MCID: ATY030
MIFTS: 24

Atypical Pantothenate Kinase-Associated Neurodegeneration

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

Aliases & Classifications for Atypical Pantothenate Kinase-Associated Neurodegeneration

MalaCards integrated aliases for Atypical Pantothenate Kinase-Associated Neurodegeneration:

Name: Atypical Pantothenate Kinase-Associated Neurodegeneration 59
Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form 59
Nbia1, Atypical Form 59
Pkan, Atypical Form 59

Classifications:



Summaries for Atypical Pantothenate Kinase-Associated Neurodegeneration

MalaCards based summary : Atypical Pantothenate Kinase-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation type 1, atypical form, is related to neurodegeneration with brain iron accumulation 1 and 3-methylglutaconic aciduria, type iii. An important gene associated with Atypical Pantothenate Kinase-Associated Neurodegeneration is PANK2 (Pantothenate Kinase 2). Affiliated tissues include brain, tongue and eye, and related phenotypes are emotional lability and depressivity

Related Diseases for Atypical Pantothenate Kinase-Associated Neurodegeneration

Diseases related to Atypical Pantothenate Kinase-Associated Neurodegeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 10.6
2 3-methylglutaconic aciduria, type iii 10.1

Symptoms & Phenotypes for Atypical Pantothenate Kinase-Associated Neurodegeneration

Human phenotypes related to Atypical Pantothenate Kinase-Associated Neurodegeneration:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
9 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
10 violent behavior 59 32 frequent (33%) Frequent (79-30%) HP:0008760
11 impulsivity 59 32 frequent (33%) Frequent (79-30%) HP:0100710
12 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
13 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
14 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
15 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
16 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
17 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
18 oromandibular dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012048
19 inertia 59 32 occasional (7.5%) Occasional (29-5%) HP:0030216
20 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
21 retinopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0000488
22 blindness 59 32 very rare (1%) Very rare (<4-1%) HP:0000618
23 optic atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000648
24 psychosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000709
25 clumsiness 59 32 very rare (1%) Very rare (<4-1%) HP:0002312
26 frequent falls 59 32 very rare (1%) Very rare (<4-1%) HP:0002359
27 tongue atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0012473
28 upper motor neuron dysfunction 59 Frequent (79-30%)
29 focal dystonia 59 Frequent (79-30%)
30 neurological speech impairment 59 Occasional (29-5%)

Drugs & Therapeutics for Atypical Pantothenate Kinase-Associated Neurodegeneration

Search Clinical Trials , NIH Clinical Center for Atypical Pantothenate Kinase-Associated Neurodegeneration

Genetic Tests for Atypical Pantothenate Kinase-Associated Neurodegeneration

Anatomical Context for Atypical Pantothenate Kinase-Associated Neurodegeneration

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

41
Brain, Tongue, Eye

Publications for Atypical Pantothenate Kinase-Associated Neurodegeneration

Articles related to Atypical Pantothenate Kinase-Associated Neurodegeneration:

(show all 12)
# Title Authors Year
1
Novel Compound Heterozygous PANK2 Gene Mutations in a Chinese Patient with Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 29962256 )
2018
2
Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature. ( 28629633 )
2017
3
Atypical pantothenate kinase-associated neurodegeneration with novel genetic mutation. ( 28681788 )
2017
4
Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration. ( 26828840 )
2016
5
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans. ( 26828213 )
2016
6
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. ( 24655737 )
2014
7
Late onset atypical pantothenate-kinase-associated neurodegeneration. ( 23634310 )
2013
8
Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: Six-year follow-up. ( 24123184 )
2013
9
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. ( 22930366 )
2013
10
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism. ( 20076801 )
2009
11
Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration. ( 24868354 )
2009
12
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. ( 15747360 )
2005

Variations for Atypical Pantothenate Kinase-Associated Neurodegeneration

Expression for Atypical Pantothenate Kinase-Associated Neurodegeneration

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

Pathways for Atypical Pantothenate Kinase-Associated Neurodegeneration

GO Terms for Atypical Pantothenate Kinase-Associated Neurodegeneration

Sources for Atypical Pantothenate Kinase-Associated Neurodegeneration

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