NBIA1
MCID: NRD017
MIFTS: 58

Neurodegeneration with Brain Iron Accumulation 1 (NBIA1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 1

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 1:

Name: Neurodegeneration with Brain Iron Accumulation 1 57 12 74 29 13
Pantothenate Kinase-Associated Neurodegeneration 57 12 75 24 53 25 54 59 74 37 44 15
Hallervorden-Spatz Disease 57 12 53 54 55 33
Pkan 57 24 53 25 59 74
Nbia1 57 12 25 59 74
Hallervorden-Spatz Syndrome 12 59 74 72
Pigmentary Pallidal Degeneration 12 29 6
Neurodegeneration with Brain Iron Accumulation Type 1 25 59
Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form 59
Neurodegeneration with Brain Iron Accumulation Type 1, Classic Form 59
Atypical Pantothenate Kinase-Associated Neurodegeneration 59
Classic Pantothenate Kinase-Associated Neurodegeneration 59
Neurodegeneration, with Brain Iron Accumulation, Type 1 40
Pantothenate Kinase-Associated Neurodegeneration; Pkan 57
Neurodegeneration with Brain Iron Accumulation 53
Pkan Neuroaxonal Dystrophy, Juvenile-Onset 57
Pkan Neuroaxonal Dystrophy Juvenile-Onset 74
Brain Iron Accumulation Type I Syndrome 12
Neuroaxonal Dystrophy, Late Infantile 53
Nbia1, Atypical Form 59
Nbia1, Classic Form 59
Pkan, Atypical Form 59
Pkan, Classic Form 59
Nbia 53
Hss 74

Characteristics:

Orphanet epidemiological data:

59
pantothenate kinase-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
clinically classified into classic, atypical, and intermediate phenotypes
classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later
intermediate: onset in first decade with slow progression or onset in second decade with rapid progression
allelic to the less severe harp syndrome (), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
similar to infantile neuroaxonal dystrophy (inad, )


HPO:

32
neurodegeneration with brain iron accumulation 1:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:3981
KEGG 37 H02208
MeSH 44 D006211
NCIt 50 C84988 C8967
SNOMED-CT 68 2992000
ICD10 33 G23.0
MESH via Orphanet 45 D006211
ICD10 via Orphanet 34 G23.0
UMLS via Orphanet 73 C0018523
MedGen 42 C0018523
UMLS 72 C0018523

Summaries for Neurodegeneration with Brain Iron Accumulation 1

Genetics Home Reference : 25 Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression. Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems. A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 1, also known as pantothenate kinase-associated neurodegeneration, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation 5, and has symptoms including ataxia, tremor and involuntary movements. An important gene associated with Neurodegeneration with Brain Iron Accumulation 1 is PANK2 (Pantothenate Kinase 2), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. The drugs Deferiprone and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related phenotypes are gait disturbance and iris hypopigmentation

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.

NIH Rare Diseases : 53 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease characterized by a progressive degeneration of the nervous system (neurodegenerative disorder) and buildup of iron in the brain. PKAN is usually classified into two forms: classic and atypical. Classic PKAN causes symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates a buildup of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by mutations in the PANK2 gene. Treatment depends on the symptoms, and may include medication (such as botulinum toxin), surgery, deep brain stimulation and physical therapy. Research for a more effective treatment is ongoing.

OMIM : 57 Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009). Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005). Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene. Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation. In addition, some patients with Kufor-Rakeb syndrome (606693), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. (234200)

NINDS : 54 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.  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), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia.  Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration).  Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.  Several genes have been found that cause NBIA.

KEGG : 37
Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients.

UniProtKB/Swiss-Prot : 74 Neurodegeneration with brain iron accumulation 1: Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.

Wikipedia : 75 Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a... more...

GeneReviews: NBK1490

Related Diseases for Neurodegeneration with Brain Iron Accumulation 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 197)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 31.7 PLA2G6 PANK2 C19orf12
2 neurodegeneration with brain iron accumulation 5 31.0 PLA2G6 PANK2 COASY C19orf12
3 kufor-rakeb syndrome 30.9 PLA2G6 PANK2
4 tremor 30.7 SNCA C19orf12
5 movement disease 30.6 SNCA PANK2
6 choreoacanthocytosis 30.3 XK VPS13A
7 neurodegeneration with brain iron accumulation 6 30.2 VPS13A PLA2G6 PANK2 COASY C19orf12
8 mcleod syndrome 30.1 XK VPS13A
9 neurodegeneration with brain iron accumulation 2b 30.0 PLA2G6 PANK2 FA2H
10 neuroaxonal dystrophy 30.0 PLA2G6 PANK2 FA2H
11 3-methylglutaconic aciduria, type iii 30.0 SNCA FA2H C19orf12
12 dystonia 29.8 PLA2G6 PANK2 FA2H C19orf12
13 neurodegeneration with brain iron accumulation 2a 29.8 PLA2G6 PANK2 FA2H
14 neurodegeneration with brain iron accumulation 3 29.5 PLA2G6 PANK2 FA2H C19orf12
15 hereditary spastic paraplegia 29.3 PLA2G6 FA2H C19orf12
16 aceruloplasminemia 28.9 SNCA PLA2G6 PANK2 FA2H
17 neurodegeneration with brain iron accumulation 26.8 VPS13A SNCA PLA2G6 PANK2 FA2H COASY
18 neurodegeneration with brain iron accumulation 7 13.1
19 neurodegeneration with brain iron accumulation 8 13.1
20 coasy protein-associated neurodegeneration 12.3
21 nbia/dyt/park-pla2g6 12.2
22 woodhouse-sakati syndrome 11.8
23 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 11.7
24 karak syndrome 11.7
25 spastic paraplegia 35, autosomal recessive 11.6
26 hallermann-streiff syndrome 11.6
27 striatonigral degeneration, infantile 11.4
28 hypotrichosis simplex 11.3
29 retinal degeneration 10.6
30 spasticity 10.5
31 ferro-cerebro-cutaneous syndrome 10.5
32 amyotrophic lateral sclerosis 1 10.5
33 huntington disease 10.5
34 lateral sclerosis 10.5
35 retinitis pigmentosa 10.5
36 neuroretinitis 10.4
37 retinitis 10.4
38 leukodystrophy 10.4
39 spastic diplegia 10.4
40 dementia 10.4
41 psychotic disorder 10.4
42 encephalitis 10.4
43 cerebral atrophy 10.4
44 down syndrome 10.4
45 ataxia and polyneuropathy, adult-onset 10.4
46 autosomal recessive disease 10.4
47 oromandibular dystonia 10.4
48 hemosiderosis 10.4
49 mitochondrial membrane protein-associated neurodegeneration 10.4
50 chromosomal triplication 10.4

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 1:



Diseases related to Neurodegeneration with Brain Iron Accumulation 1

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 1

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 1:

59 32 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Occasional (29-5%) HP:0001288
2 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
3 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
4 depressivity 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000716
5 spasticity 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001257
6 dysarthria 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001260
7 tremor 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001337
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001347
9 dysphagia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0002015
10 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
11 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
12 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
13 cognitive impairment 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0100543
14 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
15 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
16 abnormality of the foot 59 32 frequent (33%) Frequent (79-30%) HP:0001760
17 inability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0002540
18 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
19 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
20 rigidity 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002063
21 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
22 rod-cone dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000510
23 optic disc pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000543
24 abnormality of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000157
25 frequent falls 59 32 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0002359
26 generalized dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0007325
27 impulsivity 59 32 frequent (33%) Frequent (79-30%) HP:0100710
28 iron accumulation in brain 59 32 frequent (33%) Frequent (79-30%) HP:0012675
29 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
30 increased susceptibility to fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002659
31 abnormal posturing 59 32 frequent (33%) Frequent (79-30%) HP:0002533
32 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
33 eye of the tiger anomaly of globus pallidus 59 32 frequent (33%) Frequent (79-30%) HP:0002454
34 violent behavior 59 32 frequent (33%) Frequent (79-30%) HP:0008760
35 pigmentary retinopathy 32 frequent (33%) HP:0000580
36 abnormal cranial nerve morphology 32 frequent (33%) HP:0001291
37 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
38 seizures 59 32 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0001250
39 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
40 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
41 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
42 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
43 abnormal pyramidal sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
44 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
45 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
46 weight loss 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001824
47 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
48 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
49 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
50 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
tremor
dystonia
more
Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Muscle Soft Tissue:
decreased muscle mass
myopathic changes on pathology

Head And Neck Face:
facial grimacing

Skeletal Feet:
foot deformity

Voice:
dysphonia

Head And Neck Eyes:
optic atrophy
blepharospasm
retinal degeneration
pigmentary retinopathy (more common in classic disease)
apraxia of eyelid opening

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
obsessive-compulsive trait
depression
behavioral problems
psychiatric abnormalities (more common in patients with atypical disease and slow progression)

Genitourinary Bladder:
incontinence

Skin Nails Hair Skin:
skin pigmentation

Clinical features from OMIM:

234200

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 1:


ataxia, tremor, involuntary movements, muscle rigidity, muscle spasticity, stiffness, tic, motor

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 FA2H PANK2 PLA2G6 SNCA VPS13A XK
2 reproductive system MP:0005389 9.02 PANK2 PLA2G6 SNCA VPS13A XK

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 1

Drugs for Neurodegeneration with Brain Iron Accumulation 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 3 30652-11-0 2972
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 3 79-83-4 6613
4 Pharmaceutical Solutions Phase 3
5 Chelating Agents Phase 3
6 Iron Chelating Agents Phase 3
7 Vitamins Phase 3
8 Vitamin B9 Phase 3
9 Vitamin B Complex Phase 3
10 Folate Phase 3
11
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
12 Micronutrients
13 Trace Elements
14 Nutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Safety and Efficacy Study of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN) Completed NCT02174848 Phase 3 Deferiprone oral solution
2 A Randomized, Double-blind, Placebo-controlled Trial of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo
3 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
4 Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), A Phosphopantothenate Replacement Therapy, in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Patients: A Randomized, Double Blind, Placebo Controlled Study With an Open Label Extension Active, not recruiting NCT03041116 Phase 3 fosmetpantotenate (RE-024);Placebo
5 Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
6 Brain Perfusion in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Completed NCT01838018
7 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
8 Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy Recruiting NCT04027816
9 The Compassionate Use of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration Available NCT02635841 Deferiprone
10 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 1

Cochrane evidence based reviews: pantothenate kinase-associated neurodegeneration

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 1

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 1:

# Genetic test Affiliating Genes
1 Pigmentary Pallidal Degeneration 29 PANK2
2 Neurodegeneration with Brain Iron Accumulation 1 29

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 1

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 1:

41
Brain, Eye, Skin, Globus Pallidus, Tongue, Testes

Publications for Neurodegeneration with Brain Iron Accumulation 1

Articles related to Neurodegeneration with Brain Iron Accumulation 1:

(show top 50) (show all 318)
# Title Authors PMID Year
1
A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. 9 38 4 8 71
16240131 2005
2
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 9 4 8 71
11479594 2001
3
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 9 38 8 71
12510040 2003
4
Syndromes of neurodegeneration with brain iron accumulation. 38 8 71
22704258 2012
5
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. 9 38 8
15911822 2005
6
Hallervorden and history. 4 8
12510036 2003
7
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 38 8
18981035 2009
8
Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. 9 38 4
16272150 2006
9
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. 38 8
15525657 2005
10
[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene. 9 8
15642932 2005
11
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. 9 71
14638969 2003
12
Pantothenate Kinase-Associated Neurodegeneration 38 71
20301663 2002
13
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 8
29395073 2018
14
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). 38 4
28034613 2017
15
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. 38 4
26547561 2015
16
Deep brain stimulation for pantothenate kinase-associated neurodegeneration. 38 4
25802776 2015
17
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. 38 4
25915509 2015
18
Does lesioning surgery have a role in the management of multietiological tremor in the era of Deep Brain Stimulation? 38 4
25128653 2014
19
Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. 38 4
23968566 2013
20
Neurodegeneration with Brain Iron Accumulation Disorders Overview 71
23447832 2013
21
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 38 4
23269600 2013
22
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN). 38 4
22127788 2012
23
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. 38 4
22103354 2012
24
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. 38 4
21557313 2011
25
The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. 38 4
21877312 2011
26
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. 38 4
21459825 2011
27
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. 38 4
17493025 2007
28
The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation. 8
16476823 2006
29
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. 8
16437574 2006
30
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). 38 4
16023068 2005
31
Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. 38 4
15465096 2004
32
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. 38 4
12058097 2002
33
Hallervorden-Spatz syndrome. 9 4
11551740 2001
34
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. 8
8944032 1996
35
Myopathic involvement in two cases of Hallervorden-Spatz disease. 8
7503394 1995
36
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). 71
7898702 1995
37
Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome. 8
7885538 1994
38
Julius Hallervorden. 8
8327163 1993
39
Racial hygiene, active euthanasia, and Julius Hallervorden. 8
1436542 1992
40
Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. 8
1447570 1992
41
Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. 8
3202617 1988
42
MR imaging in a case of Hallervorden-Spatz disease. 8
3680689 1987
43
MR imaging of Hallervorden-Spatz disease. 8
3989044 1985
44
Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. 8
3969211 1985
45
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. 8
7158329 1982
46
Hallervorden-Spatz disease. 8
477009 1979
47
Basal ganglia calcification in a case of PKAN. 4
28024710 2017
48
Adult onset Hallervorden-Spatz disease with psychotic symptoms. 4
21769749 2011
49
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. 4
20310007 2010
50
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings. 9 38
20006850 2010

Variations for Neurodegeneration with Brain Iron Accumulation 1

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 1:

6 (show top 50) (show all 69)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PANK2 NM_153638.3(PANK2): c.1235+1G> T single nucleotide variant Pathogenic rs1135401789 20:3891478-3891478 20:3910831-3910831
2 PANK2 NM_153638.3(PANK2): c.936T> A (p.Cys312Ter) single nucleotide variant Pathogenic rs1555787799 20:3888880-3888880 20:3908233-3908233
3 PANK2 NM_153638.3(PANK2): c.1176_1177del (p.Gly393_Val394insTer) deletion Pathogenic rs778550409 20:3891418-3891419 20:3910771-3910772
4 PANK2 NM_153638.3(PANK2): c.680A> G (p.Tyr227Cys) single nucleotide variant Pathogenic rs1555787646 20:3888624-3888624 20:3907977-3907977
5 PANK2 NC_000020.10: g.(?_3869728)_(3893301_?)del deletion Pathogenic 20:3869728-3893301 20:3889081-3912654
6 PANK2 NM_153638.3(PANK2): c.1236-2A> C single nucleotide variant Pathogenic rs1261714833 20:3893103-3893103 20:3912456-3912456
7 PANK2 NM_153638.3(PANK2): c.1250_1251dup (p.Phe418fs) duplication Pathogenic rs1555788619 20:3893119-3893120 20:3912472-3912473
8 PANK2 NM_153638.3(PANK2): c.930_936del (p.Phe311fs) deletion Pathogenic rs879253712 20:3888871-3888877 20:3908224-3908230
9 PANK2 NM_153638.3(PANK2): c.1561G> A (p.Gly521Arg) single nucleotide variant Pathogenic rs137852959 20:3899342-3899342 20:3918695-3918695
10 PANK2 NM_153638.3(PANK2): c.570C> G (p.Tyr190Ter) single nucleotide variant Pathogenic rs137852960 20:3870317-3870317 20:3889670-3889670
11 PANK2 NM_153638.3(PANK2): c.790C> T (p.Arg264Trp) single nucleotide variant Pathogenic rs137852961 20:3888734-3888734 20:3908087-3908087
12 PANK2 NM_153638.3(PANK2): c.856C> T (p.Arg286Cys) single nucleotide variant Pathogenic rs137852962 20:3888800-3888800 20:3908153-3908153
13 PANK2 NM_153638.3(PANK2): c.1412G> A (p.Ser471Asn) single nucleotide variant Pathogenic rs137852963 20:3893281-3893281 20:3912634-3912634
14 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 20:3899364-3899364 20:3918717-3918717
15 PANK2 NM_153638.3(PANK2): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs137852968 20:3897602-3897602 20:3916955-3916955
16 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 20:3897573-3897573 20:3916926-3916926
17 PANK2 NM_153638.3(PANK2): c.1442_1444del (p.Arg481_Glu482delinsGln) deletion Pathogenic rs766251466 20:3897603-3897605 20:3916956-3916958
18 PANK2 NM_153638.3(PANK2): c.533C> A (p.Ser178Ter) single nucleotide variant Pathogenic rs137852969 20:3870280-3870280 20:3889633-3889633
19 PANK2 NM_153638.3(PANK2): c.1426_1429del (p.Met476fs) deletion Pathogenic rs1555789557 20:3897587-3897590 20:3916940-3916943
20 PANK2 NM_153638.3(PANK2): c.909del (p.Phe304fs) deletion Pathogenic 20:3888853-3888853 20:3908206-3908206
21 PANK2 NM_153638.3(PANK2): c.1257del (p.Phe419fs) deletion Pathogenic 20:3893126-3893126 20:3912479-3912479
22 PANK2 NM_153638.3(PANK2): c.1097del (p.Pro366fs) deletion Pathogenic 20:3891339-3891339 20:3910692-3910692
23 PANK2 NM_153638.3(PANK2): c.126del (p.Arg44fs) deletion Pathogenic 20:3869873-3869873 20:3889226-3889226
24 PANK2 NM_153638.3(PANK2): c.851_855dup (p.Arg286fs) duplication Pathogenic 20:3888794-3888795 20:3908148-3908152
25 PANK2 NM_153638.3(PANK2): c.1211A> T (p.Asn404Ile) single nucleotide variant Pathogenic 20:3891453-3891453 20:3910806-3910806
26 PANK2 NM_153638.3(PANK2): c.1585A> G (p.Ile529Val) single nucleotide variant Likely pathogenic 20:3899366-3899366 20:3918719-3918719
27 PANK2 NM_153638.3(PANK2): c.1412+1G> C single nucleotide variant Likely pathogenic 20:3893282-3893282 20:3912635-3912635
28 PANK2 NM_153638.3(PANK2): c.*40G> C single nucleotide variant Likely pathogenic rs1131692166 20:3903981-3903981 20:3923334-3923334
29 PANK2 NM_153638.3(PANK2): c.137A> T (p.Asp46Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148036492 20:3869884-3869884 20:3889237-3889237
30 PANK2 NM_153638.3(PANK2): c.644G> A (p.Gly215Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs762879569 20:3888588-3888588 20:3907941-3907941
31 PANK2 NM_153638.3(PANK2): c.1133A> G (p.Asp378Gly) single nucleotide variant Uncertain significance rs562740927 20:3891375-3891375 20:3910728-3910728
32 PANK2 NM_153638.3(PANK2): c.54A> G (p.Ser18=) single nucleotide variant Uncertain significance rs886056650 20:3869801-3869801 20:3889154-3889154
33 PANK2 NM_153638.3(PANK2): c.954G> A (p.Ala318=) single nucleotide variant Uncertain significance rs78631398 20:3888898-3888898 20:3908251-3908251
34 PANK2 NM_153638.3(PANK2): c.*382C> T single nucleotide variant Uncertain significance rs71647861 20:3904323-3904323 20:3923676-3923676
35 PANK2 NM_153638.3(PANK2): c.272C> T (p.Pro91Leu) single nucleotide variant Uncertain significance rs757651957 20:3870019-3870019 20:3889372-3889372
36 PANK2 NM_153638.3(PANK2): c.*376A> G single nucleotide variant Uncertain significance rs746515620 20:3904317-3904317 20:3923670-3923670
37 PANK2 NM_153638.3(PANK2): c.*407A> G single nucleotide variant Uncertain significance rs886056654 20:3904348-3904348 20:3923701-3923701
38 PANK2 NM_153638.3(PANK2): c.628+15G> C single nucleotide variant Uncertain significance rs566953264 20:3870390-3870390 20:3889743-3889743
39 PANK2 NM_153638.3(PANK2): c.1318C> T (p.Arg440Cys) single nucleotide variant Uncertain significance rs201329683 20:3893187-3893187 20:3912540-3912540
40 PANK2 NM_153638.3(PANK2): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs886056652 20:3903912-3903912 20:3923265-3923265
41 PANK2 NM_153638.3(PANK2): c.*541C> T single nucleotide variant Uncertain significance rs886056655 20:3904482-3904482 20:3923835-3923835
42 PANK2 NM_153638.3(PANK2): c.1537-3C> G single nucleotide variant Uncertain significance 20:3899315-3899315 20:3918668-3918668
43 PANK2 NM_153638.3(PANK2): c.1593G> A (p.Met531Ile) single nucleotide variant Uncertain significance 20:3899374-3899374 20:3918727-3918727
44 PANK2 NM_153638.3(PANK2): c.545C> A (p.Thr182Lys) single nucleotide variant Uncertain significance 20:3870292-3870292 20:3889645-3889645
45 PANK2 NM_153638.3(PANK2): c.563G> C (p.Gly188Ala) single nucleotide variant Uncertain significance 20:3870310-3870310 20:3889663-3889663
46 PANK2 NM_153638.3(PANK2): c.805G> A (p.Glu269Lys) single nucleotide variant Uncertain significance 20:3888749-3888749 20:3908102-3908102
47 PANK2 NM_153638.3(PANK2): c.1340A> G (p.Asp447Gly) single nucleotide variant Uncertain significance 20:3893209-3893209 20:3912562-3912562
48 PANK2 NM_153638.3(PANK2): c.1709C> T (p.Pro570Leu) single nucleotide variant Uncertain significance 20:3903937-3903937 20:3923290-3923290
49 PANK2 NM_153638.3(PANK2): c.1442G> C (p.Arg481Pro) single nucleotide variant Uncertain significance 20:3897603-3897603 20:3916956-3916956
50 PANK2 NM_153638.3(PANK2): c.37T> C (p.Trp13Arg) single nucleotide variant Uncertain significance 20:3869784-3869784 20:3889137-3889137

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 1:

74 (show all 30)
# Symbol AA change Variation ID SNP ID
1 PANK2 p.Gly219Val VAR_015154
2 PANK2 p.Thr234Ala VAR_015155 rs137852965
3 PANK2 p.Arg264Trp VAR_015156 rs137852961
4 PANK2 p.Arg278Cys VAR_015157 rs137852966
5 PANK2 p.Leu282Val VAR_015158
6 PANK2 p.Arg286Cys VAR_015159 rs137852962
7 PANK2 p.Thr327Ile VAR_015160
8 PANK2 p.Ser351Pro VAR_015161 rs137852964
9 PANK2 p.Asn355Ser VAR_015162 rs746484727
10 PANK2 p.Asn404Ile VAR_015163 rs752078407
11 PANK2 p.Leu413Pro VAR_015164 rs750176786
12 PANK2 p.Ser471Asn VAR_015165 rs137852963
13 PANK2 p.Ile497Thr VAR_015166
14 PANK2 p.Asn500Ile VAR_015167 rs759332123
15 PANK2 p.Gly521Arg VAR_015168 rs137852959
16 PANK2 p.Glu134Gly VAR_060934 rs765679726
17 PANK2 p.Arg249Pro VAR_060935
18 PANK2 p.Arg278Leu VAR_060936 rs134876220
19 PANK2 p.Glu322Asp VAR_060937 rs974575417
20 PANK2 p.Glu322Gly VAR_060938 rs768230831
21 PANK2 p.Arg357Gln VAR_060939 rs754521581
22 PANK2 p.Ala398Thr VAR_060940 rs759223327
23 PANK2 p.Cys428Tyr VAR_060942 rs101294710
24 PANK2 p.Asp447Asn VAR_060943
25 PANK2 p.Ile501Thr VAR_060944 rs775459398
26 PANK2 p.Ala509Val VAR_060945
27 PANK2 p.Asn511Asp VAR_060946 rs767653843
28 PANK2 p.Arg532Trp VAR_060947
29 PANK2 p.Leu563Pro VAR_060948 rs132407757
30 PANK2 p.Pro570Leu VAR_060949 rs41279408

Expression for Neurodegeneration with Brain Iron Accumulation 1

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 1.

Pathways for Neurodegeneration with Brain Iron Accumulation 1

Pathways related to Neurodegeneration with Brain Iron Accumulation 1 according to KEGG:

37
# Name Kegg Source Accession
1 Pantothenate and CoA biosynthesis hsa00770

Pathways related to Neurodegeneration with Brain Iron Accumulation 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 PANK2 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 1

Cellular components related to Neurodegeneration with Brain Iron Accumulation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 VPS13A SNCA PLA2G6 PANK2 NUDT19 COASY
2 mitochondrial intermembrane space GO:0005758 9.16 SNCA PANK2
3 mitochondrion GO:0005739 9.02 SNCA PLA2G6 PANK2 COASY C19orf12

Biological processes related to Neurodegeneration with Brain Iron Accumulation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coenzyme A biosynthetic process GO:0015937 8.96 PANK2 COASY
2 coenzyme biosynthetic process GO:0009108 8.62 PANK2 COASY

Sources for Neurodegeneration with Brain Iron Accumulation 1

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