Angioedema, hereditary, 7
diseaseOn this page
Also known as HAE7
Summary
Angioedema, hereditary, 7 (MONDO:0025713) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | angioedema, hereditary, 7 |
| Mondo ID | MONDO:0025713 |
| OMIM | 619366 |
| UMLS | C5543526 |
| MedGen | 1784046 |
| GARD | 0025482 |
| Is cancer (heuristic) | no |
Also known as: HAE7
Data availability: 5 ClinVar variants · 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, 7
Related subtypes (9): hereditary angioedema type 3, angioedema, hereditary, 6, angioedema, hereditary, 4, angioedema, hereditary, 5, 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
5 retrieved; paginated sample, class counts are floors:
2 uncertain significance, 2 conflicting classifications of pathogenicity, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1162305 | NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) | MYOF | Pathogenic | no assertion criteria provided |
| 2672274 | NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala) | MYOF | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3068251 | NM_013451.4(MYOF):c.1714C>T (p.Arg572Trp) | MYOF | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2393297 | NM_013451.4(MYOF):c.4402G>A (p.Gly1468Arg) | MYOF | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 4277607 | NM_013451.4(MYOF):c.5185C>A (p.Leu1729Ile) | MYOF | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 2 · 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 |
|---|---|---|---|---|
| MYOF | Limited | Unknown | angioedema, hereditary, 7 | 2 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MYOF | 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 |
|---|---|---|---|---|---|
| MYOF | HGNC:3656 | ENSG00000138119 | Q9NZM1 | Myoferlin | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MYOF | Myoferlin | Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. |
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) |
|---|---|---|---|---|
| MYOF | Other/Unknown | no | C2_dom, Peroxin/Ferlin, Ferlin_A-domain |
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 |
|---|---|
| gingival epithelium | 1 |
| nasal cavity epithelium | 1 |
| skin of hip | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MYOF | 284 | ubiquitous | marker | skin of hip, gingival epithelium, nasal cavity epithelium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYOF | 1,556 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MYOF | Q9NZM1 | 8 |
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 |
|---|---|---|---|---|
| regulation of neurotransmitter secretion | 1 | 766.0× | 0.003 | MYOF |
| plasma membrane repair | 1 | 581.1× | 0.003 | MYOF |
| blood circulation | 1 | 510.7× | 0.003 | MYOF |
| muscle contraction | 1 | 208.1× | 0.005 | MYOF |
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 |
|---|---|---|
| MYOF | 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 |
|---|---|---|
| MYOF | 14 | Binding:14 |
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 | MYOF |
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) |
|---|---|---|
| MYOF | 14 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: MYOF