NBIA2A
MCID: NRD033
MIFTS: 69

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 72 15
Infantile Neuroaxonal Dystrophy 20 43 53 58 72 29 6 70
Seitelberger Disease 57 12 20 43 53 58 72
Infantile Neuroaxonal Dystrophy 1 57 12 72 29 13
Plan 57 25 20 58 72
Inad 57 20 43 58 72
Pla2g6-Associated Neurodegeneration 25 58 29 6
Inad1 12 20 58 72
Neuroaxonal Dystrophy, Infantile 57 20 54
Nbia2a 57 12 72
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 70
Neuroaxonal Dystrophy, Infantile; Inad; Inad1 57
Neurodegeneration, Pla2g6-Associated; Plan 57
Neurodegeneration Pla2g6-Associated 72
Dystrophy, Neuroaxonal, Infantile 39
Neuroaxonal Dystrophy, Atypical 20
Pla2g6-Related Disorders 25
Karak Syndrome, Included 20
Neuroaxonal Dystrophies 70
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 20-May-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 dementia, lewy body and spastic paraplegia 35, autosomal recessive, 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 Biosynthesis of cofactors and Eicosanoid Synthesis. The drugs Mesna 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 20-May-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. Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. 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 : 72 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 1006)
# Related Disease Score Top Affiliating Genes
1 dementia, lewy body 30.7 RPS27A PLA2G6 ATP13A2 APP
2 spastic paraplegia 35, autosomal recessive 30.6 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
3 hereditary spastic paraplegia 30.3 PLA2G6 FA2H C19orf12 ATP13A2
4 alcohol-related neurodevelopmental disorder 30.1 WDR45 C19orf12
5 early-onset parkinson's disease 29.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
6 iron metabolism disease 29.4 PANK2 FTL CP
7 disease of mental health 29.1 WDR45 PLA2G6 PANK2 CP C19orf12 ATP13A2
8 parkinson disease, late-onset 28.5 RPS27A PLA2G6 CP ATP13A2 APP
9 dystonia 27.8 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
10 movement disease 27.6 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
11 neuroaxonal dystrophy 27.5 WDR45 PNPLA8 PNPLA2 PLA2G6 PANK2 PANK1
12 neurodegeneration with brain iron accumulation 2b 27.5 PNPLA8 PNPLA2 PLA2G6 PANK2 PANK1 FTL
13 neurodegeneration with brain iron accumulation 27.2 WDR45 PNPLA2 PLA2G6 PANK2 PANK1 FTL
14 neurodegeneration with brain iron accumulation 1 27.0 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
15 osteopetrosis and infantile neuroaxonal dystrophy 11.4
16 csf1r-related brain malformation and osteopetrosis 11.2
17 lupus erythematosus 11.1
18 stuttering 11.1
19 chronic fatigue syndrome 11.0
20 prediabetes syndrome 11.0
21 dementia 11.0
22 pulmonary disease, chronic obstructive 10.9
23 alcohol use disorder 10.9
24 diabetes mellitus 10.9
25 cerebral palsy 10.9
26 hypoglycemia 10.9
27 hypertension, essential 10.9
28 typhoid fever 10.9
29 kidney disease 10.9
30 fibromyalgia 10.9
31 beta-thalassemia 10.8
32 fetal alcohol spectrum disorder 10.8
33 leukoencephalopathy, hereditary diffuse, with spheroids 10.8
34 hyperoxaluria, primary, type i 10.8
35 smith-lemli-opitz syndrome 10.8
36 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.8
37 aplastic anemia 10.8
38 pitt-hopkins syndrome 10.8
39 spinocerebellar ataxia 36 10.8
40 ceroid lipofuscinosis, neuronal, 11 10.8
41 fragile x-associated tremor/ataxia syndrome 10.8
42 foxp2-related speech and language disorders 10.8
43 tango2-related metabolic encephalopathy and arrhythmias 10.8
44 acquired pure red cell aplasia 10.8
45 developmental dyspraxia 10.8
46 asthma 10.5
47 human immunodeficiency virus type 1 10.5
48 poliomyelitis 10.4
49 stroke, ischemic 10.3
50 cervical cancer 10.3

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 20-May-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 20-May-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 9.9 APP ATP13A2 COASY CP FA2H FTL
2 cellular MP:0005384 9.7 APP ATP13A2 COASY CP DCAF17 PANK1
3 homeostasis/metabolism MP:0005376 9.44 APP ATP13A2 COASY CP FA2H FTL

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 967)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mesna Approved, Investigational Phase 4 3375-50-6 598
2
Esketamine Approved, Investigational Phase 4 33643-46-8
3
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
4
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
5
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
6
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
7
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
8
Streptokinase Approved, Investigational Phase 4 9002-01-1
9
Glucagon Approved Phase 4 16941-32-5
10
Coal tar Approved Phase 4 8007-45-2
11
Losartan Approved Phase 4 114798-26-4 3961
12
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
13
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
14
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
15
Insulin aspart Approved Phase 4 116094-23-6 16132418
16
Insulin lispro Approved Phase 4 133107-64-9
17
Insulin glargine Approved Phase 4 160337-95-1
18
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
19
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
20
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
21
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
22
Mycophenolic acid Approved Phase 4 24280-93-1 446541
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
Ezetimibe Approved Phase 4 163222-33-1 150311
28
Alprazolam Approved, Illicit, Investigational Phase 4 28981-97-7 2118
29
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
30
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
31
Sodium citrate Approved, Investigational Phase 4 68-04-2
32 Artichoke Approved Phase 4
33
Bevacizumab Approved, Investigational Phase 4 216974-75-3
34
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
35
Mebendazole Approved, Vet_approved Phase 4 31431-39-7 4030
36
Piperazine Approved, Vet_approved Phase 4 110-85-0 4837
37
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
38
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
39
Baclofen Approved Phase 4 1134-47-0 2284
40
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
41
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
42
Zoledronic Acid Approved Phase 4 118072-93-8 68740
43
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
44
Clozapine Approved Phase 4 5786-21-0 2818
45
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
46
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
47
Memantine Approved, Investigational Phase 4 19982-08-2 4054
48
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
49
Empagliflozin Approved Phase 4 864070-44-0
50
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2, 11096-26-7

Interventional clinical trials:

(show top 50) (show all 5101)
# Name Status NCT ID Phase Drugs
1 Clinical, Microbiological and Biochemical Effects of the Antimicrobial Photodynamic Therapy Unknown status NCT01532674 Phase 4
2 Optimal Multimodal Analgesia in Abdominal Hysterectomy Unknown status NCT00209872 Phase 4 Gabapentin;Lidocaine;S-ketamine
3 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
4 Study of Optimal Treatment Plan in Hypertensives With Anti-AT1-Receptor Autoantibody Unknown status NCT00360763 Phase 4 candesartan cilexetil
5 Cooperative Investigation Plan for Home Treatment of Pulmonary Embolism Unknown status NCT00214929 Phase 4
6 Effect of Dapagliflozin on Nighttime Blood Pressure in Type 2 Diabetes Unknown status NCT03887416 Phase 4 Dapagliflozin 10 MG Oral Tablet [Farxiga];Placebo Oral Tablet
7 Prospective Multicenter Study of the Role of Positron Emission Mammography (PEM) in Pre-Surgical Planning for Breast Cancer Unknown status NCT00484614 Phase 4
8 Pre-hYpertension tReament With A coMbinatIon of Dietary Supplements and Life-style Modifications Unknown status NCT01682291 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 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
12 A Cognitive Behavioral Therapy Group Intervention for Adolescents With Attention-Deficit / Hyperactivity Disorder Unknown status NCT02566824 Phase 4 Methylphenidate or amphetamine product
13 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
14 Regional Tolvaptan Registry Unknown status NCT02666651 Phase 4 Tolvaptan
15 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
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 Evaluating Different Modalities for Pleural Adhesiolysis at Assuit University Hospital Unknown status NCT03172052 Phase 4 streptokinase;MESNA (2-mercaptoethane sulfonate Na)
18 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
19 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
20 Rectal Indomethacin Use in Pain Relief During Intrauterine Device Insertion: A Randomized Controlled Trial Completed NCT02711358 Phase 4 indomethacin suppositories;placebo
21 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)
22 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
23 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
24 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
25 Efficacy of Aerobic Exercise Added to Alprazolam in Panic Disorder Treatment: a Clinical Randomized Trial Completed NCT00803400 Phase 4 Alprazolam;Alprazolam + Aerobic exercise
26 Effect of Lactobacillus Reuteri DSM 17938 to Prevent Antibiotic-associated Diarrhea in Children: Prospective, Multi-center, Randomize, Parallel Group Placebo Controlled Clinical Trial Completed NCT02765217 Phase 4 Lactobacillus reuteri DSM 17938;Placebo;Amoxicillin-Clavulanic Acid
27 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
28 Botulinum Toxin A for the Treatment of Cervical/Shoulder Pain Following Acute Spinal Cord Injury. Completed NCT00320281 Phase 4 botulinum toxin A
29 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
30 Plication of the Rectus Abdominis in Two Planes and in One Continuous Suture Plan Completed NCT02674035 Phase 4
31 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
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 Increasing CRC Screening in Health Plan Members Completed NCT00134589 Phase 4
34 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
35 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)
36 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
37 The Effect of Supplemental Oxygen During Physical Exercise Training on Exercise Capacity in COPD Patients. Completed NCT01150383 Phase 4
38 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
39 d68Ga-DOTATATE PET/CT Assessment of Cardiac Sarcoidosis Completed NCT03549598 Phase 4 68Ga-DOTATATE PET/CT;18FDG PET/CT scan;13NH3 PET/CT scan
40 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
41 Comparison of Great Occipital Nerve and Supraorbital Nerve Blockade Treatment Methods Individually and in Combination With Placebo in an Acute Migraine Attack in the Emergency Department, a Prospective, Double Blind, Randomized Controlled Study Completed NCT04491474 Phase 4 Lidocaine Hydrochloride;Placebo
42 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
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 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
45 Planned Transition To Sirolimus-Based Therapy Versus Continued Tacrolimus-Based Therapy In Renal Allograft Recipients Completed NCT00895583 Phase 4 Tacrolimus;Sirolimus;Tacrolimus
46 Depo Provera Self-Administration Study: Putting a Patient-Centered Practice to the Test at Planned Parenthood Completed NCT02509767 Phase 4 Subcutaneous depot medroxyprogesterone acetate
47 Comparison of a Patient Controlled Oral Administration (PCOA) of Analgesic Protocol With an IV Administration After Planned Caesarian Section : Monocentric, Randomised and Controlled Study Completed NCT01566253 Phase 4 Acetaminophen, ketoprofen, morphine;Acetaminophen, ketoprofen,morphine
48 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
49 The Response of Periodontal Pathogens to the Respective or Combined Treatment of Scaling and Root Planning and Locally Delivered Minocycline in Patients With Chronic Periodontitis- a Short-term Randomized Clinical Trial Completed NCT02355977 Phase 4 minocycline
50 A Long-term, Randomized Study to Evaluate the Effects of Empagliflozin in Combination With Standard Hypoglycemic Therapy on Early and Long-term Results of Planned Percutaneous Coronary Interventions in Patients With Type 2 Diabetes. Completed NCT04497792 Phase 4 Empagliflozin 10Mg Tab;hypoglycemic therapy

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, Eye, Lung

Publications for Neurodegeneration with Brain Iron Accumulation 2a

Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 267)
# 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 25 57 6
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 6 25 61
16783378 2006
4
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). 57 6 61
18443314 2008
5
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. 57 6 61
17033970 2006
6
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. 6 25 61
27516098 2016
7
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 61 6 25
24745848 2014
8
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 6 61 25
20619503 2012
9
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 61 6 25
20886109 2010
10
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. 25 6 61
19138334 2009
11
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 61 6 25
18570303 2009
12
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. 25 57 61
10379598 1999
13
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. 57 61 25
10227637 1999
14
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. 6 25
25164370 2015
15
PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review. 25 6
26196026 2015
16
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. 6 25
20669327 2010
17
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. 6 61
30619057 2018
18
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families. 6 61
27268037 2016
19
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. 6 61
26668131 2016
20
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. 61 6
27196560 2016
21
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration. 6 61
22934738 2013
22
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. 61 6
19893029 2009
23
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 61 57
18981035 2009
24
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? 6 61
18359254 2008
25
PLA2G6-Associated Neurodegeneration 61 6
20301718 2008
26
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. 57 61
18202189 2008
27
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. 57 61
15365152 2004
28
Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. 61 57
1659791 1991
29
Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. 57 61
3314508 1987
30
Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. 57 61
3683759 1987
31
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. 57 61
2986047 1985
32
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 61 57
7158329 1982
33
Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. 61 57
7103414 1982
34
Infantile neuroaxonal dystrophy. 57 61
509195 1979
35
Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. 61 57
103487 1978
36
Infantile neuroaxonal dystrophy. 57 61
5829994 1965
37
INFANTILE NEUROAXONAL DYSTROPHY. 61 57
14237772 1965
38
Infantile neuroaxonal dystrophy. 57 61
14023529 1963
39
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
40
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. 6
30340910 2019
41
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. 6
29915382 2019
42
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 57
29395073 2018
43
The structure of iPLA2β reveals dimeric active sites and suggests mechanisms of regulation and localization. 6
29472584 2018
44
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature. 6
29124790 2017
45
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports. 6
28821231 2017
46
PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology. 6
27709683 2016
47
Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration. 6
27378808 2016
48
A case of infantile neuroaxonal dystrophy of neonatal onset. 61 25
24870368 2015
49
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
50
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014

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 232)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLA2G6 NM_003560.4(PLA2G6):c.1349-2A>G SNV Pathogenic 211909 rs797045888 GRCh37: 22:38522458-38522458
GRCh38: 22:38126451-38126451
2 PLA2G6 NM_003560.4(PLA2G6):c.1880-9del Deletion Pathogenic 623393 rs1569243771 GRCh37: 22:38511697-38511697
GRCh38: 22:38115690-38115690
3 PLA2G6 NM_003560.4(PLA2G6):c.319del (p.Leu107fs) Deletion Pathogenic 984695 GRCh37: 22:38541551-38541551
GRCh38: 22:38145544-38145544
4 PLA2G6 NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) SNV Pathogenic 159731 rs587784330 GRCh37: 22:38519251-38519251
GRCh38: 22:38123244-38123244
5 PLA2G6 NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) SNV Pathogenic 1028628 GRCh37: 22:38511635-38511635
GRCh38: 22:38115628-38115628
6 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 GRCh37: 22:38516874-38516874
GRCh38: 22:38120867-38120867
7 PLA2G6 NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) SNV Pathogenic 6197 rs121908682 GRCh37: 22:38528986-38528986
GRCh38: 22:38132979-38132979
8 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) Deletion Pathogenic 6198 rs587784343 GRCh37: 22:38509624-38509626
GRCh38: 22:38113617-38113619
9 PLA2G6 NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) Deletion Pathogenic 6201 rs587784353 GRCh37: 22:38508218-38508219
GRCh38: 22:38112211-38112212
10 PLA2G6 NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) Deletion Pathogenic 6201 rs587784353 GRCh37: 22:38508218-38508219
GRCh38: 22:38112211-38112212
11 PLA2G6 NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) SNV Pathogenic 6202 rs121908685 GRCh37: 22:38541632-38541632
GRCh38: 22:38145625-38145625
12 PLA2G6 NC_000022.11:g.(38134406_38134454)_(38141038_38141086)del Deletion Pathogenic 30369 GRCh37: 22:38530413-38537093
GRCh38: 22:38134406-38141086
13 PLA2G6 NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) SNV Pathogenic 30370 rs200075782 GRCh37: 22:38565325-38565325
GRCh38: 22:38169318-38169318
14 PLA2G6 NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) SNV Pathogenic 159728 rs587784327 GRCh37: 22:38525530-38525530
GRCh38: 22:38129523-38129523
15 PLA2G6 NM_003560.4(PLA2G6):c.1743-1G>C SNV Pathogenic 437466 rs1555979401 GRCh37: 22:38512219-38512219
GRCh38: 22:38116212-38116212
16 PLA2G6 Deletion Pathogenic 374373 GRCh37: 22:38565225-38565478
GRCh38:
17 PLA2G6 NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile) SNV Pathogenic 429031 rs764959600 GRCh37: 22:38565431-38565431
GRCh38: 22:38169424-38169424
18 PLA2G6 NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) SNV Pathogenic 159749 rs587784339 GRCh37: 22:38511665-38511665
GRCh38: 22:38115658-38115658
19 PLA2G6 NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) Duplication Pathogenic 523033 rs1555988204 GRCh37: 22:38519144-38519145
GRCh38: 22:38123137-38123138
20 PLA2G6 NM_003560.4(PLA2G6):c.1592-2A>C SNV Pathogenic 561085 rs1465629909 GRCh37: 22:38516918-38516918
GRCh38: 22:38120911-38120911
21 PLA2G6 NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) SNV Pathogenic 159749 rs587784339 GRCh37: 22:38511665-38511665
GRCh38: 22:38115658-38115658
22 PLA2G6 NC_000022.11:g.(?_38169198)_(38169446_?)del Deletion Pathogenic 583663 GRCh37: 22:38565205-38565453
GRCh38: 22:38169198-38169446
23 overlap with 2 genes NM_003560.4(PLA2G6):c.0_-46+1931delinsCGATCTC Indel Pathogenic 584440 GRCh37: 22:38575740-38578170
GRCh38: 22:38179733-38182163
24 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) Deletion Pathogenic 6198 rs587784343 GRCh37: 22:38509624-38509626
GRCh38: 22:38113617-38113619
25 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic 6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
26 PLA2G6 NM_003560.4(PLA2G6):c.1931del (p.Phe644fs) Deletion Pathogenic 570347 rs1569243565 GRCh37: 22:38511637-38511637
GRCh38: 22:38115630-38115630
27 PLA2G6 NM_003560.4(PLA2G6):c.1262del (p.Val421fs) Deletion Pathogenic 652932 rs1282370486 GRCh37: 22:38524362-38524362
GRCh38: 22:38128355-38128355
28 PLA2G6 NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) SNV Pathogenic 6203 rs121908686 GRCh37: 22:38508565-38508565
GRCh38: 22:38112558-38112558
29 PLA2G6 NM_003560.4(PLA2G6):c.2035-2A>G SNV Pathogenic 692050 rs1602057157 GRCh37: 22:38509663-38509663
GRCh38: 22:38113656-38113656
30 PLA2G6 NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) SNV Pathogenic 265448 rs530348521 GRCh37: 22:38508566-38508566
GRCh38: 22:38112559-38112559
31 PLA2G6 NM_003560.4(PLA2G6):c.2276+1G>A SNV Pathogenic 803689 rs1397030516 GRCh37: 22:38508510-38508510
GRCh38: 22:38112503-38112503
32 PLA2G6 NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) SNV Pathogenic 803691 rs776713955 GRCh37: 22:38512189-38512189
GRCh38: 22:38116182-38116182
33 PLA2G6 NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) SNV Pathogenic 803694 rs1177564212 GRCh37: 22:38565270-38565270
GRCh38: 22:38169263-38169263
34 PLA2G6 NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) SNV Pathogenic 159784 rs587784363 GRCh37: 22:38528929-38528929
GRCh38: 22:38132922-38132922
35 PLA2G6 NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) SNV Pathogenic 846843 GRCh37: 22:38528854-38528854
GRCh38: 22:38132847-38132847
36 PLA2G6 NC_000022.11:g.(?_38132114)_(38135084_?)del Deletion Pathogenic 832743 GRCh37: 22:38528121-38531091
GRCh38:
37 PLA2G6 NM_003560.4(PLA2G6):c.1187-1G>A SNV Pathogenic 813443 rs1477656610 GRCh37: 22:38524438-38524438
GRCh38: 22:38128431-38128431
38 PLA2G6 NM_003560.4(PLA2G6):c.1880-1G>C SNV Pathogenic 813442 rs1025497590 GRCh37: 22:38511689-38511689
GRCh38: 22:38115682-38115682
39 PLA2G6 NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) SNV Pathogenic 265449 rs886039552 GRCh37: 22:38565226-38565226
GRCh38: 22:38169219-38169219
40 PLA2G6 GRCh37/hg19 22q13.1(chr22:38565225-38565434) copy number loss Pathogenic 916003 GRCh37: 22:38565225-38565434
GRCh38:
41 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic 6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
42 PLA2G6 NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) SNV Pathogenic 6203 rs121908686 GRCh37: 22:38508565-38508565
GRCh38: 22:38112558-38112558
43 PLA2G6 NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys) SNV Pathogenic 998023 GRCh37: 22:38508233-38508233
GRCh38: 22:38112226-38112226
44 PLA2G6 NM_003560.4(PLA2G6):c.1806C>G (p.Tyr602Ter) SNV Pathogenic 1028627 GRCh37: 22:38512155-38512155
GRCh38: 22:38116148-38116148
45 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic 6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
46 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic/Likely pathogenic 6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
47 PLA2G6 NM_003560.4(PLA2G6):c.1427+1G>A SNV Pathogenic/Likely pathogenic 437465 rs750939090 GRCh37: 22:38522377-38522377
GRCh38: 22:38126370-38126370
48 PLA2G6 NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) SNV Pathogenic/Likely pathogenic 159748 rs149712244 GRCh37: 22:38512162-38512162
GRCh38: 22:38116155-38116155
49 PLA2G6 NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) SNV Likely pathogenic 436319 rs1555978219 GRCh37: 22:38511592-38511592
GRCh38: 22:38115585-38115585
50 PLA2G6 NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) SNV Likely pathogenic 159762 rs587784350 GRCh37: 22:38508554-38508554
GRCh38: 22:38112547-38112547

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

72
# 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
Show member pathways
11.55 PANK2 PANK1 COASY
2 10.34 PNPLA8 PLA2G6
3 10.12 PANK2 PANK1 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.73 PNPLA2 DCAF17 CP APP
2 autophagy GO:0006914 9.7 WDR45 C19orf12 ATP13A2
3 lipid catabolic process GO:0016042 9.63 PNPLA8 PNPLA2 PLA2G6
4 cellular protein metabolic process GO:0044267 9.62 RPS27A PNPLA2 CP APP
5 phosphatidylcholine acyl-chain remodeling GO:0036151 9.51 PNPLA8 PLA2G6
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.49 PNPLA8 PLA2G6
7 iron ion transport GO:0006826 9.48 FTL CP
8 cellular iron ion homeostasis GO:0006879 9.43 FTL CP ATP13A2
9 phosphatidylcholine catabolic process GO:0034638 9.4 PNPLA8 PLA2G6
10 cellular response to manganese ion GO:0071287 9.37 ATP13A2 APP
11 lipid homeostasis GO:0055088 9.33 PNPLA8 PNPLA2 ATP13A2
12 phosphatidylethanolamine catabolic process GO:0046338 8.96 PNPLA8 PLA2G6
13 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
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57 OMIM® (Updated 20-May-2021)
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