NBIA6
MCID: NRD016
MIFTS: 51

Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 6

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 6:

Name: Neurodegeneration with Brain Iron Accumulation 6 56 12 52 73 29 6 15 71
Nbia6 56 12 52 58 73
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation 12 52 58
Copan 12 52 58
Coasy Protein-Associated Neurodegeneration 52 58
Neurodegeneration, with Brain Iron Accumulation, Type 6 39

Characteristics:

Orphanet epidemiological data:

58
coasy protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or early childhood
three unrelated families have been reported (last curated january 2019)
gait difficulties and beginning of cognitive decline in first decade
loss of independent ambulation in the second decade


HPO:

31
neurodegeneration with brain iron accumulation 6:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 6

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397725 Definition COASY protein -associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia , dysarthria , parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. Visit the Orphanet disease page for more resources.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 6, also known as nbia6, is related to neurodegeneration with brain iron accumulation 1 and neurodegeneration with brain iron accumulation, and has symptoms including bradykinesia, oromandibular dystonia and muscle rigidity. An important gene associated with Neurodegeneration with Brain Iron Accumulation 6 is COASY (Coenzyme A Synthase), and among its related pathways/superpathways are Interferon Pathway and Pantothenate and CoA biosynthesis. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are cognitive impairment and dysarthria

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.

OMIM : 56 Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (615643)

UniProtKB/Swiss-Prot : 73 Neurodegeneration with brain iron accumulation 6: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism.

Related Diseases for Neurodegeneration with Brain Iron Accumulation 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 29.1 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
2 neurodegeneration with brain iron accumulation 28.9 WDR45 WAS PLA2G6 PANK2 PANK1 FA2H
3 oromandibular dystonia 10.3 PLA2G6 PANK2 C19orf12
4 48,xyyy 10.3
5 spastic paraplegia 43, autosomal recessive 10.2 PLA2G6 FA2H C19orf12
6 choreoacanthocytosis 10.2 PANK2 PANK1 C19orf12
7 myopathy, centronuclear, 6, with fiber-type disproportion 10.2 HUWE1 CAT
8 meester-loeys syndrome 10.1
9 alacrima, achalasia, and mental retardation syndrome 10.1
10 bone disease 10.1
11 covid-19 10.1
12 chlamydia 10.1
13 axonal neuropathy 10.1
14 herpes simplex 10.1
15 haemophilus influenzae 10.1
16 spasticity 10.1
17 overgrowth syndrome 10.1
18 parkinson disease 15, autosomal recessive early-onset 10.1 PLA2G6 PANK2 FA2H C19orf12
19 tick infestation 10.1 SLC22A18 HUWE1
20 cerebral degeneration 10.0 PLA2G6 PANK2 HUWE1 FA2H
21 alcohol-related neurodevelopmental disorder 10.0 WDR45 C19orf12
22 early-onset parkinson's disease 10.0 PLA2G6 PANK2 CAT C19orf12
23 adult brain stem glioma 10.0 H3-3B H3-3A
24 bone giant cell sarcoma 9.9 H3-3B H3-3A
25 malignant giant cell tumor 9.9 H3-3B H3-3A
26 spinal cord astrocytoma 9.9 H3-3B H3-3A
27 pneumoconiosis due to talc 9.9 H3-3B H3-3A
28 mental retardation, autosomal dominant 56 9.9 H3-3B H3-3A
29 kunjin encephalitis 9.9 HUWE1 H3-3B H3-3A
30 congenital disorder of glycosylation, type il 9.9 HUWE1 H3-3B H3-3A
31 amelogenesis imperfecta, type if 9.8 HUWE1 H3-3B H3-3A
32 amelogenesis imperfecta, type ia 9.8 HUWE1 H3-3B H3-3A
33 hypotrichosis 2 9.8 HUWE1 H3-3B H3-3A
34 clear cell chondrosarcoma 9.8 H3-3B H3-3A
35 mulibrey nanism 9.8 HUWE1 H3-3B H3-3A
36 griscelli syndrome, type 2 9.8 HUWE1 H3-3B H3-3A
37 hypotrichosis 1 9.8 HUWE1 H3-3B H3-3A
38 spinal cord glioma 9.8 H3-3B H3-3A
39 stuttering 9.8 HUWE1 H3-3B H3-3A
40 pelizaeus-merzbacher disease 9.8 HUWE1 H3-3B H3-3A
41 actinomycosis 9.6 HUWE1 H3-3B H3-3A CAT
42 spastic paraplegia 35, autosomal recessive 9.5 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
43 childhood brain stem glioma 9.5 H3-3B H3-3A
44 dystonia 9.5 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
45 neuroaxonal dystrophy 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
46 neurodegeneration with brain iron accumulation 4 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
47 neurodegeneration with brain iron accumulation 2b 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
48 kufor-rakeb syndrome 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
49 neurodegeneration with brain iron accumulation 3 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
50 neurodegeneration with brain iron accumulation 5 9.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 6:



Diseases related to Neurodegeneration with Brain Iron Accumulation 6

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 6

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 6:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 obsessive-compulsive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000722
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
6 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
7 peripheral axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003477
8 abnormality of thalamus morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010663
9 abnormal caudate nucleus morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002339
10 eye of the tiger anomaly of globus pallidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002454
11 oromandibular dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012048
12 pes cavus 31 occasional (7.5%) HP:0001761
13 global developmental delay 31 HP:0001263
14 developmental regression 31 HP:0002376
15 spastic tetraplegia 31 HP:0002510
16 depressivity 31 HP:0000716
17 toe walking 31 HP:0040083
18 mental deterioration 31 HP:0001268
19 hyporeflexia 31 HP:0001265
20 distal amyotrophy 31 HP:0003693
21 hypoplasia of the corpus callosum 31 HP:0002079
22 rigidity 31 HP:0002063
23 motor axonal neuropathy 31 HP:0007002
24 abnormal corpus striatum morphology 58 Very frequent (99-80%)
25 bradykinesia 31 HP:0002067
26 neurodegeneration 31 HP:0002180
27 abnormal globus pallidus morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spastic tetraplegia
dysarthria
dystonia
rigidity
more
Muscle Soft Tissue:
distal amyotrophy

Skeletal Feet:
pes cavus (1 patient)

Neurologic Peripheral Nervous System:
hyporeflexia
motor axonal neuropathy

Neurologic Behavioral Psychiatric Manifestations:
depression
obsessive-compulsive disorder

Clinical features from OMIM:

615643

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:


bradykinesia, oromandibular dystonia, muscle rigidity, paraparesis, spastic

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 6

Drugs for Neurodegeneration with Brain Iron Accumulation 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
4 Pharmaceutical Solutions Phase 4
5 Vasoconstrictor Agents Phase 4
6 Epinephryl borate Phase 4
7
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
8
Ethanol Approved Phase 2, Phase 3 64-17-5 702
9 Chlorhexidine gluconate Phase 2, Phase 3
10
Iodine Approved, Investigational Early Phase 1 7553-56-2 807
11
Povidone-iodine Approved Early Phase 1 25655-41-8
12 Anti-Bacterial Agents Early Phase 1
13 Dermatologic Agents Early Phase 1
14 Anti-Infective Agents, Local Early Phase 1
15 Anti-Infective Agents Early Phase 1
16 cadexomer iodine Early Phase 1
17 Vaccines
18 Disinfectants

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
2 Comparison Between the Sensibility of the Flocked Swab and the Traditional Fiber Swab for the Diagnosis of the Herpes Simplex Epithelial Keratitis Terminated NCT02045082 Phase 4
3 Human Papillomavirus DNA Testing Using Self-collected Samples for Cervical Cancer Screening: an Alternative Strategy for Unscreened Women? Completed NCT01014026 Phase 3
4 The Effect of Preheated Skin Disinfection in Relation to Room-temperature Skin Disinfection on Bacterial Colonization During Pace Device Implantation: a Randomized Controlled Non-inferiority Trial. Completed NCT02260479 Phase 2, Phase 3
5 Comparison of Nylon Flocked Swabs and Saline Aspirates for Detection Respiratory Viruses Unknown status NCT00613184
6 Patient Comfort and Antimicrobial Efficacy With Aqueous Chlorhexidine Versus Povidine-Iodine (Betadine) as Ocular Surface Disinfectant Prior to Intravitreal Injection Unknown status NCT03571100 Early Phase 1 Chlorhexidine;Povidine-Iodine
7 Comparison of Immunochromatographic Test for Rapid Detection of Group A Streptococcal Antigen With Culture in Pediatric Patients Completed NCT02494219
8 PNA FISH, PCR and Gram Staining for Detection of Bacterial Vaginosis - a Comparative Clinical Study in a Danish IVF Setting Completed NCT02042352
9 Impact of HPV Vaccine On The Prevalence Of Human Papillomavirus In Mouth And Vagina In Norway Completed NCT02934724
10 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
11 What is the Best Skin Preparation Solution for Labour Epidural Analgesia? A Randomized Prospective Trial Comparing ChloraprepTM, DuraprepTM, and Chlorhexidine 0.5% in 70% Alcohol. Completed NCT00247897 Skin antisepsis
12 Randomized Evaluation of Live Attenuated vs.Trivalent Inactivated Influenza Vaccines in Schools (RELATIVES)Pilot Study Completed NCT01995851
13 COVID-19: Healthcare Worker Bioresource: Immune Protection and Pathogenesis in SARS-CoV-2 Recruiting NCT04318314
14 Comparison of the Gut Microbiota Composition in Caucasian Hispanic and Caucasian Non-Hispanic Children With and Without Obesity Recruiting NCT03990350
15 Indwelling Device-associated Biofilms in Oncological Critically Ill Patients Active, not recruiting NCT04328818
16 Randomized Controlled Trial of Social Network Targeting to Magnify Population-Level MNCH Behavior Change in Honduras Active, not recruiting NCT02694679
17 Comparison of the Performance of 3 Sampling Methods for the Detection of SARS-CoV-2 (COVID-19) With Real-time Reverse Transcriptase PCR Not yet recruiting NCT04361448
18 European VALidation of HUman Papillomavirus Assays and Collection DEvices for HPV Testing on Self-samples and Urine Samples Not yet recruiting NCT04312737
19 The Effect of Hair Removal on Intraoperative Contamination Not yet recruiting NCT04256928
20 Acceptability and Efficacy of Self-sampling for Cervical Cancer Screening: A Pilot Study Not yet recruiting NCT03813576

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 6

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 6

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 6:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 6 29 COASY

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 6

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 6:

40
Brain, Testes, Skin, Globus Pallidus, Eye, Colon, Thalamus

Publications for Neurodegeneration with Brain Iron Accumulation 6

Articles related to Neurodegeneration with Brain Iron Accumulation 6:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 61 56 6
28489334 2017
2
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 6 56
24360804 2014
3
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
4
Syndromes of neurodegeneration with brain iron accumulation. 6
22704258 2012
5
Optimizing a real-time PCR assay for rapid detection of Candida auris in nasal and axillary/groin samples. 61
32478655 2020
6
Clinical Evaluation of the cobas SARS-CoV-2 Test and a Diagnostic Platform Switch during 48 Hours in the Midst of the COVID-19 Pandemic. 61
32277022 2020
7
Evaluation of the FecalSwab™ for Stool Specimen Storage and Molecular Detection of Enteropathogens on the BD MAX™ System. 61
32461284 2020
8
Comparison of Copan ESwab and FLOQSwab for COVID-19 Diagnosis: Working around a Supply Shortage. 61
32295895 2020
9
Comparison of the Copan WASPLab incorporating the BioRad expert system against the SIRscan 2000 automatic for routine antimicrobial disc diffusion susceptibility testing. 61
31733376 2020
10
Evaluation of Copan FecalSwab™ preserved stool specimens with the BD MAX™ Enteric Bacterial Panel and the BD MAX™ Extended Enteric Bacterial Panel. 61
32470844 2020
11
High carriage rates of extended-spectrum beta-lactamase-producing enterobacteriaceae in children at admission into paediatric wards of a university teaching hospital in Lagos, Nigeria. 61
32295946 2020
12
Respiratory viruses in the patient environment. 61
32043434 2020
13
Evaluation of the WASPLab Segregation Software To Automatically Analyze Urine Cultures Using Routine Blood and MacConkey Agars. 61
31941690 2020
14
Copan microFLOQ® Direct Swab collection of bloodstains, saliva, and semen on cotton cloth. 61
31165261 2020
15
Comparison of MycoPrep and the new MYCO-TB kit: rapid and efficient digestion and decontamination of respiratory specimens for the detection of Mycobacteria. 61
32334488 2020
16
Respiratory viruses on personal protective equipment and bodies of healthcare workers. 61
31668149 2019
17
CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases. 61
31701655 2019
18
Recovery of Nontuberculous Mycobacteria and Nocardiae Causing Skin/Soft Tissue Infections by Use of the Copan ESwab Collection and Transport System. 61
31619527 2019
19
Development of a scale for measuring collaboration between physicians and nurses in primary health-care teams. 61
30999774 2019
20
Copan WASPLab automation significantly reduces incubation times and allows earlier culture readings. 61
30986560 2019
21
Touch DNA collection - Performance of four different swabs. 61
31525724 2019
22
Automated Detection of Streptococcus pyogenes Pharyngitis by Use of Colorex Strep A CHROMagar and WASPLab Artificial Intelligence Chromogenic Detection Module Software. 61
31434725 2019
23
Rectal screening for carbapenemase-producing Enterobacteriaceae: a proposed workflow. 61
31639545 2019
24
Advantages of Chromosome X-STRs Markers in Solving a Father-Daughter Paternity Case with one Mismatch on SE33 Locus. 61
31532110 2019
25
Total Laboratory Automation: What Is Gained, What Is Lost, and Who Can Afford It? 61
31383263 2019
26
Prevalence of microbial contamination in donor corneas. 61
31572655 2019
27
Evaluating the preservation and isolation of stool pathogens using the COPAN FecalSwab™ Transport System and Walk-Away Specimen Processor. 61
30611563 2019
28
Simulating X-ray Absorption Spectra with Linear-Response Density Cumulant Theory. 61
30742431 2019
29
Prospective evaluation of three rapid molecular tests for seasonal influenza in patients presenting at an emergency unit. 61
30639844 2019
30
Comparison of the Superpolymyxin and ChromID Colistin R Screening Media for the Detection of Colistin-Resistant Enterobacteriaceae from Spiked Rectal Swabs. 61
30323032 2019
31
Evaluation of Methods for the Extraction of Microbial DNA From Vaginal Swabs Used for Microbiome Studies. 61
31245304 2019
32
Inborn errors of coenzyme A metabolism and neurodegeneration. 61
30740736 2019
33
Automated Incubation and Digital Image Analysis of Chromogenic Media Using Copan WASPLab Enables Rapid Detection of Vancomycin-Resistant Enterococcus. 61
31781516 2019
34
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 61
30089828 2018
35
Are bacterial culture quantifications reliable? Comparative performance of the WASP automated inoculation instrument in the era of ISO 15189 accreditation. 61
30307844 2018
36
Comparison of clinical performance of commercial urine growth stabilization products. 61
29941365 2018
37
How small modifications in laboratory workflow of blood cultures can have a significant impact on time to results. 61
29961166 2018
38
A Single Step Mutation at D3S1358 Locus in a DNA Paternity Testing with 2 Alleged Fathers. 61
30274029 2018
39
Evaluation of the Copan Myco-TB kit for the decontamination of respiratory samples for the detection of Mycobacteria. 61
29247404 2018
40
Evaluation of the Copan ESwab Transport System for Viability of Pathogenic Fungi by Use of a Modification of Clinical and Laboratory Standards Institute Document M40-A2. 61
29167289 2018
41
Streptococcus pneumoniae Serotype Epidemiology among PCV-10 Vaccinated and Unvaccinated Children at Gertrude's Children's Hospital, Nairobi County: A Cross-Sectional Study. 61
30800286 2018
42
Extensive evaluation of fastidious anaerobic bacteria recovery from the Copan eSwab® transport system. 61
29146304 2018
43
Jaguar and puma captivity and trade among the Maya: Stable isotope data from Copan, Honduras. 61
30208053 2018
44
UriSwab: an effective transport medium for nucleic acid detection of Chlamydia trachomatis, Mycoplasma genitalium and Neisseria gonorrhoeae. 61
28697843 2017
45
[Detection of influenza virus infections by molecular and immunofluorescence methods]. 61
29153067 2017
46
Evaluation of Copan FecalSwab as Specimen Type for Use in Xpert C. difficile Assay. 61
28794179 2017
47
Colonisation with extended-spectrum beta-lactamase (ESBL) not detected in a prevalence study. 61
27761798 2017
48
A likely cranial osteodystrophy (Paget's disease of bone) in a Precolumbian, Mesoamerican stone sculpture. 61
28255822 2017
49
Prospective microbiologic evaluation of the forceps elevator in closed-channel duodenoscopes after reprocessing. 61
28341284 2017
50
Evaluation of Antibiotic Residues in Pasteurized and Raw Milk Distributed in the South of Khorasan-e Razavi Province, Iran. 61
28208877 2016

Variations for Neurodegeneration with Brain Iron Accumulation 6

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COASY NM_025233.7(COASY):c.641C>T (p.Ala214Val)SNV Pathogenic 599340 rs1567904066 17:40715281-40715281 17:42563263-42563263
2 COASY NC_000017.11:g.(?_42562392)_(42565988_?)deldeletion Pathogenic 832522 17:40714410-40718006
3 COASY NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)SNV Pathogenic 100662 rs140709867 17:40717686-40717686 17:42565668-42565668
4 COASY NM_025233.7(COASY):c.175C>T (p.Gln59Ter)SNV Pathogenic 100663 rs587777136 17:40714815-40714815 17:42562797-42562797
5 COASY NM_025233.7(COASY):c.701-2A>CSNV Likely pathogenic 690396 17:40715977-40715977 17:42563959-42563959
6 COASY NM_025233.7(COASY):c.1395_1396TG[6] (p.Ile469Ter)short repeat Conflicting interpretations of pathogenicity 421057 rs560987504 17:40717494-40717495 17:42565476-42565477
7 COASY NM_025233.7(COASY):c.-1C>TSNV Uncertain significance 441109 rs147852474 17:40714640-40714640 17:42562622-42562622
8 COASY NM_025233.7(COASY):c.1393C>T (p.Arg465Cys)SNV Uncertain significance 474859 rs146857074 17:40717494-40717494 17:42565476-42565476
9 COASY NM_025233.7(COASY):c.*2_*3del (p.Ter565=)deletion Uncertain significance 541699 rs1555625395 17:40717986-40717987 17:42565968-42565969
10 COASY NM_025233.7(COASY):c.932C>T (p.Ala311Val)SNV Uncertain significance 581198 rs201949834 17:40716480-40716480 17:42564462-42564462
11 COASY NM_025233.7(COASY):c.113A>G (p.Tyr38Cys)SNV Uncertain significance 646524 17:40714753-40714753 17:42562735-42562735
12 COASY NM_025233.7(COASY):c.161A>C (p.Gln54Pro)SNV Uncertain significance 647871 17:40714801-40714801 17:42562783-42562783
13 COASY NM_025233.7(COASY):c.876T>A (p.Tyr292Ter)SNV Uncertain significance 664943 17:40716154-40716154 17:42564136-42564136
14 COASY NM_025233.7(COASY):c.1183G>A (p.Ala395Thr)SNV Uncertain significance 649844 17:40716862-40716862 17:42564844-42564844
15 COASY NM_025233.7(COASY):c.1285C>T (p.Arg429Trp)SNV Uncertain significance 652590 17:40717048-40717048 17:42565030-42565030
16 COASY NM_025233.7(COASY):c.1561G>A (p.Gly521Arg)SNV Uncertain significance 648812 17:40717752-40717752 17:42565734-42565734
17 COASY NM_025233.7(COASY):c.1632+3T>GSNV Uncertain significance 639078 17:40717826-40717826 17:42565808-42565808
18 COASY NM_025233.7(COASY):c.1064C>T (p.Pro355Leu)SNV Uncertain significance 690397 17:40716743-40716743 17:42564725-42564725
19 COASY NM_025233.7(COASY):c.557A>G (p.Gln186Arg)SNV Uncertain significance 842604 17:40715197-40715197 17:42563179-42563179
20 COASY NM_025233.7(COASY):c.1040C>T (p.Pro347Leu)SNV Uncertain significance 855594 17:40716588-40716588 17:42564570-42564570
21 COASY NM_025233.7(COASY):c.1147G>A (p.Ala383Thr)SNV Uncertain significance 846528 17:40716826-40716826 17:42564808-42564808
22 COASY NM_025233.7(COASY):c.1520G>C (p.Ser507Thr)SNV Uncertain significance 855311 17:40717711-40717711 17:42565693-42565693
23 COASY NM_025233.7(COASY):c.518C>A (p.Thr173Lys)SNV Likely benign 707234 17:40715158-40715158 17:42563140-42563140
24 COASY NM_025233.7(COASY):c.444C>G (p.Ala148=)SNV Likely benign 774997 17:40715084-40715084 17:42563066-42563066
25 COASY NM_025233.7(COASY):c.802C>T (p.Pro268Ser)SNV Likely benign 767101 17:40716080-40716080 17:42564062-42564062
26 COASY NM_025233.7(COASY):c.1149G>A (p.Ala383=)SNV Likely benign 512134 rs775259112 17:40716828-40716828 17:42564810-42564810
27 COASY NM_025233.7(COASY):c.825C>T (p.Pro275=)SNV Benign/Likely benign 386283 rs148652390 17:40716103-40716103 17:42564085-42564085
28 COASY NM_025233.7(COASY):c.81C>T (p.Thr27=)SNV Benign/Likely benign 390090 rs145723983 17:40714721-40714721 17:42562703-42562703
29 COASY NM_025233.7(COASY):c.1587C>T (p.His529=)SNV Benign 380530 rs151074271 17:40717778-40717778 17:42565760-42565760
30 COASY NM_025233.7(COASY):c.1486-5C>GSNV Benign 380441 rs74886553 17:40717672-40717672 17:42565654-42565654
31 COASY NM_025233.7(COASY):c.156G>C (p.Gln52His)SNV Benign 784790 17:40714796-40714796 17:42562778-42562778
32 COASY NM_025233.7(COASY):c.1666A>G (p.Ile556Val)SNV Benign 516550 rs140982382 17:40717957-40717957 17:42565939-42565939
33 COASY NM_025233.7(COASY):c.25C>T (p.Leu9=)SNV Benign 517020 rs117419466 17:40714665-40714665 17:42562647-42562647
34 COASY NM_025233.7(COASY):c.885G>C (p.Gly295=)SNV Benign 516963 rs144328390 17:40716163-40716163 17:42564145-42564145

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:

73
# Symbol AA change Variation ID SNP ID
1 COASY p.Arg499Cys VAR_070975 rs140709867

Expression for Neurodegeneration with Brain Iron Accumulation 6

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 6.

Pathways for Neurodegeneration with Brain Iron Accumulation 6

Pathways related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 IFNA17 H3-3B H3-3A
2 10.08 PANK2 PANK1 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 6

Cellular components related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 WAS SEMG1 NAPB HUWE1 H3-3B H3-3A
2 Barr body GO:0001740 8.62 H3-3B H3-3A

Biological processes related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.71 WAS IFNA17 H3-3B H3-3A
2 osteoblast differentiation GO:0001649 9.63 H3-3B H3-3A CAT
3 spermatid development GO:0007286 9.61 PANK2 H3-3B H3-3A
4 DNA replication-independent nucleosome assembly GO:0006336 9.49 H3-3B H3-3A
5 muscle cell differentiation GO:0042692 9.48 H3-3B H3-3A
6 pericentric heterochromatin assembly GO:0031508 9.37 H3-3B H3-3A
7 regulation of centromere complex assembly GO:0090230 9.32 H3-3B H3-3A
8 negative regulation of chromosome condensation GO:1902340 9.26 H3-3B H3-3A
9 telomeric heterochromatin assembly GO:0031509 9.16 H3-3B H3-3A
10 coenzyme A biosynthetic process GO:0015937 9.13 PANK2 PANK1 COASY
11 coenzyme biosynthetic process GO:0009108 8.8 PANK2 PANK1 COASY

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 H3-3B H3-3A
2 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Neurodegeneration with Brain Iron Accumulation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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