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

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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Extrapyramidal and movement disorders

Other degenerative diseases of basal ganglia

Hallervorden-Spatz disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615643

Disease Ontology ¹² DOID:0110740

ICD10 ³³ G23.0

Orphanet ⁵⁹ ORPHA397725

ICD10 via Orphanet ³⁴ G23.0

MedGen ⁴² C3810230 CN184649

MeSH ⁴⁴ D001480 D019150 D019189

SNOMED-CT via HPO ⁶⁹ 258211005 21061000119107 35489007 more

UMLS ⁷³ C3810230

Sources

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.

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 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:

Sources

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

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 ²⁹	COASY

Sources

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

Sources

Publications for Neurodegeneration with Brain Iron Accumulation 6

Sources

Genes for Neurodegeneration with Brain Iron Accumulation 6

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COASY	Coenzyme A Synthase	Protein Coding	1687.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24360804
2	NAPB	NSF Attachment Protein Beta	Protein Coding	17.54	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PANK2	Pantothenate Kinase 2	Protein Coding	17.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	WAS	Wiskott-Aldrich Syndrome	Protein Coding	16.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	NPW	Neuropeptide W	Protein Coding	16.24	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	15.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	15.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	VPS13A	Vacuolar Protein Sorting 13 Homolog A	Protein Coding	15.35	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	PLA2G6	Phospholipase A2 Group VI	Protein Coding	14.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	14.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	TRIM37	Tripartite Motif Containing 37	Protein Coding	14.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	MLX	MLX, MAX Dimerization Protein	Protein Coding	8.76	GeneCards inferred via : Variants (show sections)
13	COPZ1	Coatomer Protein Complex Subunit Zeta 1	Protein Coding	6.73	DISEASES inferred ¹⁵
14	TYRO3	TYRO3 Protein Tyrosine Kinase	Protein Coding	5.6	DISEASES inferred ¹⁵
15	TFF3	Trefoil Factor 3	Protein Coding	4.58	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:

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

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 ³⁷	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	9.32	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

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia