MCID: ATY030
MIFTS: 12

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 56
Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form 56
Nbia1, Atypical Form 56
Pkan, Atypical Form 56

Classifications:



External Ids:

Orphanet 56 ORPHA216873
ICD10 via Orphanet 34 G23.0

Summaries for Atypical Pantothenate Kinase-Associated Neurodegeneration

MalaCards based summary : Atypical Pantothenate Kinase-Associated Neurodegeneration, is also known as neurodegeneration with brain iron accumulation type 1, atypical form. 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

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:

39
Brain, Eye

Publications for Atypical Pantothenate Kinase-Associated Neurodegeneration

Articles related to Atypical Pantothenate Kinase-Associated Neurodegeneration:

(show all 11)
id 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
Late onset atypical pantothenate-kinase-associated neurodegeneration. ( 23634310 )
2013
7
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. ( 22930366 )
2013
8
Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: Six-year follow-up. ( 24123184 )
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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 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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