MCID: PLM049
MIFTS: 29

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 53
Plummer-Vinson Syndrome 53 59 72
Sideropenic Dysphagia 53 59 33
Kelly-Paterson Syndrome 53 59
Paterson-Brown-Kelly Syndrome 53
Paterson-Kelly Syndrome 53
Dysphagia Sideropenica 53
Paterson's Syndrome 53
Kelly's Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
plummer-vinson syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 33 D50.1
MESH via Orphanet 45 D011004
ICD10 via Orphanet 34 D50.1
UMLS via Orphanet 73 C0032249
Orphanet 59 ORPHA54028
UMLS 72 C0032249

Summaries for Plummer Vinson Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 54028DefinitionPlummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.EpidemiologyExact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare.Clinical descriptionMost 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.EtiologyThe 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 treatmentPlummer-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 pallor

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 52)
# 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 11.0
6 iron deficiency anemia 11.0
7 glossitis 10.8
8 celiac disease 1 10.7
9 cheilitis 10.7
10 candidiasis 10.6
11 anemia, hypochromic microcytic, with iron overload 1 10.6
12 gastric cancer 10.6
13 hypochromic microcytic anemia 10.6
14 angular cheilitis 10.6
15 atrophic glossitis 10.5
16 goiter 10.5
17 nodular goiter 10.5
18 esophageal cancer 10.4
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
20 constipation 10.4
21 myeloproliferative neoplasm 10.4
22 stomatitis 10.4
23 liver cirrhosis 10.4
24 autoimmune disease 10.3
25 macroglossia 10.3
26 sjogren syndrome 10.3
27 barrett esophagus 10.3
28 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
29 gastric ulcer 10.3
30 alternating exotropia 10.3
31 exotropia 10.3
32 esophagitis 10.3
33 pica disease 10.3
34 squamous cell carcinoma 10.3
35 thrombocytosis 10.3
36 colon adenocarcinoma 10.3
37 myoma 10.3
38 adenocarcinoma 10.3
39 esophagus squamous cell carcinoma 10.3
40 gastritis 10.3
41 esophageal disease 10.3
42 ariboflavinosis 10.3
43 hypopharynx cancer 10.3
44 crohn's disease 10.3
45 pectus carinatum 10.3
46 swallowing disorders 10.3
47 posttransplant acute limbic encephalitis 10.3
48 thyroiditis 10.3
49 polycythemia vera 10.1
50 colitis 10.1

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:

59 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 Obligate (100%)
2 pallor 59 Very frequent (99-80%)
3 abdominal pain 59 Occasional (29-5%)
4 narrow mouth 59 Occasional (29-5%)
5 cheilitis 59 Occasional (29-5%)
6 easy fatigability 59 Very frequent (99-80%)
7 iron deficiency anemia 59 Obligate (100%)
8 concave nail 59 Occasional (29-5%)
9 glossitis 59 Very frequent (99-80%)
10 poor appetite 59 Occasional (29-5%)
11 hypochromic microcytic anemia 59 Obligate (100%)
12 tongue atrophy 59 Occasional (29-5%)
13 decreased serum ferritin 59 Obligate (100%)
14 esophageal web 59 Obligate (100%)
15 intra-oral hyperpigmentation 59 Occasional (29-5%)
16 geophagia 59 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:

41
Thyroid, Spleen, Tongue, Colon, Pancreas, Hypothalamus

Publications for Plummer Vinson Syndrome

Articles related to Plummer Vinson Syndrome:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Plummer-Vinson Syndrome. 38
31208220 2019
2
[Dysphagia and Anemia. Plummer-Vinson syndrome]. 38
29773525 2019
3
Plummer-Vinson Syndrome with Esophageal Web Formation in which Detailed Endoscopic Images Were Obtained. 38
30449792 2019
4
Plummer-Vinson syndrome: improving outcomes with a multidisciplinary approach. 38
31417270 2019
5
Colon Adenocarcinoma Presenting as Plummer-Vinson Syndrome. 38
29885869 2018
6
A Web Effect: Plummer-Vinson Syndrome. 38
29374547 2018
7
An unusual etiology of plummer-Vinson syndrome. 38
29662867 2018
8
Plummer Vinson syndrome. 38
28223067 2018
9
Image Diagnosis: Plummer-Vinson Syndrome: An Unusual Cause of Dysphagia. 38
30005727 2018
10
Plummer-Vinson Syndrome with Simultaneous Mid-esophageal Growth. 38
28457047 2017
11
Iron deficiency anemia and Plummer-Vinson syndrome: current insights. 38
29089792 2017
12
Long-term evolution of squamous-cell cancer in Plummer-Vinson syndrome. 38
29123586 2017
13
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature. 38
28932606 2017
14
Estimation of hemoglobin, serum iron, total iron-binding capacity and serum ferritin levels in oral submucous fibrosis: A clinicopathological study. 38
28479683 2017
15
Koilonychia: an update on pathophysiology, differential diagnosis and clinical relevance. 38
27531645 2016
16
Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome. 38
27311656 2016
17
Single-center prospective study of Plummer-Vinson syndrome. 38
26227908 2016
18
Plummer-Vinson Syndrome with Proximal Esophageal Web. 38
26658794 2016
19
Plummer-Vinson Syndrome. 38
26944249 2016
20
Two cases with Plummer-Vinson syndrome in the 21st century. 38
26620961 2016
21
Resolution of constipation, anal stricture, and iron deficiency anemia after iron infusion: an analogy with Plummer Vinson syndrome. 38
27917348 2016
22
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer-Vinson Syndrome. 38
26734146 2015
23
Plummer-Vinson Syndrome in Children. 38
26502163 2015
24
PLUMMER VINSON SYNDROME--is it common in males? 38
26486296 2015
25
Oral manifestations of plummer-vinson syndrome: a classic report with literature review. 38
25878483 2015
26
Iron Supplementation Improved Dysphagia Related to Plummer-Vinson Syndrome. 38
26411779 2015
27
Plummer-Vinson syndrome following gastric bypass surgery. 38
25255352 2014
28
A case of plummer-vinson syndrome showing rapid improvement of Dysphagia and esophageal web after two weeks of iron therapy. 38
25028578 2014
29
A case of plummer-vinson syndrome associated with Crohn's disease. 38
24755750 2014
30
[Unusual presentations of Plummer-Vinson syndrome in Black African: report of two cases]. 38
25767665 2014
31
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. 38
24451233 2014
32
Plummer-Vinson syndrome. 38
23707464 2013
33
Plummer Vinson syndrome association with coeliac disease. 38
24433651 2013
34
Cutaneous manifestations of gastrointestinal disease: part I. 38
23317980 2013
35
Revisiting plummer vinson syndrome. 38
23634346 2013
36
[Plummer-Vinson syndrome: a case report]. 38
23538545 2013
37
Plummer-Vinson syndrome. 38
22843759 2012
38
Recurrent esophageal web in Plummer-Vinson syndrome successfully treated with postdilation intralesional injection of mitomycin C. 38
22520888 2012
39
[Plummer-Vinson syndrome: report of a case and review of literature]. 38
23023185 2012
40
Plummer-Vinson syndrome and reactive thrombocytosis mask a JAK2-V617F positive myeloproliferative neoplasm. 38
22238785 2011
41
Esophageal web resolved by endoscopic incision in a patient with Plummer-Vinson syndrome. 38
21824614 2011
42
Orofacial manifestations of hematological disorders: anemia and hemostatic disorders. 38
22048588 2011
43
[Association of Sjögren's syndrome and Plummer Vinson syndrome]. 38
20554085 2011
44
Celiac disease presenting as Plummer-Vinson syndrome. 38
21049422 2010
45
Plummer-Vinson syndrome. 38
20890819 2010
46
Role of microsatellites instability in carcinogenesis of postcricoid carcinoma on top of plummer-vinson syndrome. 38
22319705 2010
47
Unusual case of dysphagia in a male. 38
20922928 2010
48
[Argon plasma coagulation therapy of upper esophageal web in a patient with Plummer-Vinson syndrome: a new therapeutical option]. 38
20022070 2010
49
Reversible sideropenic Dysphagia in a toddler with iron deficiency. 38
20080525 2010
50
[A pharyngo-esophageal cancer in a patient with Plummer Vinson syndrome. (Apropos of a case)]. 38
21435998 2010

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 COSM476 BRAF thyroid,NS,carcinoma,squamous cell carcinoma c.1799T>A p.V600E 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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