IgG4-related ophthalmic disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related ophthalmic disease | |
| fr | Maladie ophtalmologique associée à IgG4 | |
| de | IgG4-assoziierte ophthalmologische Manifestation | Augenkrankheit, IgG4-assoziierte |
| es | Enfermedad oftalmológica asociada a IgG4 | |
| it | Malattia oftalmica correlata a IgG4 | |
| nl | IgG4-gerelateerde oftalmische ziekte | |
| pt | Doença oftalmológica IgG4-relacionada | |
| pl | Choroba oftalmologiczna związane z IgG4 | |
| cs | IgG4 asociované postižení očí | |
| uk | Офтальмологічні захворювання, повязані з IgG4 | |
| zh | IgG4相关的眼科疾病 | |
| tr | IgG4-ilişkili oftalmik hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H05.1 | NTBT | attributed | validated |
| ICD-11 | 4A43.0 | NTBT | index | validated |
| MONDO | 0018675 | E | validated | |
| UMLS | C5569009 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:596448IgG4-related systemic disease
rare systemic and rheumatological diseases - ORPHA:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24513111[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
42 annotations · validated 2021-05-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010824 | Abnormal fifth cranial nerve morphology | |
| HP:0011482 | Abnormal lacrimal gland morphology | |
| HP:3000061 | Abnormality of infra-orbital nerve | |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0012393 | Allergy | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0000620 | Dacryocystitis | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0007734 | Enlarged lacrimal glands | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0032300 | Increased circulating IgG4 level | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001733 | Pancreatitis | |
| HP:0100539 | Periorbital edema | |
| HP:0031281 | Sialadenitis | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0002088 | Abnormal lung morphology | |
| HP:3000030 | Abnormal morphology of bony orbit of skull | |
| HP:0030669 | Abnormal ocular adnexa morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0008049 | Abnormality of the extraocular muscles | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0009831 | Mononeuropathy | |
| HP:0100540 | Palpebral edema | |
| HP:0005200 | Retroperitoneal fibrosis | |
| HP:0000246 | Sinusitis | |
| Very rare (<4-1%) | ||
| HP:0011747 | Abnormality of the anterior pituitary | |
| HP:0430022 | Abnormality of the sphenoid sinus | |
| HP:0030151 | Cholangitis | |
| HP:0003003 | Colon cancer | |
| HP:0000491 | Keratitis | |
| HP:0002665 | Lymphoma | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0012539 | Non-Hodgkin lymphoma | |
| HP:0100796 | Orchitis | |
| HP:0000024 | Prostatitis | |
| HP:0100646 | Thyroiditis | |
| HP:0031912 | Trigeminal anesthesia | |
| HP:0100661 | Trigeminal neuralgia | |
Annotation source: 25392273[PMID]_25564258[PMID]_28272212[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/449563
- This record as JSON: /data/d/449563.json