NBIA1
MCID: NRD017
MIFTS: 56

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 58 12 76 13
Pantothenate Kinase-Associated Neurodegeneration 58 12 77 25 54 26 55 60 76 38 45 15
Pkan 58 25 54 26 60 76
Hallervorden-Spatz Disease 58 12 54 55 56
Nbia1 58 12 26 60 76
Hallervorden-Spatz Syndrome 12 60 76 74
Pigmentary Pallidal Degeneration 12 30 6
Neurodegeneration with Brain Iron Accumulation Type 1 26 60
Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form 60
Atypical Pantothenate Kinase-Associated Neurodegeneration 60
Neurodegeneration, with Brain Iron Accumulation, Type 1 41
Pantothenate Kinase-Associated Neurodegeneration; Pkan 58
Neurodegeneration with Brain Iron Accumulation 54
Pkan Neuroaxonal Dystrophy, Juvenile-Onset 58
Pkan Neuroaxonal Dystrophy Juvenile-Onset 76
Brain Iron Accumulation Type I Syndrome 12
Neuroaxonal Dystrophy, Late Infantile 54
Nbia1, Atypical Form 60
Pkan, Atypical Form 60
Nbia 54
Hss 76

Characteristics:

Orphanet epidemiological data:

60
pantothenate kinase-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

58
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:

33
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 : 58 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)

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 choreoacanthocytosis, 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 Iron 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.

Genetics Home Reference : 26 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 : 54 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 : 55 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 : 76 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 : 77 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 76)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 31.6 C19orf12 PANK2 PLA2G6
2 choreoacanthocytosis 31.5 VPS13A XK
3 neurodegeneration with brain iron accumulation 5 31.2 C19orf12 COASY PANK2 PLA2G6
4 kufor-rakeb syndrome 30.7 PANK2 PLA2G6
5 tremor 30.6 C19orf12 SNCA
6 neurodegeneration with brain iron accumulation 6 30.5 C19orf12 COASY PANK2 PLA2G6 VPS13A
7 neurodegeneration with brain iron accumulation 2b 30.3 FA2H PANK2 PLA2G6
8 dystonia 30.0 C19orf12 FA2H PANK2 PLA2G6
9 neurodegeneration with brain iron accumulation 3 30.0 C19orf12 FA2H PANK2 PLA2G6
10 aceruloplasminemia 30.0 FA2H PANK2 PLA2G6 SNCA
11 neurodegeneration with brain iron accumulation 2a 29.9 FA2H PANK2 PLA2G6
12 neuroaxonal dystrophy 29.9 FA2H PANK2 PLA2G6
13 3-methylglutaconic aciduria, type iii 29.9 C19orf12 FA2H SNCA
14 neurodegeneration with brain iron accumulation 28.1 C19orf12 COASY FA2H PANK2 PLA2G6 SNCA
15 neurodegeneration with brain iron accumulation 7 12.9
16 neurodegeneration with brain iron accumulation 8 12.9
17 coasy protein-associated neurodegeneration 12.2
18 nbia/dyt/park-pla2g6 12.1
19 mitochondrial membrane protein-associated neurodegeneration 11.9
20 karak syndrome 11.6
21 hallermann-streiff syndrome 11.4
22 striatonigral degeneration, infantile 11.3
23 down syndrome 10.4
24 spastic paraplegia 35, autosomal recessive 10.4
25 ferro-cerebro-cutaneous syndrome 10.4
26 amyotrophic lateral sclerosis 1 10.3
27 schizophrenia 10.3
28 ceroid storage disease 10.3
29 supranuclear palsy, progressive, 1 10.3
30 dementia 10.3
31 neuroleptic malignant syndrome 10.3
32 lateral sclerosis 10.3
33 psychotic disorder 10.3
34 basal ganglia disease 10.3
35 encephalitis 10.3
36 megalencephaly 10.3
37 rheumatic encephalitis 10.3
38 dystonia 12 10.3
39 niemann-pick disease 10.3
40 superior mesenteric artery syndrome 10.3
41 seizure disorder 10.3
42 dysphagia 10.2
43 gilles de la tourette syndrome 10.2
44 abetalipoproteinemia 10.2
45 retinitis pigmentosa 10.2
46 leber congenital amaurosis 4 10.2
47 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 10.2
48 oromandibular dystonia 10.2
49 basal ganglia calcification 10.2
50 choreatic disease 10.2

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:

60 33 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001288
2 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
3 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
4 depressivity 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000716
5 spasticity 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001257
6 dysarthria 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001260
7 tremor 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001337
8 hyperreflexia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001347
9 dysphagia 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002015
10 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
11 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
12 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
13 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
14 abnormality of the foot 60 33 frequent (33%) Frequent (79-30%) HP:0001760
15 rigidity 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002063
16 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
17 impulsivity 60 33 frequent (33%) Frequent (79-30%) HP:0100710
18 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
19 limb dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002451
20 violent behavior 60 33 frequent (33%) Frequent (79-30%) HP:0008760
21 abnormal cranial nerve morphology 33 frequent (33%) HP:0001291
22 joint dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001373
23 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
24 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
25 dysphonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001618
26 chorea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002072
27 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
28 abnormal pyramidal sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0007256
29 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
30 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
31 cachexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004326
32 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
33 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000722
34 oromandibular dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012048
35 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
36 bradykinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002067
37 akinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002304
38 obsessive-compulsive trait 60 33 occasional (7.5%) Occasional (29-5%) HP:0008770
39 inertia 60 33 occasional (7.5%) Occasional (29-5%) HP:0030216
40 optic atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000648
41 blindness 60 33 very rare (1%) Very rare (<4-1%) HP:0000618
42 retinopathy 60 33 very rare (1%) Very rare (<4-1%) HP:0000488
43 psychosis 60 33 very rare (1%) Very rare (<4-1%) HP:0000709
44 clumsiness 60 33 very rare (1%) Very rare (<4-1%) HP:0002312
45 frequent falls 60 33 very rare (1%) Very rare (<4-1%) HP:0002359
46 tongue atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0012473
47 ataxia 33 HP:0001251
48 neurological speech impairment 60 Very frequent (99-80%),Occasional (29-5%)
49 global developmental delay 33 HP:0001263
50 feeding difficulties in infancy 33 HP:0008872

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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,Phase 2 30652-11-0 2972
2
Iron Approved, Experimental Phase 3,Phase 2 7439-89-6, 15438-31-0 27284 23925
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
4
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 3 79-83-4 6613
5 Chelating Agents Phase 3,Phase 2
6 Iron Chelating Agents Phase 3,Phase 2
7 Pharmaceutical Solutions Phase 3,Phase 2
8 Micronutrients Phase 3,Phase 2
9 Nutrients Phase 3,Phase 2
10 Trace Elements Phase 3,Phase 2
11 Vitamin B Complex Phase 3
12 Vitamin B9 Phase 3
13 Folate Phase 3
14 Vitamins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Completed NCT02174848 Phase 3 Deferiprone oral solution;Deferiprone
2 Efficacy and Safety Study 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 in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
4 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients 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 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 30 PANK2

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 1

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

42
Brain, Eye, Skin, Globus Pallidus, Tongue

Publications for Neurodegeneration with Brain Iron Accumulation 1

Articles related to Neurodegeneration with Brain Iron Accumulation 1:

(show top 50) (show all 160)
# Title Authors Year
1
Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation. ( 30173408 )
2019
2
Magnetic resonance imaging, susceptibility weighted imaging and quantitative susceptibility mapping findings of pantothenate kinase-associated neurodegeneration. ( 30392836 )
2019
3
Dental appliance therapy in pantothenate kinase-associated neurodegeneration: Case report. ( 30418671 )
2019
4
Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis. ( 30633810 )
2019
5
Precision medicine in pantothenate kinase-associated neurodegeneration. ( 30804242 )
2019
6
A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. ( 30838313 )
2019
7
Status dystonicus in pantothenate kinase-associated neurodegeneration due to internal pulse generator depletion: Case study and literature review. ( 30903858 )
2019
8
A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration. ( 30996846 )
2019
9
The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration. ( 31055958 )
2019
10
Amelioration of Dystonic Opisthotonus in Pantothenate Kinase-Associated Neurodegeneration Syndrome with Absent "Eye-of-the-Tiger" Sign Following Bilateral Pallidal Deep Brain Stimulation. ( 31061845 )
2019
11
Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. ( 31088771 )
2019
12
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
13
Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature. ( 29926305 )
2018
14
Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration. ( 29371252 )
2018
15
Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models. ( 29522513 )
2018
16
Botulinum toxin injection to improve functional independence and to alleviate parenting stress in a child with advanced pantothenate kinase-associated neurodegeneration: A case report and literature review. ( 29768338 )
2018
17
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments. ( 29844889 )
2018
18
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. ( 29962256 )
2018
19
A therapeutic approach to pantothenate kinase associated neurodegeneration. ( 30352999 )
2018
20
Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration. ( 30838286 )
2017
21
First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration. ( 27815806 )
2017
22
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). ( 28034613 )
2017
23
Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN). ( 28055131 )
2017
24
Pantothenate kinase-associated neurodegeneration. ( 28416789 )
2017
25
Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature. ( 28629633 )
2017
26
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India. ( 28680084 )
2017
27
Atypical pantothenate kinase-associated neurodegeneration with novel genetic mutation. ( 28681788 )
2017
28
Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration. ( 28781879 )
2017
29
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study. ( 28845923 )
2017
30
A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients. ( 29619158 )
2017
31
Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration. ( 25859633 )
2016
32
First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias. ( 26740874 )
2016
33
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans. ( 26828213 )
2016
34
Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 26828840 )
2016
35
Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration. ( 27446545 )
2016
36
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration. ( 28357202 )
2016
37
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. ( 30226968 )
2016
38
Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI. ( 30363610 )
2015
39
Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. ( 24689511 )
2015
40
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration. ( 24712887 )
2015
41
Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN) - Prospective study. ( 25724846 )
2015
42
Deep brain stimulation for pantothenate kinase-associated neurodegeneration. ( 25802776 )
2015
43
Changes of cerebral white matter in patients suffering from Pantothenate Kinase-Associated Neurodegeneration (PKAN): A diffusion tensor imaging (DTI) study. ( 25819806 )
2015
44
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. ( 25836419 )
2015
45
Long-lasting isolated freezing of gait with good response to methylphenidate: A patient with pantothenate kinase-associated neurodegeneration. ( 25907032 )
2015
46
Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice. ( 26052948 )
2015
47
Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene. ( 26223911 )
2015
48
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. ( 26547561 )
2015
49
Pantothenate Kinase Associated Neurodegeneration in Two Brothers. ( 26667874 )
2015
50
Characteristic "Forcible" Geste Antagoniste in Oromandibular Dystonia Resulting From Pantothenate Kinase-Associated Neurodegeneration. ( 30363940 )
2014

Variations for Neurodegeneration with Brain Iron Accumulation 1

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

76 (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

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

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 PANK2 NM_024960.5(PANK2): c.54_60delTGTCTTT (p.Phe20Profs) deletion Pathogenic rs879253712 GRCh38 Chromosome 20, 3908224: 3908230
2 PANK2 NM_024960.5(PANK2): c.54_60delTGTCTTT (p.Phe20Profs) 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.1413-14_1413-9dup duplication Benign rs10679953 GRCh37 Chromosome 20, 3897560: 3897565
22 PANK2 NM_153638.3(PANK2): c.1413-14_1413-9dup duplication Benign rs10679953 GRCh38 Chromosome 20, 3916913: 3916918
23 PANK2 NM_153638.3(PANK2): c.377G> C (p.Gly126Ala) single nucleotide variant Benign rs3737084 GRCh37 Chromosome 20, 3870124: 3870124
24 PANK2 NM_153638.3(PANK2): c.377G> C (p.Gly126Ala) single nucleotide variant Benign rs3737084 GRCh38 Chromosome 20, 3889477: 3889477
25 PANK2 NM_153638.3(PANK2): c.332T> A (p.Leu111Gln) single nucleotide variant Benign rs71647828 GRCh37 Chromosome 20, 3870079: 3870079
26 PANK2 NM_153638.3(PANK2): c.332T> A (p.Leu111Gln) single nucleotide variant Benign rs71647828 GRCh38 Chromosome 20, 3889432: 3889432
27 PANK2 NM_153638.3(PANK2): c.1133A> G (p.Asp378Gly) single nucleotide variant Uncertain significance rs562740927 GRCh37 Chromosome 20, 3891375: 3891375
28 PANK2 NM_153638.3(PANK2): c.1133A> G (p.Asp378Gly) single nucleotide variant Uncertain significance rs562740927 GRCh38 Chromosome 20, 3910728: 3910728
29 PANK2 NM_153638.3(PANK2): c.380G> T (p.Gly127Val) single nucleotide variant Benign/Likely benign rs528149001 GRCh37 Chromosome 20, 3870127: 3870127
30 PANK2 NM_153638.3(PANK2): c.380G> T (p.Gly127Val) single nucleotide variant Benign/Likely benign rs528149001 GRCh38 Chromosome 20, 3889480: 3889480
31 PANK2 NM_153638.3(PANK2): c.-6-5G> A single nucleotide variant Benign/Likely benign rs71647826 GRCh37 Chromosome 20, 3869737: 3869737
32 PANK2 NM_153638.3(PANK2): c.-6-5G> A single nucleotide variant Benign/Likely benign rs71647826 GRCh38 Chromosome 20, 3889090: 3889090
33 PANK2 NM_153638.3(PANK2): c.*218A> G single nucleotide variant Likely benign rs71647860 GRCh38 Chromosome 20, 3923512: 3923512
34 PANK2 NM_153638.3(PANK2): c.54A> G (p.Ser18=) single nucleotide variant Uncertain significance rs886056650 GRCh37 Chromosome 20, 3869801: 3869801
35 PANK2 NM_153638.3(PANK2): c.54A> G (p.Ser18=) single nucleotide variant Uncertain significance rs886056650 GRCh38 Chromosome 20, 3889154: 3889154
36 PANK2 NM_153638.3(PANK2): c.281G> C (p.Arg94Pro) single nucleotide variant Benign/Likely benign rs71647827 GRCh37 Chromosome 20, 3870028: 3870028
37 PANK2 NM_153638.3(PANK2): c.281G> C (p.Arg94Pro) single nucleotide variant Benign/Likely benign rs71647827 GRCh38 Chromosome 20, 3889381: 3889381
38 PANK2 NM_153638.3(PANK2): c.954G> A (p.Ala318=) single nucleotide variant Uncertain significance rs78631398 GRCh37 Chromosome 20, 3888898: 3888898
39 PANK2 NM_153638.3(PANK2): c.954G> A (p.Ala318=) single nucleotide variant Uncertain significance rs78631398 GRCh38 Chromosome 20, 3908251: 3908251
40 PANK2 NM_153638.3(PANK2): c.*218A> G single nucleotide variant Likely benign rs71647860 GRCh37 Chromosome 20, 3904159: 3904159
41 PANK2 NM_153638.3(PANK2): c.519C> G (p.Pro173=) single nucleotide variant Likely benign rs71647829 GRCh37 Chromosome 20, 3870266: 3870266
42 PANK2 NM_153638.3(PANK2): c.519C> G (p.Pro173=) single nucleotide variant Likely benign rs71647829 GRCh38 Chromosome 20, 3889619: 3889619
43 PANK2 NM_153638.3(PANK2): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs886056652 GRCh38 Chromosome 20, 3923265: 3923265
44 PANK2 NM_153638.3(PANK2): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs886056652 GRCh37 Chromosome 20, 3903912: 3903912
45 PANK2 NM_153638.3(PANK2): c.*63dup duplication Likely benign rs143725982 GRCh38 Chromosome 20, 3923357: 3923357
46 PANK2 NM_153638.3(PANK2): c.*63dup duplication Likely benign rs143725982 GRCh37 Chromosome 20, 3904004: 3904004
47 PANK2 NM_153638.3(PANK2): c.*382C> T single nucleotide variant Uncertain significance rs71647861 GRCh38 Chromosome 20, 3923676: 3923676
48 PANK2 NM_153638.3(PANK2): c.*382C> T single nucleotide variant Uncertain significance rs71647861 GRCh37 Chromosome 20, 3904323: 3904323
49 PANK2 NM_153638.3(PANK2): c.272C> T (p.Pro91Leu) single nucleotide variant Uncertain significance rs757651957 GRCh37 Chromosome 20, 3870019: 3870019
50 PANK2 NM_153638.3(PANK2): c.272C> T (p.Pro91Leu) single nucleotide variant Uncertain significance rs757651957 GRCh38 Chromosome 20, 3889372: 3889372

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:

38
# 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 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 cytosol GO:0005829 9.5 C19orf12 COASY NUDT19 PANK2 PLA2G6 SNCA
2 mitochondrial intermembrane space GO:0005758 9.16 PANK2 SNCA
3 mitochondrion GO:0005739 9.02 C19orf12 COASY PANK2 PLA2G6 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 coenzyme A biosynthetic process GO:0015937 8.96 COASY PANK2
2 coenzyme biosynthetic process GO:0009108 8.62 COASY PANK2

Sources for Neurodegeneration with Brain Iron Accumulation 1

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