NBIA2A
MCID: NRD033
MIFTS: 70

Neurodegeneration with Brain Iron Accumulation 2a (NBIA2A)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 2a

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

Name: Neurodegeneration with Brain Iron Accumulation 2a 57 12 73 15
Infantile Neuroaxonal Dystrophy 20 43 53 58 73 29 6 71
Seitelberger Disease 57 12 20 43 53 58 73
Infantile Neuroaxonal Dystrophy 1 57 12 73 29 13
Plan 57 25 20 58 73
Inad 57 20 43 58 73
Pla2g6-Associated Neurodegeneration 25 58 29 6
Inad1 12 20 58 73
Neuroaxonal Dystrophy, Infantile 57 20 54
Nbia2a 57 12 73
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 20 43
Phospholipase A2-Associated Neurodegeneration 20 58
Neurodegeneration, Pla2g6-Associated 57 12
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 20
Neurodegeneration, with Brain Iron Accumulation, Type 2a 39
Neurodegeneration with Brain Iron Accumulation 2b 20
Neurodegeneration with Brain Iron Accumulation 2 71
Neuroaxonal Dystrophy, Infantile; Inad; Inad1 57
Neurodegeneration, Pla2g6-Associated; Plan 57
Neurodegeneration Pla2g6-Associated 73
Dystrophy, Neuroaxonal, Infantile 39
Neuroaxonal Dystrophy, Atypical 20
Pla2g6-Related Disorders 25
Karak Syndrome, Included 20
Neuroaxonal Dystrophies 71
Seitelberger's Disease 43
Nbia, Pla2g6-Related 43
Nbia2b 20
Nbia2 25

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Neurodegeneration with Brain Iron Accumulation 2a

MedlinePlus Genetics : 43 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 spastic paraplegia 35, autosomal recessive and dementia, lewy body, 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 Glucose / Energy Metabolism and Neuroscience. The drugs Clavulanate and Esketamine have been mentioned in the context of this disorder. Affiliated tissues include prostate, brain and liver, and related phenotypes are developmental regression and cerebellar 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.

GARD : 20 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) (Updated 05-Mar-2021)

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

Related Diseases for Neurodegeneration with Brain Iron Accumulation 2a

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 998)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 35, autosomal recessive 31.2 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
2 dementia, lewy body 30.8 RPS27A PLA2G6 FBXO7 ATP13A2 APP
3 alcohol-related neurodevelopmental disorder 30.3 WDR45 C19orf12
4 hereditary spastic paraplegia 30.1 PLA2G6 FA2H C19orf12 ATP13A2
5 early-onset parkinson's disease 29.9 PLA2G6 FBXO7 C19orf12 ATP13A2
6 iron metabolism disease 29.7 PANK2 FTL CP
7 parkinson disease, late-onset 28.7 TOMM20 RPS27A PLA2G6 FBXO7 CP ATP13A2
8 dystonia 28.7 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
9 neuroaxonal dystrophy 28.3 WDR45 PNPLA8 PNPLA2 PLA2G6 PANK2 PANK1
10 movement disease 28.2 WDR45 PLA2G6 PANK2 PANK1 FTL FBXO7
11 neurodegeneration with brain iron accumulation 2b 28.1 PNPLA8 PNPLA2 PLA2G6 PANK2 PANK1 FTL
12 neurodegeneration with brain iron accumulation 1 28.0 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
13 neurodegeneration with brain iron accumulation 27.9 WDR45 PNPLA2 PLA2G6 PANK2 PANK1 FTL
14 osteopetrosis and infantile neuroaxonal dystrophy 11.4
15 csf1r-related brain malformation and osteopetrosis 11.2
16 lupus erythematosus 11.1
17 stuttering 11.1
18 chronic fatigue syndrome 11.0
19 prediabetes syndrome 11.0
20 dementia 11.0
21 pulmonary disease, chronic obstructive 10.9
22 alcohol use disorder 10.9
23 diabetes mellitus 10.9
24 cerebral palsy 10.9
25 hypoglycemia 10.9
26 hypertension, essential 10.9
27 typhoid fever 10.9
28 kidney disease 10.9
29 fibromyalgia 10.9
30 beta-thalassemia 10.8
31 fetal alcohol spectrum disorder 10.8
32 leukoencephalopathy, hereditary diffuse, with spheroids 10.8
33 hyperoxaluria, primary, type i 10.8
34 smith-lemli-opitz syndrome 10.8
35 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.8
36 aplastic anemia 10.8
37 pitt-hopkins syndrome 10.8
38 spinocerebellar ataxia 36 10.8
39 ceroid lipofuscinosis, neuronal, 11 10.8
40 fragile x-associated tremor/ataxia syndrome 10.8
41 foxp2-related speech and language disorders 10.8
42 tango2-related metabolic encephalopathy and arrhythmias 10.8
43 acquired pure red cell aplasia 10.8
44 developmental dyspraxia 10.8
45 asthma 10.5
46 human immunodeficiency virus type 1 10.5
47 disease of mental health 10.5
48 poliomyelitis 10.4
49 covid-19 10.4
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4

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



Diseases related to Neurodegeneration with Brain Iron Accumulation 2a

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 2a

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

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
2 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
3 psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002361
4 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
5 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
8 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
9 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
10 bulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002483
11 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
12 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
13 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
14 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
15 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
16 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
17 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
18 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
19 diffuse axonal swelling 58 31 frequent (33%) Frequent (79-30%) HP:0003405
20 iron accumulation in globus pallidus 58 31 frequent (33%) Frequent (79-30%) HP:0012677
21 cerebellar gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0012698
22 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
23 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
24 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
25 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
26 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
27 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
28 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
29 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
30 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
31 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
32 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
33 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
34 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
35 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
36 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
37 temperature instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0005968
38 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
39 pendular nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012043
40 choking episodes 58 31 very rare (1%) Very rare (<4-1%) HP:0030842
41 apneic episodes in infancy 58 31 very rare (1%) Very rare (<4-1%) HP:0005949
42 upgaze palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0025331
43 downbeat nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0010545
44 vegetative state 58 31 very rare (1%) Very rare (<4-1%) HP:0031358
45 decreased nerve conduction velocity 31 very rare (1%) HP:0000762
46 areflexia 31 very rare (1%) HP:0001284
47 seizure 31 very rare (1%) HP:0001250
48 nystagmus 58 31 Occasional (29-5%) HP:0000639
49 intellectual disability 31 HP:0001249
50 seizures 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 APP ATP13A2 COASY CP FA2H FBXO7
2 cellular MP:0005384 9.73 APP ATP13A2 COASY CP DCAF17 FBXO7
3 homeostasis/metabolism MP:0005376 9.47 APP ATP13A2 COASY CP FA2H FBXO7

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 2a

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

(show top 50) (show all 954)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
2
Esketamine Approved, Investigational Phase 4 33643-46-8
3
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
4
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
5
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
6
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
7
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
8
Streptokinase Approved, Investigational Phase 4 9002-01-1
9
Coal tar Approved Phase 4 8007-45-2
10
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
11
Insulin glargine Approved Phase 4 160337-95-1
12
Insulin lispro Approved Phase 4 133107-64-9
13
Insulin aspart Approved Phase 4 116094-23-6 16132418
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15
Losartan Approved Phase 4 114798-26-4 3961
16
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
17
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
18
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
19
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Mycophenolic acid Approved Phase 4 24280-93-1 446541
22
Ezetimibe Approved Phase 4 163222-33-1 150311
23
Remifentanil Approved Phase 4 132875-61-7 60815
24
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
25
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
26
Fondaparinux Approved, Investigational Phase 4 104993-28-4
27
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
28
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
29 Artichoke Approved Phase 4
30
Alprazolam Approved, Illicit, Investigational Phase 4 28981-97-7 2118
31
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
32
Baclofen Approved Phase 4 1134-47-0 2284
33
Mebendazole Approved, Vet_approved Phase 4 31431-39-7 4030
34
Piperazine Approved, Vet_approved Phase 4 110-85-0 4837
35
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
36
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
37
Clozapine Approved Phase 4 5786-21-0 2818
38
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
39
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
40
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
41
Zoledronic Acid Approved Phase 4 118072-93-8 68740
42
Zinc Approved, Investigational Phase 4 7440-66-6 32051
43
Memantine Approved, Investigational Phase 4 19982-08-2 4054
44
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
45
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2, 11096-26-7
46
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
47
Empagliflozin Approved Phase 4 864070-44-0
48
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
49
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
50
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168

Interventional clinical trials:

(show top 50) (show all 4968)
# Name Status NCT ID Phase Drugs
1 Long-term Effect of an Health Education Program on Daily Physical Activity in Patients With Moderate to Very Severe Chronic Obstructive Pulmonary Disease Unknown status NCT02924870 Phase 4
2 Clinical, Microbiological and Biochemical Effects of the Antimicrobial Photodynamic Therapy Unknown status NCT01532674 Phase 4
3 Optimal Multimodal Analgesia in Abdominal Hysterectomy Unknown status NCT00209872 Phase 4 Gabapentin;Lidocaine;S-ketamine
4 Effect of Lactobacillus Reuteri DSM 17938 to Prevent Antibiotic-associated Diarrhea in Children: Prospective, Multi-center, Randomize, Parallel Group Placebo Controlled Clinical Trial Unknown status NCT02765217 Phase 4 Lactobacillus reuteri DSM 17938;Placebo;Amoxicillin-Clavulanic Acid
5 Study of Optimal Treatment Plan in Hypertensives With Anti-AT1-Receptor Autoantibody Unknown status NCT00360763 Phase 4 candesartan cilexetil
6 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
7 Cooperative Investigation Plan for Home Treatment of Pulmonary Embolism Unknown status NCT00214929 Phase 4
8 Prospective Multicenter Study of the Role of Positron Emission Mammography (PEM) in Pre-Surgical Planning for Breast Cancer Unknown status NCT00484614 Phase 4
9 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
10 Reduction of Symptomatic Ventricular Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
11 Long-term Effect of Nasal Continuous Positive Airway Pressure on Lipid Profile in Patients With Dyslipidaemia and Mild-moderate Obstructive Sleep Apnea Unknown status NCT02557412 Phase 4
12 Pre-hYpertension tReament With A coMbinatIon of Dietary Supplements and Life-style Modifications Unknown status NCT01682291 Phase 4
13 Regional Tolvaptan Registry Unknown status NCT02666651 Phase 4 Tolvaptan
14 A Multicenter Study to Compare the Efficacy of a Prophylactic Use of Tenofovir by Duration for the Non-Hodgkin's Lymphoma Patients With Isolated Anti-HBc-positivity Who Will be Treated With Rituximab Based Chemotherapy Unknown status NCT02585947 Phase 4 Tenofovir
15 Personalized Medicine in HCV Chronic Infection. Endothelial Dysfunction and Subclinical Atheromatosis in Patients With HCV Infection. Characterization and Potential Reversibility With Direct Antiviral Agents. Unknown status NCT02802280 Phase 4
16 Assessment of the Effect of Moxonidine and Diet on Cardiac, Renal and Endothelial Function in Young Subjects With Abdominal Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
17 A Cognitive Behavioral Therapy Group Intervention for Adolescents With Attention-Deficit / Hyperactivity Disorder Unknown status NCT02566824 Phase 4 Methylphenidate or amphetamine product
18 Personalized Medicine in HCV Infection: Cognitive Impairments and Brain Anomalies in Chronic Hepatitis C Infected Individuals. Characterization and Potential Reversibility With Direct Antiviral Agents. Unknown status NCT02745132 Phase 4
19 Evaluating Different Modalities for Pleural Adhesiolysis at Assuit University Hospital Unknown status NCT03172052 Phase 4 streptokinase;MESNA (2-mercaptoethane sulfonate Na)
20 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
21 A Randomized, Open-label, Comparative, Non-inferiority, Multicenter Study to Compare Efficacy of Losartan Potassium Group and Carvedilol Group on Arterial Stiffness in Essential Hypertension Patients Completed NCT00496834 Phase 4 losartan potassium;Comparator: carvedilol;Comparator: losartan (+) hydrochlorothiazide (HCTZ);Comparator: carvedilol (+) hydrochlorothiazide
22 Rectal Indomethacin Use in Pain Relief During Intrauterine Device Insertion: A Randomized Controlled Trial Completed NCT02711358 Phase 4 indomethacin suppositories;placebo
23 A Randomized Controlled Trial of 2 Different Methods for Pain Relief During Intrauterine Device Insertion Completed NCT02714231 Phase 4 diclofenac sodium (cataflam);hyoscine butyl bromide (buscopan)
24 Safety and Efficacy of the Early Introduction of Everolimus (Certican®) With Low Dose of Cyclosporine in de Novo Kidney Recipients After 1 Month of Transplantation Completed NCT01706471 Phase 4 Everolimus + Low dose CsA +PD;Myfortic+ Standard CsA + PD
25 Effects of Different Doses of Remifentanil on Hemodynamic Response to Anesthesia Induction in Elderly Patients Completed NCT02763098 Phase 4 Remi 0.1;Remi 0.2;Remi 0.3
26 FondaparinUx Trial With Unfractionated Heparin (UFH) During Revascularization in Acute Coronary Syndromes (ACS) (FUTURA). A Prospective Study Evaluating the Safety of Two Regimens of Adjunctive Intravenous UFH During PCI in High Risk Patients With Unstable Angina/Non ST Segment Elevation Myocardial Infarction (UA/NSTEMI) Initially Treated With Subcutaneous Fondaparinux and Referred for Early Coronary Angiography (OASIS 8) Completed NCT00790907 Phase 4 fondaparinux background and standard dose UFH;Fondaparinux background and low dose heparin;Open label fondaparinux
27 Botulinum Toxin A for the Treatment of Cervical/Shoulder Pain Following Acute Spinal Cord Injury. Completed NCT00320281 Phase 4 botulinum toxin A
28 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
29 Efficacy of Aerobic Exercise Added to Alprazolam in Panic Disorder Treatment: a Clinical Randomized Trial Completed NCT00803400 Phase 4 Alprazolam;Alprazolam + Aerobic exercise
30 A Single-center, Prospective,Randomized Study of Antiplatelet Effects of Ticagrelor Versus Clopidogrel in Patients With Dual Anti-platelet Therapy After Coronary Artery Bypass Grafting Completed NCT02330640 Phase 4 ticagrelor;clopidogrel;asprin
31 Increasing CRC Screening in Health Plan Members Completed NCT00134589 Phase 4
32 Phase IV Study; Strategy for Early Treatment of Exacerbations in COPD: Standing Prescriptions of Advair With a Written Action Plan in the Event of an Exacerbation Completed NCT02136875 Phase 4 Double dose of Salmeterol + Fluticasone Propionate;Self-administered prescription
33 Does the Use of a New Written Action Plan Increase Short-term Adherence to Prescribed Medication and Asthma Control in Children Treated for an Asthma Attack in the Emergency Department: A Randomized Controlled Trial. Completed NCT00381355 Phase 4
34 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
35 Plication of the Rectus Abdominis in Two Planes and in One Continuous Suture Plan Completed NCT02674035 Phase 4
36 Double-Blind, Placebo-Controlled, Randomized, Prospective, Two-Stage, Two-Arm Study to Evaluate the Efficaciousness and Safety of a Double Treatment Plan Using a Combination of Mebendazole and Quinfamide for Treating Intestinal Helminthiasis and Amebiasis in the Mexican Population Completed NCT02385058 Phase 4 Mebendazole;Quinfamide;Placebo
37 Clinical, Microbiological and Immunological Effects of Antimicrobial Photodynamic Therapy on Non-surgical Treatment of Aggressive Periodontitis: a Double-blind Split-mouth Randomized Controlled Clinical Trial. Completed NCT02049008 Phase 4
38 Amisulpride Augmentation Therapy for Clozapine-resistant Schizophrenic Patients: A 14-week Randomized, Double-blind and Placebo-controlled Trial Completed NCT01105481 Phase 4 Amisulpride add-on;Placebo add-on
39 The Long-Term Quitting Study: Testing Relapse Recovery Intervention Components Completed NCT02564315 Phase 4 Nicotine Mini-Lozenge for 11 Months;Cessation Phase Nicotine Patch + Nicotine Mini-Lozenge
40 A New Method for Pain Relief, Intravenous Cannulation in Pediatric Patients; A Randomized Prospective Clinical Trial. Completed NCT04246255 Phase 4 Xylocaine 10% Oral;Placebo- Serum Fizyolojik Izotonik 0,9% 10 ml ampul
41 The Effect of Supplemental Oxygen During Physical Exercise Training on Exercise Capacity in COPD Patients. Completed NCT01150383 Phase 4
42 d68Ga-DOTATATE PET/CT Assessment of Cardiac Sarcoidosis Completed NCT03549598 Phase 4 68Ga-DOTATATE PET/CT;18FDG PET/CT scan;13NH3 PET/CT scan
43 IMMUNINE - Purified Factor IX Concentrate Virus-Inactivated: A Phase 4, Prospective, Open-label Multicenter Study to Prospectively Document the Exposure of IMMUNINE and to Monitor FIX Inhibitors in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B Who Are Planned to Enter BAX 326 Study 250901 to Investigate a New Recombinant FIX Concentrate Completed NCT01128881 Phase 4
44 The Effect of Darbepoetin Alfa Treatment Upon the Rehabilitation Following Planned Surgery for Colorectal Cancer Completed NCT00122720 Phase 4 Darbepoetin Alfa
45 Depo Provera Self-Administration Study: Putting a Patient-Centered Practice to the Test at Planned Parenthood Completed NCT02509767 Phase 4 Subcutaneous depot medroxyprogesterone acetate
46 A 30 Day International, Randomized, Parallel-group, Double-blind, Placebo-controlled Phase IV Study to Evaluate Efficacy and Safety of Pre-hospital vs. In-hospital Initiation of Ticagrelor Therapy in STEMI Patients Planned for PCI. Completed NCT01347580 Phase 4 Ticagrelor;Placebo
47 Optimal Planning of a Day 3 Cryopreserved(Frozen)-Thawed Embryo Transfer in a Natural Cycle With hCG Administration or After Spontaneous LH Peak? Completed NCT02145819 Phase 4 hCG
48 Interest in Programming Caesarean Section at 38 Weeks of Pregnancy With Antenatal Betamethasone to Prevent Neonatal Respiratory Distress and to Avoid Emergency Caesarean Section Before Planned Date. Completed NCT00446953 Phase 4 betamethasone
49 Outcomes of Planned Conversion From Tacrolimus to Sirolimus-based Immunosuppressive Regimen in de Novo Kidney Transplant Recipients Completed NCT01802268 Phase 4 Conversion from Tacrolimus to Sirolimus;Maintenance on tacrolimus
50 A Randomised Controlled Trial to Compare Unfractionated Heparin Versus Bivalirudin in the Treatment of Patients With a Clinical Diagnosis of ST-Segment Elevation Myocardial Infarction Events - For Planned Management With Primary PCI Completed NCT01519518 Phase 4 unfractionated heparin;Bivalirudin

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

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 2a

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

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 2a

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

40
Prostate, Brain, Liver, Breast, Bone, Skin, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 2a

Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 255)
# 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. 61 6 57 25
20584031 2010
2
Neurodegeneration associated with genetic defects in phospholipase A(2). 25 57 6 61
18799783 2008
3
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 57 61 6 25
16783378 2006
4
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. 61 6 57
17033970 2006
5
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. 61 57 25
10379598 1999
6
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. 25 61 57
10227637 1999
7
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 61 57
18981035 2009
8
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). 57 61
18443314 2008
9
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. 61 57
18202189 2008
10
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. 57 61
15365152 2004
11
Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. 57 61
1659791 1991
12
Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. 61 57
3314508 1987
13
Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. 57 61
3683759 1987
14
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. 57 61
2986047 1985
15
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 61 57
7158329 1982
16
Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. 57 61
7103414 1982
17
Infantile neuroaxonal dystrophy. 57 61
509195 1979
18
Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. 61 57
103487 1978
19
Infantile neuroaxonal dystrophy. 57 61
5829994 1965
20
INFANTILE NEUROAXONAL DYSTROPHY. 61 57
14237772 1965
21
Infantile neuroaxonal dystrophy. 57 61
14023529 1963
22
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 57
29395073 2018
23
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. 25 61
27516098 2016
24
A case of infantile neuroaxonal dystrophy of neonatal onset. 25 61
24870368 2015
25
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 61 25
27081553 2015
26
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 61 25
24745848 2014
27
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 61 25
20619503 2012
28
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. 25 61
20938027 2010
29
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 25 61
20886109 2010
30
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. 61 25
20226704 2010
31
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. 61 25
19138334 2009
32
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 25 61
18570303 2009
33
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 57
17142829 2007
34
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 25 61
11313741 2001
35
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 25 61
8782044 1996
36
Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy. 57
418153 1978
37
Seitelberger's spastic amaurotic axonal idiocy. Report of a case in a 9-year-old boy with comment on visceral manifestations. 57
14425883 1960
38
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration. 25
27000981 2016
39
Impaired corticostriatal LTP and depotentiation following iPLA2 inhibition is restored following acute application of DHA. 25
25562715 2015
40
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. 25
25164370 2015
41
PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review. 25
26196026 2015
42
Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation. 25
30363890 2014
43
Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia. 25
24182522 2014
44
Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). 25
21520282 2011
45
Rare causes of dystonia parkinsonism. 25
20694531 2010
46
Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice. 25
20686114 2010
47
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. 25
20669327 2010
48
Mutations in PLA2G6 and the riddle of Schindler disease. 25
17209134 2007
49
Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells. 25
15993747 2005
50
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. 25
12843330 2003

Variations for Neurodegeneration with Brain Iron Accumulation 2a

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

6 (show top 50) (show all 216)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867
2 PLA2G6 NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) SNV Pathogenic 6197 rs121908682 22:38528986-38528986 22:38132979-38132979
3 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) Deletion Pathogenic 6198 rs587784343 22:38509624-38509626 22:38113617-38113619
4 PLA2G6 NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) Deletion Pathogenic 6201 rs587784353 22:38508218-38508219 22:38112211-38112212
5 PLA2G6 NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) Deletion Pathogenic 6201 rs587784353 22:38508218-38508219 22:38112211-38112212
6 PLA2G6 NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) SNV Pathogenic 6202 rs121908685 22:38541632-38541632 22:38145625-38145625
7 PLA2G6 NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) SNV Pathogenic 30370 rs200075782 22:38565325-38565325 22:38169318-38169318
8 PLA2G6 NC_000022.11:g.(?_38132114)_(38135084_?)del Deletion Pathogenic 832743 22:38528121-38531091
9 LOC112695092 NM_003560.4(PLA2G6):c.0_-46+1931delinsCGATCTC Indel Pathogenic 584440 22:38575740-38578170 22:38179733-38182163
10 PLA2G6 NC_000022.11:g.(38134406_38134454)_(38141038_38141086)del Deletion Pathogenic 30369 22:38530413-38537093 22:38134406-38141086
11 PLA2G6 NC_000022.11:g.(?_38169198)_(38169446_?)del Deletion Pathogenic 583663 22:38565205-38565453 22:38169198-38169446
12 PLA2G6 GRCh37/hg19 22q13.1(chr22:38565225-38565434) copy number loss Pathogenic 916003 22:38565225-38565434
13 PLA2G6 NM_003560.4(PLA2G6):c.1349-2A>G SNV Pathogenic 211909 rs797045888 22:38522458-38522458 22:38126451-38126451
14 PLA2G6 NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) SNV Pathogenic 159728 rs587784327 22:38525530-38525530 22:38129523-38129523
15 PLA2G6 Deletion Pathogenic 374373 22:38565225-38565478
16 PLA2G6 NM_003560.4(PLA2G6):c.1743-1G>C SNV Pathogenic 437466 rs1555979401 22:38512219-38512219 22:38116212-38116212
17 PLA2G6 NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile) SNV Pathogenic 429031 rs764959600 22:38565431-38565431 22:38169424-38169424
18 PLA2G6 NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) SNV Pathogenic 159749 rs587784339 22:38511665-38511665 22:38115658-38115658
19 PLA2G6 NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) Duplication Pathogenic 523033 rs1555988204 22:38519144-38519145 22:38123137-38123138
20 PLA2G6 NM_003560.4(PLA2G6):c.1592-2A>C SNV Pathogenic 561085 rs1465629909 22:38516918-38516918 22:38120911-38120911
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.1931del (p.Phe644fs) Deletion Pathogenic 570347 rs1569243565 22:38511637-38511637 22:38115630-38115630
23 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) Deletion Pathogenic 6198 rs587784343 22:38509624-38509626 22:38113617-38113619
24 PLA2G6 NM_003560.4(PLA2G6):c.1880-9del Deletion Pathogenic 623393 rs1569243771 22:38511697-38511697 22:38115690-38115690
25 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic 6195 rs121908680 22:38508219-38508219 22:38112212-38112212
26 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic 6195 rs121908680 22:38508219-38508219 22:38112212-38112212
27 PLA2G6 NM_003560.4(PLA2G6):c.1262del (p.Val421fs) Deletion Pathogenic 652932 rs1282370486 22:38524362-38524362 22:38128355-38128355
28 PLA2G6 NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) SNV Pathogenic 6203 rs121908686 22:38508565-38508565 22:38112558-38112558
29 PLA2G6 NM_003560.4(PLA2G6):c.2035-2A>G SNV Pathogenic 692050 rs1602057157 22:38509663-38509663 22:38113656-38113656
30 PLA2G6 NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) SNV Pathogenic 265448 rs530348521 22:38508566-38508566 22:38112559-38112559
31 PLA2G6 NM_003560.4(PLA2G6):c.2276+1G>A SNV Pathogenic 803689 rs1397030516 22:38508510-38508510 22:38112503-38112503
32 PLA2G6 NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) SNV Pathogenic 803691 rs776713955 22:38512189-38512189 22:38116182-38116182
33 PLA2G6 NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) SNV Pathogenic 803694 rs1177564212 22:38565270-38565270 22:38169263-38169263
34 PLA2G6 NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) SNV Pathogenic 159731 rs587784330 22:38519251-38519251 22:38123244-38123244
35 PLA2G6 NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) SNV Pathogenic 159784 rs587784363 22:38528929-38528929 22:38132922-38132922
36 PLA2G6 NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) SNV Pathogenic 846843 22:38528854-38528854 22:38132847-38132847
37 PLA2G6 NM_003560.4(PLA2G6):c.1880-1G>C SNV Pathogenic 813442 rs1025497590 22:38511689-38511689 22:38115682-38115682
38 PLA2G6 NM_003560.4(PLA2G6):c.1187-1G>A SNV Pathogenic 813443 rs1477656610 22:38524438-38524438 22:38128431-38128431
39 PLA2G6 NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) SNV Pathogenic 265449 rs886039552 22:38565226-38565226 22:38169219-38169219
40 PLA2G6 NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) SNV Pathogenic 6203 rs121908686 22:38508565-38508565 22:38112558-38112558
41 PLA2G6 NM_003560.4(PLA2G6):c.319del (p.Leu107fs) Deletion Pathogenic 984695 22:38541551-38541551 22:38145544-38145544
42 PLA2G6 NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) SNV Pathogenic/Likely pathogenic 159748 rs149712244 22:38512162-38512162 22:38116155-38116155
43 PLA2G6 NM_003560.4(PLA2G6):c.1427+1G>A SNV Pathogenic/Likely pathogenic 437465 rs750939090 22:38522377-38522377 22:38126370-38126370
44 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic/Likely pathogenic 6195 rs121908680 22:38508219-38508219 22:38112212-38112212
45 PLA2G6 NM_003560.4(PLA2G6):c.1351del (p.Leu451fs) Deletion Likely pathogenic 159730 rs587784329 22:38522454-38522454 22:38126447-38126447
46 PLA2G6 NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) Duplication Likely pathogenic 211911 rs797045889 22:38528967-38528968 22:38132960-38132961
47 PLA2G6 NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) SNV Likely pathogenic 436319 rs1555978219 22:38511592-38511592 22:38115585-38115585
48 PLA2G6 NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) SNV Likely pathogenic 529507 rs1235695530 22:38519258-38519258 22:38123251-38123251
49 PLA2G6 NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) SNV Likely pathogenic 522674 rs1556010444 22:38531055-38531055 22:38135048-38135048
50 PLA2G6 NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) SNV Likely pathogenic 436320 rs1555988382 22:38519187-38519187 22:38123180-38123180

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

Expression for Neurodegeneration with Brain Iron Accumulation 2a

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

Pathways for Neurodegeneration with Brain Iron Accumulation 2a

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

# Super pathways Score Top Affiliating Genes
1 11.95 TOMM20 PNPLA2 PANK1 CP
2 11.89 TOMM20 RPS27A FBXO7 ATP13A2 APP
3 10.64 PNPLA8 PLA2G6
4 10.12 PANK2 PANK1 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.17 TOMM20 PNPLA8 PLA2G6 PANK2 FBXO7 COASY

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.71 RPS27A PNPLA2 CP APP
2 lipid catabolic process GO:0016042 9.63 PNPLA8 PNPLA2 PLA2G6
3 post-translational protein modification GO:0043687 9.55 PNPLA2 FBXO7 DCAF17 CP APP
4 cellular iron ion homeostasis GO:0006879 9.5 FTL CP ATP13A2
5 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.49 PNPLA8 PLA2G6
6 iron ion transport GO:0006826 9.48 FTL CP
7 phosphatidylcholine catabolic process GO:0034638 9.43 PNPLA8 PLA2G6
8 lipid homeostasis GO:0055088 9.43 PNPLA8 PNPLA2 ATP13A2
9 cellular response to manganese ion GO:0071287 9.37 ATP13A2 APP
10 phosphatidylethanolamine catabolic process GO:0046338 8.96 PNPLA8 PLA2G6
11 coenzyme A biosynthetic process GO:0015937 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 9.32 WDR45 ATP13A2
2 lysophospholipase activity GO:0004622 9.26 PNPLA8 PLA2G6
3 phosphatidyl phospholipase B activity GO:0102545 9.16 PNPLA8 PLA2G6
4 calcium-independent phospholipase A2 activity GO:0047499 8.96 PNPLA8 PLA2G6
5 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Neurodegeneration with Brain Iron Accumulation 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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