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

Homo sapiens

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.
last edited


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

Cited In

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Homo sapiens


Rare Diseases


Cell Type Ontology: neuron

Pathway Ontology: disease pathway

Disease Ontology: neurodegeneration with brain iron accumulation


Label Type Compact Identifier 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


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