MCID: PTC006
MIFTS: 27

Potocki-Luspski Syndrome

Categories: Genetic diseases

Aliases & Classifications for Potocki-Luspski Syndrome

Summaries for Potocki-Luspski Syndrome

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.

MalaCards based summary : Potocki-Luspski Syndrome, also known as chromosome 17, trisomy 17p11 2, is related to potocki-lupski syndrome and smith-magenis syndrome, and has symptoms including wide mouth, microcephaly and hypertelorism. An important gene associated with Potocki-Luspski Syndrome is LLGL1 (LLGL1, Scribble Cell Polarity Complex Component), and among its related pathways/superpathways is Glucose / Energy Metabolism.

Related Diseases for Potocki-Luspski Syndrome

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

# Related Disease Score Top Affiliating Genes
1 potocki-lupski syndrome 11.3
2 smith-magenis syndrome 8.6 DRG2 LLGL1 SHMT1 SREBF1

Symptoms & Phenotypes for Potocki-Luspski Syndrome

Human phenotypes related to Potocki-Luspski Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 wide mouth 31 occasional (7.5%) HP:0000154
2 microcephaly 31 occasional (7.5%) HP:0000252
3 hypertelorism 31 occasional (7.5%) HP:0000316
4 triangular face 31 frequent (33%) HP:0000325
5 broad forehead 31 frequent (33%) HP:0000337
6 micrognathia 31 frequent (33%) HP:0000347
7 hearing impairment 31 occasional (7.5%) HP:0000365
8 low-set, posteriorly rotated ears 31 occasional (7.5%) HP:0000368
9 downslanted palpebral fissures 31 frequent (33%) HP:0000494
10 autism 31 hallmark (90%) HP:0000717
11 anxiety 31 frequent (33%) HP:0000739
12 muscular hypotonia 31 hallmark (90%) HP:0001252
13 intellectual disability, mild 31 hallmark (90%) HP:0001256
14 dysarthria 31 hallmark (90%) HP:0001260
15 global developmental delay 31 hallmark (90%) HP:0001263
16 failure to thrive 31 hallmark (90%) HP:0001508
17 gastroesophageal reflux 31 frequent (33%) HP:0002020
18 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
19 eeg abnormality 31 frequent (33%) HP:0002353
20 dysphasia 31 hallmark (90%) HP:0002357
21 expressive language delay 31 hallmark (90%) HP:0002474
22 scoliosis 31 frequent (33%) HP:0002650
23 abnormality of chromosome segregation 31 hallmark (90%) HP:0002916
24 short stature 31 occasional (7.5%) HP:0004322
25 abnormality of dental morphology 31 occasional (7.5%) HP:0006482
26 poor fine motor coordination 31 frequent (33%) HP:0007010
27 attention deficit hyperactivity disorder 31 hallmark (90%) HP:0007018
28 high hypermetropia 31 frequent (33%) HP:0008499
29 echolalia 31 hallmark (90%) HP:0010529
30 sleep apnea 31 hallmark (90%) HP:0010535
31 open bite 31 occasional (7.5%) HP:0010807
32 speech apraxia 31 frequent (33%) HP:0011098
33 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
34 oral-pharyngeal dysphagia 31 frequent (33%) HP:0200136

Drugs & Therapeutics for Potocki-Luspski Syndrome

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

Genetic Tests for Potocki-Luspski Syndrome

Genetic tests related to Potocki-Luspski Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17, Trisomy 17p11 2 28

Anatomical Context for Potocki-Luspski Syndrome

Publications for Potocki-Luspski Syndrome

Articles related to Potocki-Luspski 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-Luspski Syndrome

Expression for Potocki-Luspski Syndrome

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

Pathways for Potocki-Luspski Syndrome

Pathways related to Potocki-Luspski Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 SHMT1 SREBF1

GO Terms for Potocki-Luspski Syndrome

Sources for Potocki-Luspski 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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