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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 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:

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 : 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 Methyldopa have been mentioned in the context of this disorder. Affiliated tissues include breast, heart and testes, and related phenotypes are renal cyst and hypoplasia of the brainstem

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.

Sources

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 731)
# 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 chronic wasting disease 11.4
5 yusho disease 11.2
6 measles 10.4
7 rhinitis 10.4
8 hemoglobinuria 10.4
9 allergic rhinitis 10.4
10 dermatitis 10.4
11 gastroenteritis 10.3
12 food allergy 10.3
13 influenza 10.3
14 poliomyelitis 10.3
15 cholera 10.2
16 avian influenza 10.2
17 rubella 10.2
18 lung disease 10.2
19 leprosy 3 10.2
20 kidney disease 10.2
21 hansen's disease 10.2
22 ige responsiveness, atopic 10.1
23 rare surgical neurologic disease 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 malaria 10.1
32 exanthem 10.1
33 diarrhea 10.1
34 encephalopathy 10.1
35 anxiety 10.0
36 asthma-related traits 4 10.0
37 intraocular pressure quantitative trait locus 10.0
38 pertussis 10.0
39 vascular disease 10.0
40 pustulosis of palm and sole 10.0
41 cataract 10.0
42 psoriasis 10.0
43 neisseria meningitidis infection 10.0
44 colorectal cancer 10.0
45 asthma 10.0
46 inflammatory bowel disease 10.0
47 mumps 10.0
48 respiratory failure 10.0
49 tetanus 10.0
50 disease of mental health 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
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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 19)
# Description HPO Frequency HPO Source Accession
1 renal cyst 31 HP:0000107
2 hypoplasia of the brainstem 31 HP:0002365
3 arthrogryposis multiplex congenita 31 HP:0002804
4 cystic hygroma 31 HP:0000476
5 talipes equinovarus 31 HP:0001762
6 cerebellar hypoplasia 31 HP:0001321
7 clinodactyly of the 5th finger 31 HP:0004209
8 2-3 toe syndactyly 31 HP:0004691
9 oligohydramnios 31 HP:0001562
10 renal hypoplasia 31 HP:0000089
11 microretrognathia 31 HP:0000308
12 pulmonary hypoplasia 31 HP:0002089
13 single transverse palmar crease 31 HP:0000954
14 renal agenesis 31 HP:0000104
15 hydranencephaly 31 HP:0002324
16 renal dysplasia 31 HP:0000110
17 redundant neck skin 31 HP:0005989
18 potter facies 31 HP:0002009
19 narrow nasal ridge 31 HP:0000418

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
cystic hygroma
redundant neck skin

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Skeletal Feet:
toe syndactyly
club feet

Genitourinary Kidneys:
renal dysplasia
renal cysts
hypoplastic kidneys
absent kidneys

Skeletal:
arthrogryposis

Genitourinary Ureters:
absence of the ureters

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

Head And Neck Face:
microretrognathia
potter facies

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 GR00363-A 9.17 CEP55 DCAF8 LIPH MARCHF1 MARCHF8 NUDT3
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 900)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
2
Methyldopa Approved Phase 4 555-30-6 38853
3
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
4
Reboxetine Approved, Experimental Phase 4 71620-89-8, 98769-81-4 123628 65856
5
Aminolevulinic acid Approved Phase 4 106-60-5 137
6
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
7
Zidovudine Approved Phase 4 30516-87-1 35370
8
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
9
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
10
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
11
Lopinavir Approved Phase 4 192725-17-0 92727
12
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
13
Fosamprenavir Approved Phase 4 226700-79-4 131536
14
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Histamine Approved, Investigational Phase 4 51-45-6 774
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
18
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
19
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
20
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
21
Racepinephrine Approved Phase 4 329-65-7 838
22
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
23
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
24
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
25
Norepinephrine Approved Phase 4 51-41-2 439260
26
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
27
Clonidine Approved Phase 4 4205-90-7 2803
28
Lactulose Approved Phase 4 4618-18-2 11333
29
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
30
Bevacizumab Approved, Investigational Phase 4 216974-75-3
31
Donepezil Approved Phase 4 120014-06-4 3152
32
Ranibizumab Approved Phase 4 347396-82-1 459903
33
Perphenazine Approved Phase 4 58-39-9 4748
34
Haloperidol Approved Phase 4 52-86-8 3559
35
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
36
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
37
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
38
Fosaprepitant Approved Phase 4 172673-20-0 219090
39
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
40
Montelukast Approved Phase 4 158966-92-8 5281040
41
Insulin glargine Approved Phase 4 160337-95-1
42
Insulin lispro Approved Phase 4 133107-64-9
43
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
44
Allopurinol Approved Phase 4 315-30-0 2094
45
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
46
Fenofibrate Approved Phase 4 49562-28-9 3339
47
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
48
Palivizumab Approved, Investigational Phase 4 188039-54-5
49
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
50
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205

Interventional clinical trials:

(show top 50) (show all 1391)
# Name Status NCT ID Phase Drugs
1 The Effect and Reliability of Escitalopram in the Treatment of Adolescents With Major Depressive Disorder or Anxiety Disorders Unknown status NCT03122158 Phase 4 Escitalopram
2 Tailored Therapy Versus Standard Triple Therapy for Helicobacter Pylori Eradication in Children: A Randomized Trial Unknown status NCT02635191 Phase 4 Tailored Group;Standard group
3 L-selenomethionine Supplementation in Children and Adolescents With Autoimmune Thyroiditis: a Randomized Blind Placebo-controlled Clinical Trial Unknown status NCT02644707 Phase 4
4 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)
5 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
6 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
7 Effect of Exenatide on 24h-UAER in Patients With Diabetic Nephropathy: a 24- Week Study Unknown status NCT02690883 Phase 4 Exenatide;Lispro
8 Dronedarone in Pacemaker Patients With Paroxysmal Atrial Fibrillation Unknown status NCT01070667 Phase 4 Dronedarone;Placebo
9 Phase 3 Reboxetine Treatment in Depressed Children and Adolescents an 8-Week, Open Study Unknown status NCT00426946 Phase 4 Reboxetine
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 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)
12 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
13 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
14 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
15 CSP #498 - Open Versus Endovascular Repair (OVER) Trial for Abdominal Aortic Aneurysms Completed NCT00094575 Phase 4
16 An Open Trial of Duloxetine on Comorbid Major Depression and Chronic Headache Completed NCT00531895 Phase 4 duloxetine
17 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
18 Denosumab Counteracts Metabolic Bone Disease in Chronic Intestinal Failure Patients: A Randomized, Controlled Clinical Trial Completed NCT02853539 Phase 4 Denosumab
19 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
20 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
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 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
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 Impact of Vitamin D Supplementation on Recurrent Respiratory Infections in Paediatric Completed NCT02617771 Phase 4 Vitamin D3
26 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
27 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
28 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
29 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
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 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
32 Long-Term Cognitive Decline After Coronary Artery Bypass Grafting: is Off-Pump Surgery Beneficial? Completed NCT00189215 Phase 4
33 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
34 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
35 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
36 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
37 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
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 The Assessment of Patient Specific Instrumentation for Unicompartmental Knee Replacement Completed NCT02748096 Phase 4
40 7% Hypertonic Saline for Acute Bronchiolitis: A Randomized Controlled Trial Completed NCT01871857 Phase 4 Hypertonic saline and epinephrine;Normal saline and epinephrine
41 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
42 The Effect of Human Urinary Kallikrein on Corticospinal Tract Injury in Acute Ischemia Stroke Patients Completed NCT04102956 Phase 4 Kallikrein
43 Aspects of Exclusive Breast-Feeding in Guinea Bissau. Intervention Study to Clarify Recommendations for Breast-Feeding Policy in Developing Countries Completed NCT00131625 Phase 4
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 A Simple Oral Nutrition Protocol Reduces Length of Stay in Patients With Regular Radical Cystectomy Completed NCT01777126 Phase 4
47 Phase 4 Study of Cognitive Therapy and Donepezil in Alzheimers Disease. Completed NCT00443014 Phase 4
48 Allopurinol as a Possible Oxygen Sparing Agent During Exercise in Peripheral Arterial Disease Completed NCT01147705 Phase 4 Allopurinol;Placebo
49 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
50 The Effects of Physical Training, Aspirin, and Clopidogrel on the Walking Capacity of Patients With Stage II Peripheral Arterial Disease Completed NCT00189618 Phase 4 Aspirin;Clopidogrel

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

Sources

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

About this section

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...

About this section

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

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

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

About this section

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. 56 6
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
Adenylate cyclase activator forskolin alleviates intracerebroventricular propionic acid-induced mitochondrial dysfunction of autistic rats. 61
31823895 2020
8
Seroprevalence and risk factors associated with T. gondii infection in pregnant individuals from a Brazilian Amazon municipality. 61
31993513 2020
9
Colectomy with ileostomy for severe ulcerative colitis-postoperative complications and risk factors. 61
31865435 2020
10
Comorbid Cupulolithiasis Is Rare in Patients With Horizontal Semicircular Canal Canalolithiasis. 61
31868781 2020
11
Highlights of the March issue. 61
32028512 2020
12
The Planning, Implementation, and Evaluation of California's Inaugural Food Waste Prevention Week. 61
30789587 2020
13
Monitoring of gamma radiation in aseismic region and its response to seismic events. 61
31783293 2020
14
Impact of dosing schedule on uptake of neuroprotective magnesium sulfate. 61
30122071 2020
15
Opioid prescribing practices in a pediatric burn tertiary care facility: Is it time to change? 61
31862279 2020
16
Subjects at risk of Parkinson's disease in health checkup examinees: cross-sectional analysis of baseline data of the NaT-PROBE study. 61
32030520 2020
17
Relationship between the status of phospholipase A2 receptor and prognosis of idiopathic membranous nephropathy. 61
31226230 2020
18
Can body mass index identify cardiac autonomic dysfunction in women who are apparently healthy? 61
31096889 2020
19
Reduced Plasma NT-proBNP Levels Months after Myocardial Infarction Postconditioned with Lactate-Enriched Blood. 61
32018268 2020
20
Thermal habitat of adult Atlantic salmon Salmo salar in a warming ocean. 61
31661157 2020
21
Seasonal occupancy and connectivity amongst nearshore flats and reef habitats by permit Trachinotus falcatus: considerations for fisheries management. 61
31823365 2020
22
[Anthropometric measures in the German National Cohort-more than weight and height]. 61
32020361 2020
23
Deep Interpretable Early Warning System for the Detection of Clinical Deterioration. 61
31545746 2020
24
Ixodid tick species and two tick-borne pathogens in three areas in the Sudan. 61
31901105 2020
25
Uterine exteriorization versus intraperitoneal repair in primary and repeat cesarean delivery: a randomized controlled trial. 61
32008386 2020
26
Discharge destination and patient-reported outcomes after inpatient treatment for isolated lower limb fractures. 61
32017129 2020
27
Kinetic volume analysis on dynamic contrast-enhanced MRI of triple-negative breast cancer: associations with survival outcomes. 61
31821036 2020
28
Course of upper eyelid retraction in thyroid eye disease. 61
31079052 2020
29
Determination of reference values for salivary cortisol in healthy infants aged 0-12 months. 61
31984691 2020
30
Profile of new referrals to a single pediatric rheumatology center in Turkey. 61
31440813 2020
31
Two novel adenoviruses found in Cave Myotis bats (Myotis velifer) in Oklahoma. 61
31797220 2020
32
Investigation of an outbreak of Burkholderia cepacia infection caused by drug contamination in a tertiary hospital in China. 61
31345617 2020
33
Printing a Three-Dimensional Patient-Specific Safety Device for Reducing the Potential Risk of Mental Nerve Injury During Transoral Thyroidectomy. 61
31531721 2020
34
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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 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
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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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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 8.92 MARCHF8 MARCHF10 MARCHF1 DCAF8
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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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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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