MCID: PTT016
MIFTS: 31

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 76 53 59 73
Pseudoleprechaunism Syndrome, Patterson Type 59
Patterson's Leprechaunoid Syndrome 53
Plummer-Vinson Syndrome 73
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


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 donohue syndrome, and has symptoms including seizures Affiliated tissues include bone, tongue and colon, and related phenotypes are genu valgum and diabetes mellitus

Wikipedia : 76 Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as... more...

Description 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 11.2
2 donohue syndrome 10.0
3 cutis laxa 10.0

Symptoms & Phenotypes for Patterson Pseudoleprechaunism Syndrome

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

Neurologic Central Nervous System:
severe mental retardation
seizure

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

Growth Weight:
normal birth weight

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

Human phenotypes related to Patterson Pseudoleprechaunism Syndrome:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
3 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 thickened calvaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002684
6 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
7 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
8 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
9 bladder diverticulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000015
10 flat acetabular roof 59 32 hallmark (90%) Very frequent (99-80%) HP:0003180
11 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
12 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
13 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
14 generalized bronze hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007574
15 premature adrenarche 59 32 frequent (33%) Frequent (79-30%) HP:0012412
16 atonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0010819
17 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
18 long foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001833
19 abnormality of the odontoid process 59 32 hallmark (90%) Very frequent (99-80%) HP:0003310
20 metaphyseal sclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004979
21 abnormality of limb epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006505
22 palmoplantar cutis laxa 59 32 hallmark (90%) Very frequent (99-80%) HP:0007517
23 delayed pubic bone ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0008788
24 abnormal placental size 59 32 hallmark (90%) Very frequent (99-80%) HP:0012767
25 abnormality of ethmoid bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0430005
26 hyperplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0430028
27 increased circulating androgen level 59 32 frequent (33%) Frequent (79-30%) HP:0030348
28 seizures 32 HP:0001250
29 dysphagia 32 obligate (100%) HP:0002015
30 pallor 32 hallmark (90%) HP:0000980
31 abdominal pain 32 occasional (7.5%) HP:0002027
32 short long bone 32 HP:0003026
33 intrauterine growth retardation 59 Excluded (0%)
34 easy fatigability 32 hallmark (90%) HP:0003388
35 intellectual disability, progressive 32 HP:0006887
36 narrow mouth 32 occasional (7.5%) HP:0000160
37 iron deficiency anemia 32 obligate (100%) HP:0001891
38 cheilitis 32 occasional (7.5%) HP:0100825
39 concave nail 32 occasional (7.5%) HP:0001598
40 hypoplasia of the odontoid process 32 HP:0003311
41 glossitis 32 hallmark (90%) HP:0000206
42 increased circulating cortisol level 32 HP:0003118
43 poor appetite 32 occasional (7.5%) HP:0004396
44 irregular acetabular roof 32 HP:0008833
45 marked delay in bone age 32 HP:0003799
46 abnormality of mandible condylar process 59 Very frequent (99-80%)
47 ovoid thoracolumbar vertebrae 32 HP:0003309
48 irregular sclerotic endplates 32 HP:0008476
49 tongue atrophy 32 occasional (7.5%) HP:0012473
50 decreased serum ferritin 32 obligate (100%) HP:0012343

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

Publications for Patterson Pseudoleprechaunism Syndrome

Articles related to Patterson Pseudoleprechaunism Syndrome:

(show top 50) (show all 107)
# Title Authors Year
1
An unusual etiology of plummer-Vinson syndrome. ( 29662867 )
2018
2
Colon adenocarcinoma presenting a Plummer-Vinson Syndrome. ( 29885869 )
2018
3
A Web Effect: Plummer-Vinson Syndrome. ( 29374547 )
2018
4
Image Diagnosis: Plummer-Vinson Syndrome: An Unusual Cause of Dysphagia. ( 30005727 )
2018
5
A Case of Plummer-Vinson Syndrome with Esophageal Web Formation in which Detailed Endoscopic Images Were Obtained. ( 30449792 )
2018
6
Plummer-Vinson Syndrome with Simultaneous Mid-esophageal Growth. ( 28457047 )
2017
7
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature. ( 28932606 )
2017
8
Long-term evolution of squamous-cell cancer in Plummer-Vinson syndrome. ( 29123586 )
2017
9
Plummer Vinson syndrome. ( 28223067 )
2017
10
Iron deficiency anemia and Plummer-Vinson syndrome: current insights. ( 29089792 )
2017
11
Classical case of plummer vinson syndrome. ( 27728246 )
2016
12
Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome. ( 27311656 )
2016
13
Plummer-Vinson Syndrome with Proximal Esophageal Web. ( 26658794 )
2016
14
Two cases with Plummer-Vinson syndrome in the 21st century. ( 26620961 )
2016
15
Plummer-Vinson Syndrome. ( 26944249 )
2016
16
Resolution of constipation, anal stricture, and iron deficiency anemia after iron infusion: an analogy with Plummer Vinson syndrome. ( 27917348 )
2016
17
Single-center prospective study of Plummer-Vinson syndrome. ( 26227908 )
2015
18
Plummer-Vinson Syndrome in Children. ( 26502163 )
2015
19
PLUMMER VINSON SYNDROME - is it common in males? ( 26486296 )
2015
20
Iron Supplementation Improved Dysphagia Related to Plummer-Vinson Syndrome. ( 26411779 )
2015
21
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer-Vinson Syndrome. ( 26734146 )
2015
22
Oral manifestations of plummer-vinson syndrome: a classic report with literature review. ( 25878483 )
2015
23
Plummer-Vinson Syndrome in Children: 3 Cases and Review of the Pediatric Literature. ( 25944216 )
2015
24
A case of plummer-vinson syndrome showing rapid improvement of Dysphagia and esophageal web after two weeks of iron therapy. ( 25028578 )
2014
25
A case of plummer-vinson syndrome associated with Crohn's disease. ( 24755750 )
2014
26
Plummer-Vinson syndrome following gastric bypass surgery. ( 25255352 )
2014
27
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. ( 24451233 )
2014
28
Plummer Vinson syndrome association with coeliac disease. ( 24433651 )
2013
29
Revisiting plummer vinson syndrome. ( 23634346 )
2013
30
Plummer-Vinson syndrome. ( 23707464 )
2013
31
Plummer-Vinson syndrome. ( 22843759 )
2012
32
Recurrent esophageal web in Plummer-Vinson syndrome successfully treated with postdilation intralesional injection of mitomycin C. ( 22520888 )
2012
33
Esophageal web resolved by endoscopic incision in a patient with Plummer-Vinson syndrome. ( 21824614 )
2011
34
Plummer-Vinson syndrome and reactive thrombocytosis mask a JAK2-V617F positive myeloproliferative neoplasm. ( 22238785 )
2011
35
Celiac disease presenting as Plummer-Vinson syndrome. ( 21049422 )
2010
36
Role of microsatellites instability in carcinogenesis of postcricoid carcinoma on top of plummer-vinson syndrome. ( 22319705 )
2010
37
Plummer-Vinson syndrome. ( 20890819 )
2010
38
Gastric cancer presenting with Plummer-Vinson Syndrome. ( 19470022 )
2009
39
Plummer-Vinson syndrome in a 15-year-old boy. ( 19950850 )
2009
40
Plummer-Vinson syndrome: an unusual cause of dysphagia. ( 18510825 )
2008
41
Plummer-Vinson syndrome successfully treated by endoscopic dilatation. ( 18031398 )
2007
42
Plummer-Vinson syndrome heralded by postcricoid carcinoma. ( 17162126 )
2007
43
Plummer-Vinson syndrome associated with solid-pseudopapillary tumor of the pancreas. ( 17908468 )
2007
44
Plummer Vinson syndrome. ( 18290554 )
2007
45
A case study of Plummer-Vinson syndrome. ( 23120360 )
2006
46
Plummer-Vinson syndrome. ( 16978405 )
2006
47
Plummer-Vinson syndrome and dilation therapy: a report of two cases. ( 16547853 )
2005
48
Gastric cancer occurring in a patient with Plummer-Vinson syndrome: a case report. ( 16437616 )
2005
49
What is your diagnosis? Plummer-Vinson syndrome. ( 15027514 )
2004
50
Treatment of Plummer-Vinson syndrome with Savary-Gilliard dilatation. ( 15083231 )
2004

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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