MCID: PTC002
MIFTS: 40

Potocki-Lupski Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Potocki-Lupski Syndrome

MalaCards integrated aliases for Potocki-Lupski Syndrome:

Name: Potocki-Lupski Syndrome 53 23 49 24 55 28 13 69
Ptls 53 23 49 24
Duplication 17p11.2 Syndrome 23 49 24
Chromosome 17p11.2 Duplication Syndrome 53 24
17p11.2 Microduplication Syndrome 24 55
Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) 49
Chromosome 17, Trisomy 17p11 2 69
17p11.2 Duplication Syndrome 24
Dup(17)(p11.2p11.2) 24
Trisomy 17p11.2 55
Pls 24

Characteristics:

OMIM:

53
Miscellaneous:
variable phenotype
contiguous gene duplication syndrome

Inheritance:
isolated cases


HPO:

31
potocki-lupski syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is 100%; expression of phenotypic features is variable...

Classifications:



Summaries for Potocki-Lupski Syndrome

NIH Rare Diseases : 49 Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. Some people with PTLS have a heart defect. While most cases of PTLS occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy, and/or medical or surgical treatment for heart defects. Last updated: 8/16/2017

MalaCards based summary : Potocki-Lupski Syndrome, also known as ptls, is related to smith-magenis syndrome and platelet groups--pl system, and has symptoms including hypertelorism, failure to thrive and eeg abnormality. An important gene associated with Potocki-Lupski Syndrome is PTLS (Potocki-Lupski Syndrome). Affiliated tissues include heart, eye and kidney.

Genetics Home Reference : 24 Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.

OMIM : 53 Potocki-Lupski syndrome is a developmental disorder characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array comparative genomic hybridization (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion in SMS (summary by Shchelochkov et al., 2010). (610883)

GeneReviews: NBK447920

Related Diseases for Potocki-Lupski Syndrome

Diseases related to Potocki-Lupski Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 smith-magenis syndrome 27.1 FLCN LOC106020709 LOC106020710 LOC106020711 LOC108745275 LOC108745276
2 platelet groups--pl system 11.9
3 lateral sclerosis 11.9
4 primary lateral sclerosis, adult, 1 11.8
5 primary lateral sclerosis, juvenile 11.7
6 potocki-luspski syndrome 11.7
7 yuan-harel-lupski syndrome 11.3
8 pityriasis lichenoides 11.2
9 pleomorphic liposarcoma 11.2
10 papillon-lefevre syndrome 11.1
11 pancreatic lipase deficiency 11.0
12 motor neuron disease 10.9
13 enthesopathy 10.9
14 skin tag 10.9
15 xp22.13p22.2 duplication syndrome 10.4
16 xq12-q13.3 duplication syndrome 10.4
17 autism 10.3
18 oculocerebral syndrome with hypopigmentation 10.2
19 clubfoot 10.2
20 conjunctivitis 10.2
21 dysphagia 10.2
22 myocardial infarction 10.1
23 acute myocardial infarction 9.9
24 lymphogranuloma venereum 9.9
25 cardiogenic shock 9.9
26 arteries, anomalies of 9.8
27 aging 9.8
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
29 blood group, junior system 9.8
30 coronary artery anomaly 9.8
31 heart cancer 9.8
32 allergic encephalomyelitis 9.8
33 blood group--diego system 9.7
34 cardiac conduction defect 9.7
35 leukemia, acute monocytic 9.7
36 prostate cancer 9.7
37 small cell cancer of the lung 9.7
38 renal hypodysplasia/aplasia 1 9.7
39 lung cancer 9.7
40 body mass index quantitative trait locus 11 9.7
41 ayme-gripp syndrome 9.7
42 body mass index quantitative trait locus 9 9.7
43 body mass index quantitative trait locus 8 9.7
44 polydactyly 9.7
45 coronary heart disease 1 9.7
46 body mass index quantitative trait locus 4 9.7
47 body mass index quantitative trait locus 10 9.7
48 body mass index quantitative trait locus 7 9.7
49 body mass index quantitative trait locus 12 9.7
50 body mass index quantitative trait locus 14 9.7

Graphical network of the top 20 diseases related to Potocki-Lupski Syndrome:



Diseases related to Potocki-Lupski Syndrome

Symptoms & Phenotypes for Potocki-Lupski Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
hypermetropia
downslanting palpebral fissures

Respiratory:
sleep apnea

Abdomen Gastroin testinal:
gastroesophageal reflux
poor feeding

Head And Neck Head:
broad forehead
trigonocephaly
microcephaly (less common)

Head And Neck Mouth:
oral-pharyngeal dysphagia
high-arched palate
large mouth

Head And Neck Teeth:
malocclusion
crowded teeth

Skeletal Spine:
scoliosis (less common)

Endocrine Features:
hypothyroidism (less common)

Growth Other:
failure to thrive

Head And Neck Face:
smooth philtrum
micrognathia
triangular face

Cardiovascular Heart:
atrial septal defect
patent foramen ovale
structural cardiovascular abnormalities

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention-deficit disorder

Neurologic Central Nervous System:
delayed myelination
developmental delay
hypotonia
mental retardation, mild
hypoplastic corpus callosum
more
Growth Height:
short stature (less common)

Head And Neck Nose:
long nasal tip

Laboratory Abnormalities:
decreased cholesterol (less common)


Clinical features from OMIM:

610883

Human phenotypes related to Potocki-Lupski Syndrome:

55 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 Occasional (29-5%) HP:0000316
2 failure to thrive 55 31 Very frequent (99-80%) HP:0001508
3 eeg abnormality 55 31 Frequent (79-30%) HP:0002353
4 dysphasia 55 31 Very frequent (99-80%) HP:0002357
5 scoliosis 55 31 Frequent (79-30%) HP:0002650
6 sleep apnea 55 31 Very frequent (99-80%) HP:0010535
7 hearing impairment 55 31 Occasional (29-5%) HP:0000365
8 global developmental delay 55 31 Very frequent (99-80%) HP:0001263
9 microcephaly 55 31 Occasional (29-5%) HP:0000252
10 short stature 55 31 Occasional (29-5%) HP:0004322
11 gastroesophageal reflux 55 31 Frequent (79-30%) HP:0002020
12 intellectual disability, mild 55 31 Very frequent (99-80%) HP:0001256
13 micrognathia 55 31 Frequent (79-30%) HP:0000347
14 autism 55 31 Very frequent (99-80%) HP:0000717
15 broad forehead 55 31 Frequent (79-30%) HP:0000337
16 wide mouth 55 31 Occasional (29-5%) HP:0000154
17 downslanted palpebral fissures 55 31 Frequent (79-30%) HP:0000494
18 triangular face 55 31 Frequent (79-30%) HP:0000325
19 hypoplasia of the corpus callosum 55 31 Occasional (29-5%) HP:0002079
20 expressive language delay 55 31 Very frequent (99-80%) HP:0002474
21 echolalia 55 31 Very frequent (99-80%) HP:0010529
22 oral-pharyngeal dysphagia 55 31 Frequent (79-30%) HP:0200136
23 seizures 31 HP:0001250
24 high palate 31 HP:0000218
25 hypothyroidism 31 occasional (7.5%) HP:0000821
26 muscular hypotonia 55 Very frequent (99-80%)
27 dysarthria 55 Very frequent (99-80%)
28 mandibular prognathia 31 HP:0000303
29 dental malocclusion 31 HP:0000689
30 open bite 55 Occasional (29-5%)
31 smooth philtrum 31 HP:0000319
32 feeding difficulties in infancy 31 HP:0008872
33 stereotypy 31 HP:0000733
34 abnormality of the cardiovascular system 31 HP:0001626
35 malformation of the heart and great vessels 55 Frequent (79-30%)
36 attention deficit hyperactivity disorder 55 Very frequent (99-80%)
37 anxiety 55 Frequent (79-30%)
38 poor fine motor coordination 55 Frequent (79-30%)
39 low-set, posteriorly rotated ears 55 Occasional (29-5%)
40 dental crowding 31 HP:0000678
41 abnormality of the pharynx 55 Very frequent (99-80%)
42 abnormality of dental morphology 55 Occasional (29-5%)
43 high-grade hypermetropia 55 Frequent (79-30%)
44 trigonocephaly 31 HP:0000243
45 hyperactivity 31 HP:0000752
46 abnormality of chromosome segregation 55 Very frequent (99-80%)
47 language impairment 31 HP:0002463
48 abnormal renal morphology 31 HP:0012210
49 generalized hypotonia 31 HP:0001290
50 prominent nasal tip 31 HP:0005274

Drugs & Therapeutics for Potocki-Lupski Syndrome

Search Clinical Trials , NIH Clinical Center for Potocki-Lupski Syndrome

Genetic Tests for Potocki-Lupski Syndrome

Genetic tests related to Potocki-Lupski Syndrome:

# Genetic test Affiliating Genes
1 Potocki-Lupski Syndrome 28 FLCN

Anatomical Context for Potocki-Lupski Syndrome

MalaCards organs/tissues related to Potocki-Lupski Syndrome:

38
Heart, Eye, Kidney

Publications for Potocki-Lupski Syndrome

Articles related to Potocki-Lupski Syndrome:

(show all 27)
# Title Authors Year
1
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. ( 29329513 )
2018
2
A New Patient with Potocki-Lupski Syndrome: A Literature Review. ( 29441219 )
2018
3
Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay. ( 28413209 )
2017
4
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. ( 28794907 )
2017
5
Anesthesia in Potocki-Lupski syndrome. ( 27528017 )
2016
6
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome. ( 26419729 )
2015
7
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. ( 26442755 )
2015
8
Potocki-Lupski syndrome in conjunction with bilateral clubfoot. ( 25768679 )
2015
9
Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome. ( 24311450 )
2013
10
Stress and well-being among parents of children with Potocki-Lupski syndrome. ( 23709095 )
2013
11
Potocki-Lupski syndrome with teratologic dislocation of the hip: a case report. ( 22990438 )
2013
12
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. ( 23624966 )
2013
13
Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. ( 23078968 )
2013
14
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. ( 22639462 )
2012
15
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. ( 23255863 )
2012
16
Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features. ( 22982247 )
2012
17
Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. ( 22178197 )
2012
18
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. ( 21271655 )
2011
19
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. ( 21168152 )
2011
20
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. ( 21271656 )
2011
21
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. ( 21124890 )
2010
22
Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). ( 20110824 )
2010
23
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. ( 20188345 )
2010
24
Potocki-Lupski syndrome mimicking a connective tissue disorder. ( 18541972 )
2008
25
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. ( 18469339 )
2008
26
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. ( 17357070 )
2007
27
Potocki-Lupski Syndrome ( 28837307 )
1993

Variations for Potocki-Lupski Syndrome

Copy number variations for Potocki-Lupski Syndrome from CNVD:

7 (show all 11)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107526 17 15900000 22100000 Duplication Potocki-Lupski syndrome
2 107527 17 15900000 22100000 Duplication Potocki-lupski syndrome
3 107528 17 15900000 22100000 Duplication Potocki-lupski syndrome
4 107529 17 15900000 22100000 Duplication Potocki-lupski syndrome
5 107530 17 15900000 22100000 Duplication RAI1 Potocki-lupski syndrome
6 107531 17 15900000 22100000 Duplication RAI1 Potocki-lupski syndrome
7 107532 17 15900000 22100000 Duplication RAI1 Potocki-lupski syndrome
8 107552 17 15900000 22100000 Microduplication Potocki-lupski syndrome
9 107578 17 16000000 22200000 Deletion and duplica tion Potocki-lupski syndrome
10 107579 17 16000000 22200000 Duplication Potocki-lupski syndrome
11 108861 17 23200000 28800000 Duplication Potocki-lupski syndrome

Expression for Potocki-Lupski Syndrome

Search GEO for disease gene expression data for Potocki-Lupski Syndrome.

Pathways for Potocki-Lupski Syndrome

GO Terms for Potocki-Lupski Syndrome

Sources for Potocki-Lupski Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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