MCID: PTC002
MIFTS: 36

Potocki-Lupski Syndrome

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

Aliases & Classifications for Potocki-Lupski Syndrome

MalaCards integrated aliases for Potocki-Lupski Syndrome:

Name: Potocki-Lupski Syndrome 54 23 50 24 56 29 13 69
Ptls 23 50 24
Duplication 17p11.2 Syndrome 23 50
Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) 50
17p11.2 Microduplication Syndrome 56
Chromosome 17, Trisomy 17p11 2 69
17p11.2 Duplication Syndrome 24
Trisomy 17p11.2 56

Characteristics:

OMIM:

54
Miscellaneous:
variable phenotype
contiguous gene duplication syndrome

Inheritance:
isolated cases


HPO:

32
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 : 50 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 yuan-harel-lupski syndrome, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Potocki-Lupski Syndrome is PTLS (Potocki-Lupski Syndrome). Affiliated tissues include heart, eye and kidney.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 smith-magenis syndrome 24.9 LOC106020709 LOC106020710 LOC106020711 LOC106020712 LOC108745275 LOC108745276
2 yuan-harel-lupski syndrome 11.2
3 potocki-luspski syndrome 11.0
4 clubfoot 10.1
5 conjunctivitis 10.1
6 dysphagia 10.1
7 immunoglobulin a deficiency 2 8.4 LOC106020709 LOC106020710 LOC108745275 LOC108745276 RAI1

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:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
hypotonia
speech delay
developmental delay
eeg abnormalities
delayed myelination
more
Abdomen- Gastroin testinal:
poor feeding
gastroesophageal reflux

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

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

Skeletal- Spine:
scoliosis (less common)

Growth- Height:
short stature (less common)

Endocrine Features:
hypothyroidism (less common)

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

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism
hypermetropia

Head And Neck- Face:
micrognathia
triangular face
smooth philtrum

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

Head And Neck- Teeth:
crowded teeth
malocclusion

Respiratory:
sleep apnea

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:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Occasional (29-5%) HP:0004322
2 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
3 scoliosis 56 32 Frequent (79-30%) HP:0002650
4 wide mouth 56 32 Occasional (29-5%) HP:0000154
5 microcephaly 56 32 Occasional (29-5%) HP:0000252
6 micrognathia 56 32 Frequent (79-30%) HP:0000347
7 hypertelorism 56 32 Occasional (29-5%) HP:0000316
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
10 broad forehead 56 32 Frequent (79-30%) HP:0000337
11 hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0002079
12 autism 56 32 Very frequent (99-80%) HP:0000717
13 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
14 triangular face 56 32 Frequent (79-30%) HP:0000325
15 dysphasia 56 32 Very frequent (99-80%) HP:0002357
16 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
17 sleep apnea 56 32 Very frequent (99-80%) HP:0010535
18 hearing impairment 56 32 Occasional (29-5%) HP:0000365
19 expressive language delay 56 32 Very frequent (99-80%) HP:0002474
20 echolalia 56 32 Very frequent (99-80%) HP:0010529
21 oral-pharyngeal dysphagia 56 32 Frequent (79-30%) HP:0200136
22 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
23 dysarthria 56 Very frequent (99-80%)
24 seizures 32 HP:0001250
25 poor eye contact 32 HP:0000817
26 trigonocephaly 32 HP:0000243
27 hyperactivity 32 HP:0000752
28 patent foramen ovale 32 HP:0001655
29 delayed myelination 32 HP:0012448
30 hypermetropia 32 HP:0000540
31 low-set, posteriorly rotated ears 56 Occasional (29-5%)
32 high palate 32 HP:0000218
33 generalized hypotonia 32 HP:0001290
34 smooth philtrum 32 HP:0000319
35 hypothyroidism 32 occasional (7.5%) HP:0000821
36 muscular hypotonia 56 Very frequent (99-80%)
37 feeding difficulties in infancy 32 HP:0008872
38 dental malocclusion 32 HP:0000689
39 prominent nasal tip 32 HP:0005274
40 small for gestational age 32 HP:0001518
41 anxiety 56 Frequent (79-30%)
42 dental crowding 32 HP:0000678
43 short attention span 32 HP:0000736
44 hypocholesterolemia 32 HP:0003146
45 language impairment 32 HP:0002463
46 open bite 56 Occasional (29-5%)
47 attention deficit hyperactivity disorder 56 Very frequent (99-80%)
48 poor fine motor coordination 56 Frequent (79-30%)
49 speech apraxia 56 Frequent (79-30%)
50 mandibular prognathia 32 HP:0000303

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:

id Genetic test Affiliating Genes
1 Potocki-Lupski Syndrome 29 24

Anatomical Context for Potocki-Lupski Syndrome

MalaCards organs/tissues related to Potocki-Lupski Syndrome:

39
Heart, Eye, Kidney

Publications for Potocki-Lupski Syndrome

Articles related to Potocki-Lupski Syndrome:

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

Variations for Potocki-Lupski Syndrome

Copy number variations for Potocki-Lupski Syndrome from CNVD:

7 (show all 11)
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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