factor XIII, A subunit, deficiency of

Summary

factor XIII, A subunit, deficiency of (MONDO:0013187) is a disease caused by F13A1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: F13A1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 131

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	factor XIII, A subunit, deficiency of
Mondo ID	MONDO:0013187
MeSH	C567691
OMIM	613225
SNOMED CT	439455002
UMLS	C2750514
MedGen	442497
GARD	0015633
Is cancer (heuristic)	no

Also known as: factor XIII, A subunit, deficiency of · factor XIIIA deficiency · hereditary factor XIII A subunit deficiency · hereditary factor XIII alpha subunit deficiency · hereditary factor XIII type II deficiency

Data availability: 131 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease › coagulation protein disease › factor XIII deficiency › congenital factor XIII deficiency › factor XIII, A subunit, deficiency of

Related subtypes (1): factor XIII, b subunit, deficiency of

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

131 retrieved; paginated sample, class counts are floors:

58 uncertain significance, 23 pathogenic, 15 likely pathogenic, 14 benign, 14 conflicting classifications of pathogenicity, 3 likely benign, 2 pathogenic/likely pathogenic, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1322859	NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs)	F13A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1526251	NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs)	F13A1	Pathogenic	criteria provided, single submitter
16523	NM_000129.4(F13A1):c.131_132del	F13A1	Pathogenic	no assertion criteria provided
16524	NM_000129.4(F13A1):c.2045G>A (p.Arg682His)	F13A1	Pathogenic	criteria provided, single submitter
16525	NM_000129.4(F13A1):c.514C>T (p.Arg172Ter)	F13A1	Pathogenic	no assertion criteria provided
16526	NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter)	F13A1	Pathogenic	criteria provided, single submitter
16527	NM_000129.4(F13A1):c.183C>A (p.Asn61Lys)	F13A1	Pathogenic	no assertion criteria provided
16529	NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg)	F13A1	Pathogenic	no assertion criteria provided
16530	NM_000129.4(F13A1):c.1243G>T (p.Val415Phe)	F13A1	Pathogenic	no assertion criteria provided
16531	NM_000129.4(F13A1):c.782G>A (p.Arg261His)	F13A1	Pathogenic	criteria provided, single submitter
16533	NM_000129.4(F13A1):c.980G>A (p.Arg327Gln)	F13A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16534	NM_000129.4(F13A1):c.949G>T (p.Val317Phe)	F13A1	Pathogenic	no assertion criteria provided
16535	NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys)	F13A1	Pathogenic	no assertion criteria provided
16536	NM_000129.4(F13A1):c.1201dup (p.Gln401fs)	F13A1	Pathogenic	no assertion criteria provided
16537	NM_000129.4(F13A1):c.691-1G>A	F13A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16539	NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter)	F13A1	Pathogenic	criteria provided, multiple submitters, no conflicts
16540	NM_000129.4(F13A1):c.728T>C (p.Met243Thr)	F13A1	Pathogenic	no assertion criteria provided
1809752	NM_000129.4(F13A1):c.27del (p.Phe9fs)	F13A1	Pathogenic	criteria provided, multiple submitters, no conflicts
2683978	NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)	F13A1	Pathogenic	criteria provided, single submitter
29694	NM_000129.4(F13A1):c.603_606del (p.Arg202fs)	F13A1	Pathogenic	criteria provided, single submitter
29695	NM_000129.4(F13A1):c.-19+12=	F13A1	Pathogenic	no assertion criteria provided
3336542	NC_000006.11:g.(6146006_6152045)_(6182375_6196029)del	F13A1	Pathogenic	criteria provided, single submitter
3594056	NM_000129.4(F13A1):c.523C>T (p.Arg175Ter)	F13A1	Pathogenic	criteria provided, single submitter
617620	NM_000129.4(F13A1):c.1817del (p.His606fs)	F13A1	Pathogenic	no assertion criteria provided
872489	NM_000129.4(F13A1):c.798+2T>C	F13A1	Pathogenic	criteria provided, single submitter
16538	NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp)	F13A1	Likely pathogenic	criteria provided, single submitter
2429375	NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)	F13A1	Likely pathogenic	criteria provided, single submitter
2440190	NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)	F13A1	Likely pathogenic	criteria provided, single submitter
2572103	NM_000129.4(F13A1):c.1112+1G>A	F13A1	Likely pathogenic	criteria provided, single submitter
2572108	NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)	F13A1	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
F13A1	Definitive	Autosomal recessive	factor XIII, A subunit, deficiency of	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
F13A1	Orphanet:331	Congenital factor XIII deficiency

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
F13A1	HGNC:3531	ENSG00000124491	P00488	Coagulation factor XIII A chain	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
F13A1	Coagulation factor XIII A chain	Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot.

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)
F13A1	Antibody/Immunoglobulin	yes	2.3.2.13	Transglutaminase_N, Transglutaminase-like, Transglutaminase_C

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
monocyte	1
mononuclear cell	1
pericardium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
F13A1	261	broad	marker	monocyte, mononuclear cell, pericardium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
F13A1	2,346

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
F13A1	P00488	15

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Fibrin formation	1	878.5×	0.003	F13A1
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.011	F13A1
Platelet degranulation	1	87.8×	0.011	F13A1

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
blood coagulation, fibrin clot formation	1	1685.2×	0.001	F13A1
peptide cross-linking	1	1404.3×	0.001	F13A1
blood coagulation	1	173.7×	0.006	F13A1

Therapeutics

Drug target analysis

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

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
F13A1	1	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
SPERMIDINE	3	F13A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
F13A1	42	Binding:42

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
F13A1	2.3.2.13	protein-glutamine gamma-glutamyltransferase

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

1 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.

Compound	Max phase	Cohort target (bioactivity)
SPERMIDINE	3	F13A1

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	1	F13A1
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.