NBIA
MCID: PNT028
MIFTS: 44

Pantothenate Kinase-Associated Neurodegeneration (NBIA) malady

Neuronal, Eye, Metabolic categories

Summaries for Pantothenate Kinase-Associated Neurodegeneration

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Pantothenate kinase-associated neurodegeneration (pkan) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). pkan is generally separated into classic and atypical forms. children with classic pkan develop 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 an accumulation 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 changes (mutations) in the pank2 gene. last updated: 9/23/2011

MalaCards: Pantothenate Kinase-Associated Neurodegeneration, also known as pkan, is related to neuroaxonal dystrophy and n syndrome, and has symptoms including joint/articular deformation, hypertonia/spasticity/rigidity/stiffness and hypereflexia. An important gene associated with Pantothenate Kinase-Associated Neurodegeneration is PANK2 (pantothenate kinase 2), and among its related pathways are Metabolism and Metabolism of vitamins and cofactors. The compounds pantothenate and pantetheine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:8 A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.

NINDS:44 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.

Genetics Home Reference:21 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.

Wikipedia:64 Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron... more...

Description from OMIM:47 234200

GeneReviews summary for pkan

Aliases & Classifications for Pantothenate Kinase-Associated Neurodegeneration

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44NINDS, 22GTR, 10DISEASES, 49Orphanet, 61UMLS, 9diseasecard, 47OMIM, 45Novoseek, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
pkan:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

pantothenate kinase-associated neurodegeneration 8 64 19 43 20 21 44
pkan 64 19 43 21 49
neurodegeneration with brain iron accumulation 43 20 22 44
hallervorden-spatz syndrome 8 10 49 61
hallervorden-spatz disease 8 43 44 45
neurodegeneration with brain iron accumulation type 1 64 21 49
neurodegeneration with brain iron accumulation 1 8 9 47
nbia1 64 21 49
pigmentary pallidal degeneration 8 22
pantothenate-kinase-associated neurodegeneration 49
brain iron accumulation type i syndrome 8
neuroaxonal dystrophy, late infantile 43
neuroaxonal dystrophy, juvenile-onset 21
nbia 43


External Ids:

Disease Ontology8 DOID:3981
OMIM47 234200
MeSH35 D006211
SNOMED-CT57 2992000
MESH via Orphanet36 D006211
ICD10 via Orphanet26 G23.0
ICD1025 G23.0

Related Diseases for Pantothenate Kinase-Associated Neurodegeneration

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pantothenate Kinase-Associated Neurodegeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1neuroaxonal dystrophy30.5PANK1, PANK2
2n syndrome10.8
3adult syndrome10.6
4neurodegeneration with brain iron accumulation 310.6
5classic pantothenate kinase associated neurodegeneration10.5
6atypical pantothenate kinase associated neurodegeneration10.5
7neurodegeneration with brain iron accumulation 2b10.5
8basal ganglia disease10.4
9brain disease10.4
10torsion dystonia10.4
11conversion disorder10.3
12azoospermia10.3
13chorea-acanthocytosis10.3
14acanthocytosis10.3
15neuroaxonal dystrophy, infantile10.3
16harp syndrome10.3
17chorea10.3
18tremor10.3
19aceruloplasminemia10.3
20atypical neuroaxonal dystrophy10.3
21neuroleptic malignant syndrome10.3
22ceroid storage disease10.3
23megalencephaly10.3
24rheumatic encephalitis10.3
25rheumatic disease10.3
26parkinson's disease10.3
27niemann-pick disease10.3
28lateral sclerosis10.3
29superior mesenteric artery syndrome10.3
30pick's disease10.3
31amyotrophic lateral sclerosis10.3
32niemann–pick disease10.3
33char syndrome10.3
34neurodegeneration with brain iron accumulation disorders10.3
35parkin type of early-onset parkinson disease10.3
36young syndrome10.3
37bod syndrome10.3
38pigmentary retinopathy10.3
39levine-critchley syndrome10.2
40neurodegeneration with brain iron accumulation 410.0
41neurodegeneration with brain iron accululation 510.0
42fatty acid hydroxylase-associated neurodegeneration10.0
43parkinson disease type 910.0

Graphical network of the top 20 diseases related to Pantothenate Kinase-Associated Neurodegeneration:



Diseases related to pantothenate kinase-associated neurodegeneration

Clinical Features for Pantothenate Kinase-Associated Neurodegeneration

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

234200

Clinical synopsis from OMIM:

234200

Symptoms:

49 (show all 29)
  • joint/articular deformation
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • constipation
  • abnormal gait
  • tremor
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • repeat respiratory infections
  • mild visual loss/impaired visual acuity
  • retinitis pigmentosa/retinal pigmentary changes
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • movement disorder
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • obsessive-compulsive disorder
  • muscle anomalies
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • foot anomalies
  • cranial nerve anomalies

Drugs & Therapeutics for Pantothenate Kinase-Associated Neurodegeneration

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pantothenate Kinase-Associated Neurodegeneration

Drug clinical trials:

Search ClinicalTrials for Pantothenate Kinase-Associated Neurodegeneration

Search NIH Clinical Center for Pantothenate Kinase-Associated Neurodegeneration

Search CenterWatch for Pantothenate Kinase-Associated Neurodegeneration

Genetic Tests for Pantothenate Kinase-Associated Neurodegeneration

Sources:
20GeneTests, 22GTR
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Genetic tests related to Pantothenate Kinase-Associated Neurodegeneration:

id Genetic test Affiliating Genes
1 Neurodegeneration With Brain Iron Accumulation20 22
2 Pantothenate Kinase-associated Neurodegeneration20 PANK2
3 Neurodegeneration With Brain Iron Accumulation Multi-gene Panels20
4 Pigmentary Pallidal Degeneration22

Anatomical Context for Pantothenate Kinase-Associated Neurodegeneration

Sources:
33MalaCards
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MalaCards organs/tissues related to Pantothenate Kinase-Associated Neurodegeneration:

33
Brain

Animal Models for Pantothenate Kinase-Associated Neurodegeneration or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pantothenate Kinase-Associated Neurodegeneration:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1PANK1, PANK2
2MP:00053708.8PANK1, PANK2

Publications for Pantothenate Kinase-Associated Neurodegeneration

Genetic Variations for Pantothenate Kinase-Associated Neurodegeneration

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pantothenate Kinase-Associated Neurodegeneration:

63 (show all 31)
id Symbol AA change Variation SNP ID
1PANK2p.Gly219ValVAR_015154
2PANK2p.Thr234AlaVAR_015155
3PANK2p.Arg264TrpVAR_015156
4PANK2p.Arg278CysVAR_015157
5PANK2p.Leu282ValVAR_015158
6PANK2p.Arg286CysVAR_015159
7PANK2p.Thr327IleVAR_015160
8PANK2p.Ser351ProVAR_015161
9PANK2p.Asn355SerVAR_015162
10PANK2p.Asn404IleVAR_015163
11PANK2p.Leu413ProVAR_015164
12PANK2p.Ser471AsnVAR_015165
13PANK2p.Ile497ThrVAR_015166
14PANK2p.Asn500IleVAR_015167
15PANK2p.Gly521ArgVAR_015168
16PANK2p.Thr528MetVAR_015169
17PANK2p.Glu134GlyVAR_060934
18PANK2p.Arg249ProVAR_060935
19PANK2p.Arg278LeuVAR_060936
20PANK2p.Glu322AspVAR_060937
21PANK2p.Glu322GlyVAR_060938
22PANK2p.Arg357GlnVAR_060939
23PANK2p.Ala398ThrVAR_060940
24PANK2p.Cys428TyrVAR_060942
25PANK2p.Asp447AsnVAR_060943
26PANK2p.Ile501ThrVAR_060944
27PANK2p.Ala509ValVAR_060945
28PANK2p.Asn511AspVAR_060946
29PANK2p.Arg532TrpVAR_060947
30PANK2p.Leu563ProVAR_060948
31PANK2p.Pro570LeuVAR_060949rs41279408

Expression for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

Search GEO for disease gene expression data for Pantothenate Kinase-Associated Neurodegeneration.

Pathways for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

Sources:
54Reactome, 30KEGG
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Pathways related to Pantothenate Kinase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PANK1, PANK2
2
Hide members
9.1PANK1, PANK2
3
Hide members
9.1PANK1, PANK2

Compounds for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Pantothenate Kinase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pantothenate459.2PANK1, PANK2
2pantetheine45 2410.1PANK1, PANK2
3Adenosine triphosphate11 2410.1PANK1, PANK2
44-phosphopantothenoylcysteine45 2410.0PANK2, PANK1
5adp45 29 2410.8PANK1, PANK2

GO Terms for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

Sources:
16Gene Ontology
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Biological processes related to Pantothenate Kinase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1coenzyme biosynthetic processGO:0091089.2PANK1, PANK2
2coenzyme A biosynthetic processGO:0159379.1PANK1, PANK2
3vitamin metabolic processGO:0067669.1PANK1, PANK2
4pantothenate metabolic processGO:0159399.0PANK2, PANK1
5water-soluble vitamin metabolic processGO:0067678.8PANK1, PANK2

Molecular functions related to Pantothenate Kinase-Associated Neurodegeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pantothenate kinase activityGO:0045949.1PANK1, PANK2

Products for genes affiliated with Pantothenate Kinase-Associated Neurodegeneration

  • Antibodies
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Sources for Pantothenate Kinase-Associated Neurodegeneration

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet