Neurodegeneration with Brain Iron Accumulation 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the nervous system

Extrapyramidal and movement disorders

Other degenerative diseases of basal ganglia

Hallervorden-Spatz disease

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0110740

OMIM ⁵⁸ 615643

MeSH ⁴⁵ D001480 D019150 D019189

ICD10 ³⁴ G23.0

ICD10 via Orphanet ³⁵ G23.0

Orphanet ⁶⁰ ORPHA397725

MedGen ⁴³ C3810230 CN184649

UMLS ⁷⁴ C3810230

Sources

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.

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 6

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 6

Sources

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

Sources

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

Sources

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 )	Evers C...Moog U	2017
2	Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804 )	Dusi S...Tiranti V	2014

Sources

Genes for Neurodegeneration with Brain Iron Accumulation 6

Genes related to Neurodegeneration with Brain Iron Accumulation 6 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COASY	Coenzyme A Synthase	Protein Coding	1687.3	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24360804 28489334
2	NAPB	NSF Attachment Protein Beta	Protein Coding	17.46	DISEASES inferred ¹⁵
3	PANK2	Pantothenate Kinase 2	Protein Coding	17.27	DISEASES inferred ¹⁵
4	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	16.84	DISEASES inferred ¹⁵
5	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	16.51	DISEASES inferred ¹⁵
6	NPW	Neuropeptide W	Protein Coding	16.1	DISEASES inferred ¹⁵
7	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	15.75	DISEASES inferred ¹⁵
8	VPS13A	Vacuolar Protein Sorting 13 Homolog A	Protein Coding	15.23	DISEASES inferred ¹⁵
9	PLA2G6	Phospholipase A2 Group VI	Protein Coding	14.6	DISEASES inferred ¹⁵
10	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	14.53	DISEASES inferred ¹⁵
11	BGN	Biglycan	Protein Coding	14.38	DISEASES inferred ¹⁵
12	TRIM37	Tripartite Motif Containing 37	Protein Coding	14.31	DISEASES inferred ¹⁵
13	MLX	MAX Dimerization Protein MLX	Protein Coding	8.81	GeneCards inferred via : Variants (show sections)
14	COPZ1	Coatomer Protein Complex Subunit Zeta 1	Protein Coding	6.64	DISEASES inferred ¹⁵
15	TYRO3	TYRO3 Protein Tyrosine Kinase	Protein Coding	5.37	DISEASES inferred ¹⁵
16	TFF3	Trefoil Factor 3	Protein Coding	4.31	DISEASES inferred ¹⁵
17	PLA2G1B	Phospholipase A2 Group IB	Protein Coding	4.03	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Neurodegeneration with Brain Iron Accumulation 6

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

Sources

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	Pantothenate and CoA biosynthesis ³⁸	9.9	COASY PANK2

Sources

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

Sources for Neurodegeneration with Brain Iron Accumulation 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 6

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 6:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neurodegeneration with Brain Iron Accumulation 6

Related Diseases for Neurodegeneration with Brain Iron Accumulation 6

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Diseases related to Neurodegeneration with Brain Iron Accumulation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:

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

Drugs & Therapeutics 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:

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 6

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

Publications for Neurodegeneration with Brain Iron Accumulation 6

Articles related to Neurodegeneration with Brain Iron Accumulation 6:

Genes for Neurodegeneration with Brain Iron Accumulation 6

Genes related to Neurodegeneration with Brain Iron Accumulation 6 (1 elite genes):

Variations for Neurodegeneration with Brain Iron Accumulation 6

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

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

Expression 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:

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:

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

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

Sources for Neurodegeneration with Brain Iron Accumulation 6