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NBIA2A
MCID: NRD033
MIFTS: 69

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 56 12 73 15
Infantile Neuroaxonal Dystrophy 52 25 53 58 73 29 6 71
Seitelberger Disease 56 12 52 25 53 58 73
Infantile Neuroaxonal Dystrophy 1 56 12 73 29 13
Plan 56 24 52 58 73
Inad 56 52 25 58 73
Pla2g6-Associated Neurodegeneration 24 58 29 6
Inad1 12 52 58 73
Neuroaxonal Dystrophy, Infantile 56 52 54
Nbia2a 56 12 73
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 52 25
Phospholipase A2-Associated Neurodegeneration 52 58
Neurodegeneration, Pla2g6-Associated 56 12
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 52
Neurodegeneration, with Brain Iron Accumulation, Type 2a 39
Neurodegeneration with Brain Iron Accumulation 2b 52
Neurodegeneration with Brain Iron Accumulation 2 71
Neuroaxonal Dystrophy, Infantile; Inad; Inad1 56
Neurodegeneration, Pla2g6-Associated; Plan 56
Neurodegeneration Pla2g6-Associated 73
Dystrophy, Neuroaxonal, Infantile 39
Neuroaxonal Dystrophy, Atypical 52
Pla2g6-Related Disorders 24
Karak Syndrome, Included 52
Neuroaxonal Dystrophies 71
Seitelberger's Disease 25
Nbia, Pla2g6-Related 25
Nbia2b 52
Nbia2 24

Characteristics:

Orphanet epidemiological data:

58
infantile neuroaxonal dystrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
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: 32 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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 supranuclear palsy, progressive, 1 and dementia, and has symptoms including seizures, ataxia and dysdiadochokinesis. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2a is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Neuroscience and Eicosanoid Synthesis. 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 muscular hypotonia and optic atrophy

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.

NIH Rare Diseases : 52 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 : 56 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 : 53 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 : 73 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
Sources

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 1774)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 32.1 SNCA RPS27A APP
2 dementia 31.9 SNCA RPS27A ATP13A2 APP
3 leukoencephalopathy, hereditary diffuse, with spheroids 31.7 SNCA RPS27A APP
4 dementia, lewy body 31.3 SNCA RPS27A ATP13A2 APP
5 parkinson disease 14, autosomal recessive 30.7 SNCA PLA2G6
6 spastic paraplegia 35, autosomal recessive 30.3 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
7 hereditary spastic paraplegia 30.3 PLA2G6 FA2H C19orf12 ATP13A2
8 alcohol-related neurodevelopmental disorder 30.2 WDR45 C19orf12
9 early-onset parkinson's disease 29.9 SNCA PLA2G6 PANK2 C19orf12 ATP13A2
10 movement disease 29.4 SNCA PLA2G6 PANK2 FTL ATP13A2
11 communicating hydrocephalus 29.1 SNCA APP
12 parkinson disease, late-onset 29.0 SNCA RPS27A PLA2G6 NTF3 ATP13A2 APP
13 dystonia 27.6 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
14 neurodegeneration with brain iron accumulation 2b 26.9 WDR45 PNPLA2 PLA2G6 PANK2 PANK1 FTL
15 neurodegeneration with brain iron accumulation 1 26.0 WDR45 SNCA PLA2G6 PANK2 PANK1 FTL
16 neurodegeneration with brain iron accumulation 25.0 WDR45 SNCA PNPLA8 PNPLA2 PLA2G6 PANK2
17 neuroaxonal dystrophy 24.6 WDR45 SNCA PNPLA8 PNPLA2 PLA2G6 PANK2
18 osteopetrosis and infantile neuroaxonal dystrophy 12.6
19 systemic lupus erythematosus 11.6
20 alcohol use disorder 11.5
21 chronic fatigue syndrome 11.5
22 csf1r-related brain malformation and osteopetrosis 11.4
23 pulmonary disease, chronic obstructive 11.4
24 kidney disease 11.4
25 traumatic brain injury 11.4
26 diabetes mellitus 11.4
27 apraxia 11.3
28 hypoglycemia 11.3
29 major depressive disorder 11.3
30 eating disorder 11.3
31 developmental coordination disorder 11.3
32 developmental dyspraxia 11.3
33 hypertension, essential 11.3
34 typhoid fever 11.3
35 endogenous depression 11.3
36 fibromyalgia 11.3
37 machado-joseph disease 11.3
38 fetal alcohol syndrome 11.3
39 spinocerebellar ataxia 2 11.3
40 beta-thalassemia 11.3
41 obsessive-compulsive personality disorder 11.3
42 cluttering 11.3
43 prediabetes syndrome 11.1
44 dystonia 11, myoclonic 11.0
45 pancreas, annular 11.0
46 hyperoxaluria, primary, type i 11.0
47 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 11.0
48 smith-lemli-opitz syndrome 11.0
49 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.0
50 aplastic anemia 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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
6 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
7 seizure 31 occasional (7.5%) HP:0001250
8 decreased nerve conduction velocity 31 very rare (1%) HP:0000762
9 areflexia 31 very rare (1%) HP:0001284
10 hearing impairment 31 HP:0000365
11 intellectual disability 31 HP:0001249
12 global developmental delay 31 HP:0001263
13 seizures 58 Occasional (29-5%)
14 short nose 31 HP:0003196
15 abnormality of visual evoked potentials 31 HP:0000649
16 abnormal pyramidal sign 31 HP:0007256
17 spastic tetraplegia 31 HP:0002510
18 prominent forehead 31 HP:0011220
19 abnormality of metabolism/homeostasis 31 HP:0001939
20 generalized muscle weakness 31 HP:0003324
21 ataxia 31 HP:0001251
22 frontal bossing 31 HP:0002007
23 strabismus 31 HP:0000486
24 hyperreflexia 31 HP:0001347
25 micrognathia 31 HP:0000347
26 abnormality of eye movement 58 Very frequent (99-80%)
27 cerebellar atrophy 31 HP:0001272
28 cerebral atrophy 31 HP:0002059
29 visual loss 31 HP:0000572
30 generalized hypotonia 31 HP:0001290
31 unsteady gait 31 HP:0002317
32 neuronal loss in central nervous system 31 HP:0002529
33 emg: chronic denervation signs 31 HP:0003444
34 gliosis 31 HP:0002171
35 neurodegeneration 31 HP:0002180
36 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spastic tetraplegia
ataxia
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, dysdiadochokinesis, gait ataxia, bradykinesia, action tremor, muscle spasticity, cerebellar ataxia, weakness, abnormal pyramidal signs

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 2a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 APP ATP13A2 FA2H FTL NTF3 PANK1
2 cellular MP:0005384 9.65 APP ATP13A2 DCAF17 PANK1 PANK2 PLA2G6
3 homeostasis/metabolism MP:0005376 9.4 APP ATP13A2 FA2H FTL NTF3 PANK1
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 1439)
# 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
Interferon beta-1b Approved Phase 4 145155-23-3
5
Succinylcholine Approved Phase 4 306-40-1 5314
6
Adenosine Approved, Investigational Phase 4 58-61-7 60961
7
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
8
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
9
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
10
Temocillin Approved, Investigational Phase 4 66148-78-5
11
Desipramine Approved, Investigational Phase 4 50-47-5 2995
12
Clozapine Approved Phase 4 5786-21-0 2818
13
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
14
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
15
Propranolol Approved, Investigational Phase 4 525-66-6 4946
16
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
17
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
18
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
19
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
20
Simvastatin Approved Phase 4 79902-63-9 54454
21
Zidovudine Approved Phase 4 30516-87-1 35370
22
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
23
Cetirizine Approved Phase 4 83881-51-0 2678
24
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
25
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
26
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
27
Buserelin Approved, Investigational Phase 4 57982-77-1
28
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
29
Atenolol Approved Phase 4 29122-68-7 2249
30
Fosaprepitant Approved Phase 4 172673-20-0 219090
31
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 151165
32
Tamoxifen Approved Phase 4 10540-29-1 2733526
33 Strawberry Approved Phase 4
34
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
35
Pamidronate Approved Phase 4 40391-99-9 4674
36
Timolol Approved Phase 4 26839-75-8 5478 33624
37
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
38
Insulin glargine Approved Phase 4 160337-95-1
39
Mycophenolic acid Approved Phase 4 24280-93-1 446541
40
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
41
Travoprost Approved Phase 4 157283-68-6 5282226
42
Levocetirizine Approved Phase 4 130018-77-8 1549000
43 Orange Approved Phase 4
44
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
45
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
46
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
47
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
48
Piperacillin Approved Phase 4 66258-76-2 43672
49
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
50
Lithium carbonate Approved Phase 4 554-13-2

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 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
2 Safety and Efficacy of Shenyankangfu Tablets for Chronic Kidney Disease Unknown status NCT02885857 Phase 4 Shenyan Kangfu Tablet
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 Reduction of Symptomatic Ventricular Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
8 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
9 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
10 Cooperative Investigation Plan for Home Treatment of Pulmonary Embolism Unknown status NCT00214929 Phase 4
11 A Strategy of Home Telehealth for Management of Congestive Heart Failure: STARTEL Unknown status NCT00247000 Phase 4
12 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
13 Different Reintroduction Regimens of Antituberculosis Drugs After Development of Hepatitis During Anti-tuberculosis Treatment Unknown status NCT01395654 Phase 4 isoniazid, rifampin, pyrazinamide
14 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
15 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
16 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
17 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
18 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
19 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
20 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.
21 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
22 Phase 4 Study of Oral Calcitriol for Reduction of Mild Proteinuria in Patients With CKD Unknown status NCT01820832 Phase 4 Calcitriol
23 Sichuan Provincial People's Hospital Unknown status NCT03108521 Phase 4 Sitagliptin;Liraglutide
24 Effect of Peroperative Intravenous Infusion of Lignocaine on the Quality of Postoperative Sleep Unknown status NCT03317912 Phase 4 Lidocaïne 2%;Placebo (for Lidocaïne)
25 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
26 Effects of SGLT2 Inhibitor on Markers of Inflammation, Atherosclerosis and Left Ventricular Strain in Diabetic Patients With Coronary Artery Disease Unknown status NCT03398577 Phase 4 Dapagliflozin 10 MG [Farxiga];Placebo Oral Tablet
27 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
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 Impact on the Intestinal Microbiota of Treatment With Ceftriaxone in Women's Acute Community Pyelonephritis Unknown status NCT03179384 Phase 4 Ceftriaxone
31 Improving Cone-beam Computed Tomography for Image Guided Stereotactic Body Radiation Therapy of the Liver Using Gadoxetate Disodium Unknown status NCT03215355 Phase 4 Primovist
32 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
33 The Study of Rosuvastatin for Reduction of Postoperative Paroxysmal Atrial Fibrillation in Patient Undergoing Radiofrequency Catheter Ablation Unknown status NCT02502110 Phase 4 rosuvastatin
34 The Study of Standardized Preoperative Anti-tuberculosis Treatment of Surgical Treatment of Spinal Tuberculosis Patients Unknown status NCT02477852 Phase 4 Isoniazid;Rifampicin;Ethambutol;Pyrazinamide
35 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
36 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
37 Dental Caries Management by Risk Assessment: Identification and Treatment of Risk Factors Among Israeli Defence Force (IDF) Personnel Unknown status NCT01142440 Phase 4
38 Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer Unknown status NCT02757365 Phase 4 aspirin;Levofloxacin
39 Endostar Treatment of Advanced Non-small Cell Lung Cancer Multi-center Clinical Research Unknown status NCT02513355 Phase 4 Changchun marina;cisplatin;Taxol;parapl
40 The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients Unknown status NCT00247507 Phase 4 acetylcysteine
41 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)
42 Single Dose rATG for Treatment of Acute Renal Allograft Rejection Unknown status NCT02102854 Phase 4 rATG
43 A Randomized Comparison of Active Suction vs. Passive Chest Tube Drainage and Regulated and Unregulated Pleural Pressure After Anatomic Lung Resection Unknown status NCT02282462 Phase 4
44 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
45 Pharmacokinetic and Pharmacodynamic Evaluation of Linezolid Administered Intravenously in MRSA-positive, Morbidly Obese Patients With Pneumonia Unknown status NCT01805284 Phase 4 Linezolid
46 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
47 Prospective Randomize Trial Comparing Corticosteroid Injection to High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
48 Inspiratory Capacity and HRCT Comparison of Nebulized Arformoterol (Brovana) vs. Dry-powder Inhaler Salmeterol (Serevent) Unknown status NCT01361984 Phase 4 Nebulized arformoterol;Salmeterol
49 The Effect of Moxonidine and Regression of Early Target Organ Damage in Young Subjects With Abdominal Obesity and Hypertension: a Randomised, Double Blind, Active Comparator Clinical Trial Unknown status NCT01360710 Phase 4 Moxonidine;Irbesartan
50 A Novel Method of Preoxygenation Using Partial Rebreathing Via a Coaxial Mapleson D Breathing System (Bain Circuit) Unknown status NCT00958178 Phase 4 Oxygen

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:

40
Breast, Brain, Lung, Testes, Prostate, Heart, Liver
Sources

Publications for Neurodegeneration with Brain Iron Accumulation 2a

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Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 260)
# 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. 24 56 61 6
20584031 2010
2
Neurodegeneration associated with genetic defects in phospholipase A(2). 24 56 6 61
18799783 2008
3
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 61 56 6 24
16783378 2006
4
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. 61 56 6
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Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. 24 56 61
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Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. 61 24 56
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Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 56 61
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PLA2G6-Associated Neurodegeneration 61 6
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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). 61 56
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Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. 61 56
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11
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. 56 61
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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 54 61 24
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Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. 61 56
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Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. 61 56
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Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. 56 61
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Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. 56 61
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Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 61 56
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Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. 61 56
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Infantile neuroaxonal dystrophy. 61 56
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Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. 56 61
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Infantile neuroaxonal dystrophy. 56 61
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INFANTILE NEUROAXONAL DYSTROPHY. 61 56
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Infantile neuroaxonal dystrophy. 56 61
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24
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 56
29395073 2018
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Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. 61 24
27516098 2016
26
A case of infantile neuroaxonal dystrophy of neonatal onset. 61 24
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27
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 61 24
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28
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 24 61
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Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
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Syndromes of neurodegeneration with brain iron accumulation. 6
22704258 2012
31
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 61 24
20619503 2012
32
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. 61 24
20938027 2010
33
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 24 61
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. 61 24
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35
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. 24 61
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36
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 61 24
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37
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 56
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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 24 61
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Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy. 56
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Seitelberger's spastic amaurotic axonal idiocy. Report of a case in a 9-year-old boy with comment on visceral manifestations. 56
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Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration. 24
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Impaired corticostriatal LTP and depotentiation following iPLA2 inhibition is restored following acute application of DHA. 24
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Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. 24
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PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review. 24
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Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation. 24
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Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia. 24
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Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). 24
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Rare causes of dystonia parkinsonism. 24
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Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice. 24
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50
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. 24
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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 156) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLA2G6 NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile)SNV Pathogenic 429031 rs764959600 22:38565431-38565431 22:38169424-38169424
2 PLA2G6 NM_003560.4(PLA2G6):c.1743-1G>CSNV Pathogenic 437466 rs1555979401 22:38512219-38512219 22:38116212-38116212
3 PLA2G6 NM_003560.4(PLA2G6):c.1592-2A>CSNV Pathogenic 561085 rs1465629909 22:38516918-38516918 22:38120911-38120911
4 PLA2G6 NM_003560.4(PLA2G6):c.1931del (p.Phe644fs)deletion Pathogenic 570347 rs1569243565 22:38511637-38511637 22:38115630-38115630
5 PLA2G6 NC_000022.11:g.(?_38169198)_(38169446_?)deldeletion Pathogenic 583663 22:38565205-38565453 22:38169198-38169446
6 PLA2G6 NM_003560.4(PLA2G6):c.0_-46+1931delinsCGATCTCindel Pathogenic 584440 22:38575740-38578170 22:38179733-38182163
7 PLA2G6 NM_003560.4(PLA2G6):c.1262del (p.Val421fs)deletion Pathogenic 652932 22:38524362-38524362 22:38128355-38128355
8 PLA2G6 NM_003560.4(PLA2G6):c.2035-2A>GSNV Pathogenic 692050 22:38509663-38509663 22:38113656-38113656
9 PLA2G6 NM_003560.4(PLA2G6):c.2276+1G>ASNV Pathogenic 803689 22:38508510-38508510 22:38112503-38112503
10 PLA2G6 NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)SNV Pathogenic 803691 22:38512189-38512189 22:38116182-38116182
11 PLA2G6 NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)SNV Pathogenic 846843 22:38528854-38528854 22:38132847-38132847
12 PLA2G6 NM_003560.4(PLA2G6):c.1880-1G>CSNV Pathogenic 813442 22:38511689-38511689 22:38115682-38115682
13 PLA2G6 NM_003560.4(PLA2G6):c.1187-1G>ASNV Pathogenic 813443 22:38524438-38524438 22:38128431-38128431
14 PLA2G6 NC_000022.11:g.(?_38132114)_(38135084_?)deldeletion Pathogenic 832743 22:38528121-38531091
15 PLA2G6 NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)SNV Pathogenic 803694 22:38565270-38565270 22:38169263-38169263
16 PLA2G6 NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)SNV Pathogenic 6197 rs121908682 22:38528986-38528986 22:38132979-38132979
17 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)deletion Pathogenic 6198 rs587784343 22:38509624-38509626 22:38113617-38113619
18 PLA2G6 NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)deletion Pathogenic 6201 rs587784353 22:38508218-38508219 22:38112211-38112212
19 PLA2G6 NC_000022.11:g.(38134406_38134454)_(38141038_38141086)deldeletion Pathogenic 30369 22:38530413-38537093 22:38134406-38141086
20 PLA2G6 NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)SNV Pathogenic 30370 rs200075782 22:38565325-38565325 22:38169318-38169318
21 PLA2G6 NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)SNV Pathogenic 159749 rs587784339 22:38511665-38511665 22:38115658-38115658
22 PLA2G6 NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)SNV Pathogenic 265448 rs530348521 22:38508566-38508566 22:38112559-38112559
23 PLA2G6 deletion Pathogenic 374373 22:38565225-38565478
24 PLA2G6 NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)SNV Pathogenic/Likely pathogenic 159728 rs587784327 22:38525530-38525530 22:38129523-38129523
25 PLA2G6 NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)SNV Pathogenic/Likely pathogenic 159784 rs587784363 22:38528929-38528929 22:38132922-38132922
26 PLA2G6 NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)SNV Pathogenic/Likely pathogenic 6203 rs121908686 22:38508565-38508565 22:38112558-38112558
27 PLA2G6 NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)SNV Pathogenic/Likely pathogenic 6204 rs121908687 22:38508548-38508548 22:38112541-38112541
28 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)SNV Pathogenic/Likely pathogenic 6195 rs121908680 22:38508219-38508219 22:38112212-38112212
29 PLA2G6 NM_003560.4(PLA2G6):c.1427+1G>ASNV Pathogenic/Likely pathogenic 437465 rs750939090 22:38522377-38522377 22:38126370-38126370
30 PLA2G6 NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)duplication Pathogenic/Likely pathogenic 523033 rs1555988204 22:38519144-38519145 22:38123137-38123138
31 PLA2G6 NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)SNV Likely pathogenic 634473 rs1569264087 22:38528953-38528953 22:38132946-38132946
32 PLA2G6 NM_003560.4(PLA2G6):c.1186+1G>ASNV Likely pathogenic 635025 rs761815070 22:38525460-38525460 22:38129453-38129453
33 PLA2G6 NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val)SNV Likely pathogenic 803692 22:38516884-38516884 22:38120877-38120877
34 PLA2G6 NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)SNV Likely pathogenic 803693 22:38519198-38519198 22:38123191-38123191
35 PLA2G6 NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)SNV Likely pathogenic 803690 22:38512183-38512183 22:38116176-38116176
36 PLA2G6 NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)SNV Likely pathogenic 522674 rs1556010444 22:38531055-38531055 22:38135048-38135048
37 PLA2G6 NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)SNV Likely pathogenic 803688 22:38508239-38508239 22:38112232-38112232
38 PLA2G6 NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)SNV Likely pathogenic 807465 22:38536029-38536029 22:38140022-38140022
39 PLA2G6 NM_003560.4(PLA2G6):c.1942G>A (p.Gly648Arg)SNV Likely pathogenic 242578 rs794729212 22:38511626-38511626 22:38115619-38115619
40 PLA2G6 NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)SNV Likely pathogenic 159759 rs587784347 22:38509568-38509568 22:38113561-38113561
41 PLA2G6 NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)SNV Conflicting interpretations of pathogenicity 159761 rs587784349 22:38508572-38508572 22:38112565-38112565
42 PLA2G6 NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)SNV Conflicting interpretations of pathogenicity 159744 rs200599704 22:38516783-38516783 22:38120776-38120776
43 PLA2G6 NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)SNV Conflicting interpretations of pathogenicity 159740 rs143826762 22:38516893-38516893 22:38120886-38120886
44 PLA2G6 NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)SNV Conflicting interpretations of pathogenicity 159733 rs587784332 22:38519192-38519192 22:38123185-38123185
45 PLA2G6 NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)SNV Conflicting interpretations of pathogenicity 211910 rs140758033 22:38508172-38508172 22:38112165-38112165
46 PLA2G6 NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)SNV Conflicting interpretations of pathogenicity 235257 rs528966598 22:38529017-38529017 22:38133010-38133010
47 PLA2G6 NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)SNV Conflicting interpretations of pathogenicity 159771 rs150190277 22:38539226-38539226 22:38143219-38143219
48 PLA2G6 NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)SNV Conflicting interpretations of pathogenicity 341634 rs749966284 22:38508528-38508528 22:38112521-38112521
49 PLA2G6 NM_003560.4(PLA2G6):c.1428-8C>TSNV Conflicting interpretations of pathogenicity 772408 22:38519273-38519273 22:38123266-38123266
50 PLA2G6 NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)SNV Conflicting interpretations of pathogenicity 706223 22:38511585-38511585 22:38115578-38115578

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

73
# 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
4 PLA2G6 p.Ala341Thr VAR_083527
5 PLA2G6 p.Gly517Cys VAR_083528
6 PLA2G6 p.Gly638Arg VAR_083529
7 PLA2G6 p.Arg741Trp VAR_083530

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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
Neuroscience 4
11.79 SNCA RPS27A ATP13A2 APP
2
Eicosanoid Synthesis 1
10.54 PNPLA8 PLA2G6
3
Pantothenate and CoA biosynthesis 36
10.08 PANK2 PANK1 COASY
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GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 WDR45 SNCA RPS27A PNPLA2 PLA2G6 PANK2
2 cytoplasm GO:0005737 9.44 WDR45 SNCA RPS27A PNPLA8 PNPLA2 PLA2G6
3 synaptic vesicle GO:0008021 9.33 SNCA NTF3 APP

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.63 PNPLA8 PNPLA2 PLA2G6
2 cellular protein metabolic process GO:0044267 9.62 SNCA RPS27A PNPLA2 APP
3 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.61 SNCA NTF3 APP
4 regulation of presynapse assembly GO:1905606 9.56 SNCA APP
5 microglial cell activation GO:0001774 9.55 SNCA APP
6 cellular response to copper ion GO:0071280 9.54 SNCA APP
7 phosphatidylcholine acyl-chain remodeling GO:0036151 9.52 PNPLA8 PLA2G6
8 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.51 PNPLA8 PLA2G6
9 positive regulation of exocytosis GO:0045921 9.49 SNCA PLA2G6
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 SNCA APP
11 lipid homeostasis GO:0055088 9.43 PNPLA8 PNPLA2 ATP13A2
12 phosphatidylcholine catabolic process GO:0034638 9.4 PNPLA8 PLA2G6
13 cellular response to manganese ion GO:0071287 9.37 ATP13A2 APP
14 phosphatidylethanolamine catabolic process GO:0046338 9.16 PNPLA8 PLA2G6
15 coenzyme A biosynthetic process GO:0015937 9.13 PANK2 PANK1 COASY
16 coenzyme biosynthetic process GO:0009108 8.8 PANK2 PANK1 COASY

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.37 WDR45 ATP13A2
2 ferrous iron binding GO:0008198 9.32 SNCA FTL
3 lysophospholipase activity GO:0004622 9.26 PNPLA8 PLA2G6
4 phosphatidyl phospholipase B activity GO:0102545 9.16 PNPLA8 PLA2G6
5 calcium-independent phospholipase A2 activity GO:0047499 8.96 PNPLA8 PLA2G6
6 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1
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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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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