PTLS
MCID: PTC002
MIFTS: 48

Potocki-Lupski Syndrome (PTLS)

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

Aliases & Classifications for Potocki-Lupski Syndrome

MalaCards integrated aliases for Potocki-Lupski Syndrome:

Name: Potocki-Lupski Syndrome 57 12 25 20 43 58 29 13 6 44 15 71
Ptls 57 25 20 43
Chromosome 17p11.2 Duplication Syndrome 57 12 43
17p11.2 Microduplication Syndrome 12 43 58
Duplication 17p11.2 Syndrome 25 20 43
Trisomy 17p11.2 12 58
Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) 20
Chromosome 17, Trisomy 17p11 2 71
17p11.2 Duplication Syndrome 43
Dup(17)(p11.2p11.2) 43
Pls 43

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
variable phenotype
contiguous gene duplication syndrome

Inheritance:
isolated cases


HPO:

31
potocki-lupski syndrome:
Inheritance sporadic


GeneReviews:

25
Penetrance Penetrance is 100%; expression of phenotypic features is variable.

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Potocki-Lupski Syndrome

MedlinePlus Genetics : 43 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.Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia) that lead to feeding problems. Some affected babies do not grow and gain weight at the expected rate (described as failure to thrive), and children with this condition tend to be shorter and weigh less than their peers. About 40 percent of babies with Potocki-Lupski syndrome are born with a heart defect, which in some cases is life-threatening.Babies and children with Potocki-Lupski syndrome have delayed development, including delayed speech and language skills and gross motor skills such sitting, standing, and walking. As they get older, affected individuals have intellectual disability, which is usually mild to moderate, and ongoing difficulties with speech. Potocki-Lupski syndrome is also associated with behavioral problems, which can include attention problems, hyperactivity, compulsive or impulsive behaviors, and anxiety. Many people with this condition have features of autism spectrum disorder, which affects social interaction and communication.Other signs and symptoms of Potocki-Lupski syndrome can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected individuals have problems with sleep, including short pauses in breathing during sleep (sleep apnea) and trouble falling asleep and staying asleep. The condition can also have subtle differences in facial features, including outside corners of the eyes that point downward (down-slanting palpebral fissures), a triangular face with a broad forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism).

MalaCards based summary : Potocki-Lupski Syndrome, also known as ptls, is related to pervasive developmental disorder and smith-magenis syndrome. An important gene associated with Potocki-Lupski Syndrome is FLCN (Folliculin). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and eye, and related phenotypes are failure to thrive and dysarthria

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.

GARD : 20 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.

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) (Updated 05-Mar-2021)

Wikipedia : 74 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 115)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 30.5 PRODH NLGN3 MECP2
2 smith-magenis syndrome 30.5 TCF20 RAI1 PRODH NT5M MECP2 LOC108745276
3 autism 30.2 TCF20 RAI1 PRODH NT5M NLGN3 MECP2
4 lateral sclerosis 11.6
5 papillon-lefevre syndrome 11.6
6 primary lateral sclerosis, juvenile 11.5
7 primary lateral sclerosis, adult, 1 11.5
8 yuan-harel-lupski syndrome 11.4
9 haim-munk syndrome 11.0
10 motor neuron disease 11.0
11 pleomorphic liposarcoma 11.0
12 proteus-like syndrome 10.9
13 hypotonia 10.7
14 alacrima, achalasia, and mental retardation syndrome 10.6
15 infantile hypotonia 10.6
16 autism spectrum disorder 10.6
17 sleep apnea 10.4
18 stereotypic movement disorder 10.4 PRODH MECP2
19 valproate embryopathy 10.3 NLGN3 MECP2
20 hypoglycemia 10.3
21 growth hormone deficiency 10.3
22 dysphagia 10.3
23 amyotrophic lateral sclerosis 1 10.3
24 childhood disintegrative disease 10.3 NLGN3 MECP2
25 chromosomal deletion syndrome 10.3 RAI1 PRODH MECP2
26 echolalia 10.3 PRODH NLGN3 MECP2
27 chromosomal disease 10.2 RAI1 PRODH MECP2
28 x-linked monogenic disease 10.2 PRODH NLGN3 MECP2
29 specific developmental disorder 10.2 PRODH NLGN3 MECP2
30 charcot-marie-tooth disease 10.2
31 tooth disease 10.2
32 alport syndrome 10.2
33 chiari malformation type ii 10.2
34 oculocerebral syndrome with hypopigmentation 10.2
35 chromosomal duplication syndrome 10.2
36 gene duplication disease 10.2
37 mild cognitive impairment 10.2
38 clubfoot 10.2
39 sleep disorder 10.2
40 learning disability 10.2
41 periodic limb movement disorder 10.2
42 hypoplastic left heart syndrome 10.2
43 chiari malformation 10.2
44 chromosomal triplication 10.2
45 farsightedness 10.2
46 atypical autism 10.1 NLGN3 MECP2
47 velocardiofacial syndrome 10.1 PRODH PRDM9 MECP2
48 polydactyly 10.1
49 periodontitis 10.1
50 spasticity 10.1

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



Diseases related to Potocki-Lupski Syndrome

Symptoms & Phenotypes for Potocki-Lupski Syndrome

Human phenotypes related to Potocki-Lupski Syndrome:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
4 sleep apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0010535
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
7 autism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000717
8 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
9 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
10 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
11 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474
12 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
13 hypotonia 31 hallmark (90%) HP:0001252
14 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
17 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
18 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
19 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
20 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
21 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
22 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
23 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
24 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
25 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
26 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
27 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
28 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
29 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
32 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
33 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
34 abnormality of dental morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0006482
35 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
36 hypothyroidism 31 occasional (7.5%) HP:0000821
37 high palate 31 HP:0000218
38 muscular hypotonia 58 Very frequent (99-80%)
39 mandibular prognathia 31 HP:0000303
40 dental malocclusion 31 HP:0000689
41 smooth philtrum 31 HP:0000319
42 feeding difficulties in infancy 31 HP:0008872
43 stereotypy 31 HP:0000733
44 abnormality of the cardiovascular system 31 HP:0001626
45 malformation of the heart and great vessels 58 Frequent (79-30%)
46 dental crowding 31 HP:0000678
47 hypocholesterolemia 31 HP:0003146
48 trigonocephaly 31 HP:0000243
49 poor eye contact 31 HP:0000817
50 small for gestational age 31 HP:0001518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
hypertelorism
hypermetropia
downslanting palpebral fissures

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)

Respiratory:
sleep apnea

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
hypotonia
developmental delay
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Potocki-Lupski Syndrome

Drugs for Potocki-Lupski Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
4
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
5
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
6
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
7
Bevacizumab Approved, Investigational Phase 2 216974-75-3
8
nivolumab Approved Phase 2 946414-94-4
9 Hemostatics Phase 1, Phase 2
10 Coagulants Phase 1, Phase 2
11 Epidiolex Phase 2
12 Immunologic Factors Phase 2
13 Vaccines Phase 2
14 Albumin-Bound Paclitaxel Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Antineoplastic Agents, Immunological Phase 2
17 Pharmaceutical Solutions Phase 1
18
Milnacipran Approved, Investigational 92623-85-3 65833
19
Levomilnacipran Approved, Investigational 96847-54-0
20
Norepinephrine Approved 51-41-2 439260
21
Cycloserine Approved 68-41-7 401 6234
22 Insulin, Globin Zinc
23 insulin
24 Antibiotics, Antitubercular
25 Antitubercular Agents
26 Analgesics, Non-Narcotic
27 Anti-Infective Agents
28 Antidepressive Agents
29 Serotonin and Noradrenaline Reuptake Inhibitors
30 Anti-Bacterial Agents
31 Psychotropic Drugs
32 Neurotransmitter Agents
33 Analgesics
34 Antimetabolites
35
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Formula-driven vs Laboratory-guided Transfusion Practices in Bleeding Trauma Patients: A Feasibility Randomized Controlled Study Completed NCT00945542 Phase 1, Phase 2
2 A Phase II, Open-label, Single-center Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Oral Administration of PTL101 (Cannabidiol) as an Adjunctive Treatment for Pediatric Intractable Epilepsy Completed NCT02987114 Phase 2 PLT101
3 Phase II Trial of Adjuvant Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Vaccine (FANG™) Integrated With Chemotherapy for Patients With Recurrent Cisplatinum Sensitive Ovarian Cancer Participating in Study CL-PTL 105 Completed NCT01867086 Phase 2 Carboplatinum;Carboplatinum and Taxol
4 Phase II Trial of Adjuvant Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Vaccine (FANG™) Integrated With Bevacizumab for Patients With Recurrent/Refractory Ovarian Cancer Participating in Study CL-PTL 105 Completed NCT01551745 Phase 2 Bevacizumab
5 A Phase 2a, Open-label, Multiple Dose, Safety, Pharmacokinetic and Biomarker Study of PTl-125 in Mild-to-moderate Alzheimer's Disease Patients Completed NCT03748706 Phase 2 PTI-125, 100 mg tablets
6 A Phase 2, Open-label, Single-arm, Two-cohort Study of Nivolumab in Relapsed/Refractory Primary Central Nervous System Lymphoma (PCNSL) or Relapsed/Refractory Primary Testicular Lymphoma (PTL) Active, not recruiting NCT02857426 Phase 2 Nivolumab
7 A Phase I, Single Center, Randomized, Double-blind, Placebo-controlled, Single Ascending Dose, Pharmacokinetic and Safety Study of PTl-125 in Healthy Volunteers Completed NCT03784300 Phase 1 50 mg PTI-125;100 mg PTI-125;200 mg PTI-125
8 Investigation of the Efficacy of Tools of the Mind for Enhancing Self-Control in Canadian Preschoolers Completed NCT02462733
9 PTL-900590 Effectiveness and Safety Study of the Dexcom G4™ Continuous Glucose Monitoring System Completed NCT01514292
10 Uncovering Neural and Immune Mechanisms of Chronic Pain in Post Treatment Lyme Syndrome Terminated NCT02687165 Milnacipran and D-cycloserine

Search NIH Clinical Center for Potocki-Lupski Syndrome

Cochrane evidence based reviews: potocki-lupski syndrome

Genetic Tests for Potocki-Lupski Syndrome

Genetic tests related to Potocki-Lupski Syndrome:

# Genetic test Affiliating Genes
1 Potocki-Lupski Syndrome 29 FLCN

Anatomical Context for Potocki-Lupski Syndrome

MalaCards organs/tissues related to Potocki-Lupski Syndrome:

40
Heart, Thyroid, Eye, Lung, Kidney, Brain, T Cells

Publications for Potocki-Lupski Syndrome

Articles related to Potocki-Lupski Syndrome:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. 57 25 61
21981782 2011
2
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. 57 25 61
20188345 2010
3
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. 57 25 61
17357070 2007
4
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. 61 20 25
27617127 2015
5
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. 61 20 25
24311450 2014
6
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). 57 25
17024248 2006
7
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). 57 25
14709593 2004
8
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. 25 57
10615134 2000
9
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. 57 61
32656927 2020
10
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. 61 57
18469339 2008
11
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. 25 61
26544804 2015
12
Potocki-Lupski syndrome in conjunction with bilateral clubfoot. 25 61
25768679 2015
13
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. 61 25
23624966 2013
14
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. 61 25
22639462 2012
15
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
16
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. 61 25
21168152 2011
17
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. 25 61
21271656 2011
18
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. 61 25
21271655 2011
19
Genomic and clinical characteristics of microduplications in chromosome 17. 57
20425816 2010
20
Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). 61 25
20110824 2010
21
Potocki-Lupski syndrome mimicking a connective tissue disorder. 61 25
18541972 2008
22
Three new patients with dup(17)(p11.2p11.2) without autism. 57
18218042 2008
23
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. 57
15148657 2004
24
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. 57
14639526 2003
25
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. 57
12724422 2003
26
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. 57
12375235 2002
27
Genome architecture, rearrangements and genomic disorders. 57
11818139 2002
28
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? 57
8725788 1996
29
Somatic mosaicism: implications for disease and transmission genetics. 25
25910407 2015
30
Cardiovascular findings in duplication 17p11.2 syndrome. 25
22237436 2012
31
Structural variation in the human genome and its role in disease. 25
20059347 2010
32
Mechanisms of change in gene copy number. 25
19597530 2009
33
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. 25
19543269 2009
34
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. 25
15746153 2005
35
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. 25
11997339 2002
36
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). 25
1746552 1991
37
Intranasal Immunization with Peptide-based Immunogenic Complex Enhances BCG Vaccine Efficacy in murine model of Tuberculosis. 61
33444288 2021
38
Genome-wide association study reveals a patatin-like lipase relating to the reduction of seed oil content in Brassica napus. 61
33407143 2021
39
Observation of Preferential Pathways for Oxygen Removal through Porous Transport Layers of Polymer Electrolyte Water Electrolyzers. 61
33294791 2020
40
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy. 61
32555312 2020
41
Thyroid lymphoproliferative lesions in Asia. 61
33224858 2020
42
Neurological phenotype of Potocki-Lupski syndrome. 61
33043631 2020
43
Transfusion of ABO non-identical platelets increases the severity of trauma patients at ICU admission. 61
32798060 2020
44
Clinical features associated with high pathological grade in primary thyroid lymphoma. 61
31974002 2020
45
Prediction of Tumor Grade and Nodal Status in Oropharyngeal and Oral Cavity Squamous-cell Carcinoma Using a Radiomic Approach. 61
31892576 2020
46
Effects of Acute Experimental Stress on Pain Sensitivity and Cortisol Levels in Healthy Participants: A Randomized Crossover Pilot Study. 61
32870957 2020
47
Enhancing Enzyme-Mediated Cellulose Hydrolysis by Incorporating Acid Groups Onto the Lignin During Biomass Pretreatment. 61
33282856 2020
48
[A boy with abdominal pain and a hypertympanic abdomen]. 61
32186814 2020
49
Hashimoto Thyroiditis in Primary Thyroid Non-Hodgkin Lymphoma. 61
31584614 2020
50
Flow cytometric, gene rearrangement, and karyotypic analyses of 110 cases of primary thyroid lymphoma: a single-institutional experience in Japan. 61
31484843 2019

Variations for Potocki-Lupski Syndrome

ClinVar genetic disease variations for Potocki-Lupski Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NT5M arr[hg19]17p11.2(16,757,111-20,219,651)x3 Duplication Pathogenic 496743 17:16757111-20219651
2 FLCN NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) SNV Pathogenic 253251 rs879255678 17:17118502-17118502 17:17215188-17215188
3 FLCN NM_144997.7(FLCN):c.49dup (p.Arg17fs) Duplication Pathogenic 429820 rs758385503 17:17131402-17131403 17:17228088-17228089
4 FLCN NM_144997.7(FLCN):c.779+1G>T SNV Likely pathogenic 231274 rs758175953 17:17125814-17125814 17:17222500-17222500
5 FLCN NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) SNV Uncertain significance 322061 rs748878853 17:17118501-17118501 17:17215187-17215187
6 FLCN NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) SNV Uncertain significance 529982 rs772207015 17:17118622-17118622 17:17215308-17215308
7 FLCN NM_144997.7(FLCN):c.451G>A (p.Val151Met) SNV Uncertain significance 460616 rs147164515 17:17127403-17127403 17:17224089-17224089
8 FLCN NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) SNV Uncertain significance 134423 rs556510460 17:17131318-17131318 17:17228004-17228004
9 FLCN NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) SNV Uncertain significance 409403 rs774358971 17:17127319-17127319 17:17224005-17224005

Copy number variations for Potocki-Lupski Syndrome from CNVD:

7 (show all 11)
# CNVD ID Chromosome 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 duplication 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

Biological processes related to Potocki-Lupski Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of respiratory gaseous exchange by neurological system process GO:0002087 8.62 NLGN3 MECP2

Sources for Potocki-Lupski Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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