Thrombocytopenia 7

Summary

Thrombocytopenia 7 (MONDO:0030867) is a disease caused by IKZF5 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: IKZF5 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thrombocytopenia 7
Mondo ID	MONDO:0030867
OMIM	619130
UMLS	C5436874
MedGen	1768257
GARD	0018492
Is cancer (heuristic)	no

Also known as: THC7 · thrombocytopenia 7 · Thrombocytopenia, Autosomal Dominant, 7

Data availability: 9 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood platelet disease › thrombocytopenia › inherited thrombocytopenia › thrombocytopenia 7

Related subtypes (20): thrombocytopenia 2, thrombocytopenia, cyclic, thrombocytopenia 3, congenital thrombotic thrombocytopenic purpura, thrombocytopenia, X-linked, with or without dyserythropoietic anemia, thrombocytopenia 1, thrombocytopenia 4, thrombocytopenia 5, autosomal dominant macrothrombocytopenia, isolated delta-storage pool disease, syndromic constitutional thrombocytopenia, alpha granule disease, macrothrombocytopenia, isolated, congenital autosomal recessive small-platelet thrombocytopenia, congenital amegakaryocytic thrombocytopenia, thrombocytopenia 9, thrombocytopenia 10, thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, thrombocytopenia 12 with or without myopathy, thrombocytopenia 13, syndromic

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

9 retrieved; paginated sample, class counts are floors:

3 pathogenic/likely pathogenic, 2 pathogenic, 2 likely pathogenic, 2 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1684455	NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr)	IKZF5	Pathogenic	no assertion criteria provided
1684456	NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg)	IKZF5	Pathogenic	no assertion criteria provided
1684457	NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu)	IKZF5	Pathogenic/Likely pathogenic	no assertion criteria provided
1684458	NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp)	IKZF5	Pathogenic/Likely pathogenic	no assertion criteria provided
989447	NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro)	IKZF5	Pathogenic/Likely pathogenic	no assertion criteria provided
1703863	NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe)	IKZF5	Likely pathogenic	criteria provided, single submitter
2671954	NM_001372123.1(IKZF5):c.296_300delinsTGTGGATT (p.Glu99_His100delinsValTrpIle)	IKZF5	Likely pathogenic	criteria provided, single submitter
2444044	NM_001372123.1(IKZF5):c.459G>C (p.Leu153Phe)	IKZF5	Uncertain significance	criteria provided, single submitter
2572151	NM_001372123.1(IKZF5):c.1072C>A (p.Gln358Lys)	IKZF5	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · 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
IKZF5	Strong	Autosomal dominant	thrombocytopenia 7	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IKZF5	Orphanet:168629	Autosomal thrombocytopenia with normal platelets

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
IKZF5	HGNC:14283	ENSG00000095574	Q9H5V7	Zinc finger protein Pegasus	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IKZF5	Zinc finger protein Pegasus	Transcriptional repressor that binds the core 5’GNNTGTNG-3’ DNA consensus sequence.

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IKZF5	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF

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
C1 segment of cervical spinal cord	1
body of pancreas	1
endothelial cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IKZF5	262	ubiquitous	marker	endothelial cell, body of pancreas, C1 segment of cervical spinal cord

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IKZF5	965

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
IKZF5	Q9H5V7	54.37

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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 transcription by RNA polymerase II	1	17.7×	0.086	IKZF5
regulation of transcription by RNA polymerase II	1	11.7×	0.086	IKZF5

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
IKZF5	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	IKZF5

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)
IKZF5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.