Autoimmune thrombocytopenia

Summary

Autoimmune thrombocytopenia (MONDO:0019098) is a disease with 1 cohort gene and 8 clinical trials. Top therapeutic interventions include eltrombopag, danazol, and tretinoin.

At a glance

• Cohort genes: 1
• ClinVar variants: 2
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autoimmune thrombocytopenia
Mondo ID	MONDO:0019098
Orphanet	71203
SNOMED CT	128091003
UMLS	C0242584
MedGen	116621
GARD	0018906
MedDRA	10050245
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood platelet disease › thrombocytopenia › autoimmune thrombocytopenia

Related subtypes (5): acquired thrombocytopenia, thrombocytopenia due to immune destruction, neonatal thrombocytopenia, thrombocytopenic purpura, inherited thrombocytopenia

Subtypes (2): autoimmune thrombocytopenic purpura, Evans 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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
977213	NM_003745.2(SOCS1):c.24del (p.Ala9fs)	LOC130058479	Pathogenic	criteria provided, single submitter
977214	NM_003745.2(SOCS1):c.476_480dup (p.Met161fs)	SOCS1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SOCS1	Orphanet:619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

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
SOCS1	HGNC:19383	ENSG00000185338	O15524	Suppressor of cytokine signaling 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SOCS1	Suppressor of cytokine signaling 1	Essential negative regulator of type I and type II interferon (IFN) signaling, as well as that of other cytokines, including IL2, IL4, IL6 and leukemia inhibitory factor (LIF).

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
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SOCS1	Scaffold/PPI	no		SH2, SOCS_box, SOCS1_SH2

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
endocervix	1
sperm	1
type B pancreatic cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SOCS1	211	ubiquitous	marker	type B pancreatic cell, sperm, endocervix

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SOCS1	3,435

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SOCS1	O15524	84.20

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 27. 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
Regulation of IFNG signaling	1	815.7×	0.010	SOCS1
Regulation of KIT signaling	1	601.0×	0.010	SOCS1
Signaling by CSF3 (G-CSF)	1	571.0×	0.010	SOCS1
Growth hormone receptor signaling	1	475.8×	0.010	SOCS1
Regulation of IFNA/IFNB signaling	1	439.2×	0.010	SOCS1
Inactivation of CSF3 (G-CSF) signaling	1	439.2×	0.010	SOCS1
Interleukin-7 signaling	1	317.2×	0.012	SOCS1
Signaling by SCF-KIT	1	248.3×	0.013	SOCS1
Toll Like Receptor TLR6:TLR2 Cascade	1	175.7×	0.013	SOCS1
Toll Like Receptor 2 (TLR2) Cascade	1	173.0×	0.013	SOCS1
Toll Like Receptor TLR1:TLR2 Cascade	1	167.9×	0.013	SOCS1
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1	152.3×	0.013	SOCS1
Interferon alpha/beta signaling	1	152.3×	0.013	SOCS1
Toll Like Receptor 4 (TLR4) Cascade	1	131.3×	0.013	SOCS1
Interferon gamma signaling	1	125.5×	0.013	SOCS1
Toll-like Receptor Cascades	1	124.1×	0.013	SOCS1
Interferon Signaling	1	120.2×	0.013	SOCS1
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.015	SOCS1
Class I MHC mediated antigen processing & presentation	1	70.1×	0.020	SOCS1
Signaling by Interleukins	1	64.2×	0.021	SOCS1
Signaling by Receptor Tyrosine Kinases	1	51.7×	0.025	SOCS1
Cytokine Signaling in Immune system	1	40.8×	0.030	SOCS1
Antigen processing: Ubiquitination & Proteasome degradation	1	37.2×	0.032	SOCS1
Adaptive Immune System	1	29.8×	0.038	SOCS1
Innate Immune System	1	25.5×	0.042	SOCS1
Immune System	1	13.0×	0.080	SOCS1
Signal Transduction	1	10.2×	0.098	SOCS1

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
negative regulation of CD8-positive, alpha-beta T cell differentiation	1	5617.3×	0.002	SOCS1
positive regulation of CD4-positive, alpha-beta T cell differentiation	1	2808.7×	0.002	SOCS1
positive regulation of regulatory T cell differentiation	1	936.2×	0.004	SOCS1
negative regulation of receptor signaling pathway via JAK-STAT	1	887.0×	0.004	SOCS1
macrophage differentiation	1	468.1×	0.006	SOCS1
negative regulation of insulin receptor signaling pathway	1	374.5×	0.006	SOCS1
cellular response to amino acid stimulus	1	306.4×	0.006	SOCS1
cell surface receptor signaling pathway via JAK-STAT	1	290.6×	0.006	SOCS1
regulation of cytokine production	1	247.8×	0.006	SOCS1
fat cell differentiation	1	181.2×	0.007	SOCS1
cytokine-mediated signaling pathway	1	130.6×	0.009	SOCS1
protein ubiquitination	1	41.4×	0.026	SOCS1
intracellular signal transduction	1	38.1×	0.026	SOCS1

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
SOCS1	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	SOCS1

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)
SOCS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	2
PHASE1	2
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04070599	PHASE3	COMPLETED	Initial Hemato-immunological Profile on the Evolution of Immunological Thrombopenic Purpura.
NCT01610180	PHASE2	COMPLETED	Eltrombopag for the Treatment of Immune ThrombocytoPenia (ITP) Secondary to Chronic Lymphoproliferative Disorders (LPDs)
NCT01667263	PHASE2	COMPLETED	The Combination of ATRA and Danazol as Second-line Treatment in Adult Immune Thrombocytopenia
NCT06534021	PHASE1	RECRUITING	IASO-782 in Autoimmune Hematological Diseases
NCT06826430	PHASE1	RECRUITING	Inaticabtagene Autoleucel Injection in the Treatment of Refractory Systemic Lupus Erythematosus-related Immune Thrombocytopenia
NCT04902807	Not specified	RECRUITING	Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
NCT01101295	Not specified	UNKNOWN	The ITP-RITUX Cohort: Rituximab in Immune ThrombocytoPenia.
NCT03421184	Not specified	COMPLETED	Dietary Phytoestrogens as Risk Factors for Systemic Lupus Erythematosus

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ELTROMBOPAG	4	3
DANAZOL	4	1
TRETINOIN	4	1