BPPX
MCID: PLY161
MIFTS: 42

Polymicrogyria, Bilateral Perisylvian, X-Linked (BPPX)

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

Aliases & Classifications for Polymicrogyria, Bilateral Perisylvian, X-Linked

MalaCards integrated aliases for Polymicrogyria, Bilateral Perisylvian, X-Linked:

Name: Polymicrogyria, Bilateral Perisylvian, X-Linked 57
Polymicrogyria, Bilateral Perisylvian 57 20 13
Perisylvian Syndrome, Congenital Bilateral 57 20
Congenital Bilateral Perisylvian Syndrome 20 6
Bilateral Perisylvian Polymicrogyria 20 58
Pmgx 57 20
Cbps 57 20
Perisylvian Syndrome, Congenital Bilateral; Cbps 57
Perisylvian Syndrome 20
Bppx 57
Bpp 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
extremely variable phenotype


HPO:

31
polymicrogyria, bilateral perisylvian, x-linked:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Polymicrogyria, Bilateral Perisylvian, X-Linked

GARD : 20 Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BPP is a subtype of a broader condition known as polymicrogyria. The cerebral cortex of the brain normally consists of several deep folds and grooves. In BPP, the grooves that develop during embryonic growth form improperly on both sides of the brain near the Sylvian fissure, resulting in an increased number of folds that are unusually small. Signs and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems with speech and swallowing; excessive drooling; and seizures. Mild to severe intellectual disability often is also present. Some people with BPP have other health problems or birth defects. Most cases of BPP occur sporadically in people with no family history of BPP. Rarely, more than one family member has BPP, and the pattern of inheritance depends on the cause. Genetic causes may include mutations in single genes and contiguous gene disorders such as 22q11.2 deletion syndrome. BPP has also been reported in association with twin pregnancy complications. The diagnosis of BPP is based on the symptoms present and a thorough neurological evaluation including various imaging techniques. Treatment aims to address individual symptoms present in each person. For example, anti-seizure medications may help control seizures. The quality of life and life expectancy for people with BPP are not well-described but may depend on severity of symptoms, whether complications develop, and whether other birth defects or an underlying syndrome are present.

MalaCards based summary : Polymicrogyria, Bilateral Perisylvian, X-Linked, also known as polymicrogyria, bilateral perisylvian, is related to neuronal migration disorders and periventricular nodular heterotopia. An important gene associated with Polymicrogyria, Bilateral Perisylvian, X-Linked is TUBA1A (Tubulin Alpha 1a). The drugs Ofloxacin and Levofloxacin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and tongue, and related phenotypes are bilateral perisylvian polymicrogyria and intellectual disability

OMIM® : 57 Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643). (300388) (Updated 05-Apr-2021)

Wikipedia : 73 Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disease characterized by... more...

Related Diseases for Polymicrogyria, Bilateral Perisylvian, X-Linked

Diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 neuronal migration disorders 29.8 TUBA1A ADGRG1
2 periventricular nodular heterotopia 29.5 TUBA1A SRPX2 ADGRG1
3 polymicrogyria 29.4 PI4KA ADGRG1
4 cerebellar hypoplasia 29.2 TUBA1A PI4KA
5 polymicrogyria, bilateral perisylvian, autosomal recessive 11.9
6 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.1
7 hypotonia 10.3
8 focal epilepsy 10.2
9 congenital amyoplasia 10.2
10 schizencephaly 10.2
11 intestinal atresia 10.2
12 pituitary hypoplasia 10.2
13 febrile seizures 10.2
14 septooptic dysplasia 10.1
15 3-hydroxyisobutyryl-coa hydrolase deficiency 10.1
16 peters-plus syndrome 10.1
17 alacrima, achalasia, and mental retardation syndrome 10.1
18 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 10.1
19 west syndrome 10.1
20 pulmonary hypertension 10.1
21 distal arthrogryposis 10.1
22 left ventricular noncompaction 10.1
23 microcephaly 10.1
24 hemiplegia 10.1
25 spinal muscular atrophy 10.1
26 status epilepticus 10.1
27 hereditary spastic paraplegia 10.1
28 holoprosencephaly 10.1
29 congestive heart failure 10.1
30 paraplegia 10.1
31 muscular atrophy 10.1
32 speech disorder 10.1
33 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 10.1
34 chromosomal triplication 10.1
35 seizure disorder 10.1
36 pseudobulbar palsy 10.1
37 pectus excavatum 10.0
38 suprabulbar paresis, congenital 10.0
39 pituitary hormone deficiency, combined, 2 10.0
40 ataxia and polyneuropathy, adult-onset 10.0
41 twin-to-twin transfusion syndrome 10.0
42 lennox-gastaut syndrome 10.0
43 spastic diplegia 10.0
44 hypothyroidism 10.0
45 cerebral palsy 10.0
46 dyslexia 10.0
47 placental abruption 10.0
48 central congenital hypothyroidism 10.0
49 dysphagia 10.0
50 eating reflex epilepsy 10.0

Graphical network of the top 20 diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked:



Diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked

Symptoms & Phenotypes for Polymicrogyria, Bilateral Perisylvian, X-Linked

Human phenotypes related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bilateral perisylvian polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0032407
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
7 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
8 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
9 eeg with polyspike wave complexes 58 31 frequent (33%) Frequent (79-30%) HP:0002392
10 distal arthrogryposis 58 31 frequent (33%) Frequent (79-30%) HP:0005684
11 eeg with central focal spikes 58 31 frequent (33%) Frequent (79-30%) HP:0012014
12 eeg with parietal focal spikes 58 31 frequent (33%) Frequent (79-30%) HP:0012017
13 perisylvian predominant thick cortex pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0020190
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 spastic tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002510
19 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
22 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
23 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
24 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
25 dysmetria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001310
26 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
27 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
28 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
29 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
30 paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002385
31 aspiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002835
32 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
33 pseudobulbar paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007024
34 ectopic posterior pituitary 58 31 occasional (7.5%) Occasional (29-5%) HP:0011755
35 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
36 cerebellar dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007033
37 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
38 oromotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007301
39 abnormality of masticatory muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0410011
40 focal sensory seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011157
41 eeg with frontal focal spikes 58 31 occasional (7.5%) Occasional (29-5%) HP:0012015
42 seizures 58 Frequent (79-30%)
43 spasticity 58 Frequent (79-30%)
44 dysarthria 58 Occasional (29-5%)
45 dysphagia 58 Occasional (29-5%)
46 flexion contracture 58 Frequent (79-30%)
47 cognitive impairment 31 HP:0100543
48 dyslexia 31 HP:0010522
49 polymicrogyria 31 HP:0002126
50 abnormality of neuronal migration 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
dyslexia
polymicrogyria
cognitive deficits
pseudobulbar palsy
more

Clinical features from OMIM®:

300388 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 8.92 ADGRG1 PI4KA SRPX2 TUBA1A

Drugs & Therapeutics for Polymicrogyria, Bilateral Perisylvian, X-Linked

Drugs for Polymicrogyria, Bilateral Perisylvian, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ofloxacin Approved Phase 3 82419-36-1 4583
2
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
5
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
6
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 77-92-9 311
9 Anti-Bacterial Agents Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11 Pharmaceutical Solutions Phase 2, Phase 3
12 Immunosuppressive Agents Phase 3
13 Immunologic Factors Phase 3
14 Etoposide phosphate Phase 3
15 Citrate Phase 2, Phase 3
16 Anticoagulants Phase 2, Phase 3
17 Cardioplegic Solutions Phase 2, Phase 3
18 Antirheumatic Agents Phase 3
19 Alkylating Agents Phase 3
20
Fluorouracil Approved Phase 2 51-21-8 3385
21 Acidophilus Phase 1, Phase 2
22 Sulfalene Phase 1, Phase 2
23 Bifidobacterium Phase 1, Phase 2
24 Angiogenesis Inhibitors Phase 2
25 Endostar protein Phase 2
26 Antimetabolites Phase 2
27 Liver Extracts Phase 1, Phase 2
28
Gemcitabine Approved Phase 1 95058-81-4 60750
29
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
30
Polyestradiol phosphate Approved Phase 1 28014-46-2
31
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
32
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
33
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
34 Folfirinox Phase 1
35 Integrase Inhibitors Phase 1
36 Anti-Retroviral Agents Phase 1
37 HIV Integrase Inhibitors Phase 1
38 Contraceptives, Oral Phase 1
39 Estradiol 3-benzoate Phase 1
40 Contraceptives, Oral, Combined Phase 1
41 Estradiol 17 beta-cypionate Phase 1
42 Contraceptive Agents Phase 1
43 Norgestimate, ethinyl estradiol drug combination Phase 1
44
Paclitaxel Approved, Vet_approved 33069-62-4 36314
45
Acetylcysteine Approved, Investigational 616-91-1 12035
46
tannic acid Approved 1401-55-4
47
Tocopherol Approved, Investigational 1406-66-2
48
Pentoxifylline Approved, Investigational 6493-05-6 4740
49
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
50
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 The Assessment of Progression of Paroxysmal Atrial Fibrillation in Patients After Coronary Artery Bypass Grafting Through Continuous Subcutaneous Monitoring Unknown status NCT02246803 Phase 3
2 Prospective, Multinational, Multicenter, Non-Comparative, Open Study With a 6 Months Follow-up Period to Demonstrate the Efficacy and Safety of Oral Levofloxacin 500 mg Once Daily in the Treatment of Chronic Bacterial Prostatitis (CBP) Completed NCT00277511 Phase 3 Levofloxacin
3 The Cardioprotective Effects of Adding Ozone To Cardioplegic Solution in Adult Cardiac Surgery Not yet recruiting NCT03876067 Phase 2, Phase 3 Ozone;Cardioplegic Solutions
4 A Phase III,Randomized, Multi-center, Open Label Study of Adjuvant Chemotherapy of Three-step Regimens (ACTS) in BRCA1/2 Wide-type Stage III and Stage IV Epithelial Ovarian, Fallopian Tube, and Primary Peritoneal Cancer (EOC, FTC, PPC) Not yet recruiting NCT04520074 Phase 3 Etoposide, Cyclophosphamide, Carboplatin/Cisplatin
5 Evaluación Del Efecto Del Suplemento Nutricional probiótico "Biopolis" Sobre la función Gastrointestinal Unknown status NCT02928484 Phase 1, Phase 2
6 a Randomized Controlled Study of Surgical Comprehensive Treatment for Different Types of Tumor Thrombi in the Portal Vein for Hepatocellular Carcinoma Patients Completed NCT00849264 Phase 2 chemotherapy with endostar;treatment with CBP and 5-FU;treatment with endostar, CBP and 5-FU
7 A Multicenter, Randomized, Double-blind, Placebo-controlled Phase II Clinical Trial to Evaluate the Efficacy and Safety of CBP-307 in Subjects With Moderate to Severe Ulcerative Colitis (UC) Recruiting NCT04700449 Phase 2 CBP-307;Placebo
8 Phase I / IIa Clinical Trial for Patients With Hepatitis C or B Virus Derived Liver Cirrhosis by CBP / β Catenin Inhibitor PRI-724 Recruiting NCT03620474 Phase 1, Phase 2 PRI-724
9 A Randomized, Double-Blind, Placebo-Controlled Multi-Centered Study of the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of CBP-201 in Adult Subjects With Moderate to Severe Atopic Dermatitis Recruiting NCT04444752 Phase 2 CBP-201;placebo
10 Phase II Clinical Trial of Anlotinib Combined With Etoposide and Platinum in the Treatment of Extensive Stage Small Cell Lung Cancer Recruiting NCT03841136 Phase 2 anlotinib
11 A Phase II,Randomized Study of Adjuvant Chemotherapy of Three-step Regimens (ACTS) in Stage IIIc and Stage IV Epithelial Ovarian, Fallopian Tube, and Primary Peritoneal Cancer (EOC, FTC, PPC) Active, not recruiting NCT02562365 Phase 2 Etoposide, Cyclophosphamide, Carboplatin
12 A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate CBP-201 in Adult Patients With Chronic Rhinosinusitis With Nasal Polyps Not yet recruiting NCT04783389 Phase 2 CBP-201;Placebo
13 A Multi-center, Randomized, Double-blind, Parallel Group, Placebo-controlled, Efficacy and Safety Study of CBP-201 in Patients With Moderate to Severe Persistent Asthma With Type 2 Inflammation Not yet recruiting NCT04773678 Phase 2 CBP-201;Placebo
14 Phase Ib Multicenter, Cohort Dose Escalation Trial to Determine the Safety, Tolerance and Preliminary Antineoplastic Activity of Gemcitabine Administered in Combination With Continuous Intravenous Doses of PRI-724, a CBP/ β- Catenin Inhibitor, to Patients With Advanced or Metastatic Pancreatic Adenocarcinoma Eligible for Second-Line Therapy After Failing First-Line Therapy With FOLFIRINOX (or FOLFOX) Completed NCT01764477 Phase 1 PRI-724
15 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Dose Escalation Study in Healthy Subjects to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CBP-307 Following Oral Single and Multiple Escalating Dose Administration Completed NCT02280434 Phase 1 CBP-307;Placebo
16 Heat Retention Head Wrap Use for Re-warming of Infants Requiring Cardio-Pulmonary Bypass Completed NCT01675830 Phase 1
17 A Phase Ia/Ib, Open-Label, Multi-center, First in Human and Expansion Study to Assess the Safety, Tolerance, and Pharmacokinetics of the Novel Antitumor Agent CBP-1008 in Patients With Advanced Solid Tumors Recruiting NCT04740398 Phase 1 CBP-1008
18 Phase I Clinical Trial of CBP/Beta-catenin Inhibitor OP-724 in Liver Cirrhosis Patients Caused by HIV/HCV Co-infection With Hemophilia. (OP-724-H101) Recruiting NCT04688034 Phase 1 OP-724
19 An Open-Label, Dose-Finding Study for the CBP / β-catenin Inhibitor OP-724 in Patients With Primary Biliary Cholangitis (Phase I) Recruiting NCT04047160 Phase 1 OP-724
20 A Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose Study in Healthy Subjects to Evaluate the Safety, Tolerability, and Pharmacokinetics of CBP-174 After Oral Administration Not yet recruiting NCT04811469 Phase 1 CBP-174 Dosage 1;Placebo to match CBP-174 Dosage 1;CBP-174 Dosage 2;Placebo to match CBP-174 Dosage 2;CBP-174 Dosage 3;Placebo to match CBP-174 Dosage 3;CBP-174 Dosage 4;Placebo to match CBP-174 Dosage 4;CBP-174 Dosage 5;Placebo to match CBP-174 Dosage 5;CBP-174 Dosage 6;Placebo to match CBP-174 Dosage 6
21 A Phase I, Single-center, Randomized, Double-blind, Double-dummy, Placebo- and Positive-Controlled Study to Investigate the Effects of CBP-307 on the QTc Interval in Healthy Subjects Not yet recruiting NCT04818229 Phase 1 CBP-307;Placebo-matched CBP-307;Moxifloxacin (Avelox);Placebo-matched Moxifloxacin
22 A Randomized Controlled Trial Comparing Unattended Automated Office Blood Pressure vs. Home Blood Pressure vs. Central Blood Pressure Monitoring for the Management of Hypertension Unknown status NCT03578848
23 Usefulness of Home Blood Pressure Measurement in the Morning in Type 2 Diabetic Patients : Long-term (10 Years) Results of a Prospective Longitudinal Study Unknown status NCT01557972
24 Randomized Controlled Trial of Psychoeducational and Hypnosis Interventions on the Fatigue Associated With Primary Biliary Cholangitis in Women (CBP-HOPE) Unknown status NCT03630718
25 Comparative Efficacy of Two Adjunctive Psychosocial Interventions (Mindfulness or Psychoeducation) Versus Treatment as Usual in Bipolar Patients With Subsyndromal Deppresive Symptoms: A Pilot Randomized Trial Unknown status NCT02133170
26 Usefulness of Home Blood Pressure Measurement in the Morning in Type 2 Diabetic Patients: Long-Term Results of a Prospective Longitudinal Study Completed NCT00760110
27 Hypothermic Versus Normothermic Cardiac Bypass in Patients Undergoing CABG Surgery, Effect on Coagulation; Randomized Controlled Trial Completed NCT04148404
28 Implementing Tobacco Use Treatment Guidelines in Dental Public Health Clinics Completed NCT01615237
29 TEE-guided Perventricular Device Closure Through Minithoracotomy vs Traditional Surgery Repair Via CBP in Treatment of Infundibular Ventricular Septal Defect:A Two-center Clinical Randomized Controlled Trial Completed NCT02361008
30 Influence of Cerebral Blood Supply During Cardiopulmonary Bypass on the Incidence of Postoperative Delirium in Open-heart Surgery Completed NCT03117712
31 Different Radiation Dose of Neoadjuvant Chemoradiation Followed By Surgery in Treating Patients With Locally Advanced, Resectable Thoracic Esophageal Cancer Recruiting NCT03381651
32 First in Human Surgical Implantation of Single Piece ADAPT® Treated 3D ALR (Aortic Leaflet Repair), Feasibility and Clinical Safety Study Recruiting NCT04178213
33 Preventing Amputations by Tailored Risk-based Intervention to Optimize Therapy Active, not recruiting NCT02356757
34 Open Clinical Trial of the Use of Antioxidants and Pentoxifylline as Adjuvant Therapy to Standard Therapy in Patients With and Without Septic Shock Secondary to COVID-19 Severe Pneumonia Active, not recruiting NCT04570254 Vitamin C;Vitamin E;Melatonin;N-acetyl cysteine;Pentoxifylline
35 Pilot Study of Metformin-induced CBP Phosphorylation at the Cellular Level and Corresponding Clinical Dose Response in Adults and Children Terminated NCT01876992 Metformin

Search NIH Clinical Center for Polymicrogyria, Bilateral Perisylvian, X-Linked

Genetic Tests for Polymicrogyria, Bilateral Perisylvian, X-Linked

Anatomical Context for Polymicrogyria, Bilateral Perisylvian, X-Linked

MalaCards organs/tissues related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

40
Brain, Cortex, Tongue, Liver, Pituitary

Publications for Polymicrogyria, Bilateral Perisylvian, X-Linked

Articles related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

(show all 23)
# Title Authors PMID Year
1
Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders. 20 57
17994559 2008
2
Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI. 57
18991192 2008
3
A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27. 57
18384144 2008
4
Genetic malformations of cortical development. 61 20
16724181 2006
5
Genetics of the polymicrogyria syndromes. 57
15863665 2005
6
A locus for bilateral perisylvian polymicrogyria maps to Xq28. 57
11822025 2002
7
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. 57
10894214 2000
8
Bilateral perisylvian polymicrogyria in three generations. 57
10371547 1999
9
Congenital bilateral perisylvian syndrome: first report in a Japanese patient. 57
8914634 1996
10
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. 57
8677028 1996
11
Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. 57
8010273 1994
12
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 57
8094839 1993
13
Developmental Foix-Chavany-Marie syndrome in identical twins. 57
3789677 1986
14
Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome. 20
24852949 2015
15
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 61
16240336 2005
16
Analysis of shape and positioning of the hippocampal formation: an MRI study in patients with partial epilepsy and healthy controls. 61
16014649 2005
17
Neuronal migration disorders, genetics, and epileptogenesis. 61
15921228 2005
18
Genetic malformations of the cerebral cortex and epilepsy. 61
15816977 2005
19
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
12185771 2002
20
Bilateral symmetrical frontoparietal polymicrogyria. 61
12374591 2002
21
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
11749114 2001
22
Epilepsy and genetic malformations of the cerebral cortex. 61
11579436 2001
23
[Bilateral perisylvian polymicrogyria/bilateral perisylvian syndrome]. 61
11043294 2000

Variations for Polymicrogyria, Bilateral Perisylvian, X-Linked

ClinVar genetic disease variations for Polymicrogyria, Bilateral Perisylvian, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBA1A NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) SNV Pathogenic 988578 GRCh37: 12:49578933-49578933
GRCh38: 12:49185150-49185150
2 TUBA1A NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) SNV Likely pathogenic 988580 GRCh37: 12:49578956-49578956
GRCh38: 12:49185173-49185173

Expression for Polymicrogyria, Bilateral Perisylvian, X-Linked

Search GEO for disease gene expression data for Polymicrogyria, Bilateral Perisylvian, X-Linked.

Pathways for Polymicrogyria, Bilateral Perisylvian, X-Linked

GO Terms for Polymicrogyria, Bilateral Perisylvian, X-Linked

Cellular components related to Polymicrogyria, Bilateral Perisylvian, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.62 TUBA1A ADGRG1

Biological processes related to Polymicrogyria, Bilateral Perisylvian, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 8.62 SRPX2 ADGRG1

Sources for Polymicrogyria, Bilateral Perisylvian, X-Linked

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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