MCID: ATY030
MIFTS: 14

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 55
Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form 55
Nbia1, Atypical Form 55
Pkan, Atypical Form 55

Classifications:



External Ids:

Orphanet 55 ORPHA216873
ICD10 via Orphanet 33 G23.0

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. An important gene associated with Atypical Pantothenate Kinase-Associated Neurodegeneration is PANK2 (Pantothenate Kinase 2). Affiliated tissues include brain and eye.

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

Symptoms & Phenotypes for Atypical Pantothenate Kinase-Associated Neurodegeneration

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:

38
Brain, Eye

Publications for Atypical Pantothenate Kinase-Associated Neurodegeneration

Articles related to Atypical Pantothenate Kinase-Associated Neurodegeneration:

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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33 ICD10 via Orphanet
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41 MeSH
42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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