MCID: NRD016
MIFTS: 36

Neurodegeneration with Brain Iron Accumulation 6

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic 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 75 29 6 15 73
Nbia6 57 12 59 75
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation 12 59
Copan 12 59
Neurodegeneration, with Brain Iron Accumulation, Type 6 40
Coasy Protein-Associated Neurodegeneration 59

Characteristics:

Orphanet epidemiological data:

59
coasy protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
two unrelated families have been reported (last curated february 2014)
onset in early childhood after initial normal development
gait difficulties and beginning of cognitive decline in first decade
loss of independent ambulation in the second decade


HPO:

32
neurodegeneration with brain iron accumulation 6:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 6

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)

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 2b, and has symptoms including muscle rigidity, paraparesis, spastic and bradykinesia. 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, globus pallidus and eye, and related phenotypes are dysarthria and obsessive-compulsive behavior

UniProtKB/Swiss-Prot : 75 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.

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.

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 15)
# Related Disease Score Top Affiliating Genes
1 coasy protein-associated neurodegeneration 11.6
2 neurodegeneration with brain iron accumulation 2b 10.3 PANK2 PLA2G6
3 kufor-rakeb syndrome 10.3 PANK2 PLA2G6
4 neuroaxonal dystrophy 10.2 PANK2 PLA2G6
5 leukodystrophy, hypomyelinating, 2 10.2 PANK2 VPS13A
6 parkinson disease 15, autosomal recessive early-onset 10.0 C19orf12 PANK2 PLA2G6
7 neurodegeneration with brain iron accumulation 4 10.0 C19orf12 PANK2 PLA2G6
8 atransferrinemia 10.0 BCS1L PANK2
9 aceruloplasminemia 9.8 BCS1L PANK2 PLA2G6
10 neurodegeneration with brain iron accumulation 5 9.8 C19orf12 COASY PANK2 PLA2G6
11 neurodegeneration with brain iron accumulation 2a 9.7 C19orf12 COASY PANK2 PLA2G6
12 neurodegeneration with brain iron accumulation 3 9.6 C19orf12 DCAF17 PANK2 PLA2G6
13 dystonia 9.4 C19orf12 PANK2 PLA2G6
14 neurodegeneration with brain iron accumulation 1 9.4 C19orf12 COASY PANK2 PLA2G6 VPS13A
15 neurodegeneration with brain iron accumulation 9.3 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
spastic tetraplegia
dystonia
rigidity
oromandibular dystonia
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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 6:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 Very frequent (99-80%) HP:0001260
2 obsessive-compulsive behavior 59 32 Very frequent (99-80%) HP:0000722
3 oromandibular dystonia 59 32 Very frequent (99-80%) HP:0012048
4 spastic paraparesis 59 32 Very frequent (99-80%) HP:0002313
5 depressivity 32 HP:0000716
6 developmental regression 32 HP:0002376
7 cognitive impairment 59 Very frequent (99-80%)
8 spastic tetraplegia 32 HP:0002510
9 pes cavus 32 occasional (7.5%) HP:0001761
10 rigidity 32 HP:0002063
11 neurodegeneration 32 HP:0002180
12 difficulty walking 59 Very frequent (99-80%)
13 mental deterioration 32 HP:0001268
14 hyporeflexia 32 HP:0001265
15 bradykinesia 32 HP:0002067
16 parkinsonism 59 Very frequent (99-80%)
17 distal amyotrophy 32 HP:0003693
18 motor axonal neuropathy 32 HP:0007002
19 toe walking 32 HP:0040083
20 peripheral axonal neuropathy 59 Very frequent (99-80%)
21 abnormality of thalamus morphology 59 Very frequent (99-80%)
22 abnormality of the striatum 59 Very frequent (99-80%)
23 abnormality of the globus pallidus 59 Very frequent (99-80%)
24 abnormality of the caudate nucleus 59 Very frequent (99-80%)
25 eye of the tiger anomaly of globus pallidus 59 Very frequent (99-80%)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:


muscle rigidity, paraparesis, spastic, bradykinesia, oromandibular dystonia

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 29 COASY

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 6

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

41
Brain, Globus Pallidus, Eye, Thalamus, Caudate Nucleus

Publications for Neurodegeneration with Brain Iron Accumulation 6

Variations for Neurodegeneration with Brain Iron Accumulation 6

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

75
# 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 12)
# 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 GRCh37 Chromosome 17, 40717988: 40717989
12 COASY NM_025233.6(COASY): c.*2_*3del deletion Uncertain significance GRCh38 Chromosome 17, 42565970: 42565971

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 9.32 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 coenzyme A biosynthetic process GO:0015937 8.96 COASY PANK2
2 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 protein binding GO:0005515 9.44 BCS1L COASY DCAF17 MLX NAPB NPW

Sources for Neurodegeneration with Brain Iron Accumulation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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