MCID: PLM049
MIFTS: 30

Plummer Vinson Syndrome

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Plummer Vinson Syndrome

MalaCards integrated aliases for Plummer Vinson Syndrome:

Name: Plummer Vinson Syndrome 52
Plummer-Vinson Syndrome 52 58 71
Sideropenic Dysphagia 52 58 32
Kelly-Paterson Syndrome 52 58
Paterson-Brown-Kelly Syndrome 52
Paterson-Kelly Syndrome 52
Dysphagia Sideropenica 52
Paterson's Syndrome 52
Kelly's Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
plummer-vinson syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare haematological diseases


External Ids:

ICD10 32 D50.1
MESH via Orphanet 44 D011004
ICD10 via Orphanet 33 D50.1
UMLS via Orphanet 72 C0032249
Orphanet 58 ORPHA54028
UMLS 71 C0032249

Summaries for Plummer Vinson Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 54028 Definition Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia , iron-deficiency anemia and esophageal webs. Epidemiology Exact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare. Clinical description Most of the patients are white middle-aged women, in the fourth to seventh decade of life, but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers . Etiology The etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Management and treatment Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. Visit the Orphanet disease page for more resources.

MalaCards based summary : Plummer Vinson Syndrome, also known as plummer-vinson syndrome, is related to patterson pseudoleprechaunism syndrome and jawad syndrome. Affiliated tissues include thyroid, spleen and tongue, and related phenotypes are dysphagia and narrow mouth

Related Diseases for Plummer Vinson Syndrome

Diseases related to Plummer Vinson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 patterson pseudoleprechaunism syndrome 12.1
2 jawad syndrome 11.5
3 dysphagia 11.2
4 iron metabolism disease 11.1
5 deficiency anemia 11.1
6 iron deficiency anemia 11.0
7 glossitis 10.8
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.7
9 celiac disease 1 10.7
10 cheilitis 10.7
11 anemia, hypochromic microcytic, with iron overload 1 10.6
12 hypochromic microcytic anemia 10.6
13 candidiasis 10.6
14 gastric cancer 10.6
15 angular cheilitis 10.6
16 esophageal cancer 10.5
17 atrophic glossitis 10.5
18 goiter 10.5
19 nodular goiter 10.5
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
21 constipation 10.4
22 myeloproliferative neoplasm 10.4
23 esophagus squamous cell carcinoma 10.4
24 crohn's disease 10.4
25 stomatitis 10.4
26 liver cirrhosis 10.4
27 autoimmune disease 10.3
28 macroglossia 10.3
29 factor vii deficiency 10.3
30 sjogren syndrome 10.3
31 barrett esophagus 10.3
32 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
33 gastric ulcer 10.3
34 heart disease 10.3
35 alternating exotropia 10.3
36 exotropia 10.3
37 esophagitis 10.3
38 pica disease 10.3
39 squamous cell carcinoma 10.3
40 thrombocytosis 10.3
41 colon adenocarcinoma 10.3
42 myoma 10.3
43 adenocarcinoma 10.3
44 gastritis 10.3
45 congestive heart failure 10.3
46 esophageal disease 10.3
47 hypopharynx cancer 10.3
48 pectus carinatum 10.3
49 swallowing disorders 10.3
50 posttransplant acute limbic encephalitis 10.3

Graphical network of the top 20 diseases related to Plummer Vinson Syndrome:



Diseases related to Plummer Vinson Syndrome

Symptoms & Phenotypes for Plummer Vinson Syndrome

Human phenotypes related to Plummer Vinson Syndrome:

58 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 Obligate (100%)
2 narrow mouth 58 Occasional (29-5%)
3 abdominal pain 58 Occasional (29-5%)
4 cheilitis 58 Occasional (29-5%)
5 pallor 58 Very frequent (99-80%)
6 easy fatigability 58 Very frequent (99-80%)
7 concave nail 58 Occasional (29-5%)
8 glossitis 58 Very frequent (99-80%)
9 poor appetite 58 Occasional (29-5%)
10 hypochromic microcytic anemia 58 Obligate (100%)
11 tongue atrophy 58 Occasional (29-5%)
12 iron deficiency anemia 58 Obligate (100%)
13 decreased serum ferritin 58 Obligate (100%)
14 esophageal web 58 Obligate (100%)
15 intra-oral hyperpigmentation 58 Occasional (29-5%)
16 geophagia 58 Occasional (29-5%)

Drugs & Therapeutics for Plummer Vinson Syndrome

Search Clinical Trials , NIH Clinical Center for Plummer Vinson Syndrome

Genetic Tests for Plummer Vinson Syndrome

Anatomical Context for Plummer Vinson Syndrome

MalaCards organs/tissues related to Plummer Vinson Syndrome:

40
Thyroid, Spleen, Tongue, Heart, Colon, Pancreas, Hypothalamus

Publications for Plummer Vinson Syndrome

Articles related to Plummer Vinson Syndrome:

(show top 50) (show all 245)
# Title Authors PMID Year
1
Plummer - Vinson Syndrome: A Decade's Experience of 132 Cases from a Single Centre. 61
32525241 2020
2
A Holistic Approach to Diagnosing and Treating Dysphagia. 61
32026277 2020
3
Plummer-Vinson Syndrome in a Crohn's disease patient. 61
32088165 2020
4
[A rare cause of dysphagia: Plummer Vinson syndrome associated with arteria lusoria]. 61
31703955 2019
5
A Rare Case of Plummer-Vinson Syndrome. 61
32025392 2019
6
Plummer-Vinson Syndrome and Heart Failure: An Unusual Association in an African American Woman. 61
31451679 2019
7
Plummer-Vinson Syndrome. 61
31208220 2019
8
[Dysphagia and Anemia. Plummer-Vinson syndrome]. 61
29773525 2019
9
Plummer-Vinson Syndrome with Esophageal Web Formation in which Detailed Endoscopic Images Were Obtained. 61
30449792 2019
10
Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency. 61
31528144 2019
11
Plummer-Vinson syndrome: improving outcomes with a multidisciplinary approach. 61
31417270 2019
12
Colon Adenocarcinoma Presenting as Plummer-Vinson Syndrome. 61
29885869 2018
13
A Web Effect: Plummer-Vinson Syndrome. 61
29374547 2018
14
An unusual etiology of plummer-Vinson syndrome. 61
29662867 2018
15
Plummer Vinson syndrome. 61
28223067 2018
16
Image Diagnosis: Plummer-Vinson Syndrome: An Unusual Cause of Dysphagia. 61
30005727 2018
17
Plummer-Vinson Syndrome with Simultaneous Mid-esophageal Growth. 61
28457047 2017
18
Iron deficiency anemia and Plummer-Vinson syndrome: current insights. 61
29089792 2017
19
Long-term evolution of squamous-cell cancer in Plummer-Vinson syndrome. 61
29123586 2017
20
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature. 61
28932606 2017
21
Estimation of hemoglobin, serum iron, total iron-binding capacity and serum ferritin levels in oral submucous fibrosis: A clinicopathological study. 61
28479683 2017
22
Koilonychia: an update on pathophysiology, differential diagnosis and clinical relevance. 61
27531645 2016
23
Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome. 61
27311656 2016
24
Single-center prospective study of Plummer-Vinson syndrome. 61
26227908 2016
25
Plummer-Vinson Syndrome with Proximal Esophageal Web. 61
26658794 2016
26
Plummer-Vinson Syndrome. 61
26944249 2016
27
Two cases with Plummer-Vinson syndrome in the 21st century. 61
26620961 2016
28
Resolution of constipation, anal stricture, and iron deficiency anemia after iron infusion: an analogy with Plummer Vinson syndrome. 61
27917348 2016
29
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer-Vinson Syndrome. 61
26734146 2015
30
Plummer-Vinson Syndrome in Children. 61
26502163 2015
31
PLUMMER VINSON SYNDROME--is it common in males? 61
26486296 2015
32
Oral manifestations of plummer-vinson syndrome: a classic report with literature review. 61
25878483 2015
33
Iron Supplementation Improved Dysphagia Related to Plummer-Vinson Syndrome. 61
26411779 2015
34
Plummer-Vinson syndrome following gastric bypass surgery. 61
25255352 2014
35
A case of plummer-vinson syndrome showing rapid improvement of Dysphagia and esophageal web after two weeks of iron therapy. 61
25028578 2014
36
A case of plummer-vinson syndrome associated with Crohn's disease. 61
24755750 2014
37
[Unusual presentations of Plummer-Vinson syndrome in Black African: report of two cases]. 61
25767665 2014
38
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. 61
24451233 2014
39
Plummer-Vinson syndrome. 61
23707464 2013
40
Plummer Vinson syndrome association with coeliac disease. 61
24433651 2013
41
Cutaneous manifestations of gastrointestinal disease: part I. 61
23317980 2013
42
Revisiting plummer vinson syndrome. 61
23634346 2013
43
[Plummer-Vinson syndrome: a case report]. 61
23538545 2013
44
Plummer-Vinson syndrome. 61
22843759 2012
45
Recurrent esophageal web in Plummer-Vinson syndrome successfully treated with postdilation intralesional injection of mitomycin C. 61
22520888 2012
46
[Plummer-Vinson syndrome: report of a case and review of literature]. 61
23023185 2012
47
Plummer-Vinson syndrome and reactive thrombocytosis mask a JAK2-V617F positive myeloproliferative neoplasm. 61
22238785 2011
48
Esophageal web resolved by endoscopic incision in a patient with Plummer-Vinson syndrome. 61
21824614 2011
49
Orofacial manifestations of hematological disorders: anemia and hemostatic disorders. 61
22048588 2011
50
[Association of Sjögren's syndrome and Plummer Vinson syndrome]. 61
20554085 2011

Variations for Plummer Vinson Syndrome

Cosmic variations for Plummer Vinson Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM150563774 BRAF thyroid,NS,carcinoma,squamous cell carcinoma c.1799T>A p.V600E 7:140753336-140753336 3
2 COSM149385292 thyroid,NS,carcinoma,squamous cell carcinoma c.1919T>A p.V640E 7:140753336-140753336 3
3 COSM118787231 thyroid,NS,carcinoma,squamous cell carcinoma c.1799T>A p.V600E 7:140753336-140753336 3
4 COSM88803061 thyroid,NS,carcinoma,squamous cell carcinoma c.1919T>A p.V640E 7:140753336-140753336 3

Expression for Plummer Vinson Syndrome

Search GEO for disease gene expression data for Plummer Vinson Syndrome.

Pathways for Plummer Vinson Syndrome

GO Terms for Plummer Vinson Syndrome

Sources for Plummer Vinson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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