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 57 37
Hydranencephaly with Renal Aplasia-Dysplasia 57 74 29 6
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 12 74 15
March 57 12 74
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 59
March Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or within minutes after birth


HPO:

32
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080327
OMIM 57 236500
KEGG 37 H01937
Orphanet 59 ORPHA500135
MedGen 42 C1856053

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

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)

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 cystic hygroma and arthrogryposis multiplex congenita

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 : 37
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 : 74 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 737)
# 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 influenza 10.3
12 gastroenteritis 10.3
13 food allergy 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 10.1
20 kidney disease 10.1
21 hansen's disease 10.1
22 ige responsiveness, atopic 10.1
23 rare surgical neurologic disease 10.1
24 atherosclerosis susceptibility 10.1
25 pulmonary alveolar microlithiasis 10.1
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
27 immunodeficiency, common variable, 10 10.1
28 meningitis 10.1
29 osteoporosis 10.1
30 bone mineral density quantitative trait locus 8 10.1
31 bone mineral density quantitative trait locus 15 10.1
32 ebola hemorrhagic fever 10.1
33 malaria 10.1
34 exanthem 10.1
35 diarrhea 10.1
36 encephalopathy 10.1
37 anxiety 10.0
38 asthma-related traits 4 10.0
39 pertussis 10.0
40 vascular disease 10.0
41 pustulosis of palm and sole 10.0
42 cataract 10.0
43 psoriasis 10.0
44 neisseria meningitidis infection 10.0
45 asthma 10.0
46 intraocular pressure quantitative trait locus 10.0
47 mumps 10.0
48 respiratory failure 10.0
49 tetanus 10.0
50 mouth disease 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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cystic hygroma 32 HP:0000476
2 arthrogryposis multiplex congenita 32 HP:0002804
3 talipes equinovarus 32 HP:0001762
4 cerebellar hypoplasia 32 HP:0001321
5 clinodactyly of the 5th finger 32 HP:0004209
6 renal hypoplasia 32 HP:0000089
7 oligohydramnios 32 HP:0001562
8 microretrognathia 32 HP:0000308
9 pulmonary hypoplasia 32 HP:0002089
10 single transverse palmar crease 32 HP:0000954
11 renal agenesis 32 HP:0000104
12 renal cyst 32 HP:0000107
13 2-3 toe syndactyly 32 HP:0004691
14 hydranencephaly 32 HP:0002324
15 renal dysplasia 32 HP:0000110
16 redundant neck skin 32 HP:0005989
17 potter facies 32 HP:0002009
18 narrow nasal ridge 32 HP:0000418
19 hypoplasia of the brainstem 32 HP:0002365

Symptoms via clinical synopsis from OMIM:

57
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

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 911)
# 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 141625-93-6, 141626-36-0 154087
4
Reboxetine Approved, Experimental Phase 4 98769-81-4, 71620-89-8 123628 65856
5
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
6
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
7
Fosamprenavir Approved Phase 4 226700-79-4 131536
8
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
12
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
13
Zidovudine Approved Phase 4 30516-87-1 35370
14
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
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
Racepinephrine Approved Phase 4 329-65-7 838
19
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
20
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
21
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
22
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
23
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
24
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
25
Clonidine Approved Phase 4 4205-90-7 2803
26
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
27
Lactulose Approved Phase 4 4618-18-2 11333
28
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
29
Norepinephrine Approved Phase 4 51-41-2 439260
30
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
31
Bevacizumab Approved, Investigational Phase 4 216974-75-3
32
Donepezil Approved Phase 4 120014-06-4 3152
33
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
34
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
35
Haloperidol Approved Phase 4 52-86-8 3559
36
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
37
Ranibizumab Approved Phase 4 347396-82-1 459903
38
Insulin glargine Approved Phase 4 160337-95-1
39
Insulin Lispro Approved Phase 4 133107-64-9
40
Fosaprepitant Approved Phase 4 172673-20-0 219090
41
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
42
Montelukast Approved Phase 4 158966-92-8 5281040
43
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
44
Fenofibrate Approved Phase 4 49562-28-9 3339
45
Palivizumab Approved, Investigational Phase 4 188039-54-5
46
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
47
Allopurinol Approved Phase 4 315-30-0 2094
48
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
49
Povidone Approved Phase 4 9003-39-8
50
Acetylcholine Approved, Investigational Phase 4 51-84-3 187

Interventional clinical trials:

(show top 50) (show all 1324)
# 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 Sublingual Misoprostol 12,5 Mcg Versus Vaginal Misoprostol 25 Mcg for Induction of Labour of Alive and Term Fetus : Randomized Controlled Trial Unknown status NCT01406392 Phase 4 Misoprostol 25mcg;Sublingual Misoprostol
9 Dronedarone in Pacemaker Patients With Paroxysmal Atrial Fibrillation Unknown status NCT01070667 Phase 4 Dronedarone;Placebo
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 Phase 3 Reboxetine Treatment in Depressed Children and Adolescents an 8-Week, Open Study Unknown status NCT00426946 Phase 4 Reboxetine
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 Evaluation of the Effectiveness of Two Vaccination Strategies Using GlaxoSmithKline Biologicals' HPV Vaccine GSK580299 (Cervarix™) Administered in Healthy Adolescents Completed NCT00534638 Phase 4
16 CSP #498 - Open Versus Endovascular Repair (OVER) Trial for Abdominal Aortic Aneurysms Completed NCT00094575 Phase 4
17 Denosumab Counteracts Metabolic Bone Disease in Chronic Intestinal Failure Patients: A Randomized, Controlled Clinical Trial Completed NCT02853539 Phase 4 Denosumab
18 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
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 An Open Trial of Duloxetine on Comorbid Major Depression and Chronic Headache Completed NCT00531895 Phase 4 duloxetine
22 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
23 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
24 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
25 Contralateral Eye Comparison of Visual Outcomes and Patient Satisfaction After Routine Phacoemulsification and Implantation of ReSTOR and ReZoom IOLs Completed NCT00366587 Phase 4
26 Impact of Vitamin D Supplementation on Recurrent Respiratory Infections in Paediatric Completed NCT02617771 Phase 4 Vitamin D3
27 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
28 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
29 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
30 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
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 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
33 Long-Term Cognitive Decline After Coronary Artery Bypass Grafting: is Off-Pump Surgery Beneficial? Completed NCT00189215 Phase 4
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 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
36 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
37 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
38 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
39 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
40 The Assessment of Patient Specific Instrumentation for Unicompartmental Knee Replacement Completed NCT02748096 Phase 4
41 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
42 7% Hypertonic Saline for Acute Bronchiolitis: A Randomized Controlled Trial Completed NCT01871857 Phase 4 Hypertonic saline and epinephrine;Normal saline and epinephrine
43 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
44 Aspects of Exclusive Breast-Feeding in Guinea Bissau. Intervention Study to Clarify Recommendations for Breast-Feeding Policy in Developing Countries Completed NCT00131625 Phase 4
45 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
46 A Simple Oral Nutrition Protocol Reduces Length of Stay in Patients With Regular Radical Cystectomy Completed NCT01777126 Phase 4
47 Efficacy and Safety of Extended Release Niacin-Fenofibrate Combination and Monotherapy for the Treatment of Atherogenic Dyslipidemia in Obese Females Completed NCT03615534 Phase 4 Fenofibrate
48 Is There a Relation Between Unilateral Epidural Block and Repeated Epidural Anesthesia? Completed NCT03806673 Phase 4 marcaine
49 Tetracaine (Ametop®) Compared to Placebo for Reducing Pain Associated With Intramuscular Injection of Palivizumab (Synagis®) - A Pilot Study Completed NCT00484393 Phase 4 tetracaine 4% gel;Placebo
50 Allopurinol as a Possible Oxygen Sparing Agent During Exercise in Peripheral Arterial Disease Completed NCT01147705 Phase 4 Allopurinol;Placebo

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:

41
Breast, Heart, Testes, Liver, Lung, Kidney, Bone

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. 38 8 71
28264986 2017
2
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 8 71
28295209 2017
3
Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literature. 8
9359650 1997
4
Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect. 8
3130870 1987
5
Antenatal ultrasound diagnosis of an unusual case of hydranencephaly. 8
6438176 1984
6
Hydranencephaly; clinical diagnosis; presentation of 7 cases. 8
14780790 1950
7
A sandwich technique (N&H variation technique) to reduce blood loss during cesarean delivery for complete placenta previa: a randomized controlled trial. 38
29577789 2019
8
Observational study of aerosol hygroscopic growth on scattering coefficient in Beijing: A case study in March of 2018. 38
31174121 2019
9
Three new records of the genus Lutzomyia of the subgenus Helcocyrtomyia (Diptera: Psychodidae: Phlebotominae) from Southwestern Brazilian Amazonia. 38
30213616 2019
10
Light-induced sexually active rams prevent the seasonal inhibition of luteinizing-hormone in ovariectomized estradiol-implanted ewes. 38
31242457 2019
11
Advocating for Oral Health Through Fluoridation. 38
30845884 2019
12
Phosphorus, calcium, and magnesium contents of pasture and their effect on body condition scores and body mass of communal cattle depending on natural pasture of Mogosane Village, of the North-West Province, South Africa. 38
31165433 2019
13
Social gradient of birthweight in England assessed using the INTERGROWTH-21st gestational age-specific standard. 38
30464006 2019
14
Evaluating Prognostic Factors for Liver Transplantation Among United States Patients With Hereditary Transthyretin-Mediated (hATTR) Amyloidosis Using National Registry Data. 38
31167608 2019
15
Splenic flexure mobilization in rectal cancer surgery: do we always need it? 38
30406931 2019
16
The incidence, prevalence, nature, severity and mechanisms of injury in elite female cricketers: A prospective cohort study. 38
31182262 2019
17
The Association Between Modified Intracoronary Thrombus Grade and Cardiovascular Risk Factors and Initial Laboratory Findings in Patients Undergoing Primary Percutaneous Coronary Intervention. 38
31348073 2019
18
Wearing body armour and backpack loads increase the likelihood of expiratory flow limitation and respiratory muscle fatigue during marching. 38
31364962 2019
19
A Quality Improvement Initiative to Reduce Opioid Consumption after Cesarean Birth. 38
31274509 2019
20
Modified shave surgery combined with nail window technique for the treatment of longitudinal melanonychia: Evaluation of the method on a series of 67 cases. 38
30930088 2019
21
Evaluation of potentially inappropriate medication utilization in elderly patients with cancer at outpatient oncology unit. 38
30045684 2019
22
The Effects of Music on the Life Signs of Patients in the Reanimation Unit/Recovery Room After Laparoscopic Cholecystectomy. 38
31415009 2019
23
Meeting report: 32nd International Conference on Antiviral Research. 38
31302149 2019
24
Post-Traumatic Growth and Resilience Among Medical Students After the March 2011 Disaster in Fukushima, Japan. 38
31098921 2019
25
Residency Diary: Intern Year Part 2 (March-May)-Teams in Residency. 38
31389892 2019
26
Clinical impact of an antimicrobial stewardship program on high-risk pediatric patients. 38
31311616 2019
27
Interleukin 1 Receptor Antagonist Anakinra, Intravenous Immunoglobulin, and Corticosteroids in the Management of Critically Ill Adult Patients With Hemophagocytic Lymphohistiocytosis. 38
28631531 2019
28
Impact of a national enhanced recovery after surgery programme on patient outcomes of primary total knee replacement: an interrupted time series analysis from "The National Joint Registry of England, Wales, Northern Ireland and the Isle of Man". 38
31078777 2019
29
Prevalence and risk factors associated with human cystic echinococcosis in Iran. 38
31406403 2019
30
Women's expectations and experiences regarding e-health treatment: A systematic review. 38
28764600 2019
31
A Scoping Review of Validated Tools to Measure Incivility in Healthcare Settings. 38
31436744 2019
32
Spatiotemporal Analysis of Oklahoma Tobacco Helpline Registrations Using Geoimputation and Joinpoint Analysis. 38
30969280 2019
33
Time to Adapt Our Practice? The European Commission Has Restricted the Use of Fluoroquinolones since March 2019. 38
31239078 2019
34
Correlation of LAMA3 with onset and prognosis of ovarian cancer. 38
31402958 2019
35
Collaborative Approaches to Team-Based Primary Health Care for Individuals with Dementia in Rural/Remote Settings. 38
30846013 2019
36
Single-nucleotide polymorphisms (rs342275, rs342293, rs7694379, rs11789898, and rs17824620) showed significant association with lobaplatin-induced thrombocytopenia. 38
31279707 2019
37
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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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP55 NM_018131.5(CEP55): c.1274C> A (p.Ser425Ter) single nucleotide variant Pathogenic rs201430235 10:95287789-95287789 10:93528032-93528032
2 CEP55 NM_018131.5(CEP55): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs141458677 10:95262942-95262942 10:93503185-93503185
3 CEP55 NM_018131.5(CEP55): c.514dup (p.Ile172fs) duplication Pathogenic 10:95266799-95266799 10:93507042-93507042
4 CEP55 NM_018131.5(CEP55): c.70G> A (p.Glu24Lys) single nucleotide variant Uncertain significance 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...

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 response to calcium ion GO:0051592 8.62 DUSP1 ANXA5

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 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.96 DUSP12 DUSP1
2 promoter-specific chromatin binding GO:1990841 8.62 ISL1 EGR1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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