Fetomaternal alloimmune thrombocytopenia 3

Summary

Fetomaternal alloimmune thrombocytopenia 3 (MONDO:0980725) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	fetomaternal alloimmune thrombocytopenia 3
Mondo ID	MONDO:0980725
OMIM	621267
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › hemorrhagic disease › fetal and neonatal alloimmune thrombocytopenia › fetomaternal alloimmune thrombocytopenia 3

Related subtypes (2): fetomaternal alloimmune thrombocytopenia 1, fetomaternal alloimmune thrombocytopenia 2

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 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
4072837	E534K	ITGA2	Benign	no assertion criteria provided
4072838	ITGA2, THR828MET	ITGA2	Benign	no assertion criteria provided

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
ITGA2	Orphanet:853	Fetal and neonatal alloimmune thrombocytopenia

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
ITGA2	HGNC:6137	ENSG00000164171	P17301	Integrin alpha-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ITGA2	Integrin alpha-2	Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ITGA2	Antibody/Immunoglobulin	yes		Integrin_alpha, VWF_A, FG-GAP

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
epithelium of nasopharynx	1
nasopharynx	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ITGA2	240	ubiquitous	marker	ventricular zone, epithelium of nasopharynx, nasopharynx

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ITGA2	2,578

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ITGA2	P17301	17

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 21. 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
CHL1 interactions	1	1268.9×	0.008	ITGA2
Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition	1	878.5×	0.008	ITGA2
Platelet Adhesion to exposed collagen	1	671.8×	0.008	ITGA2
MET promotes cell motility	1	601.0×	0.008	ITGA2
Syndecan interactions	1	423.0×	0.008	ITGA2
Laminin interactions	1	380.7×	0.008	ITGA2
MET activates PTK2 signaling	1	380.7×	0.008	ITGA2
Signaling by MET	1	317.2×	0.008	ITGA2
MITF-M-dependent gene expression	1	181.3×	0.013	ITGA2
Non-integrin membrane-ECM interactions	1	154.3×	0.013	ITGA2
ECM proteoglycans	1	150.3×	0.013	ITGA2
Integrin cell surface interactions	1	134.3×	0.013	ITGA2
L1CAM interactions	1	120.2×	0.013	ITGA2
MITF-M-regulated melanocyte development	1	114.2×	0.013	ITGA2
Extracellular matrix organization	1	63.1×	0.022	ITGA2
Signaling by Receptor Tyrosine Kinases	1	51.7×	0.025	ITGA2
Axon guidance	1	45.1×	0.027	ITGA2
Nervous system development	1	42.9×	0.027	ITGA2
Hemostasis	1	36.0×	0.031	ITGA2
Developmental Biology	1	14.5×	0.073	ITGA2
Signal Transduction	1	10.2×	0.098	ITGA2

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
hypotonic response	1	8426.0×	0.002	ITGA2
response to L-ascorbic acid	1	4213.0×	0.002	ITGA2
collagen-activated signaling pathway	1	4213.0×	0.002	ITGA2
response to parathyroid hormone	1	4213.0×	0.002	ITGA2
positive regulation of cell projection organization	1	3370.4×	0.002	ITGA2
substrate-dependent cell migration	1	2407.4×	0.002	ITGA2
positive regulation of transmission of nerve impulse	1	2407.4×	0.002	ITGA2
response to amine	1	1872.4×	0.002	ITGA2
mesodermal cell differentiation	1	1532.0×	0.002	ITGA2
skin morphogenesis	1	1404.3×	0.002	ITGA2
positive regulation of positive chemotaxis	1	1404.3×	0.002	ITGA2
positive regulation of phagocytosis, engulfment	1	1296.3×	0.002	ITGA2
hepatocyte differentiation	1	1203.7×	0.002	ITGA2
detection of mechanical stimulus involved in sensory perception of pain	1	1123.5×	0.002	ITGA2
positive regulation of leukocyte migration	1	991.3×	0.002	ITGA2
positive regulation of smooth muscle cell migration	1	991.3×	0.002	ITGA2
positive regulation of smooth muscle contraction	1	936.2×	0.002	ITGA2
cell-substrate adhesion	1	766.0×	0.003	ITGA2
cell adhesion mediated by integrin	1	674.1×	0.003	ITGA2
mammary gland development	1	648.1×	0.003	ITGA2
positive regulation of collagen biosynthetic process	1	648.1×	0.003	ITGA2
response to muscle activity	1	581.1×	0.003	ITGA2
focal adhesion assembly	1	526.6×	0.003	ITGA2
positive regulation of epithelial cell migration	1	411.0×	0.004	ITGA2
cellular response to estradiol stimulus	1	411.0×	0.004	ITGA2
positive regulation of smooth muscle cell proliferation	1	330.4×	0.005	ITGA2
positive regulation of cell adhesion	1	271.8×	0.005	ITGA2
positive regulation of translation	1	227.7×	0.006	ITGA2
cellular response to mechanical stimulus	1	216.1×	0.006	ITGA2
female pregnancy	1	210.7×	0.006	ITGA2

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ITGA2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
ITGA2	21	Binding:20, Functional:1

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	1	ITGA2
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
ITGA2	21	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.