MCID: PTC002
MIFTS: 41

Potocki-Lupski Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Potocki-Lupski Syndrome

MalaCards integrated aliases for Potocki-Lupski Syndrome:

Name: Potocki-Lupski Syndrome 57 12 24 53 25 59 13 6 73
Ptls 57 24 53 25
Chromosome 17p11.2 Duplication Syndrome 57 12 25
17p11.2 Microduplication Syndrome 12 25 59
Duplication 17p11.2 Syndrome 24 53 25
Trisomy 17p11.2 12 59
Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) 53
Chromosome 17, Trisomy 17p11 2 73
17p11.2 Duplication Syndrome 25
Potocki-Luspski Syndrome 15
Dup(17)(p11.2p11.2) 25
Pls 25

Characteristics:

OMIM:

57
Miscellaneous:
variable phenotype
contiguous gene duplication syndrome

Inheritance:
isolated cases


HPO:

32
potocki-lupski syndrome:
Onset and clinical course phenotypic variability
Inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is 100%; expression of phenotypic features is variable...

Classifications:



Summaries for Potocki-Lupski Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Potocki-Lupski Syndrome, also known as ptls, is related to smith-magenis syndrome and papillon-lefevre syndrome. An important gene associated with Potocki-Lupski Syndrome is PTLS (Potocki-Lupski Syndrome). Affiliated tissues include heart, eye and kidney, and related phenotypes are hypertelorism and muscular hypotonia

Disease Ontology : 12 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has material basis in duplication of a region of chromosome 17p11.2.

Genetics Home Reference : 25 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 : 57 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)

Wikipedia : 76 Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication... more...

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 78)
# Related Disease Score Top Affiliating Genes
1 smith-magenis syndrome 24.1 DRG2 LLGL1 LOC106020709 LOC106020710 LOC106020711 LOC108745275
2 papillon-lefevre syndrome 12.0
3 platelet groups--pl system 11.9
4 lateral sclerosis 11.8
5 primary lateral sclerosis, adult, 1 11.8
6 primary lateral sclerosis, juvenile 11.7
7 yuan-harel-lupski syndrome 11.3
8 pityriasis lichenoides 11.2
9 pleomorphic liposarcoma 11.2
10 pancreatic lipase deficiency 11.0
11 haim-munk syndrome 11.0
12 motor neuron disease 10.8
13 enthesopathy 10.8
14 skin tag 10.8
15 proteus-like syndrome 10.8
16 autism 10.3
17 alport syndrome, x-linked 10.2
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 leukemia 10.0
24 acute myocardial infarction 9.9
25 lymphogranuloma venereum 9.9
26 allergic encephalomyelitis 9.9
27 cardiogenic shock 9.9
28 arteries, anomalies of 9.8
29 aging 9.8
30 myelodysplastic syndrome 9.8
31 acute leukemia 9.8
32 coronary artery anomaly 9.8
33 heart cancer 9.8
34 ischemia 9.8
35 chromosomal deletion syndrome 9.7 PTER RAI1
36 leukemia, chronic lymphocytic 2 9.7
37 cardiac conduction defect 9.7
38 leukemia, acute monocytic 9.7
39 leukemia, chronic lymphocytic 9.7
40 systemic lupus erythematosus 9.7
41 prostate cancer 9.7
42 small cell cancer of the lung 9.7
43 renal hypodysplasia/aplasia 1 9.7
44 lung cancer 9.7
45 polydactyly 9.7
46 coronary heart disease 1 9.7
47 bardet-biedl syndrome 2 9.7
48 bardet-biedl syndrome 10 9.7
49 bardet-biedl syndrome 11 9.7
50 bardet-biedl syndrome 12 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:

57
Head And Neck Eyes:
hypertelorism
hypermetropia
downslanting palpebral fissures

Respiratory:
sleep apnea

Abdomen Gastrointestinal:
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:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
6 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 sleep apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0010535
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
12 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
15 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
16 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
17 autism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000717
18 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
19 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
20 poor fine motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007010
21 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
22 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
23 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 abnormality of dental morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0006482
26 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
27 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
28 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
29 expressive language delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0002474
30 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
31 speech apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0011098
32 oral-pharyngeal dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0200136
33 high palate 32 HP:0000218
34 hypothyroidism 32 occasional (7.5%) HP:0000821
35 seizures 32 HP:0001250
36 mandibular prognathia 32 HP:0000303
37 dental malocclusion 32 HP:0000689
38 smooth philtrum 32 HP:0000319
39 feeding difficulties in infancy 32 HP:0008872
40 stereotypy 32 HP:0000733
41 abnormality of the cardiovascular system 32 HP:0001626
42 malformation of the heart and great vessels 59 Frequent (79-30%)
43 dental crowding 32 HP:0000678
44 abnormality of the pharynx 59 Very frequent (99-80%)
45 high-grade hypermetropia 59 Frequent (79-30%)
46 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
47 trigonocephaly 32 HP:0000243
48 hyperactivity 32 HP:0000752
49 language impairment 32 HP:0002463
50 abnormal renal morphology 32 HP:0012210

Drugs & Therapeutics for Potocki-Lupski Syndrome

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

Genetic Tests for Potocki-Lupski Syndrome

Anatomical Context for Potocki-Lupski Syndrome

MalaCards organs/tissues related to Potocki-Lupski Syndrome:

41
Heart, Eye, Kidney

Publications for Potocki-Lupski Syndrome

Articles related to Potocki-Lupski Syndrome:

(show all 27)
# Title Authors Year
1
A New Patient with Potocki-Lupski Syndrome: A Literature Review. ( 29441219 )
2018
2
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. ( 29329513 )
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
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. ( 23624966 )
2013
10
Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome. ( 24311450 )
2013
11
Stress and well-being among parents of children with Potocki-Lupski syndrome. ( 23709095 )
2013
12
Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. ( 23078968 )
2013
13
Potocki-Lupski syndrome with teratologic dislocation of the hip: a case report. ( 22990438 )
2013
14
Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. ( 22178197 )
2012
15
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. ( 22639462 )
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
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. ( 23255863 )
2012
18
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. ( 21271656 )
2011
19
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. ( 21271655 )
2011
20
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. ( 21168152 )
2011
21
Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). ( 20110824 )
2010
22
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. ( 20188345 )
2010
23
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. ( 21124890 )
2010
24
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. ( 18469339 )
2008
25
Potocki-Lupski syndrome mimicking a connective tissue disorder. ( 18541972 )
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

ClinVar genetic disease variations for Potocki-Lupski Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 50 genes:FLCN; RAI1 duplication Pathogenic GRCh37 Chromosome 17, 16757111: 20219651

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
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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