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

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Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:

Name: Neurodegeneration with Brain Iron Accumulation ¹¹ ¹⁹ ⁵² ⁵⁸ ²⁸ ⁵ ⁴³ ¹⁴ ⁷⁵

Nbia ¹¹ ¹⁹ ⁵⁸

Neurodegeneration with Brain Iron Accumulation Disorders ²⁴

Neurodegeneration, with Brain Iron Accumulation ³⁸

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive,X-linked dominant ⁵⁸

Prevelance:

1-9/1000000 (Europe) ⁵⁸

Age Of Onset:

Adolescent,Adult,Childhood,Infancy ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Extrapyramidal and movement disorders

Other degenerative diseases of basal ganglia

Hallervorden-Spatz disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹¹ DOID:0110734

MeSH ⁴³ C538421

MESH via Orphanet ⁴⁴ C538421

ICD10 via Orphanet ³² G23.0

UMLS via Orphanet ⁷² C2931845

Orphanet ⁵⁸ ORPHA385

SNOMED-CT via HPO ⁶⁹ 16046003 221360009 271700006 more

UMLS ⁷¹ C2931845

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Summaries for Neurodegeneration with Brain Iron Accumulation

GARD: ¹⁹ Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP and DCAF17. Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein-associated neurodegeneration (BPAN), caused by genetic changes in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by genetic changes in the FTL gene, is inherited in an autosomal dominant manner.

MalaCards based summary: Neurodegeneration with Brain Iron Accumulation, also known as nbia, is related to neurodegeneration with brain iron accumulation 6 and neurodegeneration with brain iron accumulation 4. An important gene associated with Neurodegeneration with Brain Iron Accumulation is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Selective autophagy. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are dystonia and iron accumulation in brain

NINDS: ⁵² Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Several genes have been found that cause NBIA. Symptoms, which vary greatly among patients and usually develop during childhood, may include: dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk) dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements) muscle rigidity (uncontrolled tightness of the muscles) spasticity (sudden, involuntary muscle spasms) ataxia (inability to coordinate movements) confusion seizures stupor dementia visual changes Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.

Orphanet: ⁵⁸ Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.

Disease Ontology: ¹¹ A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.

Wikipedia: ⁷⁵ Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative... more...

GeneReviews: NBK121988

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Related Diseases for Neurodegeneration with Brain Iron Accumulation

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)

#	Related Disease	Score	Top Affiliating Genes
1	neurodegeneration with brain iron accumulation 6	33.9	PANK2 COASY
2	neurodegeneration with brain iron accumulation 4	33.8	WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
3	neurodegeneration with brain iron accumulation 2a	33.8	WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
4	neurodegeneration with brain iron accumulation 5	33.7	WIPI2 WIPI1 WDR45 RB1CC1 PLA2G6 PANK2
5	neurodegeneration with brain iron accumulation 1	33.7	WDR45 SNCA PLA2G6 PANK4 PANK2 FTL
6	neurodegeneration with brain iron accumulation 2b	33.7	WDR45 REPS1 PLA2G6 PANK2 GTPBP2 FTL
7	neurodegeneration with brain iron accumulation 3	33.7	WDR45 PLA2G6 PANK2 GTPBP2 FTL FA2H
8	kufor-rakeb syndrome	32.7	WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
9	woodhouse-sakati syndrome	32.6	WDR45 REPS1 PLA2G6 PANK2 GTPBP2 FTL
10	aceruloplasminemia	32.6	WDR45 SNCA SLC39A14 REPS1 PLA2G6 PANK2
11	iron metabolism disease	32.2	PANK2 FTL CP
12	dystonia	31.9	WDR45 SNCA SLC39A14 PLA2G6 PANK2 FTL
13	parkinsonism	31.9	WDR45 SNCA SLC39A14 PLA2G6 PANK2 FTL
14	movement disease	31.7	WDR45 SNCA PLA2G6 PANK2 FTL CP
15	dementia, lewy body	31.6	SNCA PLA2G6 ATP13A2
16	hereditary spastic paraplegia 35	31.5	WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
17	neuroaxonal dystrophy	31.5	WDR45 SNCA PLA2G6 PANK2 FTL FA2H
18	dystonia 12	31.3	SLC39A14 PANK2 ATP13A2
19	hereditary spastic paraplegia	31.3	WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
20	neuronal ceroid lipofuscinosis	31.2	SNCA PLA2G6 PANK2 C19orf12 ATP13A2
21	alcohol-related neurodevelopmental disorder	31.1	WDR45 PLA2G6 PANK2 C19orf12
22	spastic paraplegia 43, autosomal recessive	31.0	FA2H C19orf12
23	choreatic disease	31.0	SNCA PANK2 FTL CP
24	parkinson disease 15, autosomal recessive early-onset	31.0	WDR45 SNCA PLA2G6 PANK2 FA2H C19orf12
25	neuroacanthocytosis	30.9	PANK2 CP
26	oromandibular dystonia	30.8	PLA2G6 PANK2 COASY C19orf12
27	mitochondrial membrane protein-associated neurodegeneration	12.1
28	neurodegeneration with brain iron accumulation 7	12.0
29	neurodegeneration with brain iron accumulation 8	12.0
30	spastic paraplegia 35, autosomal recessive, with or without neurodegeneration	11.7
31	karak syndrome	11.5
32	spasticity	10.7
33	3-methylglutaconic aciduria, type iii	10.7
34	retinitis pigmentosa	10.5
35	leukodystrophy	10.5
36	parkinson disease 3, autosomal dominant	10.4	SNCA PLA2G6 ATP13A2
37	cerebral degeneration	10.4	SNCA PLA2G6 PANK2 FA2H
38	gaucher disease, type i	10.4	SNCA PLA2G6 ATP13A2
39	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
40	paraplegia	10.4
41	metal metabolism disorder	10.4	SLC39A14 FTL CP
42	early-onset parkinson's disease	10.4	WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
43	juvenile-onset parkinson's disease	10.4	SNCA ATP13A2
44	vascular parkinsonism	10.4	SNCA ATP13A2
45	hemochromatosis, type 1	10.4	SLC39A14 PANK2 FTL CP
46	parkinsonism with spasticity, x-linked	10.4	WDR45 ATP13A2
47	spastic paraplegia 20, autosomal recessive	10.4
48	late-onset retinal degeneration	10.4
49	peripheral retinal degeneration	10.4
50	retinitis	10.4

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation:

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Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation:

⁵⁸ ³⁰ (show all 10)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dystonia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001332
2	iron accumulation in brain ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012675
3	spasticity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001257
4	dysarthria ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001260
5	chorea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002072
6	optic atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000648
7	retinopathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000488
8	abnormality of extrapyramidal motor function ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002071
9	cerebellar atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001272
10	rigidity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002063

GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	ATP13A2 C19orf12 COASY CP CRAT DCAF17
2	no effect	GR00402-S-2	10.15	C19orf12 COASY CP CRAT DCAF17 FA2H

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.9	ATP13A2 COASY CP FA2H FTL GTPBP2
2	homeostasis/metabolism	MP:0005376	9.77	ATP13A2 COASY CP CRAT FA2H FTL
3	cellular	MP:0005384	9.44	ATP13A2 COASY CP CRAT DCAF17 GTPBP2

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Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation

Drugs for Neurodegeneration with Brain Iron Accumulation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Iron

Approved

Phase 2

7439-89-6

29936

2

Deferiprone

Approved

Phase 2

30652-11-0

2972

3

Iron Chelating Agents

Phase 2

4

Pharmaceutical Solutions

Phase 2

5

Chelating Agents

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA)	Recruiting	NCT00907283	Phase 2	Deferiprone
2	Imaging Neuromelanin and Iron in Dystonia/Parkinsonism	Unknown status	NCT03572114
3	Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.	Completed	NCT05615571
4	TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study	Recruiting	NCT05522374
5	NBIAready: Online Collection of Natural History Patient-reported Outcome Measures	Recruiting	NCT02587858

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation

Cochrane evidence based reviews: neurodegeneration with brain iron accumulation

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Genetic Tests for Neurodegeneration with Brain Iron Accumulation

Genetic tests related to Neurodegeneration with Brain Iron Accumulation:

#	Genetic test	Affiliating Genes
1	Neurodegeneration with Brain Iron Accumulation ²⁸	PANK4

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Anatomical Context for Neurodegeneration with Brain Iron Accumulation

Organs/tissues related to Neurodegeneration with Brain Iron Accumulation:

MalaCards : Brain, Eye, Globus Pallidus, Subthalamic Nucleus, Thalamus, Skin, Heart

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Publications for Neurodegeneration with Brain Iron Accumulation

Articles related to Neurodegeneration with Brain Iron Accumulation:

(show top 50) (show all 518)

#	Title	Authors	PMID	Year
1	Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. ⁶² ²⁴ ⁵	Evers C...Moog U	28489334	2017
2	Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ⁶² ²⁴ ⁵	Dusi S...Tiranti V	24360804	2014
3	Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). ²⁴ ⁵	Gregory A...Hayflick SJ	31087512	2019
4	FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. ⁶² ⁵	Rattay TW...Schule R	31135052	2019
5	Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype. ⁶² ⁵	Akcakaya NH...Yapici Z	31804703	2019
6	New genetic causes for complex hereditary spastic paraplegia. ⁶² ⁵	Souza PVS...Oliveira ASB	28716262	2017
7	Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. ⁶² ⁵	Ceccatelli Berti C...Goffrini P	28357284	2015
8	Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35. ⁶² ⁵	Marelli C...Koenig M	30713878	2015
9	PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. ⁶² ⁵	Illingworth MA...Kurian MA	24745848	2014
10	C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. ⁶² ⁵	Deschauer M...Haack TB	22584950	2012
11	Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. ⁶² ⁵	Paisan-Ruiz C...Houlden H	20619503	2012
12	Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. ⁶² ⁵	Hartig MB...Prokisch H	21981780	2011
13	Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ⁶² ⁵	Engel LA...Kotzbauer PT	20886109	2010
14	R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. ⁶² ⁵	Sina F...Paisan-Ruiz C	19087156	2009
15	Neurodegeneration associated with genetic defects in phospholipase A(2). ⁶² ⁵	Gregory A...Hayflick SJ	18799783	2008
16	PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. ⁶² ⁵	Morgan NV...Hayflick SJ	16783378	2006
17	Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region. ⁵	Carrasco Salas P...Vazquez Rico I	33059505	2022
18	Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. ⁵	Rochdi K...Krahn M	34852264	2022
19	Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias. ⁵	Wan N...Jiang H	34284285	2021
20	Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. ⁵	Hiraide T...Saitsu H	33644862	2021
21	Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. ⁵	Lee JY...Don AS	33550528	2021
22	New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family. ⁵	Toth-Bencsik R...Molnar MJ	34168672	2021
23	Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. ⁵	Stolarova L...Kleibl Z	33050356	2020
24	The natural history of infantile neuroaxonal dystrophy. ⁵	Altuame FD...Alkuraya FS	32357911	2020
25	Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review. ⁵	Chu YT...Lin CH	32183746	2020
26	Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. ⁵	Cheema H...Rolfs A	33083013	2020
27	Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. ⁵	Dusek P...Schneider SA	31518459	2020
28	PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. ⁵	Darling A...Perez-Duenas B	30340910	2019
29	Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl. ⁵	Jain S...Sharma S	31516627	2019
30	Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review. ⁵	Shen T...Zhang B	31496990	2019
31	PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. ⁵	Guo YP...Guo JF	30619057	2018
32	Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. ⁵	Inzelberg R...Jordanova A	29966207	2018
33	PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway. ⁵	Chiu CC...Wang HL	29108286	2017
34	Lessons from a pair of siblings with BPAN. ⁶² ²⁴	Zarate YA...Kruer MC	26577041	2016
35	Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. ⁵	Soehn AS...Schols L	27316240	2016
36	Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. ⁵	Davids M...Toro C	26668131	2016
37	Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ⁵	Kapoor S...Kumar A	27196560	2016
38	PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. ⁵	Giri A...Simon-Sanchez J	27127721	2016
39	Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ⁵	Yamamoto T...Kobayashi K	27081553	2015
40	Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. ⁵	Romani M...Gouider-Khouja N	25164370	2015
41	New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. ⁶² ²⁴	Hogarth P...Hayflick SJ	23269600	2013
42	Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. ⁶² ²⁴	Haack TB...Hayflick SJ	23176820	2012
43	Neuroimaging features of neurodegeneration with brain iron accumulation. ⁶² ²⁴	Kruer MC...Hayflick SJ	21920862	2012
44	Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. ⁵	Ugolino J...Monteiro MJ	21665991	2011
45	Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. ⁶² ²⁴	Bruggemann N...Klein C	21060012	2010
46	Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). ⁶² ²⁴	Kruer MC...Hayflick SJ	20853438	2010
47	ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. ⁶² ²⁴	Schneider SA...Bhatia KP	20310007	2010
48	Infantile neuroaxonal dystrophy: what's most important for the diagnosis? ⁵	Carrilho I...Barbot C	18359254	2008
49	Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. ⁵	Ramirez A...Kubisch C	16964263	2006
50	Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). ²⁴	Hogarth P...Hayflick SJ	28034613	2017

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Genes for Neurodegeneration with Brain Iron Accumulation

Genes related to Neurodegeneration with Brain Iron Accumulation (7 elite genes):

(show top 50) (show all 81)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	484.34	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	31087512 31804703 21981780 (more) 34284285 22584950 31518459
2	PLA2G6	Phospholipase A2 Group VI	Protein Coding	472.37	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	16783378 18359254 18799783 (more) 19087156 20619503 20886109 24745848 25164370 26668131 27081553 27127721 27196560 28716262 29108286 30340910 30619057 31496990 31516627 32183746 32357911 33550528 34168672 33050356
3	COASY	Coenzyme A Synthase	Protein Coding	471.17	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	33644862 28357284 24360804 (more) 28489334
4	ATP13A2	ATPase Cation Transporting 13A2	Protein Coding	449.78	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)	29966207 16964263 21665991
5	REPS1	RALBP1 Associated Eps Domain Containing 1	Protein Coding	423.33	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	CRAT	Carnitine O-Acetyltransferase	Protein Coding	420.64	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	PANK4	Pantothenate Kinase 4 (Inactive)	Protein Coding	106.76	Genetic Tests ²⁸ DISEASES inferred ¹⁴
8	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	50.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)	27316240 30713878 31135052 (more) 33059505 33083013 34852264
9	PANK2	Pantothenate Kinase 2	Protein Coding	49.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)
10	WDR45	WD Repeat Domain 45	Protein Coding	47.87	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)
11	FTL	Ferritin Light Chain	Protein Coding	46	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)
12	SNCA	Synuclein Alpha	Protein Coding	24.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
13	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	24.07	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
14	CP	Ceruloplasmin	Protein Coding	23.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
15	WIPI1	WD Repeat Domain, Phosphoinositide Interacting 1	Protein Coding	14.64	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
16	SLC39A14	Solute Carrier Family 39 Member 14	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
17	GTPBP2	GTP Binding Protein 2	Protein Coding	14.19	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
18	WIPI2	WD Repeat Domain, Phosphoinositide Interacting 2	Protein Coding	13.88	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
19	ATG2A	Autophagy Related 2A	Protein Coding	13.43	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
20	RB1CC1	RB1 Inducible Coiled-Coil 1	Protein Coding	12.54	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
21	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	12.52	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
22	ATG7	Autophagy Related 7	Protein Coding	12.48	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
23	ATG16L1	Autophagy Related 16 Like 1	Protein Coding	12.48	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
24	ATG5	Autophagy Related 5	Protein Coding	12.47	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
25	ATG12	Autophagy Related 12	Protein Coding	12.42	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
26	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	12.32	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
27	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	12.26	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
28	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	12.24	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
29	ATG14	Autophagy Related 14	Protein Coding	12.22	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
30	BECN1	Beclin 1	Protein Coding	12.13	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
31	ATG3	Autophagy Related 3	Protein Coding	12.11	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
32	ATG13	Autophagy Related 13	Protein Coding	12.06	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
33	ATG101	Autophagy Related 101	Protein Coding	12.02	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
34	ATG10	Autophagy Related 10	Protein Coding	11.89	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
35	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	11.55	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
36	SCP2	Sterol Carrier Protein 2	Protein Coding	11.4	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
37	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	11.02	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
38	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	11	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
39	TSC2	TSC Complex Subunit 2	Protein Coding	10.88	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
40	MAP1LC3A	Microtubule Associated Protein 1 Light Chain 3 Alpha	Protein Coding	10.84	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
41	TSC1	TSC Complex Subunit 1	Protein Coding	10.76	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
42	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	10.54	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
43	ATG4A	Autophagy Related 4A Cysteine Peptidase	Protein Coding	10.45	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
44	PANK1	Pantothenate Kinase 1	Protein Coding	8.61	DISEASES inferred ¹⁴
45	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)
46	AKT1S1	AKT1 Substrate 1	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)
47	DEPTOR	DEP Domain Containing MTOR Interacting Protein	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)
48	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)
49	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)
50	STK11	Serine/Threonine Kinase 11	Protein Coding	7.66	GeneCards inferred via : Pathways & Interactions (show sections)

Sources

Variations for Neurodegeneration with Brain Iron Accumulation

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:

⁵ (show all 22)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRAT	NM_000755.5(CRAT):c.962G>A (p.Arg321His)	SNV	Pathogenic	503495	rs138665095	GRCh37: 9:131862812-131862812 GRCh38: 9:129100533-129100533
2	REPS1	NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu)	SNV	Pathogenic	503504	rs201191394	GRCh37: 6:139266774-139266774 GRCh38: 6:138945637-138945637
3	PLA2G6	NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)	SNV	Pathogenic	1197568		GRCh37: 22:38512163-38512163 GRCh38: 22:38116156-38116156
4	C19orf12	NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)	SNV	Pathogenic	617481	rs752450983	GRCh37: 19:30193884-30193884 GRCh38: 19:29702977-29702977
5	PLA2G6	NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	SNV	Pathogenic	265448	rs530348521	GRCh37: 22:38508566-38508566 GRCh38: 22:38112559-38112559
6	ATP13A2	NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	DEL	Pathogenic	465253	rs765632065	GRCh37: 1:17313567-17313567 GRCh38: 1:16987072-16987072
7	COASY	NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)	SNV	Pathogenic	100662	rs140709867	GRCh37: 17:40717686-40717686 GRCh38: 17:42565668-42565668
8	PLA2G6	NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	SNV	Pathogenic	6199	rs121908683	GRCh37: 22:38511674-38511674 GRCh38: 22:38115667-38115667
9	PLA2G6	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	SNV	Pathogenic	6195	rs121908680	GRCh37: 22:38508219-38508219 GRCh38: 22:38112212-38112212
10	COASY	NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)	DEL	Likely Pathogenic	1722462		GRCh37: 17:40716747-40716748 GRCh38: 17:42564729-42564730
11	ATP13A2	NM_022089.4(ATP13A2):c.477+2T>G	SNV	Likely Pathogenic	546591	rs758014228	GRCh37: 1:17331185-17331185 GRCh38: 1:17004690-17004690
12	C19orf12	NM_001031726.3(C19orf12):c.197_199del	DEL	Likely Pathogenic	88866	rs398122409	GRCh37: 19:30193879-30193881 GRCh38: 19:29702972-29702974
13	COASY	NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)	MICROSAT	Likely Pathogenic	421057	rs560987504	GRCh37: 17:40717494-40717495 GRCh38: 17:42565476-42565477
14	FA2H	NM_024306.5(FA2H):c.806G>A (p.Arg269His)	SNV	Likely Pathogenic	948467	rs1429546236	GRCh37: 16:74750478-74750478 GRCh38: 16:74716580-74716580
15	overlap with 2 genes	NC_000003.11:g.(?_148890285)_(148939833_?)del	DEL	Likely Pathogenic	1704638		GRCh37: 3:148890285-148939833 GRCh38:
16	PLA2G6	NM_003560.4(PLA2G6):c.1294del (p.His432fs)	DEL	Likely Pathogenic	1705054		GRCh37: 22:38524330-38524330 GRCh38: 22:38128323-38128323
17	COASY	NM_025233.7(COASY):c.492del (p.Glu164fs)	DEL	Likely Pathogenic	1698628		GRCh37: 17:40715132-40715132 GRCh38: 17:42563114-42563114
18	PLA2G6	NM_003560.4(PLA2G6):c.1911del (p.Ser637fs)	DEL	Likely Pathogenic	183302	rs730882214	GRCh37: 22:38511657-38511657 GRCh38: 22:38115650-38115650
19	FA2H	NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)	SNV	Likely Pathogenic	458305	rs915291720	GRCh37: 16:74808523-74808523 GRCh38: 16:74774625-74774625
20	PLA2G6	NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)	SNV	Likely Pathogenic	1177288		GRCh37: 22:38508302-38508302 GRCh38: 22:38112295-38112295
21	WDR45	NM_001029896.2(WDR45):c.827+1G>A	SNV	Not Provided	265508	rs1557083958	GRCh37: X:48933022-48933022 GRCh38: X:49075363-49075363
22	PLA2G6	NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)	DEL	Not Provided	6198	rs587784343	GRCh37: 22:38509624-38509626 GRCh38: 22:38113617-38113619

Sources

Expression for Neurodegeneration with Brain Iron Accumulation

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

Sources

Pathways for Neurodegeneration with Brain Iron Accumulation

Pathways related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.28	WIPI2 WIPI1 SNCA RB1CC1 ATG2A
2	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.26	WIPI2 WIPI1 WDR45 RB1CC1
3	Autophagy ⁷⁴ Show member pathways Autophagy during CoV infection ⁷⁴ Host-pathogen interaction of human coronaviruses - autophagy ⁷⁴ Nanoparticle triggered autophagic cell death ⁷⁴ Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway ⁷⁴	11.61	WIPI2 WIPI1 WDR45 RB1CC1 PLA2G6 PANK2
4	Ferroptosis ⁷⁴	10.94	SLC39A14 FTL CP
5	superpathway of coenzyme A biosynthesis III (mammals) ⁶¹ Show member pathways coenzyme A biosynthesis ⁶¹ coenzyme A biosynthesis II (eukaryotic) ⁶¹	10.43	PANK2 COASY

Sources

GO Terms for Neurodegeneration with Brain Iron Accumulation

Cellular components related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extrinsic component of membrane	GO:0019898	9.85	WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
2	autophagosome membrane	GO:0000421	9.73	WIPI1 RB1CC1 ATP13A2
3	phagophore assembly site	GO:0000407	9.65	WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
4	phagophore assembly site membrane	GO:0034045	9.32	WIPI2 WIPI1 WDR45 RB1CC1 ATG2A

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to starvation	GO:0009267	9.99	WIPI2 WIPI1 WDR45
2	cellular iron ion homeostasis	GO:0006879	9.97	FTL CP ATP13A2
3	positive regulation of autophagosome assembly	GO:2000786	9.91	ATG2A WDR45 WIPI1
4	protein localization to phagophore assembly site	GO:0034497	9.88	WIPI2 WIPI1 WDR45
5	iron ion transport	GO:0006826	9.85	SLC39A14 FTL CP
6	protein lipidation	GO:0006497	9.85	WIPI2 WIPI1 WDR45
7	autophagosome assembly	GO:0000045	9.85	WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
8	coenzyme A biosynthetic process	GO:0015937	9.8	COASY PANK2 PANK4
9	piecemeal microautophagy of the nucleus	GO:0034727	9.78	RB1CC1 ATG2A
10	autophagy of nucleus	GO:0044804	9.73	WIPI2 WIPI1 WDR45
11	autophagy of mitochondrion	GO:0000422	9.65	ATG2A RB1CC1 WDR45 WIPI1 WIPI2
12	autophagy	GO:0006914	9.4	WIPI2 WIPI1 WDR45 RB1CC1 C19orf12 ATP13A2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid binding	GO:0008289	9.73	WIPI2 WIPI1 WDR45 SNCA ATP13A2
2	phosphatidylinositol-3-phosphate binding	GO:0032266	9.56	WIPI2 WIPI1 WDR45 ATG2A
3	pantothenate kinase activity	GO:0004594	9.46	PANK4 PANK2
4	phosphatidylinositol-3,5-bisphosphate binding	GO:0080025	9.23	WIPI2 WIPI1 WDR45 ATP13A2

Sources

Sources for Neurodegeneration with Brain Iron Accumulation

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

NBIA MCID: NRD007 MIFTS: 52	Neurodegeneration with Brain Iron Accumulation (NBIA) Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Neurodegeneration with Brain Iron Accumulation (NBIA)

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Neurodegeneration with Brain Iron Accumulation

Related Diseases for Neurodegeneration with Brain Iron Accumulation

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

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

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation:

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation:

GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation:

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation

Drugs for Neurodegeneration with Brain Iron Accumulation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: neurodegeneration with brain iron accumulation

Genetic Tests for Neurodegeneration with Brain Iron Accumulation

Genetic tests related to Neurodegeneration with Brain Iron Accumulation:

Anatomical Context for Neurodegeneration with Brain Iron Accumulation

Organs/tissues related to Neurodegeneration with Brain Iron Accumulation:

Publications for Neurodegeneration with Brain Iron Accumulation

Articles related to Neurodegeneration with Brain Iron Accumulation:

Genes for Neurodegeneration with Brain Iron Accumulation

Genes related to Neurodegeneration with Brain Iron Accumulation (7 elite genes):

Variations for Neurodegeneration with Brain Iron Accumulation

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:

Expression for Neurodegeneration with Brain Iron Accumulation

Pathways for Neurodegeneration with Brain Iron Accumulation

Pathways related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

GO Terms for Neurodegeneration with Brain Iron Accumulation

Cellular components related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

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

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

Sources for Neurodegeneration with Brain Iron Accumulation