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
Data Licensing
For inquiries, contact:

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 38
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 58 28 5
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 11 73 14
March 57 11 73
Hydranencephaly with Renal Aplasia-Dysplasia 57 73
March Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome: Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death in utero or within minutes after birth


Classifications:

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


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) (Updated 08-Dec-2022)

MalaCards based summary: Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly, also known as multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, is related to amyotrophic neuralgia and dermatitis, atopic. An important gene associated with Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly is CEP55 (Centrosomal Protein 55). The drugs Cisplatin and Epoetin Alfa have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related phenotypes are low-set ears and cystic hygroma

Orphanet: 58 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 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 952)
# Related Disease Score Top Affiliating Genes
1 amyotrophic neuralgia 29.2 SEPTIN7 DCAF8
2 dermatitis, atopic 11.2
3 allergic asthma 11.1
4 thyroid hormone resistance, generalized, autosomal recessive 10.9
5 basedow's coma 10.9
6 yusho disease 10.9
7 covid-19 10.8
8 severe acute respiratory syndrome 10.7
9 down syndrome 10.7
10 rhinitis 10.5
11 chronic rhinitis 10.5
12 measles 10.5
13 allergic rhinitis 10.5
14 dermatitis 10.5
15 food allergy 10.4
16 hemoglobinuria 10.4
17 severe covid-19 10.4
18 parkinson disease, late-onset 10.4
19 poliomyelitis 10.4
20 influenza 10.4
21 respiratory failure 10.3
22 viral infectious disease 10.3
23 allergic disease 10.3
24 gastroenteritis 10.3
25 post-traumatic stress disorder 10.3
26 nutritional deficiency disease 10.3
27 hyperphenylalaninemia, bh4-deficient, a 10.3
28 asthma 10.3
29 avian influenza 10.3
30 human immunodeficiency virus type 1 10.3
31 lung disease 10.3
32 progressive non-infectious anterior vertebral fusion 10.2
33 cholera 10.2
34 anxiety 10.2
35 ige responsiveness, atopic 10.2
36 neurodegeneration with brain iron accumulation 2a 10.2
37 exanthem 10.2
38 adult respiratory distress syndrome 10.2
39 diarrhea 10.2
40 ebola hemorrhagic fever 10.2
41 rubella 10.2
42 asthma-related traits 4 10.2
43 acquired immunodeficiency syndrome 10.2
44 diabetes mellitus 10.2
45 pallister-hall-like syndrome 10.2
46 leprosy 3 10.2
47 klebsiella infection 10.2
48 zika fever 10.2
49 disease of mental health 10.2
50 pneumonia 10.2

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:

30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 30 Very rare (1%) HP:0000369
2 cystic hygroma 30 Very rare (1%) HP:0000476
3 talipes equinovarus 30 Very rare (1%) HP:0001762
4 brachydactyly 30 Very rare (1%) HP:0001156
5 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
6 microretrognathia 30 Very rare (1%) HP:0000308
7 arthrogryposis multiplex congenita 30 Very rare (1%) HP:0002804
8 cerebellar hypoplasia 30 Very rare (1%) HP:0001321
9 oligohydramnios 30 Very rare (1%) HP:0001562
10 single transverse palmar crease 30 Very rare (1%) HP:0000954
11 pulmonary hypoplasia 30 Very rare (1%) HP:0002089
12 hydranencephaly 30 Very rare (1%) HP:0002324
13 renal dysplasia 30 Very rare (1%) HP:0000110
14 redundant neck skin 30 Very rare (1%) HP:0005989
15 cutaneous syndactyly 30 Very rare (1%) HP:0012725
16 ureteral agenesis 30 Very rare (1%) HP:0012300
17 short neck 30 HP:0000470
18 anteverted nares 30 HP:0000463
19 renal hypoplasia 30 HP:0000089
20 bulbous nose 30 HP:0000414
21 renal cyst 30 HP:0000107
22 2-3 toe syndactyly 30 HP:0004691
23 choanal stenosis 30 HP:0000452
24 narrow palpebral fissure 30 HP:0045025
25 hypoplasia of the brainstem 30 HP:0002365
26 narrow nasal ridge 30 HP:0000418
27 potter facies 30 HP:0002009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 4 15663-27-1 2767 5702198 441203
2
Epoetin Alfa Phase 4
3
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
4
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
5 Orange Approved Phase 3
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
8 Liver Extracts Phase 3
9 Pharmaceutical Solutions Phase 3
10 Dermatologic Agents Phase 3
11 Folic Acid Antagonists Phase 3
12 Folate Phase 3
13 Antirheumatic Agents Phase 3
14 Vitamin B9 Phase 3
15 Vitamin B Complex Phase 3
16 Antimetabolites Phase 3
17 Immunosuppressive Agents Phase 3
18 Immunologic Factors Phase 3
19
Panitumumab Approved, Investigational Phase 2 339177-26-3
20
Fluorouracil Approved Phase 2 51-21-8 3385
21
Fluticasone Approved, Experimental Phase 2 90566-53-3 4659387 5311101
22
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643
23
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
24
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 3640 5754
25
Afatinib Approved Phase 2 439081-18-2, 850140-72-6 53445376 10184653
26
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
27
Erlotinib Approved, Investigational Phase 2 183319-69-9, 183321-74-6 176870
28
Vemurafenib Approved Phase 2 918504-65-1 42611257
29
Palbociclib Approved, Investigational Phase 2 571190-30-2 5330286
30
Trastuzumab Approved, Investigational Phase 2 180288-69-1
31
Olaparib Approved Phase 2 763113-22-0 23725625
32
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
33
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760
34
Capric acid Experimental Phase 2 59906-14-8, 334-48-5 2969
35 Bronchodilator Agents Phase 2
36 Anti-Asthmatic Agents Phase 2
37 Anti-Allergic Agents Phase 2
38 Xhance Phase 2
39 Respiratory System Agents Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Hydrocortisone 17-butyrate 21-propionate Phase 2
42 Tin Fluorides Phase 2
43 Antineoplastic Agents, Immunological Phase 2
44 Angiogenesis Inhibitors Phase 2
45 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
46 Protein Kinase Inhibitors Phase 2
47
Lopinavir Approved 192725-17-0 92727
48
Ritonavir Approved, Investigational 155213-67-5 392622
49
Lamivudine Approved, Investigational 134678-17-4 60825
50
Abacavir Approved, Investigational 136470-78-5, 188062-50-2 441300

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 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
2 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 Completed NCT03905330 Phase 3 Maralixibat
3 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
4 EPIGENETIC EFFECTS ELICITED BY LACTOBACILLUS GG IN CHILDREN WITH COW'S MILK ALLERGY: A POSSIBLE EFFECT OF ATOPIC MARCH Unknown status NCT02062476 Phase 2
5 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
6 SEAL (Stopping Eczema and ALlergy) Study: Prevent the Allergic March by Enhancing the Skin Barrier Recruiting NCT03742414 Phase 2
7 Efficacy and Safety of Precision Therapy in Refractory Tumor (Long March Pathway) Recruiting NCT03239015 Phase 2 Gefitinib;Erlotinib;Afatinib;Trastuzumab;Oxazolidine;Olaparib;Everolimus;Cabozantinib;Vemurafenib;Dabrafenib;Palbociclib;PD-1/L1 inhibitor plus anti-angiogenic agent
8 Evaluation of Physical and Cognitive Performance After Simulated Road March Combines Physical and Cognitive Load Using a Virtual Reality Environment Unknown status NCT02644213
9 Retrospective Observational Study on the Epidemiological Characteristics of Influenza Patients Who Consulted in the Emergency Services of the University Hospitals of Strasbourg From September 2018 to March 2019 Unknown status NCT04110990
10 Deconstructing the Atopic March - the Role of Filaggrin Mutations and Sensitization Pathways in Allergic Rhinitis and Peanut Allergy Unknown status NCT02745418
11 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
12 The Elderly 's Parkinsonian March : Risk Estimation Multiple Drops From an Evaluation Grid Covering the March, Executive Functions, Vision and Anxiety. Completed NCT02885493
13 A Randomized Parallel Study for Simulated Internal Jugular Vein Cannulation Using Simple Needle Guide Device Completed NCT03252197
14 Hospital-based, Case-control Study to Assess the Vaccine Effectiveness of Rotarix™ Against Rotavirus Severe Gastroenteritis (RV SGE) Among Hospitalised Children Born After 1 March 2006 and at Least 12 Weeks of Age, in Panama Completed NCT00653198
15 Effects of Mental Practice on the March and the Risk of Falls in People With Parkinson's Disease Completed NCT02729454
16 Assessment of the Consequences of the Abrupt Interruption of Physical and Rehabilitation Medicine Consultations During the Quarantine Period in France Between 2020 March 17th and May 11th Completed NCT04384406
17 Maraviroc Switch Central Nervous System (CNS) Substudy: a Substudy of MARCH, a Randomised, Open-label Study to Evaluate the Efficacy and Safety of Maraviroc (MVC) as a Switch for Either Nucleoside or Nucleotide Analogue Reverse Transcriptase Inhibitors (N(t)RTI) or Boosted Protease Inhibitors (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 Combination Antiretroviral Therapy (cART). Completed NCT01637233 Arm 1 TNucleotide Analogue Reverse Transcriptase Inhibitors and Boosted Protease Inhibitors;Arm 2 Maraviroc and Protease Inhibitors;Arm 3 Maraviroc and Nucleotide Analogue Reverse Transcriptase Inhibitors
18 The Natural History of Atopic Disease in Thai Children and Association With Atopic March Completed NCT02532920
19 Epigenetic Effects Involved in Children With Cow's Milk Allergy: A Possible Effect of Atopic March of Lactobacillus GG (EPICMA) Completed NCT02466035
20 Hip Fracture Epidemiology at Hospital Regional Rafael Hernandez. September 2014 to March 2015. Completed NCT03130673
21 Sociodemographic,Clinical,Quality of Life, and Health Care Conditions After Hospital Discharge in Patients Who Required Admission to ICU for COVID-19 at Hospital Universitario Nacional Between April 2020 and March 2021. Bogotá, Colombia Completed NCT05185674
22 Minimal Access Repair of Contralateral Hernias (MARCH Trial) Completed NCT00293995
23 "Review of Barotrauma in Admitted Covid-19 Cases - A Single Center Retrospective Study From March 2020 Till April 2021." Completed NCT05216523
24 Maraviroc Switch Vascular Endothelium (VE) Substudy: a Substudy of MARCH Completed NCT01585753 NRTI + PI;maraviroc + PI;maraviroc + NRTI
25 Case-control Study to Evaluate the Vaccine Effectiveness of Rotarix™ 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
26 Observational Prospective Cohort Study to Evaluate the Incidence of Adverse Events (AE), Risk Factors, and Drug Utilization Patterns Related to Treatment With BUSCAPINA COMPOSITUM N From March to December 2016 in Patients From Metropolitan Lima Completed NCT02910167 Hyoscine n-butylbromide;Paracetamol
27 The Incidence of AKI in Critically-ill COVID -19 Patients, A Single Centre Retrospective Study From March 2020 Till September 2021. Completed NCT05467956
28 Project MARCH: Multisite Advancement of Research on Chronic Posttraumatic Headache Not yet recruiting NCT05620719
29 An Integrated Transdiagnostic Protocol to Support Wellbeing in Adolescents Impacted by March 15 Attacks: an Open-label Pilot and Feasibility Trial Suspended NCT05030909

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 Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 28 CEP55

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

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

MalaCards : Brain, Skin, Liver, Breast, Lymph Node, Lung, Heart

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 30007)
# Title Authors PMID Year
1
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 62 57 5
28264986 2017
2
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 57 5
30622327 2019
3
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 57 5
28295209 2017
4
Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literature. 57
9359650 1997
5
Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect. 57
3130870 1987
6
Antenatal ultrasound diagnosis of an unusual case of hydranencephaly. 57
6438176 1984
7
Hydranencephaly; clinical diagnosis; presentation of 7 cases. 57
14780790 1950
8
Carcinoembryonic antigen levels in pancreatic juice are associated with histological subtypes of intraductal papillary mucinous neoplasm of the pancreas. 62
36247313 2023
9
An assessment of aerosol optical depth over three AERONET sites in South Africa during the year 2020. 62
36448048 2023
10
Implementation of a Patient-Tailored Opioid Prescribing Guideline in Ventral Hernia Surgery. 62
36270120 2023
11
Molecular identification and infection levels of Anisakis species (Nematoda: Anisakidae) in the red scorpionfish Scorpaena scrofa (Scorpaenidae) from the Aegean Sea. 62
36270599 2023
12
Nearly five-year continuous atmospheric measurements of black carbon over a suburban area in central France. 62
36343810 2023
13
Loss, adaptation and growth: The experiences of creative arts therapists during the Covid-19 pandemic. 62
36373024 2023
14
Corrigendum to 'Fabrication of a bio-instructive scaffold conferred with a favorable microenvironment allowing for superior implant osseointegration and accelerated in situ vascularized bone regeneration via type H vessel formation' [Bioactive Materials, Volume 9 (March 2022) Page 491-507]. 62
35663340 2023
15
Simultaneous evaluation of benzotriazoles, benzothiazoles and benzenesulfonamides in water samples from the impacted urban Jacarepaguá Lagoon System (Rio de Janeiro, Brazil) by liquid chromatography coupled to electrospray tandem mass spectrometry. 62
36356777 2023
16
Unraveling the dynamics of the Omicron and Delta variants of the 2019 coronavirus in the presence of vaccination, mask usage, and antiviral treatment. 62
36281307 2023
17
Extracorporeal membrane oxygenation in COVID-19 compared to other etiologies of acute respiratory failure: A single-center experience. 62
36274533 2023
18
Seasonal and diel modulation of DOM in a mangrove-dominated estuary. 62
36181816 2023
19
Using Geocoding to Identify COVID-19 Outbreaks in Congregate Residential Settings: San Francisco's Outbreak Response in Single-Room Occupancy Hotels. 62
36239486 2023
20
Impact of SARS-CoV-2 vaccination of children ages 5-11 years on COVID-19 disease burden and resilience to new variants in the United States, November 2021-March 2022: A multi-model study. 62
36437905 2023
21
The association between comorbidities and coronavirus disease 2019 hospitalization among people with HIV differs by age. 62
36111530 2023
22
Use of Telehealth Among Racial and Ethnic Minority Groups in the United States Before and During the COVID-19 Pandemic. 62
36113138 2023
23
Intraoperative Monitoring of the Recurrent Laryngeal Nerve with Electromyography Endotracheal Tube in Anterior Cervical Discectomy and Fusion. 62
36262180 2023
24
Farm resilience during the COVID-19 pandemic: The case of California direct market farmers. 62
36249876 2023
25
Adjusting for comorbidity in observational cancer studies: A systematic review to assess alignment between index and study. 62
36416345 2023
26
Incidental findings on staging CT for rectal cancer: Frequency, clinical significance and outcomes. 62
36356382 2023
27
Sport fishing and vessel pressure on the endangered cetacean Delphinus delphis. Towards an international agreement of micro-sanctuary for its conservation. 62
36419308 2023
28
Clinical characteristics and factors associated with ICU mortality during the first year of the SARS-Cov-2 pandemic in Romania: A prospective, cohort, multicentre study of 9000 patients. 62
36385096 2023
29
Impact of COVID-19 on HIV Testing Among AIDS Institute-Funded Providers in New York State-A Time Series Analysis. 62
36215975 2023
30
Evaluating the impact of the COVID-19 pandemic on tertiary gynaecological cancer care delivery: a population based study. 62
36469698 2022
31
Implementation of an enhanced recovery after surgery program including a patient school: Impact on quality of life results. 62
36244831 2022
32
Definitive Radiotherapy Using Electron Beam and Intensity-modulated Radiotherapy for Unresectable Angiosarcoma of the Scalp. 62
36456135 2022
33
Anxiety and loneliness among older people living in residential care facilities or receiving home care services in Sweden during the COVID-19 pandemic: a national cross-sectional study. 62
36456904 2022
34
Experience in managing action research on hepatitis C survey in the prison community. 62
36383852 2022
35
SARS-CoV-2 nasopharyngeal viral load in individuals infected with BA.2, compared to Alpha, Gamma, Delta and BA.1 variants: A single-center comparative analysis. 62
36183546 2022
36
Naoxintong Capsule for Secondary Prevention of Ischemic Stroke: A Multicenter, Randomized, and Placebo-Controlled Trial. 62
36251140 2022
37
Child maltreatment reporting during the initial weeks of COVID-19 in the US: Findings from NCANDS. 62
36270070 2022
38
Probable COVID-19 infection is associated with subsequent poorer mental health and greater loneliness in the UK COVID-19 Mental Health and Wellbeing study. 62
36460665 2022
39
Comparison of infections with respiratory syncytial virus between children and adults: a multicenter surveillance from 2015 to 2019 in Beijing, China. 62
36197575 2022
40
Development and validation of a model for surveillance of postoperative bleeding complications using structured electronic health records data. 62
36150923 2022
41
Pediatric emergency care admissions for somatic symptom disorders during the COVID-19 pandemic. 62
36459226 2022
42
Reducing unnecessary routine laboratory testing for noncritically ill patients with COVID-19. 62
36330542 2022
43
The impact of the SARS-COV-2 pandemic on the quality of breast cancer care in EUSOMA-certified breast centres. 62
36332437 2022
44
The impact of obesity on the outcome of severe SARS-CoV-2 ARDS in a high volume ECMO centre: ECMO and corticosteroids support the obesity paradox. 62
36219946 2022
45
Clinical significance of R-TEG in severe burn patients with coagulation dysfunction. 62
36210205 2022
46
The financial impact of COVID-19 on a surgical department: The effects of surgical shutdowns and the impact on a health system. 62
36123177 2022
47
Social media discussions about long-term care and the COVID-19 pandemic. 62
36462920 2022
48
Assessment of Contrast-Enhanced Ultrasound (CEUS) and Computed Tomography (CT) diagnostic accuracy in the evaluation of challenging cystic renal masses. 62
35460506 2022
49
Increased Risk Donors Utilized in Lung Transplantation At A Single Center. 62
36039527 2022
50
Assessing the effectiveness of quarantine measures during the COVID-19 pandemic in Chile using Bayesian structural time series models. 62
36124082 2022

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

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

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP55 NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter) SNV Pathogenic
437874 rs201430235 GRCh37: 10:95287789-95287789
GRCh38: 10:93528032-93528032
2 CEP55 NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) SNV Pathogenic
437875 rs141458677 GRCh37: 10:95262942-95262942
GRCh38: 10:93503185-93503185
3 CEP55 NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) SNV Pathogenic
917933 rs1297300713 GRCh37: 10:95276819-95276819
GRCh38: 10:93517062-93517062
4 CEP55 NM_018131.5(CEP55):c.514dup (p.Ile172fs) DUP Pathogenic
562113 rs1169095680 GRCh37: 10:95266796-95266797
GRCh38: 10:93507039-93507040
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.190C>T (p.Arg64Ter) SNV Likely Pathogenic
1065435 GRCh37: 10:95262876-95262876
GRCh38: 10:93503119-93503119
7 FOXP3 NM_014009.4(FOXP3):c.648-2A>G SNV Likely Pathogenic
1065438 GRCh37: X:49112265-49112265
GRCh38: X:49255804-49255804
8 CEP55 NM_018131.5(CEP55):c.1373A>G (p.His458Arg) SNV Uncertain Significance
1065436 GRCh37: 10:95287888-95287888
GRCh38: 10:93528131-93528131
9 CEP55 NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg) SNV Uncertain Significance
1027682 rs200014799 GRCh37: 10:95287792-95287792
GRCh38: 10:93528035-93528035
10 CEP55 NM_018131.5(CEP55):c.70G>A (p.Glu24Lys) SNV Uncertain Significance
599446 rs149119564 GRCh37: 10:95259878-95259878
GRCh38: 10:93500121-93500121
11 CEP55 NM_018131.5(CEP55):c.1191+89A>G SNV Benign
1209685 GRCh37: 10:95279653-95279653
GRCh38: 10:93519896-93519896
12 CEP55 NM_018131.5(CEP55):c.1133A>T (p.His378Leu) SNV Benign
1209684 GRCh37: 10:95279506-95279506
GRCh38: 10:93519749-93519749

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 Golgi stack GO:0005795 8.92 MARCHF9 MARCHF4

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 9.56 MARCHF9 MARCHF8 MARCHF4 MARCHF1 DCAF8
2 antigen processing and presentation of peptide antigen via MHC class II GO:0002495 8.92 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 MHC protein binding GO:0042287 8.92 MARCHF8 MARCHF1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....