Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway (WP4577)

Homo sapiens

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Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term for 12 disease subtypes, all characterized by the build-up of iron within the brain. One of these subtypes is beta-propeller protein-associated neurodegeneration (BPAN) caused by a mutation in the WDR45 gene. This protein is involved in the autophagy pathway; the exact mechanism is still unknown. Other NBIA subtypes are PKAN, CoPAN, and FAHN. PKAN and CoPAN are involved in Coenzyme A synthesis within mitochondria and FAHN is found in myelin synthesis. Dysfunctioning of these pathways leads to a phenotype characterized by developmental delay and intellectual disabilities. Nevertheless, the exact relation between mutation and phenotype remains unknown.

Authors

G. Keulen , Denise Slenter , Egon Willighagen , Friederike Ehrhart , Kristina Hanspers , Marvin Martens , Martina Summer-Kutmon , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Cell Type Ontology

neuron

Disease Ontology

neurodegeneration with brain iron accumulation

Participants
Query Drugst.One

Label Type Compact URI Comment
Palmitoyl-CoA Metabolite chebi:57379
(R)-4'-phosphopantothenate Metabolite chebi:10986
L-cysteine Metabolite chebi:35235
Sphingomyelin Metabolite chebi:17636
3-Dehydrosphinganine Metabolite chebi:17862
Dihydrosphingosine Metabolite pubchem.compound:46878428
D-pantetheine 4'-phosphate Metabolite chebi:61723
(R)-pantothenate Metabolite chebi:29032
Diphosphate Metabolite chebi:33019
Ceramide Metabolite chebi:17761
Coenzyme A Metabolite chebi:57287
1,2-saturated fatty acid Metabolite chebi:83955
(2R)-2-hydroxy fatty acid anion Metabolite chebi:76177
L-serine Metabolite chebi:33384
Dihydroceramide Metabolite chebi:139048
Acetyl-CoA Metabolite chebi:57288
Fe(II)-cytochrome b5 Metabolite chebi:29033
Malonyl-CoA Metabolite chebi:57384
3'-dephospho-CoA Metabolite chebi:57328
Sphingolipids Metabolite chebi:26739
N-[(R)-4'-Phosphopantothenoyl]-L-cysteine Metabolite chebi:59458
Fe(III)-cytochrome b5 Metabolite chebi:29034
PtdIns3P Metabolite chebi:26034
SPTLC1 GeneProduct ensembl:ENSG00000090054
ACACA GeneProduct ensembl:ENSG00000278540
FA2H GeneProduct ensembl:ENSG00000103089
MECP2 GeneProduct ensembl:ENSG00000169057
COASY GeneProduct ensembl:ENSG00000068120
PIK3C3 GeneProduct ensembl:ENSG00000078142
ATG10 GeneProduct ensembl:ENSG00000152348
WIPI2 GeneProduct ensembl:ENSG00000157954
ATG7 GeneProduct ensembl:ENSG00000197548
ATG14 GeneProduct ensembl:ENSG00000126775
AKT1S1 GeneProduct ensembl:ENSG00000204673
ATG13 GeneProduct ensembl:ENSG00000175224
RB1CC1 GeneProduct ensembl:ENSG00000023287
AMPK GeneProduct ensembl:ENSG00000132356
RHEB GeneProduct ensembl:ENSG00000106615
ULK1 GeneProduct ensembl:ENSG00000177169
ATG16L1 GeneProduct ensembl:ENSG00000085978
ATG12 GeneProduct ensembl:ENSG00000145782
BECN1 GeneProduct ensembl:ENSG00000126581
DEPTOR GeneProduct ensembl:ENSG00000155792
LC3 GeneProduct ensembl:ENSG00000101460
ATG2A GeneProduct ensembl:ENSG00000110046
LKB1 GeneProduct ensembl:ENSG00000118046
ATG7 GeneProduct ensembl:ENSG00000197548
PIK3R4 GeneProduct ensembl:ENSG00000196455
TSC1 GeneProduct ensembl:ENSG00000165699
ATG5 GeneProduct ensembl:ENSG00000057663
MLST8 GeneProduct ensembl:ENSG00000167965
TSC2 GeneProduct ensembl:ENSG00000103197
ATG12 GeneProduct ensembl:ENSG00000145782
WIPI1 GeneProduct ensembl:ENSG00000070540
ATG4 GeneProduct ensembl:ENSG00000101844
WDR45 GeneProduct ensembl:ENSG00000196998
MTOR GeneProduct ensembl:ENSG00000198793
RPTOR GeneProduct ensembl:ENSG00000141564
ATG101 GeneProduct ensembl:ENSG00000123395
ATG3 GeneProduct ensembl:ENSG00000144848
ATG12 GeneProduct ensembl:ENSG00000145782
ATG12 GeneProduct ensembl:ENSG00000145782
ATG5 GeneProduct ensembl:ENSG00000057663
LC3 GeneProduct ensembl:ENSG00000101460
LC3 GeneProduct ensembl:ENSG00000101460
LC3 GeneProduct ensembl:ENSG00000101460
COASY GeneProduct ensembl:ENSG00000068120
PLA2G6 GeneProduct ensembl:ENSG00000184381
DCAF17 GeneProduct ensembl:ENSG00000115827
WDR45 GeneProduct ensembl:ENSG00000196998
PLA2G6 GeneProduct ensembl:ENSG00000184381
C19orf12 GeneProduct ensembl:ENSG00000131943
FA2H GeneProduct ensembl:ENSG00000103089
ATP13A2 GeneProduct ensembl:ENSG00000159363
GTPBP2 GeneProduct ensembl:ENSG00000172432
COASY GeneProduct ensembl:ENSG00000068120
PANK2 GeneProduct ensembl:ENSG00000125779
FTL GeneProduct ensembl:ENSG00000087086
SCPx GeneProduct ensembl:ENSG00000116171
CP GeneProduct ensembl:ENSG00000047457
PANK2 Protein ensembl:ENSG00000125779

References

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