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.
Authors
G. Keulen , Denise Slenter , Egon Willighagen , Friederike Ehrhart , Kristina Hanspers , Marvin Martens , Martina Summer-Kutmon , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology
disease pathwayCell Type Ontology
neuronDisease Ontology
neurodegeneration with brain iron accumulation| 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 | |
| PIK3R4 | GeneProduct | ensembl:ENSG00000196455 | |
| TSC1 | GeneProduct | ensembl:ENSG00000165699 | |
| ATG5 | GeneProduct | ensembl:ENSG00000057663 | |
| MLST8 | GeneProduct | ensembl:ENSG00000167965 | |
| TSC2 | GeneProduct | ensembl:ENSG00000103197 | |
| 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 | |
| PLA2G6 | GeneProduct | ensembl:ENSG00000184381 | |
| DCAF17 | GeneProduct | ensembl:ENSG00000115827 | |
| C19orf12 | GeneProduct | ensembl:ENSG00000131943 | |
| ATP13A2 | GeneProduct | ensembl:ENSG00000159363 | |
| GTPBP2 | GeneProduct | ensembl:ENSG00000172432 | |
| 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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- Classification and molecular pathogenesis of NBIA syndromes. Di Meo I, Tiranti V. Eur J Paediatr Neurol. 2018 Mar;22(2):272–84. PubMed Europe PMC Scholia
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