IgG4-related pachymeningitis
disease diseaseOn this page
Also known as idiopathic hypertrophic cranial pachymeningitisidiopathic hypertrophic craniospinal pachymeningitisidiopathic hypertrophic pachymeningitisidiopathic hypertrophic spinal pachymeningitis
Summary
IgG4-related pachymeningitis (MONDO:0018673) is a disease. A subtype of immunoglobulin G4-related sclerosing disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 39
Clinical features
Signs & symptoms
Clinical features (HPO)
39 HPO clinical features (Orphanet curated; top 39 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002921 | Abnormality of the cerebrospinal fluid | Very frequent (80-99%) |
| HP:0010652 | Abnormal dura mater morphology | Very frequent (80-99%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0002922 | Increased CSF protein concentration | Frequent (30-79%) |
| HP:0007340 | Lower limb muscle weakness | Frequent (30-79%) |
| HP:0011227 | Elevated circulating C-reactive protein concentration | Frequent (30-79%) |
| HP:0012531 | Pain | Frequent (30-79%) |
| HP:0032300 | Increased circulating IgG4 level | Frequent (30-79%) |
| HP:0000123 | Nephritis | Occasional (5-29%) |
| HP:0000246 | Sinusitis | Occasional (5-29%) |
| HP:0000572 | Visual loss | Occasional (5-29%) |
| HP:0000587 | Abnormal optic nerve morphology | Occasional (5-29%) |
| HP:0000651 | Diplopia | Occasional (5-29%) |
| HP:0000738 | Hallucinations | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001268 | Mental deterioration | Occasional (5-29%) |
| HP:0001289 | Confusion | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0002015 | Dysphagia | Occasional (5-29%) |
| HP:0002088 | Abnormal lung morphology | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002176 | Spinal cord compression | Occasional (5-29%) |
| HP:0002381 | Aphasia | Occasional (5-29%) |
| HP:0002385 | Paraparesis | Occasional (5-29%) |
| HP:0002840 | Lymphadenitis | Occasional (5-29%) |
| HP:0003319 | Abnormality of the cervical spine | Occasional (5-29%) |
| HP:0003419 | Low back pain | Occasional (5-29%) |
| HP:0003474 | Somatic sensory dysfunction | Occasional (5-29%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (5-29%) |
| HP:0009744 | Abnormal spinal dura mater morphology | Occasional (5-29%) |
| HP:0009911 | Abnormal temporal bone morphology | Occasional (5-29%) |
| HP:0010558 | Abnormality of the clivus | Occasional (5-29%) |
| HP:0011850 | Parotitis | Occasional (5-29%) |
| HP:0030833 | Neck pain | Occasional (5-29%) |
| HP:0045052 | Abnormality of the brachial nerve plexus | Occasional (5-29%) |
| HP:3000035 | Abnormality of cervical plexus | Occasional (5-29%) |
| HP:0000929 | Abnormal skull morphology | Very rare (<1-4%) |
| HP:0001880 | Eosinophilia | Very rare (<1-4%) |
| HP:0004431 | Complement deficiency | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | IgG4-related pachymeningitis |
| Mondo ID | MONDO:0018673 |
| Orphanet | 449427 |
| ICD-11 | 1140264879 |
| SNOMED CT | 762282007 |
| UMLS | C4545992 |
| MedGen | 1627405 |
| GARD | 0013256 |
| Is cancer (heuristic) | no |
Also known as: idiopathic hypertrophic cranial pachymeningitis · idiopathic hypertrophic craniospinal pachymeningitis · idiopathic hypertrophic pachymeningitis · idiopathic hypertrophic spinal pachymeningitis
Disease family
This is a subtype of immunoglobulin G4-related sclerosing disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › immune system disorder › autoimmune disease › immunoglobulin G4-related sclerosing disease › IgG4-related pachymeningitis
Related subtypes (13): autoimmune pancreatitis, IgG4-related mesenteritis, IgG4-related sclerosing cholangitis, IgG4-related kidney disease, IgG4-related aortitis, IgG4-related submandibular gland disease, IgG4-related ophthalmic disorder, eosinophilic angiocentric fibrosis, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, IgG4-related retroperitoneal fibrosis, IgG4-related mediastinitis, IgG4-related thyroid disease
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
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.