAcid_Transporter
VEGFC	Other/Unknown	no		PDGF/VEGF_dom, CXCXC_repeat, PD_growth_factor_CS
ZNF134	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Krueppel_C2H2_ZnFinger
CACNA1H	Ion channel	yes		VDCC_T_a1, Ion_trans_dom, Volt_channel_dom_sf
TRPV6	Ion channel	yes		Ankyrin_rpt, Ion_trans_dom, TRPV5/TRPV6
OR51Q1	GPCR	yes		GPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM
PRPF31	Other/Unknown	no		Nop_dom, NOSIC, Prp31_C
PDE4DIP	Other/Unknown	no		Olduvai_dom, Cnn_1N, MT-associated_AKAP9-binding
CEBPA	Other/Unknown	no		bZIP, C/EBP_chordates, C/EBP
S100A7A	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
HLA-V	Other/Unknown	no
CSNK1E	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
NEIL3	Transcription factor	no		Znf_DNA_glyclase/AP_lyase, Znf_RanBP2, Znf_GRF
CYP2B6	Enzyme (other)	yes	1.14.14.1	Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_E_grp-I_CYP2B-like
ARHGAP42	Scaffold/PPI	no		RhoGAP_dom, SH3_domain, PH_domain
RPTN	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
LRRC4C	Antibody/Immunoglobulin	yes		LRRNT, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp
TBL1XR1	Scaffold/PPI	no		WD40_rpt, LisH, WD40/YVTN_repeat-like_dom_sf
ABCA2	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC2_TM
FTCD	Enzyme (other)	yes	2.1.2.5	Formiminotransferase_cat, Cyclodeamin/CycHdrlase, Formiminotransferase_N
FXR1	Complement	yes		KH_dom, KH_dom_type_1, Agenet-like_dom
LINC00501	Other/Unknown	no
OTX2-AS1	Other/Unknown	no
TRABD2B	Other/Unknown	no		TraB/PrgY/GumN_fam, TIKI1/2-like
LINC01412	Other/Unknown	no
MOCS1	Enzyme (other)	yes	4.1.99.22	MoaA_NifB_PqqE_Fe-S-bd_CS, Mopterin_CF_biosynth-C_dom, Elp3/MiaA/NifB-like_rSAM
MSH5	Other/Unknown	no		DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS_core, DNA_mismatch_repair_MutS_clamp

Expression context

Cohort genes with no expression data: 0.

20 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	1
moderate (6-20)	0
broad (>20)	27
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	7
primordial germ cell in gonad	4
calcaneal tendon	3
apex of heart	3
buccal mucosa cell	3
right lobe of liver	3
secondary oocyte	2
stromal cell of endometrium	2
sural nerve	2
ventricular zone	2
gastrocnemius	2
hindlimb stylopod muscle	2
nipple	2
penis	2
sperm	2
liver	2
popliteal artery	2
tibial artery	2
lateral nuclear group of thalamus	1
oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIT	263	broad	marker	lateral nuclear group of thalamus, secondary oocyte, oocyte
SLC7A10	138	broad	yes	omental fat pad, peritoneum, adipose tissue of abdominal region
VEGFC	224	ubiquitous	marker	stromal cell of endometrium, right lobe of thyroid gland, thyroid gland
ZNF134	245	ubiquitous	yes	primordial germ cell in gonad, secondary oocyte, male germ line stem cell (sensu Vertebrata) in testis
CACNA1H	166	broad	marker	lower esophagus muscularis layer, muscle layer of sigmoid colon, lower esophagus
TRPV6	125	tissue_specific	marker	body of pancreas, pancreas, duodenum
OR51Q1	2		yes	sural nerve, colonic epithelium, calcaneal tendon
PRPF31	134	ubiquitous	marker	stromal cell of endometrium, granulocyte, ventricular zone
PDE4DIP	292	ubiquitous	marker	apex of heart, hindlimb stylopod muscle, gastrocnemius
CEBPA	258	ubiquitous	marker	nipple, upper arm skin, penis
S100A7A	70	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, penis, sperm
HLA-V	128	tissue_specific	yes	apex of heart, male germ line stem cell (sensu Vertebrata) in testis, upper lobe of left lung
CSNK1E	275	ubiquitous	marker	cortical plate, ganglionic eminence, left ovary
NEIL3	127	ubiquitous	yes	primordial germ cell in gonad, ventricular zone, male germ line stem cell (sensu Vertebrata) in testis
CYP2B6	106	tissue_specific	marker	right lobe of liver, liver, buccal mucosa cell
ARHGAP42	224	ubiquitous	marker	calcaneal tendon, jejunal mucosa, sural nerve
RPTN	57	tissue_specific	marker	gingiva, gingival epithelium, tongue
LRRC4C	206	broad	marker	middle temporal gyrus, buccal mucosa cell, Brodmann (1909) area 23
TBL1XR1	284	ubiquitous	marker	calcaneal tendon, nipple, tibia
ABCA2	234	ubiquitous	marker	C1 segment of cervical spinal cord, spinal cord, right hemisphere of cerebellum
FTCD	179	tissue_specific	marker	right lobe of liver, liver, adult mammalian kidney
FXR1	299	ubiquitous	marker	sperm, hindlimb stylopod muscle, gastrocnemius
LINC00501	87		marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, right lobe of liver
OTX2-AS1	104	broad	marker	buccal mucosa cell, pigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis
TRABD2B	148	broad	yes	popliteal artery, tibial artery, right coronary artery
LINC01412	117	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, monocyte
MOCS1	245	ubiquitous	marker	apex of heart, popliteal artery, tibial artery
MSH5	134	ubiquitous	yes	right uterine tube, right testis, left testis

Protein interactions among cohort

Intra-cohort edges: 5.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIT	6,087
CEBPA	5,784
FXR1	4,128
TBL1XR1	4,066
PRPF31	3,427
VEGFC	2,803
CSNK1E	2,391
PDE4DIP	2,146
NEIL3	1,957
CYP2B6	1,954

Intra-cohort edges

A	B	Sources
ABCA2	OR51Q1	string_interaction
FTCD	OR51Q1	string_interaction
OR51Q1	PDE4DIP	string_interaction
OR51Q1	RPTN	string_interaction
PDE4DIP	PRPF31	biogrid_interaction, intact

Structural data

PDB: 14 · AlphaFold-only: 10 · No structure: 4

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KIT	P10721	52
PRPF31	Q8WWY3	30
TRPV6	Q9H1D0	24
CYP2B6	P20813	13
CACNA1H	O95180	5
SLC7A10	Q9NS82	4
VEGFC	P49767	4
FXR1	P51114	3
CEBPA	P49715	2
CSNK1E	P49674	2
NEIL3	Q8TAT5	2
S100A7A	Q86SG5	1
LRRC4C	Q9HCJ2	1
TBL1XR1	Q9BZK7	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FTCD	O95954	95.30
OR51Q1	Q8NH59	85.83
MSH5	O43196	82.36
MOCS1	Q9NZB8	79.87
ARHGAP42	A6NI28	75.04
ABCA2	Q9BZC7	71.46
TRABD2B	A6NFA1	70.11
ZNF134	P52741	66.14
PDE4DIP	Q5VU43	58.74
RPTN	Q6XPR3	42.63

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 176. Enrichment computed across 28 evidence-associated genes (20 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 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective Base Excision Repair Associated with NEIL3	1	571.0×	0.021	NEIL3
NEIL3-mediated resolution of ICLs	1	571.0×	0.021	NEIL3
Dasatinib-resistant KIT mutants	1	571.0×	0.021	KIT
Imatinib-resistant KIT mutants	1	571.0×	0.021	KIT
KIT mutants bind TKIs	1	571.0×	0.021	KIT
Masitinib-resistant KIT mutants	1	571.0×	0.021	KIT
Nilotinib-resistant KIT mutants	1	571.0×	0.021	KIT
Regorafenib-resistant KIT mutants	1	571.0×	0.021	KIT
Signaling by kinase domain mutants of KIT	1	571.0×	0.021	KIT
Sunitinib-resistant KIT mutants	1	571.0×	0.021	KIT
Signaling by juxtamembrane domain KIT mutants	1	571.0×	0.021	KIT
Sorafenib-resistant KIT mutants	1	571.0×	0.021	KIT
Drug resistance of KIT mutants	1	571.0×	0.021	KIT
Signaling by extracellular domain mutants of KIT	1	571.0×	0.021	KIT
R-HSA-400253	2	34.6×	0.021	CSNK1E, TBL1XR1
Diseases of Base Excision Repair	1	285.5×	0.038	NEIL3
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	2	21.6×	0.039	CEBPA, TBL1XR1
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	2	19.7×	0.044	CEBPA, TBL1XR1
Adipogenesis	2	15.6×	0.064	CEBPA, TBL1XR1
Epigenetic regulation by WDR5-containing histone modifying complexes	2	15.4×	0.064	CEBPA, TBL1XR1
VEGF ligand-receptor interactions	1	95.2×	0.077	VEGFC
Metal sequestration by antimicrobial proteins	1	81.6×	0.077	S100A7A
Depurination	1	81.6×	0.077	NEIL3
Loss of MECP2 binding ability to the NCoR/SMRT complex	1	81.6×	0.077	TBL1XR1
Molybdenum cofactor biosynthesis	1	81.6×	0.077	MOCS1
WNT mediated activation of DVL	1	71.4×	0.077	CSNK1E
Loss of function of MECP2 in Rett syndrome	1	71.4×	0.077	TBL1XR1
Pervasive developmental disorders	1	71.4×	0.077	TBL1XR1
Disorders of Developmental Biology	1	71.4×	0.077	TBL1XR1
Disorders of Nervous System Development	1	71.4×	0.077	TBL1XR1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 23 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
glycosphingolipid metabolic process	2	209.3×	0.009	KIT, ABCA2
positive regulation of long-term neuronal synaptic plasticity	2	162.8×	0.009	KIT, FXR1
positive regulation of amyloid-beta formation	2	77.1×	0.024	CSNK1E, ABCA2
white fat cell differentiation	2	73.3×	0.024	CEBPA, TBL1XR1
negative regulation of intracellular cholesterol transport	1	732.7×	0.024	ABCA2
D-alanine transmembrane transport	1	732.7×	0.024	SLC7A10
D-serine transmembrane transport	1	732.7×	0.024	SLC7A10
positive regulation of synaptic transmission, glycinergic	1	732.7×	0.024	SLC7A10
negative regulation of phospholipid biosynthetic process	1	732.7×	0.024	ABCA2
ribonucleoprotein complex localization	1	732.7×	0.024	PRPF31
negative regulation of sphingolipid biosynthetic process	1	732.7×	0.024	ABCA2
melanocyte adhesion	1	732.7×	0.024	KIT
positive regulation of pyloric antrum smooth muscle contraction	1	732.7×	0.024	KIT
positive regulation of colon smooth muscle contraction	1	732.7×	0.024	KIT
regulation of protein localization to cell periphery	1	732.7×	0.024	ABCA2
calcium ion import across plasma membrane	2	47.3×	0.024	CACNA1H, TRPV6
response to vitamin B2	1	366.4×	0.031	CEBPA
parathyroid hormone secretion	1	366.4×	0.031	TRPV6
negative regulation of steroid metabolic process	1	366.4×	0.031	ABCA2
response to phenylpropanoid	1	366.4×	0.031	CEBPA
ceramide translocation	1	366.4×	0.031	ABCA2
regulation of post-translational protein modification	1	366.4×	0.031	ABCA2
positive regulation of vascular associated smooth muscle cell differentiation	1	366.4×	0.031	KIT
negative regulation of receptor-mediated endocytosis involved in cholesterol transport	1	366.4×	0.031	ABCA2
negative regulation of Wnt signaling pathway	2	29.9×	0.031	CSNK1E, TRABD2B
positive regulation of low-density lipoprotein particle receptor catabolic process	1	244.2×	0.032	ABCA2
Fc receptor signaling pathway	1	244.2×	0.032	KIT
Kit signaling pathway	1	244.2×	0.032	KIT
ketone metabolic process	1	244.2×	0.032	CYP2B6
melanocyte migration	1	244.2×	0.032	KIT

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Midostaurin	Approved (phase 4)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Cromolyn, Hydroxychloroquine, Masitinib, Palmidrol, Rupatadine.

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 22

Druggability breadth: 9 of 28 evidence-associated genes (32%) 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
KIT	PONATINIB
CACNA1H	PIMOZIDE
TRPV6	ECONAZOLE
CSNK1E	AFATINIB
CYP2B6	PAZOPANIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KIT	99	4
CSNK1E	37	4
CYP2B6	28	4
CACNA1H	10	4
TRPV6	3	4
PRPF31	1	2
SLC7A10	0	0
VEGFC	0	0
ZNF134	0	0
OR51Q1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONATINIB	4	KIT
FEDRATINIB	4	KIT
TIVOZANIB	4	KIT
LENVATINIB	4	KIT
AXITINIB	4	KIT
SORAFENIB	4	KIT
DASATINIB ANHYDROUS	4	KIT
NICLOSAMIDE	4	KIT
IMATINIB MESYLATE	4	KIT
RUXOLITINIB	4	KIT
INFIGRATINIB PHOSPHATE	4	KIT
INFIGRATINIB	4	KIT
REGORAFENIB	4	KIT
ENTRECTINIB	4	KIT
CABOZANTINIB	4	KIT
CERITINIB	4	KIT
VANDETANIB	4	CSNK1E, KIT
NILOTINIB	4	KIT
BOSUTINIB	4	CSNK1E, KIT
BRIGATINIB	4	KIT
PEXIDARTINIB	4	KIT
AVAPRITINIB	4	KIT
RIPRETINIB	4	KIT
PAZOPANIB	4	CYP2B6, KIT
NINTEDANIB	4	CSNK1E, KIT
SUNITINIB	4	CSNK1E, KIT
DASATINIB	4	CSNK1E, KIT
ERLOTINIB	4	CSNK1E, KIT
QUIZARTINIB	4	KIT
CRIZOTINIB	4	KIT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
KIT	2,305	Binding:2242, ADMET:32, Functional:22, Toxicity:9
CYP2B6	861	ADMET:851, Binding:10
CSNK1E	420	Binding:416, ADMET:2, Functional:2
CACNA1H	124	Binding:102, Functional:17, ADMET:4, Toxicity:1
TRPV6	32	Binding:32
PRPF31	6	Binding:6
FXR1	6	Binding:6
TBL1XR1	2	Binding:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
KIT	2.7.10.1	receptor protein-tyrosine kinase
CSNK1E	2.7.11.1	non-specific serine/threonine protein kinase
CYP2B6	1.14.14.1	unspecific monooxygenase
FTCD	2.1.2.5, 4.3.1.4	glutamate formimidoyltransferase, formimidoyltetrahydrofolate cyclodeaminase
MOCS1	4.1.99.22, 4.6.1.17	GTP 3’,8-cyclase, cyclic pyranopterin monophosphate synthase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
KIT	2,305
CACNA1H	124
CSNK1E	420
CYP2B6	861

Pharmacogenomics

Cohort genes with a PharmGKB record: 25; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
CYP2B6	1

Chemical tractability of cohort targets

29 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)
PONATINIB	4	KIT
FEDRATINIB	4	KIT
TIVOZANIB	4	KIT
LENVATINIB	4	KIT
AXITINIB	4	KIT
SORAFENIB	4	KIT
NICLOSAMIDE	4	KIT
IMATINIB MESYLATE	4	KIT
RUXOLITINIB	4	KIT
INFIGRATINIB PHOSPHATE	4	KIT
INFIGRATINIB	4	KIT
REGORAFENIB	4	KIT
ENTRECTINIB	4	KIT
CABOZANTINIB	4	KIT
CERITINIB	4	KIT
VANDETANIB	4	CSNK1E, KIT
NILOTINIB	4	KIT
BOSUTINIB	4	CSNK1E, KIT
BRIGATINIB	4	KIT
PEXIDARTINIB	4	KIT
AVAPRITINIB	4	KIT
RIPRETINIB	4	KIT
PAZOPANIB	4	CYP2B6, KIT
NINTEDANIB	4	CSNK1E, KIT
SUNITINIB	4	CSNK1E, KIT
DASATINIB	4	CSNK1E, KIT
ERLOTINIB	4	CSNK1E, KIT
QUIZARTINIB	4	KIT
CRIZOTINIB	4	KIT

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	KIT, CACNA1H, TRPV6, CSNK1E, CYP2B6
B	Phased (≥1) drug, not yet approved	1	PRPF31
C	Druggable family + PDB, no drug	3	SLC7A10, LRRC4C, FXR1
D	Druggable family + AlphaFold only, no drug	4	OR51Q1, ABCA2, FTCD, MOCS1
E	Difficult family or no structure, no drug	15	VEGFC, ZNF134, PDE4DIP, CEBPA, S100A7A, HLA-V, NEIL3, ARHGAP42, RPTN, TBL1XR1 (+5 more)

Undrugged target profiles

22 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SLC7A10	0	—
VEGFC	0	—
ZNF134	0	—
OR51Q1	0	—
PDE4DIP	0	—
CEBPA	0	—
S100A7A	0	—
HLA-V	0	—
NEIL3	0	—
ARHGAP42	0	—
RPTN	0	—
LRRC4C	0	—
TBL1XR1	2	—
ABCA2	0	—
FTCD	0	—
FXR1	6	—
LINC00501	0	—
OTX2-AS1	0	—
TRABD2B	0	—
LINC01412	0	—
MOCS1	0	—
MSH5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 34.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	23
PHASE2	8
PHASE2/PHASE3	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01333293	PHASE2/PHASE3	COMPLETED	The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients
NCT01481909	PHASE2/PHASE3	COMPLETED	Study on Mastocytosis for Rupatadine Treatment
NCT05084872	PHASE2/PHASE3	UNKNOWN	Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients
NCT05186753	PHASE2	ACTIVE_NOT_RECRUITING	(Summit) A Study to Evaluate the Efficacy and Safety of CGT9486 Versus Placebo in Patients With Indolent or Smoldering Systemic Mastocytosis
NCT00006413	PHASE2	COMPLETED	Stem Cell Transplantation to Treat Systemic Mastocytosis
NCT00255346	PHASE2	COMPLETED	Dasatinib as Therapy for Myeloproliferative Disorders (MPDs)
NCT00831974	PHASE2	COMPLETED	Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis
NCT01266369	PHASE2	COMPLETED	Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation
NCT01384513	PHASE2	COMPLETED	A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies
NCT01701843	PHASE2	TERMINATED	Cromoglicate in Mastocytosis
NCT02478957	PHASE2	COMPLETED	Treatment of Indolent Systemic Mastocytosis With PA101
NCT00044122	Not specified	RECRUITING	Study of Factors Regulating Mast Cell Proliferation
NCT02760238	Not specified	RECRUITING	Myeloproliferative Neoplasms (MPNs) Patient Registry
NCT06432556	Not specified	NOT_YET_RECRUITING	Study of Cellular Heterogeneity in Patients With Mastocytosis
NCT06440148	Not specified	RECRUITING	Relationship Between Circulating Sclerostin and Bone Lesions in Patients With Mastocytosis
NCT06466889	Not specified	RECRUITING	Mastocytosis Registry (of Zurich)
NCT06573723	Not specified	RECRUITING	Institutional Registry of Rare Diseases
NCT07328178	Not specified	RECRUITING	Analysis of the Role of IgE Proteoforms in Health and Disease
NCT00001356	Not specified	COMPLETED	Characteristics of Mast Cells in Mastocytosis
NCT00001756	Not specified	COMPLETED	Study of Mast Cell Precursors
NCT00001760	Not specified	COMPLETED	Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals
NCT00038675	Not specified	COMPLETED	Therapy of HES, PV, Atypical Chronic Myelocytic Leukemia (CML) or Chronic Myelomonocytic Leukemia (CMML), and Mastocytosis With Imatinib Mesylate
NCT00047918	Not specified	COMPLETED	Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
NCT00050193	Not specified	COMPLETED	Cause and Natural Course of Pediatric-Onset Mastocytosis
NCT00336076	Not specified	COMPLETED	Molecular Mechanisms and Diagnosis of Mastocytosis
NCT00557895	Not specified	TERMINATED	Evaluation and Long-Term Follow-Up of Patients With Allergic and Inflammatory Disorders
NCT02450396	Not specified	WITHDRAWN	Pregnancy and Medically Assisted Conception in Rare Diseases
NCT02503800	Not specified	COMPLETED	The Significance of Blood-tryptase and c-Kit Mutation in Insect Venom Immunotherapy
NCT02620254	Not specified	COMPLETED	Mast Cell Connect: A Registry for Patients With Mastocytosis
NCT03340155	Not specified	UNKNOWN	Mechanisms of Action of Photo(Chemo)Therapy in Skin Diseases
NCT03406325	Not specified	COMPLETED	Mast Cell Activation Test in Allergic Disease
NCT04615663	Not specified	UNKNOWN	Assessment of Burden Disease in Patients With Mast Cell Disorders
NCT04978740	Not specified	COMPLETED	Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)
NCT06210698	Not specified	UNKNOWN	Angioedema Biomarker Research Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DASATINIB ANHYDROUS	4	2
CROMOLYN	4	1
HYDROXYCHLOROQUINE	4	1
MASITINIB	3	2
CHEMBL4583196	0	1
CHEMBL4088679	0	1