Platelet-type bleeding disorder 10

Summary

Platelet-type bleeding disorder 10 (MONDO:0012031) is a disease caused by CD36 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: CD36 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 142

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	platelet-type bleeding disorder 10
Mondo ID	MONDO:0012031
MeSH	C564245
OMIM	608404
DOID	DOID:0111046
UMLS	C1842090
MedGen	374856
GARD	0024837
Is cancer (heuristic)	no

Also known as: BDPLT10 · CD36 deficiency · CD36 inherited bleeding disorder, platelet-type · inherited bleeding disorder, platelet-type caused by mutation in CD36 · platelet-type bleeding disorder 10

Data availability: 142 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › hemorrhagic disease › inherited bleeding disorder, platelet-type › platelet-type bleeding disorder 10

Related subtypes (27): gray platelet syndrome, primary release disorder of platelets, platelet-type von Willebrand disease, platelet-type bleeding disorder 16, platelet-type bleeding disorder 17, Ehlers-Danlos syndrome, fibronectinemic type, Bernard-Soulier syndrome, Scott syndrome, congenital thrombotic thrombocytopenic purpura, Quebec platelet disorder, platelet-type bleeding disorder 12, platelet-type bleeding disorder 8, platelet-type bleeding disorder 14, platelet-type bleeding disorder 9, platelet-type bleeding disorder 11, platelet-type bleeding disorder 15, platelet-type bleeding disorder 18, platelet-type bleeding disorder 19, platelet-type bleeding disorder 20, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, bleeding disorder, platelet-type, 24, bleeding disorder, platelet-type, 22, bleeding disorder, platelet-type, 21, Glanzmann thrombasthenia, bleeding diathesis due to thromboxane synthesis deficiency, bleeding disorder, platelet-type, 25

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

142 retrieved; paginated sample, class counts are floors:

74 uncertain significance, 24 conflicting classifications of pathogenicity, 22 likely pathogenic, 7 pathogenic/likely pathogenic, 7 pathogenic, 4 benign, 1 pathogenic; risk factor, 1 pathogenic; protective, 1 benign/likely benign, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1012319	NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1301547	NM_001001548.3(CD36):c.667_671dup (p.Ala225fs)	CD36	Pathogenic	criteria provided, single submitter
1319386	NM_001001548.3(CD36):c.1195del (p.Ile399fs)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1322041	NM_001001548.3(CD36):c.638_639del (p.Lys213fs)	CD36	Pathogenic	criteria provided, single submitter
1322043	NM_001001548.3(CD36):c.729C>A (p.Cys243Ter)	CD36	Pathogenic	criteria provided, multiple submitters, no conflicts
1324033	NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
13537	CD36, G1439C, 1-BP DEL, 1444A	CD36	Pathogenic; risk factor	no assertion criteria provided
13538	NM_001001547.2(CD36):c.120+399TG[12]	CD36	Pathogenic; protective	no assertion criteria provided
13540	NM_001001548.3(CD36):c.760T>C (p.Phe254Leu)	CD36	Pathogenic	no assertion criteria provided
13541	NM_001001548.3(CD36):c.1237A>C (p.Ile413Leu)	CD36	Pathogenic	no assertion criteria provided
225309	NM_001001548.3(CD36):c.332_333del (p.Thr111fs)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
225310	NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2577330	NM_001001548.3(CD36):c.667_671del (p.Lys223fs)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3779488	NM_001001548.3(CD36):c.430-1G>C	CD36	Pathogenic	criteria provided, single submitter
587500	NM_001001548.3(CD36):c.784dup (p.Gln262fs)	CD36	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
987919	NM_001001547.2:c.(?-183)(120_?)del	CD36	Pathogenic	criteria provided, single submitter
1339012	NM_001001548.3(CD36):c.971C>G (p.Ser324Ter)	CD36	Likely pathogenic	criteria provided, single submitter
13539	NM_001001548.3(CD36):c.949dup (p.Ile317fs)	CD36	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2438914	NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)	CD36	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2579140	NM_001001548.3(CD36):c.511del (p.Gln171fs)	CD36	Likely pathogenic	criteria provided, single submitter
2627047	NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)	CD36	Likely pathogenic	no assertion criteria provided
3029091	NM_001001548.3(CD36):c.378_381dup (p.Val128fs)	CD36	Likely pathogenic	criteria provided, single submitter
3065439	NM_001001548.3(CD36):c.1206_1230dup (p.Val411fs)	CD36	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3065787	NM_001001548.3(CD36):c.588del (p.Thr197fs)	CD36	Likely pathogenic	criteria provided, single submitter
3068127	NM_001001548.3(CD36):c.107del (p.Lys36fs)	CD36	Likely pathogenic	criteria provided, single submitter
3242112	NM_001001548.3(CD36):c.1126-1G>A	CD36	Likely pathogenic	criteria provided, single submitter
3351515	NM_001001548.3(CD36):c.429+1G>A	CD36	Likely pathogenic	criteria provided, single submitter
3362816	NM_001001548.3(CD36):c.1254+1G>C	CD36	Likely pathogenic	criteria provided, single submitter
3382270	NM_001001548.3(CD36):c.1313_1316dup (p.Leu440fs)	CD36	Likely pathogenic	criteria provided, single submitter
3779485	NM_001001548.3(CD36):c.1199+2T>C	CD36	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · 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
CD36	Strong	Autosomal recessive	platelet-type bleeding disorder 10	2

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
CD36	HGNC:1663	ENSG00000135218	P16671	Platelet glycoprotein 4	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CD36	Platelet glycoprotein 4	Multifunctional glycoprotein that acts as a receptor for a broad range of ligands.

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)
CD36	Other/Unknown	no		CD36_fam, CD36/SCARB1/SNMP1

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
adipose tissue of abdominal region	1
monocyte	1
omental fat pad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CD36	252	broad	marker	adipose tissue of abdominal region, omental fat pad, monocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CD36	5,268

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CD36	P16671	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 47. 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
Free fatty acids regulate insulin secretion	1	3806.7×	0.006	CD36
Intracellular metabolism of fatty acids regulates insulin secretion	1	3806.7×	0.006	CD36
Cross-presentation of particulate exogenous antigens (phagosomes)	1	1427.5×	0.009	CD36
Scavenging by Class B Receptors	1	1038.2×	0.009	CD36
Diseases of Immune System	1	878.5×	0.009	CD36
Diseases associated with the TLR signaling cascade	1	878.5×	0.009	CD36
MyD88 deficiency (TLR2/4)	1	601.0×	0.009	CD36
IRAK4 deficiency (TLR2/4)	1	571.0×	0.009	CD36
Binding and Uptake of Ligands by Scavenger Receptors	1	543.8×	0.009	CD36
Regulation of TLR by endogenous ligand	1	496.5×	0.009	CD36
Antigen processing-Cross presentation	1	317.2×	0.013	CD36
Regulation of insulin secretion	1	219.6×	0.014	CD36
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1	215.5×	0.014	CD36
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	1	196.9×	0.014	CD36
Integration of energy metabolism	1	175.7×	0.014	CD36
Toll Like Receptor TLR6:TLR2 Cascade	1	175.7×	0.014	CD36
Toll Like Receptor 2 (TLR2) Cascade	1	173.0×	0.014	CD36
Toll Like Receptor TLR1:TLR2 Cascade	1	167.9×	0.014	CD36
Response to elevated platelet cytosolic Ca2+	1	163.1×	0.014	CD36
Adipogenesis	1	156.4×	0.014	CD36
Epigenetic regulation by WDR5-containing histone modifying complexes	1	154.3×	0.014	CD36
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1	152.3×	0.014	CD36
Regulation of lipid metabolism by PPARalpha	1	141.0×	0.014	CD36
Toll Like Receptor 4 (TLR4) Cascade	1	131.3×	0.014	CD36
ER-Phagosome pathway	1	129.8×	0.014	CD36
Transcriptional regulation of white adipocyte differentiation	1	129.8×	0.014	CD36
Toll-like Receptor Cascades	1	124.1×	0.014	CD36
Platelet activation, signaling and aggregation	1	105.7×	0.016	CD36
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.016	CD36
PPARA activates gene expression	1	94.4×	0.017	CD36

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
short-chain fatty acid transport	1	16852.0×	0.002	CD36
oxidised low-density lipoprotein particle clearance	1	16852.0×	0.002	CD36
positive regulation of blood microparticle formation	1	8426.0×	0.002	CD36
low-density lipoprotein particle mediated signaling	1	5617.3×	0.002	CD36
response to linoleic acid	1	5617.3×	0.002	CD36
regulation of action potential	1	5617.3×	0.002	CD36
long-chain fatty acid import across plasma membrane	1	4213.0×	0.002	CD36
regulation of lipopolysaccharide-mediated signaling pathway	1	4213.0×	0.002	CD36
triglyceride transport	1	4213.0×	0.002	CD36
plasma lipoprotein particle clearance	1	4213.0×	0.002	CD36
cellular response to diacyl bacterial lipopeptide	1	4213.0×	0.002	CD36
lipid transport across blood-brain barrier	1	3370.4×	0.002	CD36
response to stilbenoid	1	2808.7×	0.002	CD36
cholesterol import	1	2808.7×	0.002	CD36
regulation of removal of superoxide radicals	1	2808.7×	0.002	CD36
production of molecular mediator involved in inflammatory response	1	2407.4×	0.002	CD36
positive regulation of cholesterol storage	1	2407.4×	0.002	CD36
response to lipid	1	2407.4×	0.002	CD36
phagocytosis, recognition	1	2106.5×	0.002	CD36
cellular response to hydroperoxide	1	2106.5×	0.002	CD36
amyloid-beta clearance by cellular catabolic process	1	2106.5×	0.002	CD36
long-chain fatty acid import into cell	1	1685.2×	0.002	CD36
regulation of toll-like receptor signaling pathway	1	1532.0×	0.002	CD36
nitric oxide-cGMP-mediated signaling	1	1532.0×	0.002	CD36
cellular response to lipoteichoic acid	1	1532.0×	0.002	CD36
intestinal cholesterol absorption	1	1404.3×	0.002	CD36
cellular response to oxidised low-density lipoprotein particle stimulus	1	1404.3×	0.002	CD36
positive regulation of phagocytosis, engulfment	1	1296.3×	0.002	CD36
intestinal absorption	1	1203.7×	0.002	CD36
long-chain fatty acid transport	1	1123.5×	0.002	CD36

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
CD36	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
CD36	6	Binding:5, 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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CD36

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)
CD36	6	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.