Holmes-Adie syndrome
Synonyms: Adie syndrome · Tonic pupil-tendon areflexia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holmes-Adie syndrome | Adie syndrome · Tonic pupil-tendon areflexia syndrome |
| fr | Syndrome de Holmes-Adie | Pupille tonique d'Adie |
| de | Holmes-Adie-Syndrom | Adie-Syndrom · Tonische Pupille-Sehnenareflexie-Syndrom |
| es | Síndrome de Holmes-Adie | Síndrome de Adie · Síndrome de pupila tónica-arreflexia del tendón |
| it | Sindrome di Holmes-Adie | Sindrome di Adie |
| nl | Syndroom van Holmes-Adie | Holmes-Adiesyndroom · Syndroom van Adie · Tonische pupil - peesareflexie-syndroom |
| pt | Síndrome de Holmes -Adie | |
| pl | Zespół Holmesa i Adiego | Zespół Adiego · Zespół źrenicy tonicznej i braku odruchów ścięgnistych |
| cs | Holmsův-Adieho syndrom | Adieho syndrom · Holms-Adieho syndrom |
| uk | Синдром Холмса-Аді | Синдром Аді · Синдром тонічної зінично-сухожильної арефлексії |
| zh | 福尔摩斯·阿迪综合症 | 强直性瞳孔-腱反射消失综合征 |
| tr | Holmes-Adie sendromu | Adie sendromu · Tonik pupil-tendon arefleksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103100 | NTBT | validated | |
| ICD-10 | H57.0 | NTBT | index | validated |
| ICD-11 | 9B01.1 | NTBT | index | validated |
| MONDO | 0018690 | E | validated | |
| MeSH | D000270 | E | validated | |
| UMLS | C0001519 | E | validated | |
| GARD | 5749 | E | validated | |
| MedDRA | 10020352 | 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 (1):
- ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.7 / 100 000 | United States | Value and class | Validated | 613531[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
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
11 annotations · validated 2024-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012074 | Tonic pupil | |
| Frequent (79-30%) | ||
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0009916 | Anisocoria | |
| HP:0001284 | Areflexia | |
| HP:0000622 | Blurred vision | |
| HP:0011499 | Mydriasis | |
| Occasional (29-5%) | ||
| HP:0012803 | Anisometropia | |
| HP:0034315 | Chronic cough | |
| HP:0000540 | Hypermetropia | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0000613 | Photophobia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30285366[PMID]_33595525[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/454718
- This record as JSON: /data/d/454718.json