Angioedema, hereditary, 5

Summary

Angioedema, hereditary, 5 (MONDO:0030293) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	angioedema, hereditary, 5
Mondo ID	MONDO:0030293
OMIM	619361
UMLS	C5543508
MedGen	1780904
GARD	0025529
Is cancer (heuristic)	no

Also known as: angioedema, hereditary, 5 · HAE5

Data availability: 1 ClinVar variant · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › urticaria › angioedema › hereditary angioedema › angioedema, hereditary, 5

Related subtypes (9): hereditary angioedema type 3, angioedema, hereditary, 6, angioedema, hereditary, 4, angioedema, hereditary, 7, angioedema, hereditary, 8, hereditary angioedema with C1Inh deficiency, PLG-related hereditary angioedema with normal C1inh, hereditary angioedema with normal C1inh not related to F12 or PLG variant, hereditary angioedema with normal C1Inh

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 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1162304	NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser)	ANGPT1	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
ANGPT1	Moderate	Autosomal dominant	angioedema, hereditary, 5	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ANGPT1	Orphanet:599418	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

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
ANGPT1	HGNC:484	ENSG00000154188	Q15389	Angiopoietin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ANGPT1	Angiopoietin-1	Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation.

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)
ANGPT1	Other/Unknown	no		Fibrinogen_a/b/g_C_dom, Fibrinogen_a/b/g_C_1, Fibrinogen_CS

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
cranial nerve II	1
lower lobe of lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ANGPT1	250	ubiquitous	marker	lower lobe of lung, calcaneal tendon, cranial nerve II

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ANGPT1	2,194

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ANGPT1	Q15389	5

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
Tie2 Signaling	1	601.0×	0.012	ANGPT1
MAPK1/MAPK3 signaling	1	131.3×	0.018	ANGPT1
MAPK family signaling cascades	1	102.9×	0.018	ANGPT1
Cell surface interactions at the vascular wall	1	95.2×	0.018	ANGPT1
RAF/MAP kinase cascade	1	61.1×	0.023	ANGPT1
Hemostasis	1	36.0×	0.032	ANGPT1
Signal Transduction	1	10.2×	0.098	ANGPT1

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
regulation of macrophage migration inhibitory factor signaling pathway	1	16852.0×	0.002	ANGPT1
activation of transmembrane receptor protein tyrosine kinase activity	1	5617.3×	0.002	ANGPT1
glomerulus vasculature development	1	4213.0×	0.002	ANGPT1
Tie signaling pathway	1	3370.4×	0.002	ANGPT1
positive regulation of blood-brain barrier permeability	1	3370.4×	0.002	ANGPT1
negative regulation of cytokine production involved in immune response	1	2808.7×	0.002	ANGPT1
regulation of skeletal muscle satellite cell proliferation	1	2808.7×	0.002	ANGPT1
positive regulation of coagulation	1	2808.7×	0.002	ANGPT1
heparin proteoglycan biosynthetic process	1	1685.2×	0.002	ANGPT1
regulation of tumor necrosis factor production	1	1685.2×	0.002	ANGPT1
negative regulation of vascular endothelial growth factor signaling pathway	1	1296.3×	0.003	ANGPT1
negative regulation of vascular permeability	1	1123.5×	0.003	ANGPT1
negative regulation of protein import into nucleus	1	936.2×	0.003	ANGPT1
positive regulation of peptidyl-tyrosine phosphorylation	1	802.5×	0.003	ANGPT1
positive chemotaxis	1	802.5×	0.003	ANGPT1
cell-substrate adhesion	1	766.0×	0.003	ANGPT1
positive regulation of receptor internalization	1	702.2×	0.003	ANGPT1
protein localization to cell surface	1	495.6×	0.004	ANGPT1
negative regulation of endothelial cell apoptotic process	1	495.6×	0.004	ANGPT1
sprouting angiogenesis	1	481.5×	0.004	ANGPT1
regulation of canonical NF-kappaB signal transduction	1	481.5×	0.004	ANGPT1
positive regulation of blood vessel endothelial cell migration	1	391.9×	0.004	ANGPT1
negative regulation of cell adhesion	1	383.0×	0.004	ANGPT1
positive regulation of cell adhesion	1	271.8×	0.005	ANGPT1
hemopoiesis	1	267.5×	0.005	ANGPT1
positive regulation of endothelial cell migration	1	251.5×	0.006	ANGPT1
positive regulation of protein ubiquitination	1	213.3×	0.006	ANGPT1
neuron apoptotic process	1	185.2×	0.007	ANGPT1
blood coagulation	1	173.7×	0.007	ANGPT1
negative regulation of neuron apoptotic process	1	110.9×	0.011	ANGPT1

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
ANGPT1	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
ANGPT1	1	Binding: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	ANGPT1

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)
ANGPT1	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.