NBIA6
MCID: NRD016
MIFTS: 39

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 58 12 76 30 6 15 74
Nbia6 58 12 60 76
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation 12 60
Copan 12 60
Neurodegeneration, with Brain Iron Accumulation, Type 6 41
Coasy Protein-Associated Neurodegeneration 60

Characteristics:

Orphanet epidemiological data:

60
coasy protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
neurodegeneration with brain iron accumulation 6:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 6

OMIM : 58 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)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 6, also known as nbia6, is related to coasy protein-associated neurodegeneration and neurodegeneration with brain iron accumulation 2a, and has symptoms including oromandibular dystonia, bradykinesia 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 is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are pes cavus 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.

UniProtKB/Swiss-Prot : 76 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 14)
# Related Disease Score Top Affiliating Genes
1 coasy protein-associated neurodegeneration 11.8
2 neurodegeneration with brain iron accumulation 2a 10.2 PANK2 PLA2G6
3 chlamydia 10.1
4 kufor-rakeb syndrome 10.1 PANK2 PLA2G6
5 neurodegeneration with brain iron accumulation 4 10.1 C19orf12 PANK2 PLA2G6
6 neuroaxonal dystrophy 10.1 PANK2 PLA2G6
7 parkinson disease 15, autosomal recessive early-onset 10.0 C19orf12 PANK2 PLA2G6
8 neurodegeneration with brain iron accumulation 5 10.0 C19orf12 COASY PANK2 PLA2G6
9 aceruloplasminemia 10.0 BCS1L PANK2 PLA2G6
10 leukodystrophy, hypomyelinating, 2 10.0 PANK2 VPS13A
11 neurodegeneration with brain iron accumulation 2b 9.9 PANK2 PLA2G1B PLA2G6
12 neurodegeneration with brain iron accumulation 3 9.9 C19orf12 DCAF17 PANK2 PLA2G6
13 neurodegeneration with brain iron accumulation 9.8 C19orf12 COASY PANK2 PLA2G6 VPS13A
14 neurodegeneration with brain iron accumulation 1 9.8 C19orf12 COASY PANK2 PLA2G6 VPS13A

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:

33 60 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes cavus 33 occasional (7.5%) HP:0001761
2 dysarthria 60 33 Very frequent (99-80%) HP:0001260
3 obsessive-compulsive behavior 60 33 Very frequent (99-80%) HP:0000722
4 oromandibular dystonia 60 33 Very frequent (99-80%) HP:0012048
5 spastic paraparesis 60 33 Very frequent (99-80%) HP:0002313
6 depressivity 33 HP:0000716
7 developmental regression 33 HP:0002376
8 global developmental delay 33 HP:0001263
9 cognitive impairment 60 Very frequent (99-80%)
10 spastic tetraplegia 33 HP:0002510
11 toe walking 33 HP:0040083
12 rigidity 33 HP:0002063
13 neurodegeneration 33 HP:0002180
14 mental deterioration 33 HP:0001268
15 difficulty walking 60 Very frequent (99-80%)
16 hyporeflexia 33 HP:0001265
17 bradykinesia 33 HP:0002067
18 hypoplasia of the corpus callosum 33 HP:0002079
19 peripheral axonal neuropathy 60 Very frequent (99-80%)
20 parkinsonism 60 Very frequent (99-80%)
21 distal amyotrophy 33 HP:0003693
22 motor axonal neuropathy 33 HP:0007002
23 abnormality of thalamus morphology 60 Very frequent (99-80%)
24 abnormality of the striatum 60 Very frequent (99-80%)
25 abnormal globus pallidus morphology 60 Very frequent (99-80%)
26 abnormal caudate nucleus morphology 60 Very frequent (99-80%)
27 eye of the tiger anomaly of globus pallidus 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:


oromandibular dystonia, bradykinesia, muscle rigidity, paraparesis, spastic

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.23 BCS1L BGN DCAF17 PANK2 PLA2G6 TRIM37

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 6

Search Clinical Trials , 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 30 COASY

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 6

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

42
Brain, Eye, Globus Pallidus, Thalamus, Caudate Nucleus

Publications for Neurodegeneration with Brain Iron Accumulation 6

Articles related to Neurodegeneration with Brain Iron Accumulation 6:

# Title Authors Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. ( 28489334 )
2017
2
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804 )
2014

Variations for Neurodegeneration with Brain Iron Accumulation 6

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

76
# Symbol AA change Variation ID SNP ID
1 COASY p.Arg499Cys VAR_070975 rs140709867

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 COASY NM_025233.6(COASY): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs140709867 GRCh37 Chromosome 17, 40717686: 40717686
2 COASY NM_025233.6(COASY): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs140709867 GRCh38 Chromosome 17, 42565668: 42565668
3 COASY NM_025233.6(COASY): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs587777136 GRCh37 Chromosome 17, 40714815: 40714815
4 COASY NM_025233.6(COASY): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs587777136 GRCh38 Chromosome 17, 42562797: 42562797
5 COASY NM_025233.6(COASY): c.1486-5C> G single nucleotide variant Benign rs74886553 GRCh37 Chromosome 17, 40717672: 40717672
6 COASY NM_025233.6(COASY): c.1486-5C> G single nucleotide variant Benign rs74886553 GRCh38 Chromosome 17, 42565654: 42565654
7 COASY NM_025233.6(COASY): c.-1C> T single nucleotide variant not provided rs147852474 GRCh38 Chromosome 17, 42562622: 42562622
8 COASY NM_025233.6(COASY): c.-1C> T single nucleotide variant not provided rs147852474 GRCh37 Chromosome 17, 40714640: 40714640
9 COASY NM_025233.6(COASY): c.1393C> T (p.Arg465Cys) single nucleotide variant Uncertain significance rs146857074 GRCh38 Chromosome 17, 42565476: 42565476
10 COASY NM_025233.6(COASY): c.1393C> T (p.Arg465Cys) single nucleotide variant Uncertain significance rs146857074 GRCh37 Chromosome 17, 40717494: 40717494
11 COASY NM_025233.6(COASY): c.*2_*3del deletion Uncertain significance rs1555625395 GRCh37 Chromosome 17, 40717988: 40717989
12 COASY NM_025233.6(COASY): c.*2_*3del deletion Uncertain significance rs1555625395 GRCh38 Chromosome 17, 42565970: 42565971
13 COASY NM_025233.6(COASY): c.932C> T (p.Ala311Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 40716480: 40716480
14 COASY NM_025233.6(COASY): c.932C> T (p.Ala311Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 42564462: 42564462
15 COASY NM_025233.7(COASY): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 40715281: 40715281
16 COASY NM_025233.7(COASY): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 42563263: 42563263

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 9.9 COASY PANK2

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 9.36 C19orf12 COASY COPZ1 DCAF17 MLX PANK2

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

# Name GO ID Score Top Affiliating Genes
1 antibacterial humoral response GO:0019731 9.32 PLA2G1B PLA2G6
2 phosphatidylcholine acyl-chain remodeling GO:0036151 9.26 PLA2G1B PLA2G6
3 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.16 PLA2G1B PLA2G6
4 coenzyme A biosynthetic process GO:0015937 8.96 COASY PANK2
5 coenzyme biosynthetic process GO:0009108 8.62 COASY PANK2

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

# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.16 PLA2G1B PLA2G6
2 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.96 PLA2G1B PLA2G6
3 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.62 PLA2G1B PLA2G6

Sources for Neurodegeneration with Brain Iron Accumulation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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