MCID: PTT016
MIFTS: 25

Patterson Pseudoleprechaunism Syndrome

Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Patterson Pseudoleprechaunism Syndrome

MalaCards integrated aliases for Patterson Pseudoleprechaunism Syndrome:

Name: Patterson Pseudoleprechaunism Syndrome 57 19 58 75 71
Patterson Syndrome 58 75
Pseudoleprechaunism Syndrome, Patterson Type 58
Patterson's Leprechaunoid Syndrome 19
Plummer-Vinson Syndrome 71

Characteristics:


Inheritance:

Isolated cases 57

Prevelance:

Pseudoleprechaunism Syndrome, Patterson Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Pseudoleprechaunism Syndrome, Patterson Type: Antenatal,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
both reported cases survived beyond infancy


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM® 57 169170
MESH via Orphanet 44 C536310
ICD10 via Orphanet 32 E34.8
UMLS via Orphanet 72 C1868546
Orphanet 58 ORPHA2976
MedGen 40 C1868546
UMLS 71 C0032249 C1868546

Summaries for Patterson Pseudoleprechaunism Syndrome

GARD: 19 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

MalaCards based summary: Patterson Pseudoleprechaunism Syndrome, also known as patterson syndrome, is related to tylosis with esophageal cancer and jawad syndrome, and has symptoms including seizures Affiliated tissues include bone, and related phenotypes are diabetes mellitus and delayed skeletal maturation

Orphanet: 58 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 tylosis with esophageal cancer 11.3
2 jawad syndrome 10.2
3 dowling-degos disease 1 10.1
4 osteochondrodysplasia 10.1
5 cutis laxa 10.1
6 plummer vinson syndrome 10.1
7 donohue syndrome 9.9
8 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 9.9
9 deficiency anemia 9.9
10 iron deficiency anemia 9.9
11 conn's syndrome 9.9
12 iron metabolism disease 9.9

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:

58 30 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000819
2 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
3 macrotia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000400
4 thickened calvaria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002684
5 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
6 genu valgum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002857
7 kyphoscoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002751
8 joint swelling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001386
9 bladder diverticulum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000015
10 large hands 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001176
11 prominent nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000448
12 hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001007
13 flat acetabular roof 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003180
14 long foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001833
15 generalized bronze hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007574
16 hyperplasia of the maxilla 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0430028
17 abnormality of the odontoid process 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003310
18 metaphyseal sclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004979
19 palmoplantar cutis laxa 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007517
20 delayed pubic bone ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008788
21 abnormal placental size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012767
22 abnormal mandible condylar process morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:3000077
23 bilateral tonic-clonic seizure 30 Hallmark (90%) HP:0002069
24 abnormal ethmoid bone morphology 30 Hallmark (90%) HP:0430005
25 abnormal limb epiphysis morphology 30 Hallmark (90%) HP:0006505
26 premature adrenarche 58 30 Frequent (33%) Frequent (79-30%)
HP:0012412
27 atonic seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0010819
28 increased circulating androgen concentration 30 Frequent (33%) HP:0030348
29 intrauterine growth retardation 58 Excluded (0%)
30 intellectual disability, progressive 30 HP:0006887
31 generalized tonic-clonic seizures 58 Very frequent (99-80%)
32 short long bone 30 HP:0003026
33 hypoplasia of the odontoid process 30 HP:0003311
34 increased circulating cortisol level 30 HP:0003118
35 increased circulating androgen level 58 Frequent (79-30%)
36 marked delay in bone age 30 HP:0003799
37 growth abnormality 30 HP:0001507
38 abnormality of limb epiphysis morphology 58 Very frequent (99-80%)
39 abnormality of ethmoid bone 58 Very frequent (99-80%)
40 ovoid thoracolumbar vertebrae 30 HP:0003309
41 irregular sclerotic endplates 30 HP:0008476
42 small cervical vertebral bodies 30 HP:0004629
43 talipes valgus 30 HP:0004684
44 irregular acetabular roof 30 HP:0008833
45 cervical platyspondyly 30 HP:0004558
46 seizure 30 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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

Organs/tissues related to Patterson Pseudoleprechaunism Syndrome:

MalaCards : Bone

Publications for Patterson Pseudoleprechaunism Syndrome

Articles related to Patterson Pseudoleprechaunism Syndrome:

# Title Authors PMID Year
1
The Patterson syndrome, leprechaunism, and pseudoleprechaunism. 62 57
7277424 1981
2
Leprechaunism in a male infant. 57
14484402 1962
3
Iron Deficiency as Cause of Dysphagia and Burning Mouth (Plummer-Vinson or Kelly-Patterson Syndrome): a Case Report. 62
33002400 2020
4
Skeletal dysplasia, hyperpigmentation, cutis laxa, endocrine abnormality, and mental retardation--the Patterson syndrome. 62
7163277 1982
5
[The Kelly-Patterson syndrome]. 62
13831603 1959
6
[Plummer-Vinson syndrome (Kelly-Patterson syndrome)]. 62
13629658 1959

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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