Vitamin B6-dependent and responsive disorders (Homo sapiens)

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alpha aminoadipic acidL-~'piperideine-6-carboxylateDehydrogenasedeficiencyL-lysinepyridoxamineSaccharopinealpha aminoadipic semialdehydeASAPyridoxal-Ppiperideine-2-carboxylateL-prolinepyridoxamine-pPyridoxine-Pglutamic semialdehydes2-keto 6-amino caproic acidPyridoxinepyridoxalPipecolic acidglutamic acidPyridoxal-PPyridoxal-Ppyridoxalpyridoxamine-pPyridoxine-Ppyridoxaminepyridoxamine-pPyridoxinePyridoxine-P


Description

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Ontology Terms

 

Bibliography

  1. Anja Fux, Stephan A Sieber; ''Biochemical and Proteomic Studies of Human Pyridoxal 5′-Phosphate-Binding Protein (PLPBP)''; ACS Chem Biol ., 2020 PubMed Europe PMC Scholia
  2. Peter T Clayton; ''B6-responsive disorders: a model of vitamin dependency''; J Inherit Metab Dis ., 2006 PubMed Europe PMC Scholia
  3. Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 11''; SBN 978-3-642-40337-8, 2014

History

View all...
CompareRevisionActionTimeUserComment
128520view01:20, 11 February 2024EweitzModified description
128519view01:16, 11 February 2024EweitzFix typos, refine legend, soften disease color, standardize case
126057view13:43, 31 March 2023DeSlConnected unconnected line
126056view13:42, 31 March 2023DeSlChanged IP to Protein iso PW node
124956view08:30, 7 January 2023EgonwFixed the OMIM link patterns
124218view08:23, 1 October 2022EgonwFixed a metabolite identifier: not a protein
124212view19:48, 29 September 2022EgonwFixed a small typo
124202view07:50, 29 September 2022DeSlConverted interactions to diseases to graphical lines
123788view14:34, 12 August 2022DeSlOntology Term : 'proline metabolic pathway' added !
123787view14:34, 12 August 2022DeSlOntology Term : 'pyridoxine-dependent epilepsy' added !
123786view14:33, 12 August 2022DeSlOntology Term : 'hyperprolinemia type 2' added !
123785view14:33, 12 August 2022DeSlOntology Term : 'early-onset vitamin B6-dependent epilepsy' added !
123784view14:32, 12 August 2022DeSlOntology Term : 'epilepsy' added !
123782view14:31, 12 August 2022DeSlAdding details on PLPBP, linked to last missing disorder
123781view14:21, 12 August 2022DeSlUpdating htpps to https
123780view14:19, 12 August 2022DeSlOntology Term : 'pyridoxamine 5'-phosphate oxidase deficiency' added !
123779view14:17, 12 August 2022DeSlChanged UniProt to Rhea for interaction database
123778view14:17, 12 August 2022DeSlUpdated ALPL ensembl ID
123777view14:15, 12 August 2022DeSlAdded new litref.
123776view14:13, 12 August 2022DeSlUpdated figure descriptions
123775view14:11, 12 August 2022DeSlUpdated to reflect Ed.5
123774view14:09, 12 August 2022DeSlUpdated legend
123773view14:04, 12 August 2022DeSlConverted lines to graphical ones, if connected to textLabel
123772view13:59, 12 August 2022DeSlAdded ID for PK, added Rhea IDs for three reactions (to PLP)
119281view10:43, 23 June 2021FinterlyAdded ISBN for book citation
110710view14:41, 28 May 2020Marvin M2changed unknown node to geneproduct
109214view15:28, 27 February 2020SusanChanged annotation type
109213view15:26, 27 February 2020SusanAdded annotation to PNPO
108081view11:49, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
104423view15:00, 24 May 2019EgonwRemoved
104396view14:18, 23 May 2019Mkutmonadded one Rhea identifier
104023view17:38, 25 April 2019IreneHemelModified description
102316view13:47, 19 December 2018DeSlChanged wrong ID for glutamic semialdehyde
98922view05:18, 16 October 2018EgonwModified description
98254view09:48, 15 August 2018DeSlModified description
98252view09:45, 15 August 2018DeSlChanged disease nodes to labels, changed layout of background colour slighlty.
97294view20:25, 7 May 2018Khanspersconnected interactions
96743view06:05, 2 April 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
96735view15:03, 1 April 2018EgonwConverted interactions to regular arrows, which were not mim:conversions.
96671view15:26, 25 March 2018EgonwConverted interactions to regular arrows, which were not mim:conversions.
96570view13:23, 20 March 2018Lisaaheldadded more ID's
96569view13:08, 20 March 2018LisaaheldAdded ID's
96568view12:54, 20 March 2018LisaaheldAdded IDs
96534view21:07, 17 March 2018DeSlConnected all unconnected lines
96513view16:16, 16 March 2018DeSlOntology Term : 'neural cell' added !
96512view16:13, 16 March 2018DeSlOntology Term : 'hyperprolinemia type II disease pathway' added !
96511view16:12, 16 March 2018DeSlOntology Term : 'hypophosphatasia disease pathway' added !
96510view16:12, 16 March 2018DeSlOntology Term : 'infantile hypophosphatasia' added !
96509view16:12, 16 March 2018DeSlOntology Term : 'childhood hypophosphatasia' added !
96508view16:11, 16 March 2018DeSlOntology Term : 'hypophosphatasia' added !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2-keto 6-amino caproic acidMetabolite
ASAMetaboliteCHEBI:15365 (ChEBI) alpha-aminosemialdehyde
Dehydrogenase deficiencyP5C
L-lysineMetaboliteCHEBI:18019 (ChEBI)
L-prolineMetaboliteCHEBI:17203 (ChEBI)
L-~'piperideine-6-carboxylateP6C
Pipecolic acidMetaboliteCHEBI:6284 (ChEBI)
Pyridoxal-PMetaboliteCHEBI:18405 (ChEBI)
Pyridoxine-PMetaboliteCHEBI:28803 (ChEBI)
PyridoxineMetaboliteCHEBI:8671 (ChEBI)
SaccharopineMetaboliteCHEBI:7406 (ChEBI)
alpha aminoadipic acidMetabolite
alpha aminoadipic semialdehydeMetabolite
glutamic acidMetaboliteCHEBI:16015 (ChEBI)
glutamic semialdehydesMetaboliteCHEBI:24313 (ChEBI)
piperideine-2-carboxylateMetabolite
pyridoxalMetaboliteCHEBI:17310 (ChEBI)
pyridoxamine-pMetabolite
pyridoxamineMetaboliteCHEBI:57761 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
Pyridoxal-Ppyridoxalmim-modificationIntestinal alkaline phosphatases (Ensembl) Intestinal alkaline phosphatases
Pyridoxal-Ppyridoxalmim-modificationTNSAP (BIND) TNSAP
Pyridoxine-PPyridoxal-Pmim-conversionpyridoxamine 5' phosphate oxidase (BIND) pyridoxamine 5' phosphate oxidase
PyridoxinePyridoxine-Pmim-modificationPhosphate kinase (BIND) Phosphate kinase
pyridoxalPyridoxal-Pmim-modificationPhosphate kinase (BIND) Phosphate kinase
pyridoxamine-pPyridoxal-Pmim-conversionpyridoxamine 5' phosphate oxidase (BIND) pyridoxamine 5' phosphate oxidase
pyridoxamine-ppyridoxaminemim-modificationIntestinal alkaline phosphatases (Ensembl) Intestinal alkaline phosphatases
pyridoxaminepyridoxamine-pmim-modificationPhosphate kinase (BIND) Phosphate kinase
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