PVL
MCID: PRV004
MIFTS: 52

Periventricular Leukomalacia (PVL)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Periventricular Leukomalacia

MalaCards integrated aliases for Periventricular Leukomalacia:

Name: Periventricular Leukomalacia 12 73 20 53 58 6 15 17
Leukomalacia, Periventricular 44 70
Leukomalacia Periventricular 54
Pvl 20

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13088
ICD9CM 34 779.7
MeSH 44 D007969
NCIt 50 C99013
SNOMED-CT 67 230769007
ICD10 32 P91.2
MESH via Orphanet 45 D007969
ICD10 via Orphanet 33 P91.2
UMLS via Orphanet 71 C0023529
Orphanet 58 ORPHA171676
UMLS 70 C0023529

Summaries for Periventricular Leukomalacia

NINDS : 53 Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.

MalaCards based summary : Periventricular Leukomalacia, also known as leukomalacia, periventricular, is related to cerebral palsy and chorioamnionitis. An important gene associated with Periventricular Leukomalacia is MCOLN1 (Mucolipin TRP Cation Channel 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Th17 cell differentiation. The drugs Magnesium Sulfate and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and cortex, and related phenotypes are homeostasis/metabolism and growth/size/body region

GARD : 20 Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the area around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.

Wikipedia : 73 Periventricular leukomalacia (PVL) is a form of white-matter brain injury, characterized by the necrosis... more...

Related Diseases for Periventricular Leukomalacia

Diseases related to Periventricular Leukomalacia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 297)
# Related Disease Score Top Affiliating Genes
1 cerebral palsy 31.6 TNF SLC1A2 NOS2 IL6 IL18
2 chorioamnionitis 31.2 TNF IL6 IL1R1 IL18
3 brain injury 30.8 MBP IL6 EPO
4 hydrocephalus 30.7 TNF NES MBP APP
5 listeriosis 30.5 TNF IL6 IL18
6 toxic shock syndrome 30.2 TNF NOS2 IL6 IL1R1
7 ischemia 30.2 SLC1A2 NOS2 EPO APP
8 brain edema 30.2 SLC1A2 NOS2 IL6
9 aphthous stomatitis 30.1 TNF IL6 IL18
10 fasciitis 30.1 TNF IL6 IL18
11 cellulitis 30.1 TNF IL6 IL1R1
12 proteasome-associated autoinflammatory syndrome 1 30.0 TNF NOS2 IL6 IL1R1 IL18
13 mastitis 29.9 IL6 IL1R1 IL18
14 adult respiratory distress syndrome 29.9 TNF NOS2 IL6 IL1R1
15 proliferative verrucous leukoplakia 11.2
16 congenital disorder of glycosylation with defective fucosylation 2 11.2
17 fetal indomethacin syndrome 11.2
18 spastic diplegia 10.7
19 quadriplegia 10.6
20 strabismus 10.5
21 spastic quadriplegia 10.5
22 mechanical strabismus 10.5
23 external pathological resorption 10.5 TNF IL6
24 west syndrome 10.4
25 pre-eclampsia 10.4
26 scorpion envenomation 10.4 TNF IL6
27 physiological polycythemia 10.4 TNF IL6
28 patent ductus arteriosus 1 10.4
29 spastic cerebral palsy 10.4
30 pathologic nystagmus 10.4
31 bronchopulmonary dysplasia 10.4
32 vibrio vulnificus infection 10.4 IL6 EPO
33 idiopathic anterior uveitis 10.4 TNF IL6
34 streptococcal toxic-shock syndrome 10.4 TNF IL6
35 angioimmunoblastic lymphadenopathy with dysproteinemia 10.4 TNF IL6
36 pneumonia 10.4
37 enterocolitis 10.4
38 cerebral visual impairment 10.4
39 cardiogenic shock 10.4 TNF IL6
40 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.4 NES MBP
41 spotted fever rickettsiosis 10.4 TNF NOS2
42 exudative vitreoretinopathy 1 10.3
43 hemiplegia 10.3
44 perinatal necrotizing enterocolitis 10.3
45 cerebral atrophy 10.3
46 seizure disorder 10.3
47 uremic pruritus 10.3 IL6 IL18
48 null-cell leukemia 10.3 TNF IL6
49 iritis 10.3 TNF IL6 EPO
50 stachybotrys chartarum 10.3 TNF IL6 IL18

Graphical network of the top 20 diseases related to Periventricular Leukomalacia:



Diseases related to Periventricular Leukomalacia

Symptoms & Phenotypes for Periventricular Leukomalacia

MGI Mouse Phenotypes related to Periventricular Leukomalacia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 ALOX15 APP ARID1A EPO GRM1 IL18
2 growth/size/body region MP:0005378 10.34 ALOX15 APP ARID1A GRM1 IL18 IL1R1
3 cardiovascular system MP:0005385 10.3 ALOX15 APP ARID1A EPO IL18 IL1R1
4 cellular MP:0005384 10.29 ALOX15 APP ARID1A EPO GRM1 IL18
5 mortality/aging MP:0010768 10.27 ALOX15 APP ARID1A EPO GRM1 IL18
6 hematopoietic system MP:0005397 10.26 ALOX15 APP ARID1A EPO IL18 IL18R1
7 immune system MP:0005387 10.21 ALOX15 APP ARID1A EPO IL18 IL18R1
8 integument MP:0010771 10.1 ALOX15 APP EPO GRM1 IL18 IL1R1
9 muscle MP:0005369 10.1 APP ARID1A EPO GRM1 IL18 IL1R1
10 nervous system MP:0003631 10 ALOX15 APP ARID1A GRM1 IL18 IL1R1
11 neoplasm MP:0002006 9.8 ALOX15 ARID1A GRM1 IL1R1 IL6 NOS2
12 reproductive system MP:0005389 9.65 ALOX15 APP ARID1A GRM1 IL6 MBP
13 vision/eye MP:0005391 9.36 ALOX15 ARID1A GRM1 IL18 IL1R1 IL6

Drugs & Therapeutics for Periventricular Leukomalacia

Drugs for Periventricular Leukomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
2
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
3 Anti-Arrhythmia Agents Phase 3
4 Anesthetics Phase 3
5 Anticonvulsants Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9 Anti-Asthmatic Agents Phase 2, Phase 3
10 Respiratory System Agents Phase 2, Phase 3
11 Vasodilator Agents Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Antioxidants Phase 2, Phase 3
14 Bronchodilator Agents Phase 2, Phase 3
15 Endothelium-Dependent Relaxing Factors Phase 2, Phase 3
16 Acidophilus Phase 3
17
Calcium Nutraceutical Phase 3 7440-70-2 271
18
Cefoxitin Approved Phase 2 35607-66-0 441199
19
Cefotaxime Approved Phase 2 63527-52-6 456256 5742673
20
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
21
Indomethacin Approved, Investigational Phase 1, Phase 2 53-86-1 3715
22
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
23
Mineral oil Approved, Vet_approved Phase 2 8042-47-5
24
Calcium polycarbophil Approved Phase 2 126040-58-2
25 Antibiotics, Antitubercular Phase 2
26 Anti-Bacterial Agents Phase 2
27 Gentamicins Phase 2
28 Antitubercular Agents Phase 2
29 Anti-Infective Agents Phase 2
30 Pharmaceutical Solutions Phase 1, Phase 2
31 Analgesics Phase 1, Phase 2
32 Tocolytic Agents Phase 1, Phase 2
33 Hormones Phase 2
34 Analgesics, Non-Narcotic Phase 1, Phase 2
35 Antirheumatic Agents Phase 1, Phase 2
36 Cyclooxygenase Inhibitors Phase 1, Phase 2
37 Anti-Inflammatory Agents Phase 1, Phase 2
38 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
39 Hormone Antagonists Phase 2
40 Progestins Phase 2
41 Psyllium Phase 2
42 Carbopol 940 Phase 2
43 Epoetin alfa Phase 2 113427-24-0
44 Hematinics Phase 2
45
tannic acid Approved 1401-55-4
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47 Pulmonary Surfactants

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Effect of Magnesium Sulfate on the Incidence of Periventricular Leukomalacia in the Very Preterm Neonate Completed NCT00120588 Phase 4 magnesium
2 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
3 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
4 Randomized Clinical Trial of the Beneficial Effects of Antenatal Magnesium Sulfate (BEAM) Completed NCT00014989 Phase 3 magnesium sulfate
5 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
6 Clinical Trial for the Prevention of Premature Birth and Neonatal Related Morbidity Terminated NCT00303082 Phase 3 Lactobacillus rhamnosus GR1 and Lactobacillus reuteri RC-14
7 Early Treatment With Recombinant Erythropoietin for Neuroprotection in Very Preterm Infants: Comparison of High and Low Dose Unknown status NCT00910234 Phase 1, Phase 2 recombinant human erythropoietin (rhEpo);recombinant human erythropoietin (rhEpo);Normal saline
8 Antibiotic Effects on the Developing Microbiome, Metabolome and Morbidities in Preterm Neonates Completed NCT02784821 Phase 2 Antibiotic;Antibiotics - pre-emptive
9 Neuroprotective Effect of High Dose Erythropoietin in Very Preterm Infants Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline
10 Indomethacin and Delayed Umbilical Cord Clamp for Preterm Infant IVH Active, not recruiting NCT02221219 Phase 1, Phase 2 Indomethacin;placebo infusion
11 Randomized Trial of Maternal Progesterone Therapy to Improve Neurodevelopmental Outcomes in Infants With Congenital Heart Disease Active, not recruiting NCT02133573 Phase 2 Progesterone;Vaginal lubricant
12 High-Dose Erythropoietin in Very Low Birth Weight Infants for the Potential Treatment of Prematurity-Related Cerebral Hemorrhagic-Ischemic Injury: A Phase II Safety/Tolerability Study Terminated NCT00589953 Phase 2 Erythropoietin;Saline placebo
13 S100B as a Marker of Brain Injury of Preterm Infants Unknown status NCT02082535
14 Telerehabilitation of Working Memory in Children With Periventricular Leukomalacia and Bilateral Cerebral Palsy, a Neuropsychological and Electrophysiological (High-density EEG) Study Completed NCT02342990
15 Umbilical Cord Blood Proteomic Analysis and Neonatal Brain Injury Completed NCT00375908
16 Randomized Trial of Liberal Versus Restrictive Guidelines for Red Blood Cell Transfusion in Preterm Infants Completed NCT00369005
17 In Utero Magnesium Sulfate Exposure: Effects on Extremely-Low-Birth-Weight (ELBW) Infants Completed NCT01203501
18 Effects of Single-session Transcranial Direct Current Stimulation in Children With Cerebral Palsy Completed NCT03635775
19 A Novel Parent Education Program for Early Intervention Completed NCT04266717
20 Minimal Invasive Surfactant Administration to Treat Neonatal Respiratory Distress Syndrome: a Multicenter Clinical Study in China Completed NCT04077333
21 A Randomized Clinical Trial of Infant Treadmill for Long-term Neurodevelopmental Evaluation of Neonatal Encephalopathy Recruiting NCT03527498
22 Diastolic Closing Margin Predicts Brain Injury in Premature Infants Recruiting NCT02814383
23 Evaluation of Long-Term Gait Development in Infants With Neonatal Encephalopathy Using Infant Treadmill Recruiting NCT03534466
24 Randomized Controlled Trial of Early Intensive Leg Exercise to Improve Walking in Children With Diplegia From Encephalopathy of Prematurity Recruiting NCT03672877
25 Sonographic Quantification of Venous Circulation in the Preterm Brain Not yet recruiting NCT04535375
26 Physiological Disturbances Associated With Neonatal Intraventricular Hemorrhage Terminated NCT00665769

Search NIH Clinical Center for Periventricular Leukomalacia

Cochrane evidence based reviews: leukomalacia, periventricular

Genetic Tests for Periventricular Leukomalacia

Anatomical Context for Periventricular Leukomalacia

MalaCards organs/tissues related to Periventricular Leukomalacia:

40
Brain, Heart, Cortex, Fetal Brain, Lung, Eye, Cerebellum

Publications for Periventricular Leukomalacia

Articles related to Periventricular Leukomalacia:

(show top 50) (show all 2099)
# Title Authors PMID Year
1
Altered nestin expression in the cerebrum with periventricular leukomalacia. 61 54
17352950 2007
2
Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia. 54 61
12524179 2003
3
Early detection of axonal and neuronal lesions in prenatal-onset periventricular leukomalacia. 54 61
9408595 1997
4
Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin. 61 54
8947955 1996
5
Expression of beta-amyloid precursor protein in axons of periventricular leukomalacia brains. 61 54
8534283 1995
6
Diagnostic Specificity of Cerebral Magnetic Resonance Imaging for Punctate White Matter Lesion Assessment in a Preterm Sheep Fetus Model. 61
33237519 2021
7
Exclusive human milk diet reduces incidence of severe intraventricular hemorrhage in extremely low birth weight infants. 61
32999446 2021
8
Antenatal prediction models for short- and medium-term outcomes in preterm infants. 61
33656762 2021
9
Outcomes of outborn very-low-birth-weight infants in Japan. 61
32788390 2021
10
Factors affecting psychosocial development of very low birth weight infants at 18 and 36 months of age. 61
33665960 2021
11
Evaluation of the Arabin cervical pessary for prevention of preterm birth in women with a twin pregnancy and short cervix (STOPPIT-2): An open-label randomised trial and updated meta-analysis. 61
33780463 2021
12
Outcome of early-onset fetal growth restriction with or without abnormal umbilical artery Doppler flow. 61
33690882 2021
13
Dystonia assessment in children with cerebral palsy and periventricular leukomalacia. 61
33743389 2021
14
Superficial anatomy of the neonatal cerebrum - an ultrasonographic roadmap. 61
33026469 2021
15
Variability in Cerebral Palsy Diagnosis. 61
33402528 2021
16
Periventricular leukomalacia mimicking normal-tension glaucoma: a case report. 61
33689645 2021
17
Melatonin for the prevention of fetal injury associated with intrauterine inflammation. 61
33583108 2021
18
Outcome of very preterm infants delivered outside tertiary perinatal centers in China: a multi-center cohort study. 61
33708516 2021
19
IgM and IgA enriched polyclonal immunoglobulins reduce short term mortality in extremely low birth weight infants with sepsis: a retrospective cohort study. 61
29460549 2021
20
HIFα Regulates Developmental Myelination Independent of Autocrine Wnt Signaling. 61
33208471 2021
21
Magnetic Resonance Imaging Findings in Childhood Epilepsy at a Tertiary Hospital in Kenya. 61
33643201 2021
22
Gait features of dystonia in cerebral palsy. 61
33411352 2021
23
Evaluation of the relationship between cranial magnetic resonance imaging findings and clinical status in children with cerebral palsy. 61
33460326 2021
24
Cortical thickness of primary visual cortex correlates with motion deficits in periventricular leukomalacia. 61
33333138 2021
25
Factors Associated With Benefit of Treatment of Patent Ductus Arteriosus in Preterm Infants: A Systematic Review and Meta-Analysis. 61
33634058 2021
26
Impact of early glycemic variability on mortality and neurologic outcome of very low birth weight infants: Data from a continuous glucose monitoring system. 61
33759422 2021
27
Mortality and Morbidity in Premature Infants: An East and West Comparative Study. 61
33486747 2021
28
[Clinical effect of an additional maintenance dose of caffeine before ventilator weaning in preterm infants with respiratory distress syndrome: a prospective randomized controlled trial]. 61
33476534 2021
29
Outcome of monochorionic twin pregnancy complicated by Type-III selective intrauterine growth restriction. 61
33073883 2021
30
Neonatal outcomes of extremely preterm twins by sex pairing: an international cohort study. 61
32451356 2021
31
Impact of being large-for-gestational-age on neonatal mortality and morbidities in extremely premature infants. 61
33504968 2021
32
Perinatal determinants of growth trajectories in children born preterm. 61
33507964 2021
33
Comparative efficacy of methods for surfactant administration: a network meta-analysis. 61
33452218 2021
34
Temporizing management vs immediate delivery in early-onset severe preeclampsia between 28 and 34 weeks of gestation (TOTEM study): An open-label randomized controlled trial. 61
33319930 2021
35
Antenatal corticosteroid therapy is associated with a lower risk of cystic periventricular leukomalacia. 61
33484164 2021
36
Identifying of 22q11.2 variations in Chinese patients with development delay. 61
33482818 2021
37
Mortality and neurological outcomes in extremely and very preterm infants born to mothers with hypertensive disorders of pregnancy. 61
33462302 2021
38
Risk Factors for Hydrocephalus in Neonatal Purulent Meningitis: A Single-Center Retrospective Analysis. 61
33393419 2021
39
Amniotic fluid stem cells as a novel strategy for the treatment of fetal and neonatal neurological diseases. 61
33461069 2021
40
Prophylactic inhibition of NF-κB expression in microglia leads to attenuation of hypoxic ischemic injury of the immature brain. 61
33261624 2020
41
Prognostic value of diffusion-weighted magnetic resonance imaging of brain in fetal growth restriction: results of prospective multicenter study. 61
31765031 2020
42
Timing of Antenatal Steroid Administration and Effects on the Newborn Infant: A Retrospective Study. 61
33285604 2020
43
Short-term outcome of very low-birth-weight infants in a tertiary care hospital in Saudi Arabia over a decade. 61
33337393 2020
44
The Prognosis of Preterm Infants Born at the Threshold of Viability: Fog Over the Gray Zone - Population-Based Studies of Extremely Preterm Infants. 61
33298824 2020
45
Respiratory Severity Score greater than or equal to 2 at birth is associated with an increased risk of mortality in infants with birth weights less than or equal to 1250 g. 61
32915498 2020
46
Survey on Children with Cerebral Palsy in Tochigi Prefecture, Japan. 61
33176036 2020
47
S100B as a biomarker of brain injury in premature neonates. A prospective case - control longitudinal study. 61
32941837 2020
48
Disruption and Compensation of Sulcation-based Covariance Networks in Neonatal Brain Growth after Perinatal Injury. 61
32656563 2020
49
Preterm infants with severe brain injury demonstrate unstable physiological responses during maternal singing with music therapy: a randomized controlled study. 61
33244709 2020
50
Assessment of risk factors for cystic periventricular leukomalacia. 61
32924259 2020

Variations for Periventricular Leukomalacia

ClinVar genetic disease variations for Periventricular Leukomalacia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS6KC1 NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser) SNV Likely pathogenic 242892 rs61751035 GRCh37: 1:213415529-213415529
GRCh38: 1:213242186-213242186
2 TMCO1 NM_019026.4(TMCO1):c.646_647del (p.Ala216fs) Deletion Likely pathogenic 598949 rs1558027212 GRCh37: 1:165697333-165697334
GRCh38: 1:165728096-165728097
3 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) SNV Likely pathogenic 523488 rs375761808 GRCh37: 1:27102164-27102164
GRCh38: 1:26775673-26775673
4 MCOLN1 NM_020533.3(MCOLN1):c.777+1G>C SNV Likely pathogenic 373935 rs1057518781 GRCh37: 19:7592847-7592847
GRCh38: 19:7527961-7527961
5 MCOLN1 NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) SNV Likely pathogenic 373936 rs1057518782 GRCh37: 19:7591465-7591465
GRCh38: 19:7526579-7526579
6 RPS6KC1 Deletion Likely pathogenic 242893 GRCh37: 1:213396378-213592823
GRCh38:
7 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) SNV Uncertain significance 198347 rs370932895 GRCh37: 7:21856224-21856224
GRCh38: 7:21816606-21816606

Expression for Periventricular Leukomalacia

Search GEO for disease gene expression data for Periventricular Leukomalacia.

Pathways for Periventricular Leukomalacia

Pathways related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 TNF NOS2 IL6 IL1R1 IL18R1 IL18
2
Show member pathways
12.47 TNF IL6 IL1R1 IL18R1 IL18
3
Show member pathways
12.45 TNF NOS2 IL6 IL18R1 IL18
4
Show member pathways
12.43 TNF NOS2 IL6 IL1R1 IL18R1 IL18
5
Show member pathways
12.24 TNF IL6 IL18R1 IL18
6
Show member pathways
12.23 TNF NOS2 IL6 IL1R1
7 12.13 TNF NOS2 IL6 IL18
8
Show member pathways
12.08 TNF NOS2 IL6 IL1R1
9
Show member pathways
11.81 NOS2 IL1R1 IL18R1 IL18
10 11.78 TNF IL6 IL18
11 11.77 PDHA1 NOS2 IL6 EPO
12 11.71 TNF NOS2 IL6 IL1R1
13 11.7 TNF IL1R1 IL18
14 11.67 TNF NOS2 IL6
15 11.66 TNF IL6 IL1R1 EPO
16 11.59 TNF NOS2 IL6
17
Show member pathways
11.57 TNF NOS2 IL6
18 11.52 TNF IL6 IL18
19 11.44 TNF IL6 IL18
20
Show member pathways
11.44 TNF IL6 IL18R1 IL18
21 11.43 TNF NOS2 MBP IL6 IL1R1
22 11.4 TNF NOS2 IL18
23 11.25 PDHA1 NOS2 EPO
24 11.24 TNF IL6 IL18
25 11.16 TNF IL6 IL18
26 11.15 TNF IL6 IL1R1 IL18
27 11.08 TNF NOS2 IL6 IL18 ALOX15

GO Terms for Periventricular Leukomalacia

Cellular components related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.1 TNF SLC1A2 MBP IL1R1 EPO APP

Biological processes related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 10.02 SLC1A2 NES MYT1 ARID1A APP
2 immune response GO:0006955 9.95 TNF MBP IL6 IL1R1 IL18R1 IL18
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.87 TNF EPO APP ALOX15
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 TNF IL18 EPO
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 TNF IL6 APP
6 regulation of insulin secretion GO:0050796 9.77 TNF NOS2 IL6
7 positive regulation of interleukin-6 production GO:0032755 9.76 TNF MBP IL6 APP
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.73 TNF IL6 IL18
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 TNF IL6 IL18 EPO
10 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 TNF IL6 IL18R1 IL18 APP
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.71 TNF IL18R1 IL18 APP
12 positive regulation of interleukin-1 beta production GO:0032731 9.7 TNF IL6 APP
13 response to interleukin-1 GO:0070555 9.69 IL1R1 EPO APP
14 positive regulation of chemokine production GO:0032722 9.67 TNF IL6 APP
15 positive regulation of interferon-gamma production GO:0032729 9.67 TNF IL1R1 IL18R1 IL18
16 cytokine-mediated signaling pathway GO:0019221 9.63 TNF NOS2 IL6 IL1R1 IL18 ALOX15
17 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.61 TNF MBP
18 response to salt stress GO:0009651 9.6 TNF EPO
19 L-glutamate import across plasma membrane GO:0098712 9.58 SLC1A2 GRM1
20 negative regulation of lipid storage GO:0010888 9.58 TNF IL6
21 interleukin-18-mediated signaling pathway GO:0035655 9.55 IL18R1 IL18
22 vascular endothelial growth factor production GO:0010573 9.54 TNF IL6
23 inflammatory response GO:0006954 9.5 TNF NOS2 IL6 IL1R1 IL18R1 IL18
24 positive regulation of neuroinflammatory response GO:0150078 9.43 TNF IL6 IL18
25 positive regulation of T-helper 1 cell cytokine production GO:2000556 8.8 IL1R1 IL18R1 IL18

Molecular functions related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 TNF IL6 IL18 EPO
2 interleukin-1 receptor activity GO:0004908 8.62 IL1R1 IL18R1

Sources for Periventricular Leukomalacia

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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