NBIA6
MCID: NRD016
MIFTS: 50

Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 12 20 73 29 6 15 71
Nbia6 57 12 20 58 73
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation 12 20 58
Copan 12 20 58
Coasy Protein-Associated Neurodegeneration 20 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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 397725DefinitionCOASY 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 dystonia 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 Metabolism of water-soluble vitamins and cofactors and Biosynthesis of cofactors. The drugs Racepinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are dysarthria and cognitive impairment

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® : 57 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) (Updated 05-Mar-2021)

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 all 41)
# Related Disease Score Top Affiliating Genes
1 dystonia 28.8 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
2 neurodegeneration with brain iron accumulation 28.6 WDR45 PLA2G6 PANK3 PANK2 PANK1 FA2H
3 neurodegeneration with brain iron accumulation 1 28.5 WDR45 PLA2G6 PANK3 PANK2 PANK1 FA2H
4 congenital disorder of glycosylation, type ip 10.2 PANK2 C19orf12
5 alcohol-related neurodevelopmental disorder 10.1 WDR45 C19orf12
6 spastic paraplegia 43, autosomal recessive 10.1 PLA2G6 FA2H C19orf12
7 choreoacanthocytosis 10.1 PANK2 PANK1 C19orf12
8 breast abscess 10.1 CRP APEH
9 axonal neuropathy 10.0
10 early-onset parkinson's disease 10.0 PLA2G6 C19orf12 ATP13A2
11 choreatic disease 10.0 PANK2 C19orf12 ATP13A2
12 spinocerebellar ataxia, autosomal recessive 24 10.0 FA2H ATP13A2
13 urogenital tuberculosis 10.0 PPCS CRP
14 meester-loeys syndrome 9.9
15 alacrima, achalasia, and mental retardation syndrome 9.9
16 autosomal recessive disease 9.9
17 bone disease 9.9
18 covid-19 9.9
19 chlamydia 9.9
20 severe acute respiratory syndrome 9.9
21 herpes simplex 9.9
22 haemophilus influenzae 9.9
23 spasticity 9.9
24 overgrowth syndrome 9.9
25 acute cystitis 9.8 UBAC1 CRP APEH
26 endocardium disease 9.8 CRP APEH
27 klebsiella pneumonia 9.8 UBAC1 CRP
28 oromandibular dystonia 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
29 parkinson disease 15, autosomal recessive early-onset 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
30 hereditary spastic paraplegia 9.8 PLA2G6 FA2H C19orf12 ATP13A2
31 neurodegeneration with brain iron accumulation 4 9.7 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
32 movement disease 9.6 WDR45 PLA2G6 PANK2 PANK1 C19orf12 ATP13A2
33 neuroaxonal dystrophy 9.5 WDR45 PLA2G6 PANK2 PANK1 FA2H C19orf12
34 spastic paraplegia 35, autosomal recessive 9.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
35 kufor-rakeb syndrome 9.2 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
36 neurodegeneration with brain iron accumulation 3 9.2 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
37 aceruloplasminemia 9.2 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
38 neurodegeneration with brain iron accumulation 2b 9.2 PLA2G6 PANK3 PANK2 PANK1 FA2H DCAF17
39 neurodegeneration with brain iron accumulation 5 9.2 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
40 neurodegeneration with brain iron accumulation 2a 9.2 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
41 acrocephalopolysyndactyly type iii 9.2 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 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
3 obsessive-compulsive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000722
4 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
5 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
6 peripheral axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003477
7 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
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 depressivity 31 HP:0000716
14 developmental regression 31 HP:0002376
15 global developmental delay 31 HP:0001263
16 spastic tetraplegia 31 HP:0002510
17 toe walking 31 HP:0040083
18 mental deterioration 31 HP:0001268
19 hyporeflexia 31 HP:0001265
20 hypoplasia of the corpus callosum 31 HP:0002079
21 rigidity 31 HP:0002063
22 distal amyotrophy 31 HP:0003693
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dysarthria
global developmental delay
spastic tetraplegia
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 (Updated 05-Mar-2021)

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4 Pharmaceutical Solutions Phase 4
5 Epinephryl borate Phase 4
6 Vasoconstrictor Agents Phase 4
7 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Unknown status NCT02951559 Phase 4
2 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
3 Comparison of the Gut Microbiota Composition in Caucasian Hispanic and Caucasian Non-Hispanic Children With and Without Obesity Completed NCT03990350
4 Impact of HPV Vaccine On The Prevalence Of Human Papillomavirus In Mouth And Vagina In Norway Completed NCT02934724
5 COVID-19: Healthcare Worker Bioresource: Immune Protection and Pathogenesis in SARS-CoV-2 Recruiting NCT04318314
6 European VALidation of HUman Papillomavirus Assays and Collection DEvices for HPV Testing on Self-samples and Urine Samples Recruiting NCT04312737

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, Globus Pallidus, Eye, Thalamus, Caudate Nucleus, Bone, Skin

Publications for Neurodegeneration with Brain Iron Accumulation 6

Articles related to Neurodegeneration with Brain Iron Accumulation 6:

(show top 50) (show all 153)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 61 57 6
28489334 2017
2
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 6 57
24360804 2014
3
An in-well direct lysis method for rapid detection of SARS-CoV-2 by real time RT-PCR in eSwab specimens. 61
33428990 2021
4
Design and Multicenter Clinical Validation of a 3-Dimensionally Printed Nasopharyngeal Swab for SARS-CoV-2 Testing. 61
33599684 2021
5
Copan eNAT Transport System to Address Challenges in COVID-19 Diagnostics in Regions with Limited Testing Access. 61
33579730 2021
6
A comparison of ThinPrep against four non-volatile transport media for HPV testing at or near the point of care. 61
33358758 2021
7
Identification of Viruses in Patients With Postviral Olfactory Dysfunction by Multiplex Reverse-Transcription Polymerase Chain Reaction. 61
32786080 2021
8
Clinical Diagnostic Study of a Novel Injection Molded Swab for SARS-Cov-2 Testing. 61
33432534 2021
9
Inactivation of SARS-CoV-2 virus in saliva using a guanidium based transport medium suitable for RT-PCR diagnostic assays. 61
33501462 2021
10
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model. 61
33352696 2020
11
COVID-19 Emergency Management: From the Reorganization of the Endoscopy Service to the Verification of the Reprocessing Efficacy. 61
33158126 2020
12
Evaluation of Commercially Available Viral Transport Medium (VTM) for SARS-CoV-2 Inactivation and Use in Point-of-Care (POC) Testing. 61
33114233 2020
13
Assessment of the direct quantitation of SARS-CoV-2 by droplet digital PCR. 61
33127953 2020
14
Pandemic printing: a novel 3D-printed swab for detecting SARS-CoV-2. 61
32772375 2020
15
Recovery of aerobic gram-negative bacteria from the Copan Eswab transport system after long-term storage. 61
32622288 2020
16
Evaluation of the FecalSwab for Stool Specimen Storage and Molecular Detection of Enteropathogens on the BD Max System. 61
32461284 2020
17
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
18
Optimizing a real-time PCR assay for rapid detection of Candida auris in nasal and axillary/groin samples. 61
32478655 2020
19
Comparison of deferred and bedside culture of Neisseria gonorrhoeae: a study to improve the isolation of gonococci for antimicrobial susceptibility testing. 61
32685118 2020
20
Rectal screening for carbapenemase-producing Enterobacteriaceae: a proposed workflow. 61
31639545 2020
21
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
22
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
23
Comparison of Copan ESwab and FLOQSwab for COVID-19 Diagnosis: Working around a Supply Shortage. 61
32295895 2020
24
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
25
Evaluation of the WASPLab Segregation Software To Automatically Analyze Urine Cultures Using Routine Blood and MacConkey Agars. 61
31941690 2020
26
Respiratory viruses in the patient environment. 61
32043434 2020
27
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
28
SARS-CoV-2 detection in setting of viral swabs scarcity: Are MRSA swabs and viral swabs equivalent? 61
32756602 2020
29
Copan microFLOQ® Direct Swab collection of bloodstains, saliva, and semen on cotton cloth. 61
31165261 2020
30
Bacterial Diversity Evolution in Maya Plaster and Stone Following a Bio-Conservation Treatment. 61
33240254 2020
31
Recovery of Nontuberculous Mycobacteria and Nocardiae Causing Skin/Soft Tissue Infections by Use of the Copan ESwab Collection and Transport System. 61
31619527 2019
32
Respiratory viruses on personal protective equipment and bodies of healthcare workers. 61
31668149 2019
33
CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases. 61
31701655 2019
34
Development of a scale for measuring collaboration between physicians and nurses in primary health-care teams. 61
30999774 2019
35
Copan WASPLab automation significantly reduces incubation times and allows earlier culture readings. 61
30986560 2019
36
Touch DNA collection - Performance of four different swabs. 61
31525724 2019
37
Automated Detection of Streptococcus pyogenes Pharyngitis by Use of Colorex Strep A CHROMagar and WASPLab Artificial Intelligence Chromogenic Detection Module Software. 61
31434725 2019
38
Total Laboratory Automation: What Is Gained, What Is Lost, and Who Can Afford It? 61
31383263 2019
39
Advantages of Chromosome X-STRs Markers in Solving a Father-Daughter Paternity Case with one Mismatch on SE33 Locus. 61
31532110 2019
40
Prevalence of microbial contamination in donor corneas. 61
31572655 2019
41
Evaluating the preservation and isolation of stool pathogens using the COPAN FecalSwab™ Transport System and Walk-Away Specimen Processor. 61
30611563 2019
42
Simulating X-ray Absorption Spectra with Linear-Response Density Cumulant Theory. 61
30742431 2019
43
Prospective evaluation of three rapid molecular tests for seasonal influenza in patients presenting at an emergency unit. 61
30639844 2019
44
Comparison of the Superpolymyxin and ChromID Colistin R Screening Media for the Detection of Colistin-Resistant Enterobacteriaceae from Spiked Rectal Swabs. 61
30323032 2019
45
Inborn errors of coenzyme A metabolism and neurodegeneration. 61
30740736 2019
46
Evaluation of Methods for the Extraction of Microbial DNA From Vaginal Swabs Used for Microbiome Studies. 61
31245304 2019
47
Automated Incubation and Digital Image Analysis of Chromogenic Media Using Copan WASPLab Enables Rapid Detection of Vancomycin-Resistant Enterococcus. 61
31781516 2019
48
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 61
30089828 2018
49
Are bacterial culture quantifications reliable? Comparative performance of the WASP automated inoculation instrument in the era of ISO 15189 accreditation. 61
30307844 2018
50
Comparison of clinical performance of commercial urine growth stabilization products. 61
29941365 2018

Variations for Neurodegeneration with Brain Iron Accumulation 6

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

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COASY NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) SNV Pathogenic 100662 rs140709867 17:40717686-40717686 17:42565668-42565668
2 COASY NM_025233.7(COASY):c.175C>T (p.Gln59Ter) SNV Pathogenic 100663 rs587777136 17:40714815-40714815 17:42562797-42562797
3 COASY NM_025233.7(COASY):c.641C>T (p.Ala214Val) SNV Pathogenic 599340 rs1567904066 17:40715281-40715281 17:42563263-42563263
4 COASY NM_025233.7(COASY):c.1395_1396TG[6] (p.Ile469Ter) Microsatellite Pathogenic 421057 rs560987504 17:40717494-40717495 17:42565476-42565477
5 COASY NM_025233.7(COASY):c.876T>A (p.Tyr292Ter) SNV Pathogenic 664943 rs1597713743 17:40716154-40716154 17:42564136-42564136
6 COASY NC_000017.11:g.(?_42562392)_(42565988_?)del Deletion Pathogenic 832522 17:40714410-40718006
7 COASY NM_025233.7(COASY):c.701-2A>C SNV Likely pathogenic 690396 rs1022433060 17:40715977-40715977 17:42563959-42563959
8 COASY NM_025233.7(COASY):c.1064C>T (p.Pro355Leu) SNV Uncertain significance 690397 rs373975726 17:40716743-40716743 17:42564725-42564725
9 COASY NM_025233.7(COASY):c.1632+3T>G SNV Uncertain significance 639078 rs1597715924 17:40717826-40717826 17:42565808-42565808
10 COASY NM_025233.7(COASY):c.113A>G (p.Tyr38Cys) SNV Uncertain significance 646524 rs372825682 17:40714753-40714753 17:42562735-42562735
11 COASY NM_025233.7(COASY):c.161A>C (p.Gln54Pro) SNV Uncertain significance 647871 rs1597712184 17:40714801-40714801 17:42562783-42562783
12 COASY NM_025233.7(COASY):c.1561G>A (p.Gly521Arg) SNV Uncertain significance 648812 rs372563296 17:40717752-40717752 17:42565734-42565734
13 COASY NM_025233.7(COASY):c.1183G>A (p.Ala395Thr) SNV Uncertain significance 649844 rs139263701 17:40716862-40716862 17:42564844-42564844
14 COASY NM_025233.7(COASY):c.1285C>T (p.Arg429Trp) SNV Uncertain significance 652590 rs201600053 17:40717048-40717048 17:42565030-42565030
15 COASY NM_025233.7(COASY):c.1393C>T (p.Arg465Cys) SNV Uncertain significance 474859 rs146857074 17:40717494-40717494 17:42565476-42565476
16 COASY NM_025233.7(COASY):c.*2_*3del (p.Ter565=) Deletion Uncertain significance 541699 rs1555625395 17:40717986-40717987 17:42565968-42565969
17 COASY NM_025233.7(COASY):c.932C>T (p.Ala311Val) SNV Uncertain significance 581198 rs201949834 17:40716480-40716480 17:42564462-42564462
18 COASY NM_025233.7(COASY):c.557A>G (p.Gln186Arg) SNV Uncertain significance 842604 17:40715197-40715197 17:42563179-42563179
19 COASY NM_025233.7(COASY):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 846528 17:40716826-40716826 17:42564808-42564808
20 COASY NM_025233.7(COASY):c.1520G>C (p.Ser507Thr) SNV Uncertain significance 855311 17:40717711-40717711 17:42565693-42565693
21 COASY NM_025233.7(COASY):c.1040C>T (p.Pro347Leu) SNV Uncertain significance 855594 17:40716588-40716588 17:42564570-42564570
22 COASY NM_025233.7(COASY):c.248T>C (p.Val83Ala) SNV Uncertain significance 937570 17:40714888-40714888 17:42562870-42562870
23 COASY NM_025233.7(COASY):c.1322C>T (p.Thr441Met) SNV Uncertain significance 965514 17:40717264-40717264 17:42565246-42565246
24 COASY NM_025233.7(COASY):c.518C>A (p.Thr173Lys) SNV Likely benign 707234 rs751069547 17:40715158-40715158 17:42563140-42563140
25 COASY NM_025233.7(COASY):c.444C>G (p.Ala148=) SNV Likely benign 774997 rs142297801 17:40715084-40715084 17:42563066-42563066
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.802C>T (p.Pro268Ser) SNV Likely benign 767101 rs143964295 17:40716080-40716080 17:42564062-42564062
28 COASY NM_025233.7(COASY):c.1666A>G (p.Ile556Val) SNV Benign 516550 rs140982382 17:40717957-40717957 17:42565939-42565939
29 COASY NM_025233.7(COASY):c.885G>C (p.Gly295=) SNV Benign 516963 rs144328390 17:40716163-40716163 17:42564145-42564145
30 COASY NM_025233.7(COASY):c.1587C>T (p.His529=) SNV Benign 380530 rs151074271 17:40717778-40717778 17:42565760-42565760
31 COASY NM_025233.7(COASY):c.825C>T (p.Pro275=) SNV Benign 386283 rs148652390 17:40716103-40716103 17:42564085-42564085
32 COASY NM_025233.7(COASY):c.156G>C (p.Gln52His) SNV Benign 784790 rs200009135 17:40714796-40714796 17:42562778-42562778
33 COASY NM_025233.7(COASY):c.81C>T (p.Thr27=) SNV Benign 390090 rs145723983 17:40714721-40714721 17:42562703-42562703
34 COASY NM_025233.7(COASY):c.25C>T (p.Leu9=) SNV Benign 517020 rs117419466 17:40714665-40714665 17:42562647-42562647
35 COASY NM_025233.7(COASY):c.1486-5C>G SNV Benign 380441 rs74886553 17:40717672-40717672 17:42565654-42565654
36 COASY NM_025233.7(COASY):c.-1C>T SNV not provided 441109 rs147852474 17:40714640-40714640 17:42562622-42562622

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

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 cytosol GO:0005829 9.4 WDR45 WAS UBAC1 PPCS PPCDC PLA2G6
2 vesicle membrane GO:0012506 8.96 WAS ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.13 WDR45 C19orf12 ATP13A2
2 coenzyme A biosynthetic process GO:0015937 9.1 PPCS PPCDC PANK3 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 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.16 WDR45 ATP13A2
2 acetyl-CoA binding GO:1905502 8.96 PANK3 PANK1
3 pantothenate kinase activity GO:0004594 8.8 PANK3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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
71 UMLS
72 UMLS via Orphanet
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