MCID: NRD017
MIFTS: 55

Neurodegeneration with Brain Iron Accumulation 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic 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 75 13
Pantothenate Kinase-Associated Neurodegeneration 57 12 76 24 53 25 54 59 75 44 15
Pkan 57 24 53 25 59 75
Hallervorden-Spatz Disease 57 12 53 54 55
Nbia1 57 12 25 59 75
Hallervorden-Spatz Syndrome 12 59 75 73
Pigmentary Pallidal Degeneration 12 29 6
Neurodegeneration with Brain Iron Accumulation Type 1 25 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 75
Brain Iron Accumulation Type I Syndrome 12
Neuroaxonal Dystrophy, Late Infantile 53
Nbia 53
Hss 75

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:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 1

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). PKAN 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)

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, muscle rigidity and muscle spasticity. 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 Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related phenotypes are joint dislocation and depressivity

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.

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.

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. 

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron... 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 all 22)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 31.1 C19orf12 PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 5 30.1 C19orf12 COASY PANK2 PLA2G6
3 neurodegeneration with brain iron accumulation 2a 29.4 C19orf12 COASY FA2H PANK2 PLA2G6
4 neurodegeneration with brain iron accumulation 6 28.6 C19orf12 COASY PANK2 PLA2G6 VPS13A
5 neurodegeneration with brain iron accumulation 26.0 C19orf12 COASY FA2H PANK2 PLA2G6 SNCA
6 hallermann-streiff syndrome 11.2
7 atypical pantothenate kinase-associated neurodegeneration 10.9
8 kufor-rakeb syndrome 10.2 PANK2 PLA2G6
9 hepatitis 10.1
10 neurodegeneration with brain iron accumulation 2b 9.9 FA2H PANK2 PLA2G6
11 neuroaxonal dystrophy 9.9 PANK2 PLA2G6 SNCA
12 tremor 9.9 C19orf12 SNCA
13 movement disease 9.8 PANK2 SNCA
14 3-methylglutaconic aciduria, type iii 9.8 C19orf12 FA2H SNCA
15 hereditary spastic paraplegia 9.6 C19orf12 FA2H PLA2G6
16 aceruloplasminemia 9.5 FA2H PANK2 PLA2G6 SNCA
17 parkinson disease 15, autosomal recessive early-onset 9.5 C19orf12 PANK2 PLA2G6 SNCA
18 choreatic disease 9.4 JPH3 VPS13A
19 choreoacanthocytosis 9.3 JPH3 VPS13A
20 dystonia 9.3 C19orf12 FA2H PANK2 PLA2G6
21 neurodegeneration with brain iron accumulation 3 8.9 C19orf12 FA2H JPH3 PANK2 PLA2G6
22 leukodystrophy, hypomyelinating, 2 8.9 FA2H JPH3 PANK2 VPS13A

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

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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 1:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
11 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
12 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
13 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
14 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
15 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
16 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
17 abnormality of the foot 59 32 frequent (33%) Frequent (79-30%) HP:0001760
18 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
19 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
20 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
21 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
22 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
23 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
24 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
25 abnormality of the cranial nerves 59 32 frequent (33%) Frequent (79-30%) HP:0001291
26 akinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002304
27 obsessive-compulsive trait 59 32 occasional (7.5%) Occasional (29-5%) HP:0008770
28 ataxia 32 HP:0001251
29 neurological speech impairment 59 Very frequent (99-80%)
30 abnormal pyramidal signs 32 HP:0007256
31 global developmental delay 32 HP:0001263
32 optic atrophy 32 HP:0000648
33 feeding difficulties in infancy 32 HP:0008872
34 myopathy 32 HP:0003198
35 decreased muscle mass 32 HP:0003199
36 abnormality of movement 59 Very frequent (99-80%)
37 weight loss 59 Frequent (79-30%)
38 neurodegeneration 32 HP:0002180
39 abnormality of the musculature 59 Occasional (29-5%)
40 obsessive-compulsive behavior 59 Occasional (29-5%)
41 blepharospasm 32 HP:0000643
42 urinary incontinence 32 HP:0000020
43 hyperactivity 32 HP:0000752
44 parkinsonism 32 HP:0001300
45 hyperpigmentation of the skin 32 HP:0000953
46 eyelid apraxia 32 HP:0000658
47 acanthocytosis 32 HP:0001927
48 pigmentary retinopathy 32 HP:0000580
49 retinal degeneration 32 HP:0000546
50 orofacial dyskinesia 32 HP:0002310

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 1:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 FA2H JPH3 PANK2 PLA2G6 SNCA VPS13A
2 nervous system MP:0003631 9.43 FA2H JPH3 PANK2 PLA2G6 SNCA VPS13A
3 reproductive system MP:0005389 9.02 VPS13A JPH3 PANK2 PLA2G6 SNCA

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 3,Phase 2 30652-11-0 2972
2
Iron Approved Phase 3,Phase 2 7439-89-6 23925
3 Chelating Agents Phase 3,Phase 2
4 Iron Chelating Agents Phase 3,Phase 2
5 Pharmaceutical Solutions Phase 3,Phase 2
6 Micronutrients Phase 2
7 Trace Elements Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo oral solution
2 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Completed NCT02174848 Phase 3 Deferiprone oral solution;Deferiprone
3 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
4 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients 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 Compassionate Use of Deferiprone in Patients With PKAN Available NCT02635841 Deferiprone
9 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

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

Publications for Neurodegeneration with Brain Iron Accumulation 1

Articles related to Neurodegeneration with Brain Iron Accumulation 1:

(show top 50) (show all 94)
# Title Authors Year
1
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report. ( 29642163 )
2018
2
Novel Compound Heterozygous PANK2 Gene Mutations in a Chinese Patient with Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 29962256 )
2018
3
First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration. ( 27815806 )
2017
4
Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature. ( 28629633 )
2017
5
Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration. ( 28781879 )
2017
6
Atypical pantothenate kinase-associated neurodegeneration with novel genetic mutation. ( 28681788 )
2017
7
Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 26828840 )
2016
8
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans. ( 26828213 )
2016
9
Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration. ( 25859633 )
2015
10
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. ( 26547561 )
2015
11
Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN) - Prospective study. ( 25724846 )
2015
12
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. ( 25836419 )
2015
13
Changes of cerebral white matter in patients suffering from Pantothenate Kinase-Associated Neurodegeneration (PKAN): AA diffusion tensor imaging (DTI) study. ( 25819806 )
2015
14
Long-lasting isolated freezing of gait with good response to methylphenidate: A patient with pantothenate kinase-associated neurodegeneration. ( 25907032 )
2015
15
Deep brain stimulation for pantothenate kinase-associated neurodegeneration. ( 25802776 )
2015
16
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration. ( 24712887 )
2014
17
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model. ( 24316510 )
2014
18
Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration. ( 24112863 )
2014
19
Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. ( 24689511 )
2014
20
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. ( 24655737 )
2014
21
Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. ( 24661465 )
2014
22
The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration. ( 24424915 )
2014
23
123I-ioflupane SPECT findings of pantothenate kinase-associated neurodegeneration. ( 24999676 )
2014
24
Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration. ( 25337738 )
2014
25
Grey matter alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN). ( 24965278 )
2014
26
Pantothenate kinase-associated neurodegeneration causing paradoxical vocal fold motion. ( 23891325 )
2013
27
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. ( 24075960 )
2013
28
Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review. ( 24348190 )
2013
29
Late onset atypical pantothenate-kinase-associated neurodegeneration. ( 23634310 )
2013
30
Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen. ( 23370589 )
2013
31
A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration. ( 23644322 )
2013
32
Deep brain stimulation improves quality of life in pantothenate kinase-associated neurodegeneration. ( 23772245 )
2013
33
A new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesis. ( 24058333 )
2013
34
Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration? ( 23644319 )
2013
35
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration. ( 23891537 )
2013
36
Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: Six-year follow-up. ( 24123184 )
2013
37
Erratum: A new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesis. ( 24167474 )
2013
38
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. ( 24209433 )
2013
39
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. ( 22930366 )
2013
40
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. ( 22103354 )
2012
41
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties. ( 22692681 )
2012
42
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN). ( 22127788 )
2012
43
Pantothenate - kinase associated neurodegeneration. ( 23029753 )
2012
44
'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration. ( 20882425 )
2011
45
Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation. ( 21166667 )
2011
46
Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration. ( 20717690 )
2011
47
The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. ( 21877312 )
2011
48
Eye-of-the-Tiger sign is not Pathognomonic of Pantothenate Kinase-Associated Neurodegeneration in Adult Cases. ( 22398981 )
2011
49
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations. ( 21442655 )
2011
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. ( 20006850 )
2010

Variations for Neurodegeneration with Brain Iron Accumulation 1

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

75 (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
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 rs1012947103Neurodegeneration
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
30 PANK2 p.Pro570Leu VAR_060949 rs41279408

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

6
(show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 PANK2 NM_153638.3(PANK2): c.927_933delTGTCTTT (p.Phe311Profs) deletion Pathogenic rs879253712 GRCh38 Chromosome 20, 3908224: 3908230
2 PANK2 NM_153638.3(PANK2): c.927_933delTGTCTTT (p.Phe311Profs) deletion Pathogenic rs879253712 GRCh37 Chromosome 20, 3888871: 3888877
3 PANK2 NM_153638.3(PANK2): c.1561G> A (p.Gly521Arg) single nucleotide variant Pathogenic rs137852959 GRCh37 Chromosome 20, 3899342: 3899342
4 PANK2 NM_153638.3(PANK2): c.1561G> A (p.Gly521Arg) single nucleotide variant Pathogenic rs137852959 GRCh38 Chromosome 20, 3918695: 3918695
5 PANK2 NM_153638.3(PANK2): c.570C> G (p.Tyr190Ter) single nucleotide variant Pathogenic rs137852960 GRCh37 Chromosome 20, 3870317: 3870317
6 PANK2 NM_153638.3(PANK2): c.570C> G (p.Tyr190Ter) single nucleotide variant Pathogenic rs137852960 GRCh38 Chromosome 20, 3889670: 3889670
7 PANK2 NM_153638.3(PANK2): c.790C> T (p.Arg264Trp) single nucleotide variant Pathogenic rs137852961 GRCh37 Chromosome 20, 3888734: 3888734
8 PANK2 NM_153638.3(PANK2): c.790C> T (p.Arg264Trp) single nucleotide variant Pathogenic rs137852961 GRCh38 Chromosome 20, 3908087: 3908087
9 PANK2 NM_153638.3(PANK2): c.856C> T (p.Arg286Cys) single nucleotide variant Pathogenic rs137852962 GRCh37 Chromosome 20, 3888800: 3888800
10 PANK2 NM_153638.3(PANK2): c.856C> T (p.Arg286Cys) single nucleotide variant Pathogenic rs137852962 GRCh38 Chromosome 20, 3908153: 3908153
11 PANK2 NM_153638.3(PANK2): c.1412G> A (p.Ser471Asn) single nucleotide variant Pathogenic rs137852963 GRCh37 Chromosome 20, 3893281: 3893281
12 PANK2 NM_153638.3(PANK2): c.1412G> A (p.Ser471Asn) single nucleotide variant Pathogenic rs137852963 GRCh38 Chromosome 20, 3912634: 3912634
13 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 GRCh37 Chromosome 20, 3899364: 3899364
14 PANK2 NM_153638.3(PANK2): c.1583C> T (p.Thr528Met) single nucleotide variant Pathogenic rs137852967 GRCh38 Chromosome 20, 3918717: 3918717
15 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 GRCh37 Chromosome 20, 3897573: 3897573
16 PANK2 NM_153638.3(PANK2): c.1413-1G> T single nucleotide variant Pathogenic rs148987163 GRCh38 Chromosome 20, 3916926: 3916926
17 PANK2 NM_153638.3(PANK2): c.1442_1444delGAG (p.Arg481_Glu482delinsGln) deletion Pathogenic rs766251466 GRCh38 Chromosome 20, 3916956: 3916958
18 PANK2 NM_153638.3(PANK2): c.1442_1444delGAG (p.Arg481_Glu482delinsGln) deletion Pathogenic rs766251466 GRCh37 Chromosome 20, 3897603: 3897605
19 PANK2 NM_153638.3(PANK2): c.533C> A (p.Ser178Ter) single nucleotide variant Pathogenic rs137852969 GRCh37 Chromosome 20, 3870280: 3870280
20 PANK2 NM_153638.3(PANK2): c.533C> A (p.Ser178Ter) single nucleotide variant Pathogenic rs137852969 GRCh38 Chromosome 20, 3889633: 3889633
21 PANK2 NM_153638.3(PANK2): c.332T> A (p.Leu111Gln) single nucleotide variant Benign rs71647828 GRCh37 Chromosome 20, 3870079: 3870079
22 PANK2 NM_153638.3(PANK2): c.332T> A (p.Leu111Gln) single nucleotide variant Benign rs71647828 GRCh38 Chromosome 20, 3889432: 3889432
23 PANK2 NM_153638.3(PANK2): c.1133A> G (p.Asp378Gly) single nucleotide variant Uncertain significance rs562740927 GRCh37 Chromosome 20, 3891375: 3891375
24 PANK2 NM_153638.3(PANK2): c.1133A> G (p.Asp378Gly) single nucleotide variant Uncertain significance rs562740927 GRCh38 Chromosome 20, 3910728: 3910728
25 PANK2 NM_153638.3(PANK2): c.310G> T (p.Glu104Ter) single nucleotide variant Pathogenic rs780551883 GRCh37 Chromosome 20, 3870057: 3870057
26 PANK2 NM_153638.3(PANK2): c.310G> T (p.Glu104Ter) single nucleotide variant Pathogenic rs780551883 GRCh38 Chromosome 20, 3889410: 3889410
27 PANK2 NM_153638.3(PANK2): c.380G> T (p.Gly127Val) single nucleotide variant Benign/Likely benign rs528149001 GRCh37 Chromosome 20, 3870127: 3870127
28 PANK2 NM_153638.3(PANK2): c.380G> T (p.Gly127Val) single nucleotide variant Benign/Likely benign rs528149001 GRCh38 Chromosome 20, 3889480: 3889480
29 PANK2 NM_153638.3(PANK2): c.-11G> A single nucleotide variant Benign/Likely benign rs71647826 GRCh37 Chromosome 20, 3869737: 3869737
30 PANK2 NM_153638.3(PANK2): c.-11G> A single nucleotide variant Benign/Likely benign rs71647826 GRCh38 Chromosome 20, 3889090: 3889090
31 PANK2 NM_153638.3(PANK2): c.54A> G (p.Ser18=) single nucleotide variant Uncertain significance rs886056650 GRCh37 Chromosome 20, 3869801: 3869801
32 PANK2 NM_153638.3(PANK2): c.54A> G (p.Ser18=) single nucleotide variant Uncertain significance rs886056650 GRCh38 Chromosome 20, 3889154: 3889154
33 PANK2 NM_153638.3(PANK2): c.281G> C (p.Arg94Pro) single nucleotide variant Likely benign rs71647827 GRCh37 Chromosome 20, 3870028: 3870028
34 PANK2 NM_153638.3(PANK2): c.281G> C (p.Arg94Pro) single nucleotide variant Likely benign rs71647827 GRCh38 Chromosome 20, 3889381: 3889381
35 PANK2 NM_153638.3(PANK2): c.954G> A (p.Ala318=) single nucleotide variant Uncertain significance rs78631398 GRCh37 Chromosome 20, 3888898: 3888898
36 PANK2 NM_153638.3(PANK2): c.954G> A (p.Ala318=) single nucleotide variant Uncertain significance rs78631398 GRCh38 Chromosome 20, 3908251: 3908251
37 PANK2 NM_153638.3(PANK2): c.*218A> G single nucleotide variant Likely benign rs71647860 GRCh38 Chromosome 20, 3923512: 3923512
38 PANK2 NM_153638.3(PANK2): c.*218A> G single nucleotide variant Likely benign rs71647860 GRCh37 Chromosome 20, 3904159: 3904159
39 PANK2 NM_153638.3(PANK2): c.519C> G (p.Pro173=) single nucleotide variant Likely benign rs71647829 GRCh37 Chromosome 20, 3870266: 3870266
40 PANK2 NM_153638.3(PANK2): c.519C> G (p.Pro173=) single nucleotide variant Likely benign rs71647829 GRCh38 Chromosome 20, 3889619: 3889619
41 PANK2 NM_153638.3(PANK2): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs886056652 GRCh38 Chromosome 20, 3923265: 3923265
42 PANK2 NM_153638.3(PANK2): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs886056652 GRCh37 Chromosome 20, 3903912: 3903912
43 PANK2 NM_153638.3(PANK2): c.*63dupT duplication Likely benign rs886056653 GRCh38 Chromosome 20, 3923357: 3923357
44 PANK2 NM_153638.3(PANK2): c.*63dupT duplication Likely benign rs886056653 GRCh37 Chromosome 20, 3904004: 3904004
45 PANK2 NM_153638.3(PANK2): c.*382C> T single nucleotide variant Uncertain significance rs71647861 GRCh38 Chromosome 20, 3923676: 3923676
46 PANK2 NM_153638.3(PANK2): c.*382C> T single nucleotide variant Uncertain significance rs71647861 GRCh37 Chromosome 20, 3904323: 3904323
47 PANK2 NM_153638.3(PANK2): c.272C> T (p.Pro91Leu) single nucleotide variant Uncertain significance rs757651957 GRCh37 Chromosome 20, 3870019: 3870019
48 PANK2 NM_153638.3(PANK2): c.272C> T (p.Pro91Leu) single nucleotide variant Uncertain significance rs757651957 GRCh38 Chromosome 20, 3889372: 3889372
49 PANK2 NM_153638.3(PANK2): c.*376A> G single nucleotide variant Uncertain significance rs746515620 GRCh38 Chromosome 20, 3923670: 3923670
50 PANK2 NM_153638.3(PANK2): c.*376A> G single nucleotide variant Uncertain significance rs746515620 GRCh37 Chromosome 20, 3904317: 3904317

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 COASY PANK2

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 mitochondrion GO:0005739 9.02 C19orf12 COASY PANK2 PLA2G6 SNCA
2 mitochondrial intermembrane space GO:0005758 8.96 PANK2 SNCA

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

# Name GO ID Score Top Affiliating Genes
1 memory GO:0007613 9.26 JPH3 PLA2G6
2 regulation of neuronal synaptic plasticity GO:0048168 9.16 JPH3 SNCA
3 coenzyme A biosynthetic process GO:0015937 8.96 COASY PANK2
4 coenzyme biosynthetic process GO:0009108 8.62 COASY PANK2

Sources for Neurodegeneration with Brain Iron Accumulation 1

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