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NBIA2A
MCID: NRD033
MIFTS: 62

Neurodegeneration with Brain Iron Accumulation 2a (NBIA2A)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 2a

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MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 2a:

Name: Neurodegeneration with Brain Iron Accumulation 2a 57 12 74 15
Infantile Neuroaxonal Dystrophy 53 25 54 59 74 29 6 72
Seitelberger Disease 57 12 53 25 54 59 74
Infantile Neuroaxonal Dystrophy 1 57 12 74 29 13
Plan 57 24 53 59 74
Inad 57 53 25 59 74
Pla2g6-Associated Neurodegeneration 24 59 29 6
Inad1 12 53 59 74
Neuroaxonal Dystrophy, Infantile 57 53 55
Nbia2a 57 12 74
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 53 25
Phospholipase A2-Associated Neurodegeneration 53 59
Neurodegeneration, Pla2g6-Associated 57 12
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 53
Neurodegeneration, with Brain Iron Accumulation, Type 2a 40
Neurodegeneration with Brain Iron Accumulation 2b 53
Neurodegeneration with Brain Iron Accumulation 2 72
Neuroaxonal Dystrophy, Infantile; Inad; Inad1 57
Neurodegeneration, Pla2g6-Associated; Plan 57
Neurodegeneration Pla2g6-Associated 74
Dystrophy, Neuroaxonal, Infantile 40
Neuroaxonal Dystrophy, Atypical 53
Pla2g6-Related Disorders 24
Karak Syndrome, Included 53
Neuroaxonal Dystrophies 72
Seitelberger's Disease 25
Nbia, Pla2g6-Related 25
Nbia2b 53
Nbia2 24

Characteristics:

Orphanet epidemiological data:

59
infantile neuroaxonal dystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
death usually by age 10 years
allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, )
phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, )


HPO:

32
neurodegeneration with brain iron accumulation 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110735
MeSH 44 D019150
ICD10 33 G23.0
ICD10 via Orphanet 34 G23.0
UMLS via Orphanet 73 C0270724
UMLS 72 C0270724 C0338473 C1857747
Sources

Summaries for Neurodegeneration with Brain Iron Accumulation 2a

About this section
Genetics Home Reference : 25 Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. They generally have muscles that are at first weak and "floppy" (hypotonic), and then gradually become very stiff (spastic). Eventually, affected children lose the ability to move independently. Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children. Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings. Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 2a, also known as infantile neuroaxonal dystrophy, is related to hereditary spastic paraplegia and neurodegeneration with brain iron accumulation 2b, and has symptoms including seizures, ataxia and gait ataxia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2a is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways is Metabolism. The drugs Pravastatin and mometasone furoate have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and lung, and related phenotypes are nystagmus and muscular hypotonia

Disease Ontology : 12

NIH Rare Diseases : 53 Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern.

OMIM : 57 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009). (256600)

NINDS : 54 Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes.  Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech.  Some children may have seizures.  Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.  INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.

UniProtKB/Swiss-Prot : 74 Neurodegeneration with brain iron accumulation 2A: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.

GeneReviews: NBK1675
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Related Diseases for Neurodegeneration with Brain Iron Accumulation 2a

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Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 7
Neurodegeneration with Brain Iron Accumulation 8

Diseases related to Neurodegeneration with Brain Iron Accumulation 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1734)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 29.2 PLA2G6 FA2H C19orf12
2 neurodegeneration with brain iron accumulation 2b 29.1 PLA2G6 PANK2 FA2H
3 3-methylglutaconic aciduria, type iii 28.1 FA2H C19orf12
4 dystonia 27.8 PLA2G6 PANK2 FA2H C19orf12
5 aceruloplasminemia 27.7 PLA2G6 PANK2 FA2H
6 neurodegeneration with brain iron accumulation 27.7 PLA2G6 PANK2 FA2H C19orf12
7 neuroaxonal dystrophy 27.7 PLA2G6 PANK2 NAGA FA2H
8 neurodegeneration with brain iron accumulation 1 27.2 PLA2G6 PANK2 FA2H C19orf12
9 osteopetrosis and infantile neuroaxonal dystrophy 12.6
10 systemic lupus erythematosus 11.6
11 chronic fatigue syndrome 11.5
12 spastic paraplegia 35, autosomal recessive 11.4
13 dementia 11.4
14 kidney disease 11.4
15 diabetes mellitus 11.4
16 apraxia 11.4
17 hypoglycemia 11.3
18 major depressive disorder 11.3
19 developmental coordination disorder 11.3
20 developmental dyspraxia 11.3
21 hypertension, essential 11.3
22 typhoid fever 11.3
23 endogenous depression 11.3
24 fibromyalgia 11.3
25 machado-joseph disease 11.3
26 fetal alcohol syndrome 11.3
27 spinocerebellar ataxia 2 11.3
28 supranuclear palsy, progressive, 1 11.3
29 beta-thalassemia 11.3
30 obsessive-compulsive personality disorder 11.3
31 cluttering 11.3
32 dementia, lewy body 11.0
33 dystonia 11, myoclonic 11.0
34 pancreas, annular 11.0
35 leukoencephalopathy, hereditary diffuse, with spheroids 11.0
36 hyperoxaluria, primary, type i 11.0
37 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 11.0
38 smith-lemli-opitz syndrome 11.0
39 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.0
40 aplastic anemia 11.0
41 pitt-hopkins syndrome 11.0
42 spinocerebellar ataxia 36 11.0
43 fragile x-associated tremor/ataxia syndrome 11.0
44 rhizomelic chondrodysplasia punctata 11.0
45 epidermolysis bullosa simplex 11.0
46 foxp2-related speech and language disorders 11.0
47 tango2-related metabolic encephalopathy and arrhythmias 11.0
48 acquired pure red cell aplasia 11.0
49 childhood apraxia of speech 11.0
50 salivary gland cancer, adult 11.0

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 2a:



Diseases related to Neurodegeneration with Brain Iron Accumulation 2a
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Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 2a

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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 2a:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
6 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 areflexia 32 very rare (1%) HP:0001284
9 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
10 frontal bossing 32 HP:0002007
11 abnormality of eye movement 59 Very frequent (99-80%)
12 intellectual disability 32 HP:0001249
13 ataxia 32 HP:0001251
14 hyperreflexia 32 HP:0001347
15 abnormal pyramidal sign 32 HP:0007256
16 hearing impairment 32 HP:0000365
17 global developmental delay 32 HP:0001263
18 short nose 32 HP:0003196
19 abnormality of visual evoked potentials 32 HP:0000649
20 spastic tetraplegia 32 HP:0002510
21 prominent forehead 32 HP:0011220
22 abnormality of metabolism/homeostasis 32 HP:0001939
23 generalized muscle weakness 32 HP:0003324
24 micrognathia 32 HP:0000347
25 generalized hypotonia 32 HP:0001290
26 strabismus 32 HP:0000486
27 visual loss 32 HP:0000572
28 neurodegeneration 32 HP:0002180
29 cerebellar atrophy 32 HP:0001272
30 cerebral atrophy 32 HP:0002059
31 neuronal loss in central nervous system 32 HP:0002529
32 gliosis 32 HP:0002171
33 unsteady gait 32 HP:0002317
34 emg: chronic denervation signs 32 HP:0003444
35 morphological abnormality of the pyramidal tract 32 HP:0002062

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spastic tetraplegia
cerebellar atrophy
cerebral atrophy
more
Laboratory Abnormalities:
characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

Neurologic Peripheral Nervous System:
chronic denervation seen on emg
axonal dystrophy
axonal swelling or thickening
axonal 'spheroid' inclusions
decreased nerve conduction velocities (ncv) (30%)

Clinical features from OMIM:

256600

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 2a:


seizures, ataxia, gait ataxia, dysdiadochokinesis, action tremor, bradykinesia, muscle spasticity, cerebellar ataxia, weakness, abnormal pyramidal signs
Sources

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 2a

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Drugs for Neurodegeneration with Brain Iron Accumulation 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1583)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 4 81093-37-0 54687
2
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
3
Arsenic trioxide Approved, Investigational Phase 4 1327-53-3 518740
4
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
5
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
6
Interferon beta-1b Approved Phase 4 145155-23-3
7
Succinylcholine Approved Phase 4 306-40-1 5314
8
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
9
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
10
Ethambutol Approved Phase 4 74-55-5 3279 14052
11
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
12
Metronidazole Approved Phase 4 443-48-1 4173
13
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Simvastatin Approved Phase 4 79902-63-9 54454
16
Zidovudine Approved Phase 4 30516-87-1 35370
17
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
18
Metformin Approved Phase 4 657-24-9 4091 14219
19
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
20
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
21
Buserelin Approved, Investigational Phase 4 57982-77-1
22
Atenolol Approved Phase 4 29122-68-7 2249
23
Fosaprepitant Approved Phase 4 172673-20-0 219090
24
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
25
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
26
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
27
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
28
Timolol Approved Phase 4 26839-75-8 33624 5478
29
Lopinavir Approved Phase 4 192725-17-0 92727
30
Topiramate Approved Phase 4 97240-79-4 5284627
31
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
32
Insulin glargine Approved Phase 4 160337-95-1
33
Cetirizine Approved Phase 4 83881-51-0 2678
34
Levocetirizine Approved Phase 4 130018-77-8 1549000
35
Natalizumab Approved, Investigational Phase 4 189261-10-7
36
Lithium carbonate Approved Phase 4 554-13-2
37
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
38
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
39
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
40
Travoprost Approved Phase 4 157283-68-6 5282226
41
Ipratropium Approved, Experimental Phase 4 60205-81-4, 22254-24-6 657309 43232
42
Phentermine Approved, Illicit Phase 4 122-09-8 4771
43
Cycloserine Approved Phase 4 68-41-7 6234 401
44
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
45
Nitric Oxide Approved Phase 4 10102-43-9 145068
46
Dutasteride Approved, Investigational Phase 4 164656-23-9 152945 6918296
47
Terazosin Approved Phase 4 63590-64-7 5401
48
Sulpiride Approved, Investigational Phase 4 15676-16-1 5355
49
Ticagrelor Approved Phase 4 274693-27-5 9871419
50
Baclofen Approved Phase 4 1134-47-0 2284

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Shenyankangfu Tablets for Chronic Kidney Disease Unknown status NCT02885857 Phase 4 Shenyan Kangfu Tablet
2 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
3 Comparative Clinical Trial of Erlotinib and Pemetrexed for Maintenance Treatment in Lung Adenocarcinoma Unknown status NCT02399566 Phase 4 Erlotinib, Pemetrexed
4 Study of Optimal Treatment Plan in Hypertensives With Anti-AT1-Receptor Autoantibody Unknown status NCT00360763 Phase 4 candesartan cilexetil
5 Desensitization With Bortezomib Before a Living Kidney Donation Unknown status NCT01842074 Phase 4 Bortezomib
6 Comparison Between Natural and Artificial Cycle in Recipient Oocyte Patients Unknown status NCT01353846 Phase 4 Agonist GnRH; estradiol Valerate; progesterone
7 Effect of Suppressive Therapy on Behavioral Determinants of HSV-2 Transmission Unknown status NCT00495716 Phase 4 acyclovir;acyclovir
8 Reduction of Symptomatic Ventricular Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
9 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
10 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
11 A Strategy of Home Telehealth for Management of Congestive Heart Failure: STARTEL Unknown status NCT00247000 Phase 4
12 Cooperative Investigation Plan for Home Treatment of Pulmonary Embolism Unknown status NCT00214929 Phase 4
13 Posttraumatic Stress Disorder and Affective Functioning: A Test of the Potentially Normalizing Effects of Oxytocin Unknown status NCT02546570 Phase 4 Oxytocin;Placebo
14 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
15 Different Reintroduction Regimens of Antituberculosis Drugs After Development of Hepatitis During Anti-tuberculosis Treatment Unknown status NCT01395654 Phase 4 isoniazid, rifampin, pyrazinamide
16 Sichuan Provincial People's Hospital Unknown status NCT03108521 Phase 4 Sitagliptin;Liraglutide
17 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
18 The Beneficial Role of Percutaneous Coronary Intervention Over Optimal Medical Therapy in Elderly Patients (Age > 75 Years Old) With Coronary Artery Disease: a Randomized Controlled Study Unknown status NCT01508663 Phase 4 ARB, CCB, ACE-inhibitor, statin, Nitrate, Antiplate etc.
19 A Open Multi-center Clinical Study on Piperacillin Sodium and Sulbactam Sodium for Injection (2:1) for Treatment of Respiratory and Urinary Tract Infection Unknown status NCT01897831 Phase 4 xin te mie
20 Phase 4 Study of Oral Calcitriol for Reduction of Mild Proteinuria in Patients With CKD Unknown status NCT01820832 Phase 4 Calcitriol
21 Treatment With Gamunex 10% Intravenous Immunoglobulin (IVIg) for Patients With Demyelination and Diabetes Mellitus: A Blinded, Placebo-Controlled Crossover Pilot Study Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
22 Study of Immune Responses After Vaccination Against Seasonal Influenza Virus and Against Influenza H1N1-v Pandemic Virus in a Clinical Staff (FLU-HOP) Unknown status NCT01063608 Phase 4
23 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in Patients With HIV. Influence on Morphological and Metabolic Disorders. A Randomized, Open-Label Multicenter Trial. Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
24 SWITCH 600/60: The Effect of Reloading Prasugrel in a Patient Who Has Already Received a Loading Dose (LD) of Clopidogrel Unknown status NCT01365221 Phase 4 Prasugrel;Prasugrel
25 Comprehensive Pathophysiological Study Based on the Core Neurocognitive Deficits and Development of Biological Markers of Treatment Response in Attention Deficit Hyperactivity Disorder Unknown status NCT02623114 Phase 4 methylphenidate;atomoxetine
26 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
27 A Randomised, Double Blind, Parallel-Group Study of the Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin. Unknown status NCT00404599 Phase 4 atrorvastatin 10mg;simvastatin 40mg
28 A Randomised Trial Investigating the Cardiovascular Effects of Agomelatine and Escitalopram in Patients With Major Depressive Disorder. Unknown status NCT01483053 Phase 4 Agomelatine;Escitalopram
29 The Safety and Immunogenicity Study of Rotavirus Vaccine Simultaneously Vaccinated With MR or MMR Vaccine Unknown status NCT02153866 Phase 4
30 Study the Possible Effects of Intraoperative Intravenous Magnesium Sulphate Infusion on the Incidence of Sevoflurane Induced Emergence Agitation in Children Undergoing Adenotonsillectomy Unknown status NCT01743144 Phase 4 Magnesium Sulfate;normal saline
31 Mifepristone Induction for Fetal Demise, a Randomized Control Trial Unknown status NCT02620904 Phase 4 Mifepristone;placebo
32 A Clinical Evaluation on Traditional Chinese Medicine Diagnosis and Treatment Program Blocking and Reversing Hepatitis B-related Liver Fibrosis - a Randomized, Controlled, Double-blind, Multi-center Clinical Trial Unknown status NCT01965418 Phase 4 Fufang Biejia Ruangan Tablet;Placebo
33 Dental Caries Management by Risk Assessment: Identification and Treatment of Risk Factors Among Israeli Defence Force (IDF) Personnel Unknown status NCT01142440 Phase 4
34 Use of Misoprostol by Families and Women as a First Aid Measure to Address Excessive Postpartum Bleeding in Home Deliveries Unknown status NCT02853552 Phase 4 Misoprostol
35 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
36 Comparisons of Urodynamic Effects, Urinary Nerve Growth Factor Levels and Outcomes in Female Overactive Bladder Patients After 3-month Versus 6-month Solifenacin Treatment: a Randomized Prospective Study Unknown status NCT01876186 Phase 4 Solifenacin for 12 weeks;Solifenacin for 24 weeks
37 Pharmacokinetic and Pharmacodynamic Evaluation of Linezolid Administered Intravenously in MRSA-positive, Morbidly Obese Patients With Pneumonia Unknown status NCT01805284 Phase 4 Linezolid
38 The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients Unknown status NCT00247507 Phase 4 acetylcysteine
39 Improving Cone-beam Computed Tomography for Image Guided Stereotactic Body Radiation Therapy of the Liver Using Gadoxetate Disodium Unknown status NCT03215355 Phase 4 Primovist
40 Impacts of Sequential Treatment Using Fixed Dose Pioglitazone/Metformin Combination Following Short-term Intensive Insulin Treatment on Long-term Blood Glucose Control and β-Cell Function in Patients With Newly Diagnosed Type 2 Diabetes Unknown status NCT03196362 Phase 4 Pioglitazone + Metformin;Placebo Oral Tablet
41 The Study of Standardized Preoperative Anti-tuberculosis Treatment of Surgical Treatment of Spinal Tuberculosis Patients Unknown status NCT02477852 Phase 4 Isoniazid;Rifampicin;Ethambutol;Pyrazinamide
42 Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer Unknown status NCT02757365 Phase 4 aspirin;Levofloxacin
43 A Single Centre Randomised Study Comparing Standard of Care Schedules of Dexamethasone in Patients Incorrectly Taking Dexamethasone Premedication Prior to Docetaxel Chemotherapy (REaCT-dexamethasone) Unknown status NCT02815319 Phase 4 Dexamethasone
44 Effects of High-dose Statin Treatments on Patients With Aspirin Mono Antiplatelet Therapy 12-months After Drug-eluting Stents Implantation: a Randomized Controlled Study Unknown status NCT01557075 Phase 4 Atorvastatin (High dose statin treatment);Pravastatin (High dose statin treatment)
45 Endostar Treatment of Advanced Non-small Cell Lung Cancer Multi-center Clinical Research Unknown status NCT02513355 Phase 4 Changchun marina;cisplatin;Taxol;parapl
46 The Study of Rosuvastatin for Reduction of Postoperative Paroxysmal Atrial Fibrillation in Patient Undergoing Radiofrequency Catheter Ablation Unknown status NCT02502110 Phase 4 rosuvastatin
47 Comparison of Daily Mometasone Furoate Nasal Spray Alone Versus a Combination With Montelukast for Treatment of Chronic Rhinosinusitis With Asthma After Functional Endoscopic Sinus Surgery: a 9-month Randomized, Open-label, Controlled Study Unknown status NCT02110654 Phase 4 Montelukast;mometasone furoate nasal spray
48 Optimal Planning of a Day 3 Cryopreserved(Frozen)-Thawed Embryo Transfer in a Natural Cycle With hCG Administration or After Spontaneous LH Peak? Unknown status NCT02145819 Phase 4 hCG
49 A Pilot Randomized, Open Label Study to Evaluate Efficacy and Safety of the Combination of RAL+ATV/r in Comparison With TDF/FTC+ATV/r in HIV Infected Patients, Who Failed an Initial NNRTI Containing Regimen Unknown status NCT01829802 Phase 4 Ritonavir boosted Atazanavir;Raltegravir;TDF/FTC (or 3TC)
50 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 2a

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Genetic Tests for Neurodegeneration with Brain Iron Accumulation 2a

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation 2a:

# Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy 29 PLA2G6
2 Pla2g6-Associated Neurodegeneration 29
3 Infantile Neuroaxonal Dystrophy 1 29
Sources

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 2a

About this section

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 2a:

41
Breast, Brain, Lung, Testes, Heart, Prostate, Bone
Sources

Publications for Neurodegeneration with Brain Iron Accumulation 2a

About this section

Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 252)
# Title Authors PMID Year
1
Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. 38 4 8 71
20584031 2010
2
Neurodegeneration associated with genetic defects in phospholipase A(2). 38 4 8 71
18799783 2008
3
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 38 4 8 71
16783378 2006
4
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. 38 8 71
17033970 2006
5
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. 38 4 8
10379598 1999
6
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. 38 4 8
10227637 1999
7
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 38 8
18981035 2009
8
PLA2G6-Associated Neurodegeneration 38 71
20301718 2008
9
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). 38 8
18443314 2008
10
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. 38 8
18202189 2008
11
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. 38 8
15365152 2004
12
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 9 38 4
11313741 2001
13
Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. 38 8
1659791 1991
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Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. 38 8
3314508 1987
15
Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. 38 8
3683759 1987
16
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. 38 8
2986047 1985
17
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 38 8
7158329 1982
18
Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. 38 8
7103414 1982
19
Infantile neuroaxonal dystrophy. 38 8
509195 1979
20
Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. 38 8
103487 1978
21
Infantile neuroaxonal dystrophy. 38 8
5829994 1965
22
INFANTILE NEUROAXONAL DYSTROPHY. 38 8
14237772 1965
23
Infantile neuroaxonal dystrophy. 38 8
14023529 1963
24
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 8
29395073 2018
25
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. 38 4
27516098 2016
26
A case of infantile neuroaxonal dystrophy of neonatal onset. 38 4
24870368 2015
27
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 38 4
27081553 2015
28
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 38 4
24745848 2014
29
Neurodegeneration with Brain Iron Accumulation Disorders Overview 71
23447832 2013
30
Syndromes of neurodegeneration with brain iron accumulation. 71
22704258 2012
31
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 38 4
20619503 2012
32
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. 38 4
20938027 2010
33
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 38 4
20886109 2010
34
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. 38 4
20226704 2010
35
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. 38 4
19138334 2009
36
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 38 4
18570303 2009
37
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 8
17142829 2007
38
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 38 4
8782044 1996
39
Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy. 8
418153 1978
40
Seitelberger's spastic amaurotic axonal idiocy. Report of a case in a 9-year-old boy with comment on visceral manifestations. 8
14425883 1960
41
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration. 4
27000981 2016
42
Impaired corticostriatal LTP and depotentiation following iPLA2 inhibition is restored following acute application of DHA. 4
25562715 2015
43
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. 4
25164370 2015
44
PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review. 4
26196026 2015
45
Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation. 4
30363890 2014
46
Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia. 4
24182522 2014
47
Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). 4
21520282 2011
48
Rare causes of dystonia parkinsonism. 4
20694531 2010
49
Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice. 4
20686114 2010
50
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. 4
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Sources

Variations for Neurodegeneration with Brain Iron Accumulation 2a

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ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2a:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLA2G6 NM_003560.4(PLA2G6): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs764959600 22:38565431-38565431 22:38169424-38169424
2 PLA2G6 deletion Pathogenic 22:38565225-38565478 :0-0
3 PLA2G6 NM_003560.4(PLA2G6): c.834G> C (p.Gln278His) single nucleotide variant Pathogenic rs1556010444 22:38531055-38531055 22:38135048-38135048
4 PLA2G6 NM_003560.4(PLA2G6): c.1547_1548dup (p.Gly517fs) duplication Pathogenic rs1555988204 22:38519144-38519145 22:38123137-38123138
5 PLA2G6 NM_003560.4(PLA2G6): c.1592-2A> C single nucleotide variant Pathogenic 22:38516918-38516918 22:38120911-38120911
6 PLA2G6 NM_003560.4(PLA2G6): c.929T> A (p.Val310Glu) single nucleotide variant Pathogenic rs121908682 22:38528986-38528986 22:38132979-38132979
7 PLA2G6 NM_003560.4(PLA2G6): c.2070_2072del (p.Val691del) deletion Pathogenic rs587784343 22:38509624-38509626 22:38113617-38113619
8 PLA2G6 NM_003560.4(PLA2G6): c.2370_2371del (p.Tyr790_Glu791delinsTer) deletion Pathogenic rs587784353 22:38508218-38508219 22:38112211-38112212
9 PLA2G6 NC_000022.11 deletion Pathogenic 22:38530413-38537093 22:38134406-38141086
10 PLA2G6 NM_003560.4(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 22:38565325-38565325 22:38169318-38169318
11 PLA2G6 NM_003560.4(PLA2G6): c.2222G> A (p.Arg741Gln) single nucleotide variant Pathogenic rs121908686 22:38508565-38508565 22:38112558-38112558
12 PLA2G6 NM_003560.4(PLA2G6): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs587784339 22:38511665-38511665 22:38115658-38115658
13 PLA2G6 NM_003560.4(PLA2G6): c.1931del (p.Phe644fs) deletion Pathogenic 22:38511637-38511637 22:38115630-38115630
14 PLA2G6 NC_000022.10: g.(?_38565205)_(38565453_?)del deletion Pathogenic 22:38565205-38565453 22:38169198-38169446
15 PLA2G6 NM_003560.4(PLA2G6): c.0_-46+1931delinsCGATCTC indel Pathogenic 22:38575740-38578170 22:38179733-38182163
16 PLA2G6 NM_003560.4(PLA2G6): c.1262del (p.Val421fs) deletion Pathogenic 22:38524362-38524362 22:38128355-38128355
17 PLA2G6 NM_003560.4(PLA2G6): c.2239C> T (p.Arg747Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908687 22:38508548-38508548 22:38112541-38112541
18 PLA2G6 NM_003560.4(PLA2G6): c.2370T> G (p.Tyr790Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908680 22:38508219-38508219 22:38112212-38112212
19 PLA2G6 NM_003560.4(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 22:38525530-38525530 22:38129523-38129523
20 PLA2G6 NM_003560.4(PLA2G6): c.2128C> T (p.Arg710Cys) single nucleotide variant Likely pathogenic rs587784347 22:38509568-38509568 22:38113561-38113561
21 PLA2G6 NM_003560.4(PLA2G6): c.1743-1G> C single nucleotide variant Likely pathogenic rs1555979401 22:38512219-38512219 22:38116212-38116212
22 PLA2G6 NM_003560.4(PLA2G6): c.1427+1G> A single nucleotide variant Likely pathogenic rs750939090 22:38522377-38522377 22:38126370-38126370
23 PLA2G6 NM_003560.4(PLA2G6): c.962T> C (p.Leu321Pro) single nucleotide variant Likely pathogenic 22:38528953-38528953 22:38132946-38132946
24 PLA2G6 NM_003560.4(PLA2G6): c.1186+1G> A single nucleotide variant Likely pathogenic 22:38525460-38525460 22:38129453-38129453
25 PLA2G6 NM_003560.4(PLA2G6): c.2129G> A (p.Arg710His) single nucleotide variant Conflicting interpretations of pathogenicity rs147455037 22:38509567-38509567 22:38113560-38113560
26 PLA2G6 NM_003560.4(PLA2G6): c.2277-2A> C single nucleotide variant Conflicting interpretations of pathogenicity rs552606315 22:38508314-38508314 22:38112307-38112307
27 PLA2G6 NM_003560.4(PLA2G6): c.1501G> C (p.Glu501Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587784332 22:38519192-38519192 22:38123185-38123185
28 PLA2G6 NM_003560.4(PLA2G6): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs147755372 22:38528943-38528943 22:38132936-38132936
29 PLA2G6 NM_003560.4(PLA2G6): c.2340C> T (p.Asn780=) single nucleotide variant Conflicting interpretations of pathogenicity rs138683183 22:38508249-38508249 22:38112242-38112242
30 PLA2G6 NM_003560.4(PLA2G6): c.2215G> C (p.Asp739His) single nucleotide variant Conflicting interpretations of pathogenicity rs587784349 22:38508572-38508572 22:38112565-38112565
31 PLA2G6 NM_003560.4(PLA2G6): c.991G> A (p.Asp331Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199935023 22:38528924-38528924 22:38132917-38132917
32 PLA2G6 NM_003560.4(PLA2G6): c.1797C> G (p.Phe599Leu) single nucleotide variant Uncertain significance rs1555979298 22:38512164-38512164 22:38116157-38116157
33 PLA2G6 NM_003560.4(PLA2G6): c.1039G> A (p.Gly347Arg) single nucleotide variant Uncertain significance 22:38528876-38528876 22:38132869-38132869
34 PLA2G6 NM_003560.4(PLA2G6): c.2035-55G> A single nucleotide variant Uncertain significance 22:38509716-38509716 22:38113709-38113709
35 PLA2G6 NM_003560.4(PLA2G6): c.1435C> G (p.His479Asp) single nucleotide variant Uncertain significance rs1235695530 22:38519258-38519258 22:38123251-38123251
36 PLA2G6 NM_003560.4(PLA2G6): c.355A> C (p.Ser119Arg) single nucleotide variant Uncertain significance rs747331639 22:38541515-38541515 22:38145508-38145508
37 PLA2G6 NM_003560.4(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Uncertain significance rs121908685 22:38541632-38541632 22:38145625-38145625
38 PLA2G6 NM_003560.4(PLA2G6): c.898G> A (p.Ala300Thr) single nucleotide variant Uncertain significance rs528966598 22:38529017-38529017 22:38133010-38133010
39 PLA2G6 NM_003560.4(PLA2G6): c.*541C> T single nucleotide variant Uncertain significance rs45473603 22:38507627-38507627 22:38111620-38111620
40 PLA2G6 NM_003560.4(PLA2G6): c.2068G> A (p.Val690Ile) single nucleotide variant Uncertain significance rs141777179 22:38509628-38509628 22:38113621-38113621
41 PLA2G6 NM_003560.4(PLA2G6): c.1904G> A (p.Arg635Gln) single nucleotide variant Uncertain significance rs387906863 22:38511664-38511664 22:38115657-38115657
42 PLA2G6 NM_003560.4(PLA2G6): c.1725G> A (p.Thr575=) single nucleotide variant Uncertain significance rs200599704 22:38516783-38516783 22:38120776-38120776
43 PLA2G6 NM_003560.4(PLA2G6): c.1615G> A (p.Gly539Ser) single nucleotide variant Uncertain significance rs143826762 22:38516893-38516893 22:38120886-38120886
44 PLA2G6 NM_003560.4(PLA2G6): c.16C> T (p.Arg6Cys) single nucleotide variant Uncertain significance rs143250889 22:38565418-38565418 22:38169411-38169411
45 PLA2G6 NM_003560.4(PLA2G6): c.*589C> G single nucleotide variant Uncertain significance rs11570771 22:38507579-38507579 22:38111572-38111572
46 PLA2G6 NM_003560.4(PLA2G6): c.*473C> T single nucleotide variant Uncertain significance rs886057498 22:38507695-38507695 22:38111688-38111688
47 PLA2G6 NM_003560.4(PLA2G6): c.1424G> A (p.Arg475Gln) single nucleotide variant Uncertain significance rs139184008 22:38522381-38522381 22:38126374-38126374
48 PLA2G6 NM_003560.4(PLA2G6): c.416G> A (p.Arg139His) single nucleotide variant Uncertain significance rs141825182 22:38541454-38541454 22:38145447-38145447
49 PLA2G6 NM_003560.4(PLA2G6): c.1408A> G (p.Met470Val) single nucleotide variant Uncertain significance rs201801144 22:38522397-38522397 22:38126390-38126390
50 PLA2G6 NM_003560.4(PLA2G6): c.1428-5T> G single nucleotide variant Uncertain significance rs1555988730 22:38519270-38519270 22:38123263-38123263

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2a:

74
# Symbol AA change Variation ID SNP ID
1 PLA2G6 p.Val310Glu VAR_029371 rs121908682
2 PLA2G6 p.Asp484Gly VAR_070600
3 PLA2G6 p.Thr661Met VAR_070601 rs767689496

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Expression for Neurodegeneration with Brain Iron Accumulation 2a

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Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 2a.
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Pathways for Neurodegeneration with Brain Iron Accumulation 2a

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Pathways related to Neurodegeneration with Brain Iron Accumulation 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 12.67 RPS27A PLA2G6 PANK2 NAGA FA2H
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GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

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Sources for Neurodegeneration with Brain Iron Accumulation 2a

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