Plummer-Vinson syndrome
Synonyms: Kelly-Paterson syndrome · Sideropenic dysphagia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare hematological disorder characterized by the classic triad of iron-deficiency anemia, dysphagia, and esophageal webs. It predominantly affects Caucasian women aged 40-70 years, although pediatric cases have been reported. Dysphagia is usually painless, intermittent or progressive over several years, and limited to solids; it is sometimes associated with weight loss, while anemia-related symptoms such as fatigue and pallor may predominate. Additional signs include glossitis, angular cheilitis, and koilonychia. Splenomegaly and thyroid enlargement may occur. Iron deficiency is considered a major potential etiological factor. The syndrome is associated with an increased risk of developing squamous cell carcinoma of the upper gastrointestinal tract.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Plummer-Vinson syndrome | Kelly-Paterson syndrome · Sideropenic dysphagia |
| fr | Syndrome de Plummer-Vinson | Dysphagie sidéropénique · Syndrome de Kelly-Paterson |
| de | Plummer-Vinson-Syndrom | Dysphagie, sideropenische · Kelly-Paterson-Syndrom |
| es | Síndrome de Plummer-Vinson | Disfagia sideropénica · Síndrome de Kelly-Paterson |
| it | Sindrome di Plummer-Vinson | Disfagia sideropenica · Sindrome di Kelly-Paterson |
| nl | Syndroom van Plummer-Vinson | Sideropenische dysfagie · Syndroom van Kelly-Paterson |
| pt | Síndrome Plummer-Vinson | Disfagia sideropénica · Síndrome Kelly-Paterson |
| pl | Zespół plummera i Vinsona | Dysfagia syderopeniczna · Zespół Kelly'ego i Patersona |
| cs | Plummerův-Vinsonův syndrom | Sideropenická dysfagie · Patersonův -Brown-Kellyho syndrom · Plummer-Vinsonův syndrom · Paterson -Brown-Kellyho syndrom |
| uk | Синдром Пламмера-Вінсона | Синдром Келлі-Патерсона · Сидеропенічна дисфагія |
| zh | Plummer-Vinson综合征 | Kelly-Paterson综合征 |
| tr | Plummer-Vinson sendromu | Sideropenik disfaji · Kelly-Paterson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D50.1 | NTBT | attributed | validated |
| ICD-11 | 3A00.Y | NTBT | index | validated |
| MONDO | 0018895 | E | validated | |
| MeSH | D011004 | E | validated | |
| UMLS | C0032249 | E | validated | |
| GARD | 8259 | E | validated | |
| MedDRA | 10040664 | 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:248302Rare acquired deficiency anemia
rare hematological diseases - ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
16 annotations · validated 2016-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012343 | Decreased serum ferritin | |
| HP:0002015 | Dysphagia | Diagnostic criterion |
| HP:0100594 | Esophageal web | Diagnostic criterion |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0001891 | Iron deficiency anemia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0003388 | Easy fatigability | |
| HP:0000206 | Glossitis | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100825 | Cheilitis | |
| HP:0001598 | Concave nail | |
| HP:0025062 | Geophagia | |
| HP:0010284 | Intra-oral hyperpigmentation | |
| HP:0000160 | Narrow mouth | |
| HP:0004396 | Poor appetite | |
| HP:0012473 | Tongue atrophy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26944249[PMID]_25878483[PMID]_26620961[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/54028
- This record as JSON: /data/d/54028.json