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MARCH
MCID: MLT161
MIFTS: 55

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

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

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

Name: Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 36
Hydranencephaly with Renal Aplasia-Dysplasia 57 72 29 6
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 12 72 15
March 57 12 72
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 58
March Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or within minutes after birth


HPO:

31
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly:
Onset and clinical course neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Sources

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

About this section
OMIM® : 57 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) (Updated 05-Apr-2021)

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 Cisplatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and liver, and related phenotypes are low-set ears and cystic hygroma

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 : 72 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.

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

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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 760)
# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 11.2
2 allergic asthma 11.1
3 proteasome-associated autoinflammatory syndrome 1 10.9
4 basedow's coma 10.9
5 yusho disease 10.9
6 severe acute respiratory syndrome 10.6
7 covid-19 10.5
8 measles 10.5
9 rhinitis 10.4
10 allergic rhinitis 10.4
11 dermatitis 10.4
12 hemoglobinuria 10.4
13 influenza 10.4
14 poliomyelitis 10.4
15 food allergy 10.3
16 gastroenteritis 10.3
17 allergic disease 10.3
18 disease by infectious agent 10.3
19 asthma 10.3
20 avian influenza 10.2
21 post-traumatic stress disorder 10.2
22 human immunodeficiency virus type 1 10.2
23 cholera 10.2
24 rubella 10.2
25 malaria 10.2
26 lung disease 10.2
27 diabetes mellitus 10.2
28 ige responsiveness, atopic 10.2
29 leprosy 3 10.2
30 diarrhea 10.2
31 hansen's disease 10.2
32 exanthem 10.2
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
34 intraocular pressure quantitative trait locus 10.1
35 respiratory failure 10.1
36 disease of mental health 10.1
37 ebola hemorrhagic fever 10.1
38 hepatitis 10.1
39 pneumonia 10.1
40 kidney disease 10.1
41 aging 10.1
42 asthma-related traits 4 10.1
43 urinary tract infection 10.1
44 pertussis 10.1
45 diphtheria 10.1
46 conjunctivitis 10.1
47 cataract 10.1
48 arthritis 10.1
49 neisseria meningitidis infection 10.1
50 osteoporosis 10.1

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

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 very rare (1%) HP:0000369
2 cystic hygroma 31 very rare (1%) HP:0000476
3 talipes equinovarus 31 very rare (1%) HP:0001762
4 brachydactyly 31 very rare (1%) HP:0001156
5 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
6 microretrognathia 31 very rare (1%) HP:0000308
7 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
8 cerebellar hypoplasia 31 very rare (1%) HP:0001321
9 oligohydramnios 31 very rare (1%) HP:0001562
10 single transverse palmar crease 31 very rare (1%) HP:0000954
11 pulmonary hypoplasia 31 very rare (1%) HP:0002089
12 hydranencephaly 31 very rare (1%) HP:0002324
13 renal dysplasia 31 very rare (1%) HP:0000110
14 redundant neck skin 31 very rare (1%) HP:0005989
15 cutaneous syndactyly 31 very rare (1%) HP:0012725
16 ureteral agenesis 31 very rare (1%) HP:0012300
17 short neck 31 HP:0000470
18 anteverted nares 31 HP:0000463
19 renal hypoplasia 31 HP:0000089
20 bulbous nose 31 HP:0000414
21 renal cyst 31 HP:0000107
22 2-3 toe syndactyly 31 HP:0004691
23 choanal stenosis 31 HP:0000452
24 narrow palpebral fissure 31 HP:0045025
25 hypoplasia of the brainstem 31 HP:0002365
26 narrow nasal ridge 31 HP:0000418
27 potter facies 31 HP:0002009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Sources

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

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

(show top 50) (show all 252)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
7 Epoetin alfa Phase 4 113427-24-0
8 Nutrients Phase 4
9 Trace Elements Phase 4
10 Micronutrients Phase 4
11 Vitamins Phase 4
12 Retinol palmitate Phase 4
13 retinol Phase 4
14 Calciferol Phase 4
15 Immunologic Factors Phase 4
16 Immunoglobulins Phase 4
17 Antibodies Phase 4
18 Antibodies, Monoclonal Phase 4
19
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
20
Ketotifen Approved Phase 3 34580-14-8, 34580-13-7 3827
21
Sodium citrate Approved, Investigational Phase 3 68-04-2
22
Citalopram Approved Phase 3 59729-33-8 2771
23
Clomipramine Approved, Investigational, Vet_approved Phase 3 303-49-1 2801
24
Fluvoxamine Approved, Investigational Phase 3 54739-18-3 5324346 3404
25
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
26
Sertraline Approved Phase 3 79617-96-2 68617
27
Norepinephrine Approved Phase 3 51-41-2 439260
28
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
29
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
30
Ethanol Approved Phase 3 64-17-5 702
31
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
32
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
33
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
34 Orange Approved Phase 3
35
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
37
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
38
Dexetimide Withdrawn Phase 3 21888-98-2
39 Neurotransmitter Agents Phase 3
40 Cyclosporins Phase 3
41 Ophthalmic Solutions Phase 3
42
Histamine Phosphate Phase 3 51-74-1 65513
43 Histamine H1 Antagonists Phase 3
44 Calcineurin Inhibitors Phase 3
45 Histamine Antagonists Phase 3
46 Cytochrome P-450 Enzyme Inhibitors Phase 3
47 Vasodilator Agents Phase 3
48 Citrate Phase 3
49 Phosphodiesterase Inhibitors Phase 3
50 Sildenafil Citrate Phase 3 171599-83-0

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 Estimation de la capacité Fonctionnelle à la Marche Par Questionnaire Clinique Chez Les Patients adressés Pour Bilan artériel Des Membres inférieurs Unknown status NCT01424020 Phase 4
2 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
3 Impact of Vitamin D Supplementation on Recurrent Respiratory Infections in Paediatric Completed NCT02617771 Phase 4 Vitamin D3
4 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
5 Effect of Dupilumab (Anti-IL4Rα) on the Host-Microbe Interface in Atopic Dermatitis, Dupilumab Study Terminated NCT03389893 Phase 4 Dupilumab;Placebo
6 IMLEMENTATION OF High Flow Nasal Cannulae Therapy FOR THE TREATMENT OF BRONCHIOLITIS IN A GENERAL PEDIATRIC WARD - A RETROSPECTIVE AND PROSPECTIVE CLINICAL TRIAL Unknown status NCT02366715 Phase 3
7 Multicenter, Randomised, Double Masked, Controlled Studies on the Efficacy of Cyclosporine Eye Drop Treatment in Preventing Vernal Keratoconjunctivitis (VKC) Relapses and in Treating the Acute Phase. Completed NCT00426023 Phase 3 Cyclosporine A 0,05% eye drop;ketotifen fumarate 0.025% eye drops
8 Etude préliminaire Sur l'efficacité Aigue du Sildenafil Sur le Temps de Marche Chez Les Patients Atteints d'AOMI de Stade II présentant Une Claudication artérielle Completed NCT02832570 Phase 3 Sildenafil 100mg single oral dose;Placebo, Oral intake single dose
9 Treatment of Pediatric OCD for SRI Partial Responders Completed NCT00074815 Phase 3 Serotonin reuptake inhibitors management
10 MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC Recruiting NCT03905330 Phase 3 Maralixibat
11 Insight Enhancement Program vs. Metacognitive Training for Psychosis in Patients With Schizophrenia: A Three-Armed Comparative Randomized Controlled Trial Recruiting NCT03955549 Phase 3 Treatment As Usual (TAU)
12 Interdisciplinary Study of Two Novel Anticonvulsants in Alcoholism Active, not recruiting NCT02901041 Phase 3 Zonisamide;Placebo (for Zonisamide)
13 Methotrexate Treatment of Arthritis Caused by Chikungunya Virus (MARCH): A Phase III Randomized Controlled Clinical Trial of the Efficacy of Methotrexate Monotherapy in the Treatment of Chronic Arthritis After Chikungunya Infection Not yet recruiting NCT04483466 Phase 3 Methotrexate;Placebo
14 EPIGENETIC EFFECTS ELICITED BY LACTOBACILLUS GG IN CHILDREN WITH COW'S MILK ALLERGY: A POSSIBLE EFFECT OF ATOPIC MARCH Unknown status NCT02062476 Phase 2
15 Marched Pair Study of the Standard Chemotherapy 4doxorubicin Plus Cyclophosphamide(AC) 60 + 4 Docetaxel Protocol Versus 4 PLD C35+4 Docetaxel in Neoadjuvant Chemotherapy of Breast Cancer Unknown status NCT02953184 Phase 2 Pegylated Liposomal Doxorubicin;Cyclophosphamide;Taxotere;Dexrazoxane (DZR);vitamin B;Doxorubicin
16 A Randomized Double Blind Placebo Controlled, Proof-of-concept, Crossover Clinical Trial of Vapourized Cannabis in Adults With Painful Osteoarthritis of the Knee Unknown status NCT02324777 Phase 2 Cannabis
17 A Randomized, Double-Blind, Phase 2 Study of Erlotinib (Tarceva®) in Combination With OSI-906 or Placebo in Chemonaive Patients With Advanced NSCLC With Activating Mutations of the Epidermal Growth Factor Receptor (EGFR) Gene Completed NCT01221077 Phase 2 OSI-906;Erlotinib;Placebo
18 A Randomized Phase 2 Pharmacokinetic Trial of Chemotherapy With or Without Panitumumab in Patients With Metastatic and/or Recurrent Squamous Cell Carcinoma of the Head and Neck (Amended Version 20-March-2009) Completed NCT00756444 Phase 2 Panitumumab;Cisplatin;5FU
19 Peut-on améliorer la Marche de l'amputé fémoral en Guidant la Correction prothétique Par l'Analyse Des Pressions Dans l'emboîture ? Completed NCT01848964 Phase 1, Phase 2
20 Rôle du Cervelet et de l'Aire Motrice supplémentaire Dans le contrôle Postural au Cours de la Marche Chez l'Homme Completed NCT02976298 Phase 1, Phase 2
21 Phase II Study of Oxytocin in Autism to Improve Reciprocal Social Behaviors Completed NCT01944046 Phase 2 Double blind phase Placebo Nasal Spray;double Blind Oxytocin Nasal Spray;Open Label intranasal oxytocin
22 Efficacy and Safety of Oglemilast in the Prevention of Exercise-Induced Bronchospasm Completed NCT00322283 Phase 2 Oglemilast;Placebo
23 Efficacy and Safety of Targeted Precision Therapy in Refractory Tumor With Druggable Molecular Event (Long March Pathway) Recruiting NCT03239015 Phase 2 Gefitinib;Erlotinib;Afatinib;Trastuzumab;Oxazolidine;Olaparib;Everolimus;Cabozantinib;Vemurafenib;Dabrafenib;Palbociclib
24 A Phase II Study of the PARP Inhibitor Olaparib (AZD2281) Alone and in Combination With AZD1775, AZD5363, or AZD6738 in Advanced Solid Tumors Active, not recruiting NCT02576444 Phase 2 AZD2281;AZD5363;AZD1775;AZD6738
25 Stopping Atopic Dermatitis and Allergy Study: Prevent the Allergic March by Enhancing the Skin Barrier Not yet recruiting NCT03742414 Phase 1, Phase 2
26 Evaluation Effectiveness and Safety of (cTACE or DEB-TACE + FOLFOX Regimen HAIC) Combined With Camrelizumab and Apatinib Mesylas in the Treatment of Advanced Hepatocellular Carcinoma Not yet recruiting NCT04479527 Phase 2 Camrelizumab
27 A Phase II Trial of Hu3S193 Consolidation Therapy for Patients With Relapsing Platinum-sensitive Ovarian, Primary Peritoneal and Fallopian Tubes Adenocarcinoma, Who Achieved a Second Complete Response Terminated NCT01137071 Phase 2
28 Multicentre Phase 2 Trial to Evaluate the Efficacy of Ruxolitinib in Steroid-refractory Acute Multicenter, Randomized Phase 2 Trial to Determine the Response Rate of Ruxolitinib and Best Available Treatment (BAT) Versus BAT in Steroid-refractory Acute Graft-versus-Host Disease (aGvHD) Terminated NCT02396628 Phase 2 Experimental intervention;Standard treatment
29 Phase 1 Dose Escalation Study of LY2090314 in Patients With Advanced or Metastatic Cancer in Combination With Pemetrexed and Carboplatin Completed NCT01287520 Phase 1 LY2090314;pemetrexed;Carboplatin
30 Micafungin Anti-Fungal Prophylaxis in Immunocompromised Pediatric Patients: A Pharmacokinetic Study Terminated NCT02057289 Phase 1 Micafungin
31 Evaluation of Physical and Cognitive Performance After Simulated Road March Combines Physical and Cognitive Load Using a Virtual Reality Environment Unknown status NCT02644213
32 Effect of Home-base Exercise Program With a Conical Positive Expiratory Pressure Device on Physical Performance and Health Related Quality of Life in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT02790047 The medication following the COPD GOLD guidelines (2015)
33 Medico-economic Evaluation of Strategies for the Lead Extraction of Implantable Defibrillator and Pacemakers: a Retrospective Observational Study Unknown status NCT03121183
34 Minimal Access Repair of Contralateral Hernias (MARCH Trial) Unknown status NCT00293995
35 the Relationship Between Spot Marching Exercise Test and Six Minute Walk Test in Patient With Chronic Obstructive Pulmonary Disease Unknown status NCT02719457
36 Etude de l'adhérence et Des Effets Des Ateliers "équilibre Siel Bleu" Sur la Marche, la Cognition, l'Autonomie et l'indépendance Des Sujets Atteints d'Une Maladie d'Alzheimer, et Sur le Fardeau de l'Aidant Principal Unknown status NCT01314638
37 Environmental Assessment of Secondhand Smoke Exposure in Private Settings and Outdoor Settings in Europe Unknown status NCT03150186
38 Effects of Combined Treatment by Botulinum Toxin A and Robot-Assisted Gait Training (Lokomat®) on Walking Ability in Patients With Chronic Stroke: a Prospective, Controlled, Randomized Study Unknown status NCT03659266
39 Theory Based SMS Reminders - Text's Impact on Patient Attendance Unknown status NCT02453633
40 Design Of WELL Being Monitoring Systems, Application in Autism Unknown status NCT02275455
41 Study 1: Dietary Non Enzymatic Antioxidant Capacity and the Risk of Myocardial Infarction - The Swedish National March Cohort; Study 2: Dietary Total Antioxidant Capacity and Risk of Osteoarthritis in the Swedish National March Cohort Completed NCT03350568
42 The Elderly 's Parkinsonian March : Risk Estimation Multiple Drops From an Evaluation Grid Covering the March, Executive Functions, Vision and Anxiety. Completed NCT02885493
43 The Frequency and Management of Breakthrough Bleeding During Extended Therapy With the Transvaginal Contraceptive Ring Completed NCT00475553
44 Studies of Psychiatric Predisposing Factors, Treatment-related Cardiovascular Effects, and Prognostic Factors Associated With Antimuscarinic Drug (Tolterodine) for Female Overactive Bladder Syndrome Completed NCT01503580 tolterodine, solifenacin
45 A Japanese Prospective, Randomized, Multi-center Trial Comparing the TAXUS Stent and the CYPHER Stent in Patients With Coronary Artery Disease Eligible for PCI. Completed NCT00708669
46 Evaluation of the Effect of Momchilovtsi Yogurt on Intestinal Health and Blood Lipid Adjustment in Human Subjects Completed NCT02116101
47 A Randomized Parallel Study for Simulated Internal Jugular Vein Cannulation Using Simple Needle Guide Device Completed NCT03252197
48 Case-control Study to Evaluate the Vaccine Effectiveness of Rotarixâ„¢ Against Rotavirus Severe Gastroenteritis (RV SGE) Among Hospitalized Children Born After 6 March 2006 and at Least 12 Weeks of Age, in Belem, Brazil Completed NCT01177657
49 Effects of Mental Practice on the March and the Risk of Falls in People With Parkinson's Disease Completed NCT02729454
50 The Natural History of Atopic Disease in Thai Children and Association With Atopic March Completed NCT02532920

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

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

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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
Sources

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

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

40
Breast, Lung, Liver, Heart, Kidney, Bone, Brain
Sources

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

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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. 6 57 61
28264986 2017
2
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 57 6
28295209 2017
3
Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literature. 57
9359650 1997
4
Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect. 57
3130870 1987
5
Antenatal ultrasound diagnosis of an unusual case of hydranencephaly. 57
6438176 1984
6
Hydranencephaly; clinical diagnosis; presentation of 7 cases. 57
14780790 1950
7
Disparities in case frequency and mortality of coronavirus disease 2019 (COVID-19) among various states in the United States. 61
33138653 2021
8
External validation of a clinical risk score to predict hospital admission and in-hospital mortality in COVID-19 patients. 61
32997542 2021
9
Remote clinical training practice in the neurology internship during the COVID-19 pandemic. 61
33685381 2021
10
Combined treatment with valproic acid and estrogen has neuroprotective effects in ovariectomized mice with Alzheimer's disease. 61
33642397 2021
11
Situational diagnosis of the popular use of medicinal plants in pediatrics. 61
33053124 2021
12
COVID-19, stock market and sectoral contagion in US: a time-frequency analysis. 61
33583992 2021
13
Effectiveness and safety of fluoroscopy-guided acupuncture for subacromial impingement syndrome: A randomized, patient-assessor blind, parallel clinical trial. 61
33665091 2021
14
Binge drinking before and after a COVID-19 campus closure among first-year college students. 61
33706071 2021
15
The Great Recession, behavioral health, and self-rated health: An examination of racial/ethnic differences in the US. 61
33652334 2021
16
The impact of the initial Covid-19 lockdown upon regular sports bettors in Britain: Findings from a cross-sectional online study. 61
33647707 2021
17
Cortical transcriptome analysis after spinal cord injury reveals the regenerative mechanism of central nervous system in CRMP2 knock-in mice. 61
33318403 2021
18
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome. 61
33536358 2021
19
Poverty and COVID-19 in Africa and Latin America. 61
33612919 2021
20
Investigating connections between COVID-19 pandemic, air pollution and community interventions for Pakistan employing geoinformation technologies. 61
33582510 2021
21
Geological and hydrometeorological hazards and related disasters amid COVID-19 pandemic in Greece: Post-disaster trends and factors affecting the COVID-19 evolution in affected areas. 61
33678991 2021
22
Personal exposure monitoring of PM2.5 among US diplomats in Kathmandu during the COVID-19 lockdown, March to June 2020. 61
33770893 2021
23
Physical, cognitive, and social status of patients with urea cycle disorders in Japan. 61
33614409 2021
24
Trends in cholesterol testing during the COVID-19 pandemic: COVID-19 and cholesterol testing. 61
33778798 2021
25
The effects of the COVID-19 lockdown and alcohol restriction on trauma-related emergency department cases in a South African regional hospital. 61
33520631 2021
26
COVID-19 national lockdown in morocco: Impacts on air quality and public health. 61
33263072 2021
27
Serum Uric Acid Levels, but Not rs7442295 Polymorphism of SCL2A9 Gene, Predict Mortality in Clinically Stable Coronary Artery Disease. 61
33540324 2021
28
Monopolar versus bipolar transurethral resection of lateral wall-located bladder cancer under obturator nerve block: a single center prospective randomized study. 61
33621007 2021
29
Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple-negative breast cancer: A single institute retrospective study. 61
33767865 2021
30
Temporal and spatial variation in water quality in the Three Gorges Reservoir from 1998 to 2018. 61
33434798 2021
31
Reliability and validity of Midwifery - Obstetrics Collaboration (MOC) scale: A tool to improve collaborative practice. 61
33618318 2021
32
Peripheral arterial occlusion due to COVID-19: CT angiography findings of nine patients. 61
33307372 2021
33
Predictors of mortality in 217 COVID-19 patients in Northwest Ohio, United States: A retrospective study. 61
33350488 2021
34
Thermal stratification responses of a monomictic reservoir under different seasons and operation schemes. 61
33450589 2021
35
Spectrum of neurologic & neuroimaging manifestation in COVID-19. 61
33681827 2021
36
Season, not lockdown, improved air quality during COVID-19 State of Emergency in Nigeria. 61
33736334 2021
37
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Role of Toll-like receptors in the pathogenesis of COVID-19. 61
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Variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP55 NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) SNV Pathogenic 917933 GRCh37: 10:95276819-95276819
GRCh38: 10:93517062-93517062
2 CEP55 NM_018131.5(CEP55):c.514dup (p.Ile172fs) Duplication Pathogenic 562113 rs1169095680 GRCh37: 10:95266796-95266797
GRCh38: 10:93507039-93507040
3 CEP55 NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) SNV Pathogenic 437875 rs141458677 GRCh37: 10:95262942-95262942
GRCh38: 10:93503185-93503185
4 CEP55 NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter) SNV Pathogenic 437874 rs201430235 GRCh37: 10:95287789-95287789
GRCh38: 10:93528032-93528032
5 CEP55 NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) SNV Likely pathogenic 982391 rs141458677 GRCh37: 10:95262942-95262942
GRCh38: 10:93503185-93503185
6 CEP55 NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg) SNV Uncertain significance 1027682 GRCh37: 10:95287792-95287792
GRCh38: 10:93528035-93528035
7 CEP55 NM_018131.5(CEP55):c.70G>A (p.Glu24Lys) SNV Uncertain significance 599446 rs149119564 GRCh37: 10:95259878-95259878
GRCh38: 10:93500121-93500121
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Expression for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

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

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

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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 late endosome membrane GO:0031902 8.96 MARCHF8 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 9.1 MARCHF8 MARCHF4 MARCHF11 MARCHF10 MARCHF1 DCAF8
2 antigen processing and presentation of peptide antigen via MHC class II GO:0002495 8.96 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 transferase activity GO:0016740 9.55 MARCHF8 MARCHF4 MARCHF11 MARCHF10 MARCHF1
2 zinc ion binding GO:0008270 9.02 MARCHF8 MARCHF4 MARCHF11 MARCHF10 MARCHF1
3 MHC protein binding GO:0042287 8.96 MARCHF8 MARCHF1
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Sources for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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