MCID: PTT016
MIFTS: 28

Patterson Pseudoleprechaunism Syndrome

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Patterson Pseudoleprechaunism Syndrome

MalaCards integrated aliases for Patterson Pseudoleprechaunism Syndrome:

Name: Patterson Pseudoleprechaunism Syndrome 56 74 52 58 71
Pseudoleprechaunism Syndrome, Patterson Type 58
Patterson's Leprechaunoid Syndrome 52
Plummer-Vinson Syndrome 71
Patterson Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
both reported cases survived beyond infancy


HPO:

31
patterson pseudoleprechaunism syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Patterson Pseudoleprechaunism Syndrome

MalaCards based summary : Patterson Pseudoleprechaunism Syndrome, also known as pseudoleprechaunism syndrome, patterson type, is related to tylosis with esophageal cancer and dowling-degos disease 1, and has symptoms including seizures Affiliated tissues include bone, tongue and heart, and related phenotypes are dysphagia and iron deficiency anemia

Wikipedia : 74 Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as... more...

More information from OMIM: 169170

Related Diseases for Patterson Pseudoleprechaunism Syndrome

Diseases related to Patterson Pseudoleprechaunism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tylosis with esophageal cancer 11.5
2 dowling-degos disease 1 10.2
3 cutis laxa 10.2
4 donohue syndrome 10.1
5 plummer vinson syndrome 10.1

Graphical network of the top 20 diseases related to Patterson Pseudoleprechaunism Syndrome:



Diseases related to Patterson Pseudoleprechaunism Syndrome

Symptoms & Phenotypes for Patterson Pseudoleprechaunism Syndrome

Human phenotypes related to Patterson Pseudoleprechaunism Syndrome:

31 58 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 31 obligate (100%) HP:0002015
2 iron deficiency anemia 31 obligate (100%) HP:0001891
3 hypochromic microcytic anemia 31 obligate (100%) HP:0004840
4 decreased serum ferritin 31 obligate (100%) HP:0012343
5 esophageal web 31 obligate (100%) HP:0100594
6 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
7 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
8 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
9 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
10 thickened calvaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002684
11 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
12 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
13 generalized tonic-clonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002069
14 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
15 bladder diverticulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000015
16 flat acetabular roof 58 31 hallmark (90%) Very frequent (99-80%) HP:0003180
17 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
18 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
19 generalized bronze hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007574
20 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
21 long foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001833
22 abnormality of the odontoid process 58 31 hallmark (90%) Very frequent (99-80%) HP:0003310
23 metaphyseal sclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004979
24 abnormality of limb epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006505
25 palmoplantar cutis laxa 58 31 hallmark (90%) Very frequent (99-80%) HP:0007517
26 delayed pubic bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0008788
27 abnormal placental size 58 31 hallmark (90%) Very frequent (99-80%) HP:0012767
28 abnormality of ethmoid bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0430005
29 hyperplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0430028
30 pallor 31 hallmark (90%) HP:0000980
31 easy fatigability 31 hallmark (90%) HP:0003388
32 glossitis 31 hallmark (90%) HP:0000206
33 abnormal mandible condylar process morphology 31 hallmark (90%) HP:3000077
34 atonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0010819
35 premature adrenarche 58 31 frequent (33%) Frequent (79-30%) HP:0012412
36 increased circulating androgen level 58 31 frequent (33%) Frequent (79-30%) HP:0030348
37 abdominal pain 31 occasional (7.5%) HP:0002027
38 narrow mouth 31 occasional (7.5%) HP:0000160
39 cheilitis 31 occasional (7.5%) HP:0100825
40 concave nail 31 occasional (7.5%) HP:0001598
41 poor appetite 31 occasional (7.5%) HP:0004396
42 tongue atrophy 31 occasional (7.5%) HP:0012473
43 intra-oral hyperpigmentation 31 occasional (7.5%) HP:0010284
44 geophagia 31 occasional (7.5%) HP:0025062
45 seizures 31 HP:0001250
46 intrauterine growth retardation 58 Excluded (0%)
47 short long bone 31 HP:0003026
48 intellectual disability, progressive 31 HP:0006887
49 hypoplasia of the odontoid process 31 HP:0003311
50 increased circulating cortisol level 31 HP:0003118

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
diabetes mellitus
premature adrenarche
hyperadrenocorticism

Skeletal:
marked delay in bone age
joint swelling (wrist, elbow, knees, ankles) onset late infancy

Growth Weight:
normal birth weight

Head And Neck Nose:
disproportionately large nose

Skeletal Pelvis:
flat, irregular acetabular roofs
failure of ossification of pubic bones, ischii, triradiate cartilages

Skeletal Hands:
disproportionately large hands

Skin Nails Hair Skin:
generalized bronze hyperpigmentation (present at birth)
cutis laxa, hands and feet (present at birth)

Skeletal Spine:
kyphoscoliosis
irregular, dense end plate
small, flat cervical vertebrae
hypoplastic odontoid process
ovoid thoracic and lumbar vertebrae

Neurologic Central Nervous System:
seizure
severe mental retardation

Head And Neck Ears:
disproportionately large ears
normal hearing

Skeletal Skull:
thickened cranial vault
thick maxilla
thick ethmoid bones
thick mandibular condyles

Skeletal Limbs:
genu valga
short, deformed tubular bones
irregular metaphyseal ossification
sclerotic metaphyseal changes

Skeletal Feet:
disproportionately large feet
ankle valgus deformity

Skin Nails Hair Hair:
hirsutism (especially on limbs)

Clinical features from OMIM:

169170

UMLS symptoms related to Patterson Pseudoleprechaunism Syndrome:


seizures

Drugs & Therapeutics for Patterson Pseudoleprechaunism Syndrome

Search Clinical Trials , NIH Clinical Center for Patterson Pseudoleprechaunism Syndrome

Genetic Tests for Patterson Pseudoleprechaunism Syndrome

Anatomical Context for Patterson Pseudoleprechaunism Syndrome

MalaCards organs/tissues related to Patterson Pseudoleprechaunism Syndrome:

40
Bone, Tongue, Heart, Colon, Pancreas, Hypothalamus

Publications for Patterson Pseudoleprechaunism Syndrome

Articles related to Patterson Pseudoleprechaunism Syndrome:

(show top 50) (show all 212)
# Title Authors PMID Year
1
The Patterson syndrome, leprechaunism, and pseudoleprechaunism. 56
7277424 1981
2
Leprechaunism in a male infant. 56
14484402 1962
3
A Holistic Approach to Diagnosing and Treating Dysphagia. 61
32026277 2020
4
A Rare Case of Plummer-Vinson Syndrome. 61
32025392 2019
5
[A rare cause of dysphagia: Plummer Vinson syndrome associated with arteria lusoria]. 61
31703955 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: improving outcomes with a multidisciplinary approach. 61
31417270 2019
11
Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency. 61
31528144 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
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature. 61
28932606 2017
20
Long-term evolution of squamous-cell cancer in Plummer-Vinson syndrome. 61
29123586 2017
21
Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome. 61
27311656 2016
22
Koilonychia: an update on pathophysiology, differential diagnosis and clinical relevance. 61
27531645 2016
23
Single-center prospective study of Plummer-Vinson syndrome. 61
26227908 2016
24
Plummer-Vinson Syndrome with Proximal Esophageal Web. 61
26658794 2016
25
Plummer-Vinson Syndrome. 61
26944249 2016
26
Two cases with Plummer-Vinson syndrome in the 21st century. 61
26620961 2016
27
Resolution of constipation, anal stricture, and iron deficiency anemia after iron infusion: an analogy with Plummer Vinson syndrome. 61
27917348 2016
28
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer-Vinson Syndrome. 61
26734146 2015
29
Plummer-Vinson Syndrome in Children. 61
26502163 2015
30
PLUMMER VINSON SYNDROME--is it common in males? 61
26486296 2015
31
Oral manifestations of plummer-vinson syndrome: a classic report with literature review. 61
25878483 2015
32
Iron Supplementation Improved Dysphagia Related to Plummer-Vinson Syndrome. 61
26411779 2015
33
Plummer-Vinson syndrome following gastric bypass surgery. 61
25255352 2014
34
A case of plummer-vinson syndrome showing rapid improvement of Dysphagia and esophageal web after two weeks of iron therapy. 61
25028578 2014
35
A case of plummer-vinson syndrome associated with Crohn's disease. 61
24755750 2014
36
[Unusual presentations of Plummer-Vinson syndrome in Black African: report of two cases]. 61
25767665 2014
37
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. 61
24451233 2014
38
Plummer-Vinson syndrome. 61
23707464 2013
39
Plummer Vinson syndrome association with coeliac disease. 61
24433651 2013
40
Cutaneous manifestations of gastrointestinal disease: part I. 61
23317980 2013
41
Revisiting plummer vinson syndrome. 61
23634346 2013
42
[Plummer-Vinson syndrome: a case report]. 61
23538545 2013
43
Plummer-Vinson syndrome. 61
22843759 2012
44
Recurrent esophageal web in Plummer-Vinson syndrome successfully treated with postdilation intralesional injection of mitomycin C. 61
22520888 2012
45
[Plummer-Vinson syndrome: report of a case and review of literature]. 61
23023185 2012
46
Plummer-Vinson syndrome and reactive thrombocytosis mask a JAK2-V617F positive myeloproliferative neoplasm. 61
22238785 2011
47
Esophageal web resolved by endoscopic incision in a patient with Plummer-Vinson syndrome. 61
21824614 2011
48
Orofacial manifestations of hematological disorders: anemia and hemostatic disorders. 61
22048588 2011
49
[Association of Sjögren's syndrome and Plummer Vinson syndrome]. 61
20554085 2011
50
Celiac disease presenting as Plummer-Vinson syndrome. 61
21049422 2010

Variations for Patterson Pseudoleprechaunism Syndrome

Expression for Patterson Pseudoleprechaunism Syndrome

Search GEO for disease gene expression data for Patterson Pseudoleprechaunism Syndrome.

Pathways for Patterson Pseudoleprechaunism Syndrome

GO Terms for Patterson Pseudoleprechaunism Syndrome

Sources for Patterson Pseudoleprechaunism Syndrome

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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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