Paris-Trousseau thrombocytopenia

Summary

Paris-Trousseau thrombocytopenia (MONDO:0008557) is a disease with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

2 HPO clinical features (Orphanet curated; top 2 by frequency):

HPO ID	Term	Frequency
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001626	Abnormality of the cardiovascular system	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Paris-Trousseau thrombocytopenia
Mondo ID	MONDO:0008557
OMIM	188025
Orphanet	851
ICD-11	1441183910
UMLS	C1956093
MedGen	365037
GARD	0004224
Is cancer (heuristic)	no

Also known as: Paris-Trousseau syndrome · TCPT · thrombocytopenia Paris-Trousseau type · thrombocytopenia, Paris-TROUSSEAU type · thrombocytopenia, Paris-Trousseau type, Isolated cases

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal deletion › partial deletion of chromosome 11 › partial deletion of the long arm of chromosome 11 › Paris-Trousseau thrombocytopenia

Related subtypes (4): Jacobsen syndrome, otodental syndrome, 11q22.2q22.3 microdeletion syndrome, oculootodental 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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
812909	Single allele	CDON	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CDON	Orphanet:220386	Semilobar holoprosencephaly
CDON	Orphanet:280195	Septopreoptic holoprosencephaly
CDON	Orphanet:280200	Microform holoprosencephaly
CDON	Orphanet:93924	Lobar holoprosencephaly
CDON	Orphanet:93925	Alobar holoprosencephaly
CDON	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
CDON	Orphanet:95496	Pituitary stalk interruption syndrome

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
CDON	HGNC:17104	ENSG00000064309	Q4KMG0	Cell adhesion molecule-related/down-regulated by oncogenes	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDON	Cell adhesion molecule-related/down-regulated by oncogenes	Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells.

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)
CDON	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom

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
calcaneal tendon	1
ganglionic eminence	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDON	222	ubiquitous	marker	ventricular zone, ganglionic eminence, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDON	1,065

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CDON	Q4KMG0	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. 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
Ligand-receptor interactions	1	1427.5×	0.005	CDON
Activation of SMO	1	634.4×	0.006	CDON
Myogenesis	1	380.7×	0.006	CDON
Signaling by Hedgehog	1	184.2×	0.009	CDON
Hedgehog ‘on’ state	1	158.6×	0.009	CDON
Developmental Biology	1	14.5×	0.081	CDON
Signal Transduction	1	10.2×	0.098	CDON

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
positive regulation of skeletal muscle tissue development	1	2808.7×	0.002	CDON
embryonic retina morphogenesis in camera-type eye	1	2407.4×	0.002	CDON
embryonic body morphogenesis	1	2106.5×	0.002	CDON
skeletal muscle satellite cell differentiation	1	2106.5×	0.002	CDON
positive regulation of small GTPase mediated signal transduction	1	2106.5×	0.002	CDON
negative regulation of biomineral tissue development	1	1532.0×	0.002	CDON
cellular response to vitamin D	1	1532.0×	0.002	CDON
myoblast fusion	1	601.9×	0.004	CDON
central nervous system neuron differentiation	1	601.9×	0.004	CDON
positive regulation of neuroblast proliferation	1	581.1×	0.004	CDON
cell fate specification	1	526.6×	0.004	CDON
lens development in camera-type eye	1	374.5×	0.005	CDON
neuroblast proliferation	1	366.4×	0.005	CDON
cerebral cortex development	1	205.5×	0.007	CDON
positive regulation of neuron differentiation	1	198.3×	0.007	CDON
smoothened signaling pathway	1	181.2×	0.007	CDON
anterior/posterior pattern specification	1	181.2×	0.007	CDON
negative regulation of canonical Wnt signaling pathway	1	117.8×	0.011	CDON
cell-cell adhesion	1	101.5×	0.012	CDON
positive regulation of MAPK cascade	1	80.6×	0.014	CDON
nervous system development	1	45.9×	0.024	CDON
cell adhesion	1	37.5×	0.028	CDON
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	CDON

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
CDON	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	1	CDON
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)
CDON	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.