MCID: PTT016
MIFTS: 27

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 57 75 53 59 72
Pseudoleprechaunism Syndrome, Patterson Type 59
Patterson's Leprechaunoid Syndrome 53
Plummer-Vinson Syndrome 72
Patterson Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
both reported cases survived beyond infancy


HPO:

32
patterson pseudoleprechaunism syndrome:
Inheritance sporadic


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 169170
MESH via Orphanet 45 C536310
ICD10 via Orphanet 34 E34.8
UMLS via Orphanet 73 C1868546
Orphanet 59 ORPHA2976
MedGen 42 C1868546
UMLS 72 C0032249 C1868546

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 colon, and related phenotypes are dysphagia and iron deficiency anemia

Wikipedia : 75 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 11.4
2 dowling-degos disease 1 10.2
3 cutis laxa 10.2
4 donohue syndrome 10.0
5 plummer vinson syndrome 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone, Tongue, Colon, Pancreas, Hypothalamus

Publications for Patterson Pseudoleprechaunism Syndrome

Articles related to Patterson Pseudoleprechaunism Syndrome:

(show top 50) (show all 207)
# Title Authors PMID Year
1
The Patterson syndrome, leprechaunism, and pseudoleprechaunism. 8
7277424 1981
2
Leprechaunism in a male infant. 8
14484402 1962
3
Plummer-Vinson Syndrome. 38
31208220 2019
4
[Dysphagia and Anemia. Plummer-Vinson syndrome]. 38
29773525 2019
5
Plummer-Vinson Syndrome with Esophageal Web Formation in which Detailed Endoscopic Images Were Obtained. 38
30449792 2019
6
Plummer-Vinson syndrome: improving outcomes with a multidisciplinary approach. 38
31417270 2019
7
Colon Adenocarcinoma Presenting as Plummer-Vinson Syndrome. 38
29885869 2018
8
A Web Effect: Plummer-Vinson Syndrome. 38
29374547 2018
9
An unusual etiology of plummer-Vinson syndrome. 38
29662867 2018
10
Plummer Vinson syndrome. 38
28223067 2018
11
Image Diagnosis: Plummer-Vinson Syndrome: An Unusual Cause of Dysphagia. 38
30005727 2018
12
Plummer-Vinson Syndrome with Simultaneous Mid-esophageal Growth. 38
28457047 2017
13
Iron deficiency anemia and Plummer-Vinson syndrome: current insights. 38
29089792 2017
14
Long-term evolution of squamous-cell cancer in Plummer-Vinson syndrome. 38
29123586 2017
15
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature. 38
28932606 2017
16
Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome. 38
27311656 2016
17
Koilonychia: an update on pathophysiology, differential diagnosis and clinical relevance. 38
27531645 2016
18
Single-center prospective study of Plummer-Vinson syndrome. 38
26227908 2016
19
Plummer-Vinson Syndrome with Proximal Esophageal Web. 38
26658794 2016
20
Plummer-Vinson Syndrome. 38
26944249 2016
21
Two cases with Plummer-Vinson syndrome in the 21st century. 38
26620961 2016
22
Resolution of constipation, anal stricture, and iron deficiency anemia after iron infusion: an analogy with Plummer Vinson syndrome. 38
27917348 2016
23
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer-Vinson Syndrome. 38
26734146 2015
24
Plummer-Vinson Syndrome in Children. 38
26502163 2015
25
PLUMMER VINSON SYNDROME--is it common in males? 38
26486296 2015
26
Oral manifestations of plummer-vinson syndrome: a classic report with literature review. 38
25878483 2015
27
Iron Supplementation Improved Dysphagia Related to Plummer-Vinson Syndrome. 38
26411779 2015
28
Plummer-Vinson syndrome following gastric bypass surgery. 38
25255352 2014
29
A case of plummer-vinson syndrome showing rapid improvement of Dysphagia and esophageal web after two weeks of iron therapy. 38
25028578 2014
30
A case of plummer-vinson syndrome associated with Crohn's disease. 38
24755750 2014
31
[Unusual presentations of Plummer-Vinson syndrome in Black African: report of two cases]. 38
25767665 2014
32
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. 38
24451233 2014
33
Plummer-Vinson syndrome. 38
23707464 2013
34
Plummer Vinson syndrome association with coeliac disease. 38
24433651 2013
35
Cutaneous manifestations of gastrointestinal disease: part I. 38
23317980 2013
36
Revisiting plummer vinson syndrome. 38
23634346 2013
37
[Plummer-Vinson syndrome: a case report]. 38
23538545 2013
38
Plummer-Vinson syndrome. 38
22843759 2012
39
Recurrent esophageal web in Plummer-Vinson syndrome successfully treated with postdilation intralesional injection of mitomycin C. 38
22520888 2012
40
[Plummer-Vinson syndrome: report of a case and review of literature]. 38
23023185 2012
41
Plummer-Vinson syndrome and reactive thrombocytosis mask a JAK2-V617F positive myeloproliferative neoplasm. 38
22238785 2011
42
Esophageal web resolved by endoscopic incision in a patient with Plummer-Vinson syndrome. 38
21824614 2011
43
Orofacial manifestations of hematological disorders: anemia and hemostatic disorders. 38
22048588 2011
44
[Association of Sjögren's syndrome and Plummer Vinson syndrome]. 38
20554085 2011
45
Celiac disease presenting as Plummer-Vinson syndrome. 38
21049422 2010
46
Plummer-Vinson syndrome. 38
20890819 2010
47
Role of microsatellites instability in carcinogenesis of postcricoid carcinoma on top of plummer-vinson syndrome. 38
22319705 2010
48
Unusual case of dysphagia in a male. 38
20922928 2010
49
[Argon plasma coagulation therapy of upper esophageal web in a patient with Plummer-Vinson syndrome: a new therapeutical option]. 38
20022070 2010
50
[A pharyngo-esophageal cancer in a patient with Plummer Vinson syndrome. (Apropos of a case)]. 38
21435998 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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45 MESH via Orphanet
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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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