PTLS
MCID: PTC002
MIFTS: 48

Potocki-Lupski Syndrome (PTLS)

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

Aliases & Classifications for Potocki-Lupski Syndrome

MalaCards integrated aliases for Potocki-Lupski Syndrome:

Name: Potocki-Lupski Syndrome 56 12 24 52 25 58 29 13 6 43 15 71
Ptls 56 24 52 25
Chromosome 17p11.2 Duplication Syndrome 56 12 25
17p11.2 Microduplication Syndrome 12 25 58
Duplication 17p11.2 Syndrome 24 52 25
Trisomy 17p11.2 12 58
Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) 52
Chromosome 17, Trisomy 17p11 2 71
17p11.2 Duplication Syndrome 25
Dup(17)(p11.2p11.2) 25
Pls 25

Characteristics:

OMIM:

56
Miscellaneous:
variable phenotype
contiguous gene duplication syndrome

Inheritance:
isolated cases


HPO:

31
potocki-lupski syndrome:
Inheritance sporadic


GeneReviews:

24
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

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. 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 alacrima, achalasia, and mental retardation syndrome and autism spectrum disorder. An important gene associated with Potocki-Lupski Syndrome is FLCN (Folliculin). The drugs Levomilnacipran and Milnacipran have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are global developmental delay 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.

NIH Rare Diseases : 52 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 : 56 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 : 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 266)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 31.5 TCF20 RAI1 NLGN3 MECP2
2 autism spectrum disorder 31.1 TCF20 RAI1 PRODH NLGN3 MECP2
3 smith-magenis syndrome 30.7 TCF20 RAI1 MECP2 LOC108745276 LOC108745275 LOC106020712
4 pervasive developmental disorder 30.7 TCF20 PRODH NLGN3 MECP2 APPL1
5 chromosomal duplication syndrome 30.2 TCF20 RIBC1 RAI1 PRODH PRDM9 MECP2
6 primary lateral sclerosis, adult, 1 12.4
7 papillon-lefevre syndrome 12.4
8 platelet groups--pl system 12.2
9 lateral sclerosis 12.2
10 primary lateral sclerosis, juvenile 12.1
11 yuan-harel-lupski syndrome 11.9
12 motor neuron disease 11.5
13 pityriasis lichenoides 11.5
14 pleomorphic liposarcoma 11.5
15 enthesopathy 11.5
16 pancreatic lipase deficiency 11.3
17 haim-munk syndrome 11.3
18 xanthomatosis 11.2
19 skin tag 11.2
20 proteus-like syndrome 11.2
21 hypotonia 10.9
22 infantile hypotonia 10.8
23 autism 10.7
24 sleep apnea 10.6
25 dysphagia 10.5
26 stereotypic movement disorder 10.4 PRODH MECP2
27 valproate embryopathy 10.4 NLGN3 MECP2
28 charcot-marie-tooth disease 10.4
29 tooth disease 10.4
30 alport syndrome 10.4
31 chiari malformation type ii 10.4
32 oculocerebral syndrome with hypopigmentation 10.4
33 clubfoot 10.4
34 sleep disorder 10.4
35 learning disability 10.4
36 periodic limb movement disorder 10.4
37 hypoplastic left heart syndrome 10.4
38 hypoglycemia 10.4
39 chiari malformation 10.4
40 chromosomal triplication 10.4
41 growth hormone deficiency 10.4
42 farsightedness 10.4
43 allergic encephalomyelitis 10.4
44 childhood disintegrative disease 10.3 NLGN3 MECP2
45 chromosomal deletion syndrome 10.3 RAI1 PRODH MECP2
46 amyotrophic lateral sclerosis 1 10.3
47 ischemia 10.3
48 echolalia 10.3 NLGN3 MECP2
49 x-linked monogenic disease 10.3 PRODH NLGN3 MECP2
50 atypical autism 10.3 NLGN3 MECP2

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 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
6 autism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000717
7 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
8 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
9 sleep apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0010535
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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
15 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
19 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
20 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
21 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
22 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
23 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
24 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
25 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
26 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
27 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
28 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
29 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
30 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
31 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
32 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
33 abnormality of dental morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0006482
34 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
35 hypothyroidism 31 occasional (7.5%) HP:0000821
36 mandibular prognathia 31 HP:0000303
37 dental malocclusion 31 HP:0000689
38 smooth philtrum 31 HP:0000319
39 feeding difficulties in infancy 31 HP:0008872
40 stereotypy 31 HP:0000733
41 abnormality of the cardiovascular system 31 HP:0001626
42 malformation of the heart and great vessels 58 Frequent (79-30%)
43 high palate 31 HP:0000218
44 dental crowding 31 HP:0000678
45 abnormality of the pharynx 58 Very frequent (99-80%)
46 hypocholesterolemia 31 HP:0003146
47 trigonocephaly 31 HP:0000243
48 poor eye contact 31 HP:0000817
49 small for gestational age 31 HP:0001518
50 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
hypermetropia
downslanting palpebral fissures

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

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

Respiratory:
sleep apnea

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)

Head And Neck Face:
smooth philtrum
micrognathia
triangular face

Growth Other:
failure to thrive

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

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

Drugs & Therapeutics for Potocki-Lupski Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levomilnacipran Approved, Investigational 96847-54-0
2
Milnacipran Approved, Investigational 92623-85-3 65833
3
Norepinephrine Approved 51-41-2 439260
4
Cycloserine Approved 68-41-7 401 6234
5 Antitubercular Agents
6 Anti-Infective Agents
7 Analgesics, Non-Narcotic
8 Antidepressive Agents
9 Psychotropic Drugs
10 Anti-Bacterial Agents
11 Analgesics
12 Serotonin and Noradrenaline Reuptake Inhibitors
13 Neurotransmitter Agents
14 Antibiotics, Antitubercular
15 Antimetabolites
16
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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, Eye, Kidney, Thyroid, T Cells, Lung, Testes

Publications for Potocki-Lupski Syndrome

Articles related to Potocki-Lupski Syndrome:

(show top 50) (show all 158)
# Title Authors PMID Year
1
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. 24 61 56
21981782 2011
2
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. 61 56 24
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. 61 56 24
17357070 2007
4
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. 24 52 61
27617127 2015
5
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. 52 61 24
24311450 2014
6
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). 24 56
17024248 2006
7
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). 24 56
14709593 2004
8
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. 24 56
10615134 2000
9
Potocki-Lupski Syndrome 61 6
28837307 2017
10
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. 56 61
18469339 2008
11
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. 24 61
26544804 2015
12
Potocki-Lupski syndrome in conjunction with bilateral clubfoot. 61 24
25768679 2015
13
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. 24 61
23624966 2013
14
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. 24 61
22639462 2012
15
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
16
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. 24 61
21168152 2011
17
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. 24 61
21271655 2011
18
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. 61 24
21271656 2011
19
Genomic and clinical characteristics of microduplications in chromosome 17. 56
20425816 2010
20
Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). 24 61
20110824 2010
21
Potocki-Lupski syndrome mimicking a connective tissue disorder. 61 24
18541972 2008
22
Three new patients with dup(17)(p11.2p11.2) without autism. 56
18218042 2008
23
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. 56
15148657 2004
24
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. 56
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. 56
12724422 2003
26
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. 56
12375235 2002
27
Genome architecture, rearrangements and genomic disorders. 56
11818139 2002
28
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? 56
8725788 1996
29
Somatic mosaicism: implications for disease and transmission genetics. 24
25910407 2015
30
Cardiovascular findings in duplication 17p11.2 syndrome. 24
22237436 2012
31
Structural variation in the human genome and its role in disease. 24
20059347 2010
32
Mechanisms of change in gene copy number. 24
19597530 2009
33
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. 24
19543269 2009
34
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. 24
15746153 2005
35
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. 24
11997339 2002
36
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). 24
1746552 1991
37
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy. 61
32555312 2020
38
Clinical features associated with high pathological grade in primary thyroid lymphoma. 61
31974002 2020
39
[A boy with abdominal pain and a hypertympanic abdomen]. 61
32186814 2020
40
Prediction of Tumor Grade and Nodal Status in Oropharyngeal and Oral Cavity Squamous-cell Carcinoma Using a Radiomic Approach. 61
31892576 2020
41
Hashimoto Thyroiditis in Primary Thyroid Non-Hodgkin Lymphoma. 61
31584614 2020
42
Flow cytometric, gene rearrangement, and karyotypic analyses of 110 cases of primary thyroid lymphoma: a single-institutional experience in Japan. 61
31484843 2019
43
Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. 61
31342617 2019
44
First-line therapy for T cell lymphomas: a retrospective population-based analysis of 906 T cell lymphoma patients. 61
31065733 2019
45
Stimulant and Antipsychotic Use for Symptom Management of a Patient With Potocki Lupski Syndrome: Case Report. 61
31188237 2019
46
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. 61
31066191 2019
47
SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing. 61
30989231 2019
48
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. 61
30819258 2019
49
Fine needle aspiration of giant cell tumor involving thyroid gland: A case report of an unprecedented entity. 61
30146712 2018
50
Depressive Symptoms and Suicidal Ideation Among Symptomatic Patients With a History of Lyme Disease vs Two Comparison Groups. 61
29606281 2018

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 subset of 49 genes: FLCN , RAI1 arr[hg19]17p11.2(16,757,111-20,219,651)x3duplication 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.779+1G>TSNV Pathogenic/Likely pathogenic 231274 rs758175953 17:17125814-17125814 17:17222500-17222500
4 FLCN NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)SNV Conflicting interpretations of pathogenicity 134423 rs556510460 17:17131318-17131318 17:17228004-17228004
5 FLCN NM_144997.7(FLCN):c.451G>A (p.Val151Met)SNV Uncertain significance 460616 rs147164515 17:17127403-17127403 17:17224089-17224089
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.1430G>A (p.Arg477Gln)SNV Uncertain significance 322061 rs748878853 17:17118501-17118501 17:17215187-17215187

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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