MARCH
MCID: MLT161
MIFTS: 57

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly (MARCH)

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

Aliases & Classifications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

MalaCards integrated aliases for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

Name: Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 56 36
Hydranencephaly with Renal Aplasia-Dysplasia 56 73 29 6
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 12 73 15
March 56 12 73
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 58
March Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or within minutes after birth


HPO:

31
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

OMIM : 56 MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017). (236500)

MalaCards based summary : Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly, also known as hydranencephaly with renal aplasia-dysplasia, is related to dermatitis, atopic and allergic asthma. An important gene associated with Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly is CEP55 (Centrosomal Protein 55). The drugs Rabeprazole and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and heart, and related phenotypes are cystic hygroma and talipes equinovarus

Disease Ontology : 12 A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has material basis in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.

KEGG : 36 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst.

UniProtKB/Swiss-Prot : 73 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly: An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period.

Related Diseases for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 746)
# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 11.7
2 allergic asthma 11.7
3 proteasome-associated autoinflammatory syndrome 1 11.5
4 yusho disease 11.2
5 covid-19 10.6
6 severe acute respiratory syndrome 10.4
7 measles 10.4
8 rhinitis 10.4
9 hemoglobinuria 10.4
10 allergic rhinitis 10.4
11 dermatitis 10.4
12 gastroenteritis 10.3
13 food allergy 10.3
14 influenza 10.3
15 poliomyelitis 10.3
16 cholera 10.2
17 avian influenza 10.2
18 rubella 10.2
19 leprosy 3 10.1
20 kidney disease 10.1
21 lung disease 10.1
22 hansen's disease 10.1
23 ige responsiveness, atopic 10.1
24 atherosclerosis susceptibility 10.1
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
26 ebola hemorrhagic fever 10.1
27 meningitis 10.1
28 osteoporosis 10.1
29 bone mineral density quantitative trait locus 8 10.1
30 bone mineral density quantitative trait locus 15 10.1
31 diarrhea 10.1
32 encephalopathy 10.1
33 malaria 10.1
34 exanthem 10.1
35 inflammatory bowel disease 10.1
36 anxiety 10.0
37 asthma-related traits 4 10.0
38 pertussis 10.0
39 respiratory failure 10.0
40 disease of mental health 10.0
41 vascular disease 10.0
42 pustulosis of palm and sole 10.0
43 cataract 10.0
44 osteoarthritis 10.0
45 psoriasis 10.0
46 neisseria meningitidis infection 10.0
47 asthma 10.0
48 intraocular pressure quantitative trait locus 10.0
49 mumps 10.0
50 tetanus 10.0

Graphical network of the top 20 diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:



Diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly

Symptoms & Phenotypes for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Human phenotypes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cystic hygroma 31 HP:0000476
2 talipes equinovarus 31 HP:0001762
3 clinodactyly of the 5th finger 31 HP:0004209
4 renal hypoplasia 31 HP:0000089
5 microretrognathia 31 HP:0000308
6 arthrogryposis multiplex congenita 31 HP:0002804
7 cerebellar hypoplasia 31 HP:0001321
8 oligohydramnios 31 HP:0001562
9 single transverse palmar crease 31 HP:0000954
10 pulmonary hypoplasia 31 HP:0002089
11 renal agenesis 31 HP:0000104
12 renal cyst 31 HP:0000107
13 hydranencephaly 31 HP:0002324
14 renal dysplasia 31 HP:0000110
15 2-3 toe syndactyly 31 HP:0004691
16 redundant neck skin 31 HP:0005989
17 hypoplasia of the brainstem 31 HP:0002365
18 narrow nasal ridge 31 HP:0000418
19 potter facies 31 HP:0002009

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
cystic hygroma
redundant neck skin

Skeletal Feet:
toe syndactyly
club feet

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Genitourinary Kidneys:
renal dysplasia
renal cysts
hypoplastic kidneys
absent kidneys

Skeletal:
arthrogryposis

Genitourinary Ureters:
absence of the ureters

Head And Neck Face:
microretrognathia
potter facies

Neurologic Central Nervous System:
cerebellar hypoplasia
hydranencephaly
brainstem hypoplasia
absence of the cerebral cortex
multinucleated neurons

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
fifth finger clinodactyly
fifth finger hypoplasia
single palmar crease

Head And Neck Nose:
pinched nose
choanal narrowing

Genitourinary Bladder:
absence of the bladder

Clinical features from OMIM:

236500

GenomeRNAi Phenotypes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation GR00363-A 8.32 MARCHF1

Drugs & Therapeutics for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Drugs for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 897)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
2
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
3
Methyldopa Approved Phase 4 555-30-6 38853
4
Dronedarone Approved Phase 4 141625-93-6, 141626-36-0 154087
5
Reboxetine Approved, Experimental Phase 4 98769-81-4, 71620-89-8 123628 65856
6
Aminolevulinic acid Approved Phase 4 106-60-5 137
7
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
8
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
9
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
10
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
11
Fosamprenavir Approved Phase 4 226700-79-4 131536
12
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
13
Zidovudine Approved Phase 4 30516-87-1 35370
14
Histamine Approved, Investigational Phase 4 51-45-6 774
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
18
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
19
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
20
Racepinephrine Approved Phase 4 329-65-7 838
21
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
22
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
23
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
24
Clonidine Approved Phase 4 4205-90-7 2803
25
Tranexamic Acid Approved Phase 4 1197-18-8 5526
26
Lactulose Approved Phase 4 4618-18-2 11333
27
Norepinephrine Approved Phase 4 51-41-2 439260
28
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
29
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
30
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
31
Bevacizumab Approved, Investigational Phase 4 216974-75-3
32
Perphenazine Approved Phase 4 58-39-9 4748
33
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
34
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
35
Haloperidol Approved Phase 4 52-86-8 3559
36
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
37
Donepezil Approved Phase 4 120014-06-4 3152
38
Ranibizumab Approved Phase 4 347396-82-1 459903
39
Fosaprepitant Approved Phase 4 172673-20-0 219090
40
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 151165
41
Montelukast Approved Phase 4 158966-92-8 5281040
42
Insulin lispro Approved Phase 4 133107-64-9
43
Insulin glargine Approved Phase 4 160337-95-1
44
Misoprostol Approved Phase 4 59122-46-2 5282381
45
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
46
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
47
Allopurinol Approved Phase 4 315-30-0 2094
48
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
49
Fenofibrate Approved Phase 4 49562-28-9 3339
50
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411

Interventional clinical trials:

(show top 50) (show all 1738)
# Name Status NCT ID Phase Drugs
1 Tailored Therapy Versus Standard Triple Therapy for Helicobacter Pylori Eradication in Children: A Randomized Trial Unknown status NCT02635191 Phase 4 Tailored Group;Standard group
2 The Effect and Reliability of Escitalopram in the Treatment of Adolescents With Major Depressive Disorder or Anxiety Disorders Unknown status NCT03122158 Phase 4 Escitalopram
3 The Impact of Vitamin on the Clinical Course in Cases Infected by Novel H1N1 Influenza Virus A: a Randomized-controlled Trial Unknown status NCT01127282 Phase 4 Vitamin (vitamin A 15 mg,C 500 mg, E 400IU);Placebo (digestive tablet)
4 Effectiveness Of Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia: Randomized Placebo-Controlled Clinical Trial Unknown status NCT01361425 Phase 4 methildopa;placebo
5 Efficacy of Tegaderm-CHG® Dressing vs. Tegaderm-IV® Dressing in the Reduction of Central Catheter Colonization in Patients of the Intensive Care Unit of the University "Gómez Ulla" Hospital. Unknown status NCT01733940 Phase 4
6 Dronedarone in Pacemaker Patients With Paroxysmal Atrial Fibrillation Unknown status NCT01070667 Phase 4 Dronedarone;Placebo
7 The Effect of Intravenous Oxytocin Infusion Using Different Diluents on Neonatal Bilirubin & Sodium Levels .A Prospective Randomized Controlled Trial. Unknown status NCT02602301 Phase 4 Oxytocin
8 Phase 3 Reboxetine Treatment in Depressed Children and Adolescents an 8-Week, Open Study Unknown status NCT00426946 Phase 4 Reboxetine
9 Prospective, Randomized, Controlled, Multicenter, Two-armed, Study Comparing Daylight Photodynamic Therapy Using MAL With Cryosurgery for the Treatment and Prophylaxis of Actinic Keratoses in Photodamaged Skin of the Face Unknown status NCT02736760 Phase 4 Daylight photodynamic therapy using Methylaminolevulinate (MAL)
10 Rebamipide in Combination With Esomeprazole in the Management of Asian Patients With Functional Dyspepsia: a Multi-national, Randomised, Double-blind, Placebo-controlled Study Unknown status NCT02134405 Phase 4 Rebamipide;Placebo (for Esomeprazole);Esomeprazole
11 A Randomized Controlled Trial Comparing the Efficacy and Safety Profile of Oral Versus Subcutaneous Route of Methotrexate Administration in Moderate to Severe Psoriasis Unknown status NCT03408756 Phase 4 methotrexate
12 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
13 Maraviroc Switch Collaborative Study Renal Substudy Completed NCT01637259 Phase 4 arm 1 nucleotide analogue reverse transcriptase inhibitors and boosted protease inhibitors;Arm 2 boosted protease inhibitors and maraviroc;Arm 3 nucleotide analogue reverse transcriptase inhibitors and maraviroc
14 CSP #498 - Open Versus Endovascular Repair (OVER) Trial for Abdominal Aortic Aneurysms Completed NCT00094575 Phase 4
15 L-selenomethionine Supplementation in Children and Adolescents With Autoimmune Thyroiditis: a Randomized Blind Placebo-controlled Clinical Trial Completed NCT02644707 Phase 4
16 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
17 An Open Trial of Duloxetine on Comorbid Major Depression and Chronic Headache Completed NCT00531895 Phase 4 duloxetine
18 Seroprevalence of Antibodies to Measles, Mumps, and Rubella, and Serologic Responses After Vaccination Among Human Immunodeficiency Virus (HIV)-1 Infected Adults in Northern Thailand Completed NCT02724852 Phase 4
19 Denosumab Counteracts Metabolic Bone Disease in Chronic Intestinal Failure Patients: A Randomized, Controlled Clinical Trial Completed NCT02853539 Phase 4 Denosumab
20 TRANEXAMIC ACID IN PATIENTS UNDERGOING TOTAL HIP ARTHROPLASTY IN A BRAZILIAN REFERENCE ORTHOPEDIC CENTER: A RANDOMIZED CONTROLLED TRIAL Completed NCT03019198 Phase 4 Tranexamic Acid Injectable Solution;Placebo - Concentrate
21 Evaluating Performance, Impact, and Operational Challenges of GeneXpert Use for TB Case Finding Among HIV-infected Persons in Botswana During 2012-2013: The Xpert Package Rollout Evaluation Study (XPRES) Completed NCT02538952 Phase 4
22 Impact of Vitamin D Supplementation on Recurrent Respiratory Infections in Paediatric Completed NCT02617771 Phase 4 Vitamin D3
23 Contralateral Eye Comparison of Visual Outcomes and Patient Satisfaction After Routine Phacoemulsification and Implantation of ReSTOR and ReZoom IOLs Completed NCT00366587 Phase 4
24 Phase IV, Pilot, Randomized, Investigator-blinded, Study to Evaluate the Reactogenicity and Immunogenicity of Standard-dose Versus High-dose Inactivated Influenza Vaccine After Kidney, Heart and Lung Transplantation. Completed NCT01808456 Phase 4
25 Outcomes of the Use of Sodium Bicarbonate (8.4%) Solution as a Catheter Lock Solution as a Catheter Lock Solution to Prevent Hemodialysis Catheter Loss Due to Lumen Clot Formation Completed NCT03627884 Phase 4 Sodium Bicarbonate Catheter Lock Solution;Normal Saline Catheter Lock Solution
26 Effects of Scalp Block With Bupivacaine Versus Levobupivacaine on Haemodynamic Response to Head Pinning and Efficacy on Postoperative Analgesia Completed NCT02497040 Phase 4 Levobupivacaine;Bupivacaine;placebo
27 A follow-on, Multi-centre, Open-label, Clinical, Phase 4 Trial to Investigate the Persistence of Serotype-specific Antibodies at 40 Months of Age in Children Who Have Received Either the 7-valent or the 13-valent Pneumococcal Conjugate Vaccine at 2, 4 and 12 Months of Age and Assessing the Immunogenicity of a 13-valent Pneumococcal Conjugate Vaccine Booster Dose Given at 40 Months of Age Completed NCT01095471 Phase 4
28 A Fifteen-month, Prospective, Randomized, Active-controlled, Open-label, Flexible Dose Study of Paliperidone Palmitate Compared With Oral Antipsychotic Treatment in Delaying Time to Treatment Failure in Adults With Schizophrenia Who Have Been Incarcerated Completed NCT01157351 Phase 4 paliperidone;risperidone;haloperidole;perphenazine;aripiprazole;quetiapine;paliperidone palmitate;olanzapine
29 Omega-3 Fatty Acid-Based Parenteral Nutrition Improves Postoperative Recovery for Cirrhotic Patients With Liver Cancer Completed NCT02321202 Phase 4 Omega-3 Fatty Acid-Based Parenteral Nutrition;Structolipid
30 Comparison of Routine IM Influenza Immunization and Administration by Jet-injector (Med-Jet MIT H4™ & Disposable Cartridge) in Healthy Young Adults Completed NCT03150537 Phase 4
31 Randomised, Openlabel Study Evaluating Efficacy and Safety of Maraviroc as a Switch for Either NRTI or PI/r in HIV-1 Infected Individuals With Stable, Well‐Controlled Plasma HIV‐RNA While Taking Their First N(t)RTI + PI/r Regimen of cART Completed NCT01384682 Phase 4 Maraviroc
32 Pilot Study of the Action of the Substance P Antagonist Aprepitant on Aldosterone and Cortisol Secretion in Healthy Volunteers. Completed NCT00977223 Phase 4 aprepitant/placebo
33 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
34 Long-Term Cognitive Decline After Coronary Artery Bypass Grafting: is Off-Pump Surgery Beneficial? Completed NCT00189215 Phase 4
35 Management Of Anemia Under RadioChemotherapy (MARCH): An Open, Randomized Multicenter Study Of The Effect Of NeoRecormon On Treatment Outcome In Patients With Advanced Cervical Cancer Stage IIB -IVA Treated With Primary Simultaneous Radiochemotherapy (Radiotherapy Plus Cisplatin) Completed NCT00046969 Phase 4 cisplatin
36 Randomized Clinical Trial of Folate Therapy/Placebo for Reduction of Homocysteine Serum Levels in Uremic Patients and Influence on Cardiovascular Mortality Completed NCT00317005 Phase 4 folate treatment
37 Phase 4 Study of Effects of Montelukast Treatment on Allergic Inflammation in Children With and Without Food Allergy, Single Centered, Randomised, Double Blind, Placebo Controlled Parallel Group Cross-over Study Completed NCT01618929 Phase 4 Montelukast
38 Bedtime Insulin Glargine or Bedtime Neutral Protamine Lispro Combined With Sulfonylurea and Metformin in Type 2 Diabetes. A Randomized, Controlled Trial Completed NCT00641407 Phase 4 NPL insulin;Insulin glargine
39 Effect of Exenatide on 24h-UAER in Patients With Diabetic Nephropathy: a 24- Week Study Completed NCT02690883 Phase 4 Exenatide;Lispro
40 Collagen-thrombin Matrix Efficacy During Cardiac Surgery: a Prospective Randomized Controlled Trial Completed NCT04310150 Phase 4 Collastat
41 The Assessment of Patient Specific Instrumentation for Unicompartmental Knee Replacement Completed NCT02748096 Phase 4
42 The Effect of Human Urinary Kallikrein on Corticospinal Tract Injury in Acute Ischemia Stroke Patients Completed NCT04102956 Phase 4 Kallikrein
43 7% Hypertonic Saline for Acute Bronchiolitis: A Randomized Controlled Trial Completed NCT01871857 Phase 4 Hypertonic saline and epinephrine;Normal saline and epinephrine
44 Randomised, Prospective, Single-blind, Controlled Multicenter Study on the Safety of Two Epidural Catheters in Patients Undergoing Surgery Under Thoracic Epidural Anaesthesia Completed NCT00394459 Phase 4
45 A Prospective Randomized Comparison Trial on the Use of Mifepristone With Sublingual or Buccal Misoprostol for Medical Abortions of Less Than 9 Weeks Gestation Completed NCT01156688 Phase 4 Misoprostol;Misoprostol
46 Aspects of Exclusive Breast-Feeding in Guinea Bissau. Intervention Study to Clarify Recommendations for Breast-Feeding Policy in Developing Countries Completed NCT00131625 Phase 4
47 Comparative Efficacy of Single-dose Doxycycline Versus Standard 5- Day Amoxicillin Treatment for Patients With Non-malarial Fever: a Randomized Non-inferiority Trial in Senegal Completed NCT03765931 Phase 4 Doxycycline;Amoxicillin
48 A Simple Oral Nutrition Protocol Reduces Length of Stay in Patients With Regular Radical Cystectomy Completed NCT01777126 Phase 4
49 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
50 Phase 4 Study of Cognitive Therapy and Donepezil in Alzheimers Disease. Completed NCT00443014 Phase 4

Search NIH Clinical Center for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly

Genetic Tests for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Genetic tests related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

# Genetic test Affiliating Genes
1 Hydranencephaly with Renal Aplasia-Dysplasia 29 CEP55

Anatomical Context for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

MalaCards organs/tissues related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

40
Breast, Testes, Heart, Lung, Liver, Bone, Kidney

Publications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Articles related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 61 56 6
28264986 2017
2
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 6 56
28295209 2017
3
Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literature. 56
9359650 1997
4
Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect. 56
3130870 1987
5
Antenatal ultrasound diagnosis of an unusual case of hydranencephaly. 56
6438176 1984
6
Hydranencephaly; clinical diagnosis; presentation of 7 cases. 56
14780790 1950
7
Emissions and atmospheric concentrations of α-pinene at an urban site of India: Role of changes in meteorology. 61
32470730 2020
8
Does culture matter social distancing under the COVID-19 pandemic? 61
32550745 2020
9
Characteristics of registered studies for Coronavirus disease 2019 (COVID-19): A systematic review. 61
32483523 2020
10
Lung cancer survival in never-smokers and exposure to residential radon: Results of the LCRINS study. 61
32454144 2020
11
This time is indeed different: A study on global market reactions to public health crisis. 61
32550128 2020
12
Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea. 61
32237288 2020
13
Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea. 61
32311848 2020
14
Positive RT-PCR in urine from an asymptomatic patient with novel coronavirus 2019 infection: a case report. 61
32420777 2020
15
ARIMA modelling and forecasting of irregularly patterned COVID-19 outbreaks using Japanese and South Korean data. 61
32537480 2020
16
COVID-19 pandemic: Impacts on the air quality during the partial lockdown in São Paulo state, Brazil. 61
32380370 2020
17
Data on litterfall production and meteorology at an old-growth tropical dry forest in northwestern Mexico. 61
32490086 2020
18
COVID-19 in Neonates and Infants: Progression and Recovery. 61
32384398 2020
19
Modeling behavioral change and COVID-19 containment in Mexico: A trade-off between lockdown and compliance. 61
32387384 2020
20
Pediatric Extrapolation in Type 2 Diabetes: Future Implications of a Workshop. 61
32017043 2020
21
Opportunities to Improve Antibiotic Appropriateness in U.S. ICUs: A Multicenter Evaluation. 61
32317600 2020
22
Reassessment of early 131I inhalation doses by the Fukushima nuclear accident based on atmospheric 137Cs and 131I/137Cs observation data and multi-ensemble of atmospheric transport and deposition models. 61
32421570 2020
23
Failure to bictegravir and development of resistance mutations in an antiretroviral-experienced patient. 61
31982483 2020
24
[Coagulopathy in COVID-19: pathophysiology]. 61
32555563 2020
25
Coronaviruses and SARS-CoV-2: A Brief Overview. 61
32243297 2020
26
FDG PET/CT in a Patient With Mantle Cell Lymphoma and COVID-19: Typical Findings. 61
32453077 2020
27
COVID-19 in Singapore and Malaysia: Rising to the Challenges of Orthopaedic Practice in an Evolving Pandemic. 61
32313613 2020
28
Acute Stroke Care Is at Risk in the Era of COVID-19: Experience at a Comprehensive Stroke Center in Barcelona. 61
32438895 2020
29
Effects of sodium glucose co-transporter 2 inhibitors on genital infections in female patients with type 2 diabetes mellitus- Real world data analysis. 61
32354622 2020
30
Safety and effectiveness of baloxavir marboxil for the treatment of influenza in Japanese clinical practice: A postmarketing surveillance of more than 3000 patients. 61
32409018 2020
31
Behavior of Japanese women after being informed about the benefits and disadvantages of breast cancer screening: a questionnaire survey. 61
32140843 2020
32
Efficacy of total hip arthroplasty after operatively treated acetabular fracture. 61
32296966 2020
33
A novel prevention bundle to reduce incisional infections after radical cystectomy. 61
32409199 2020
34
COVID-19 spreading in Rio de Janeiro, Brazil: Do the policies of social isolation really work? 61
32501374 2020
35
Olfactory perception rehabilitation after total laryngectomy (OPRAT): proposal of a new protocol based on training of sensory perception skills. 61
32200433 2020
36
In response to "Botulism in pregnancy - a clinical approach to diagnosis and management" published on 25 March issue. 61
30453798 2020
37
Preparedness of European diagnostic microbiology labs for detection of SARS-CoV-2, March 2020. 61
32422569 2020
38
Surveillance and Testing for Middle East Respiratory Syndrome Coronavirus, Saudi Arabia, March 2016-March 2019. 61
32568049 2020
39
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Variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

ClinVar genetic disease variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP55 NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)SNV Pathogenic 437874 rs201430235 10:95287789-95287789 10:93528032-93528032
2 CEP55 NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)SNV Pathogenic 437875 rs141458677 10:95262942-95262942 10:93503185-93503185
3 CEP55 NM_018131.5(CEP55):c.514dup (p.Ile172fs)duplication Pathogenic 562113 rs1169095680 10:95266796-95266797 10:93507039-93507040
4 CEP55 NM_018131.5(CEP55):c.70G>A (p.Glu24Lys)SNV Uncertain significance 599446 rs149119564 10:95259878-95259878 10:93500121-93500121

Expression for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Search GEO for disease gene expression data for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly.

Pathways for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

GO Terms for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Cellular components related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.26 PTPRN2 MARCHF8 MARCHF11 MARCHF1
2 cytoplasmic vesicle membrane GO:0030659 8.8 MARCHF8 MARCHF11 MARCHF1

Biological processes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.35 MARCHF8 MARCHF4 MARCHF11 MARCHF1 DCAF8
2 antigen processing and presentation of peptide antigen via MHC class II GO:0002495 8.62 MARCHF8 MARCHF1

Molecular functions related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.46 MARCHF8 MARCHF4 MARCHF11 MARCHF1
2 ubiquitin-protein transferase activity GO:0004842 9.13 MARCHF8 MARCHF4 MARCHF1
3 MHC protein binding GO:0042287 8.62 MARCHF8 MARCHF1

Sources for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

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
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45 MGI
48 NCI
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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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