Genetic causes of porto-sinusoidal vascular disease (Homo sapiens)

From WikiPathways

Revision as of 22:28, 31 January 2023 by Larsgw (Talk | contribs)
Jump to: navigation, search
1125, 26211231824201632319372221621415617, 1813322cytoplasmX-linked agammaglobulinemia (XLA)Shwachmann syndromecausative geneinteraction in T-cellsunknown functionChronic granulomatous disease1. Genes directly associated with PSVD/INCPH:- C4orf54- DGUOK- KCNN3translocation2. Genetic syndromes where portal vein hypertension is observed as phenotypeAdams-Oliver SyndromeEstradiolIBTKUDP-N-acetyl-α-D-glucosamineNOTCH1MAPK3CHCHD2BTKCXXC52'-deoxyguanosineUDPHypoxia 2'-deoxyadenosine60S ribosomal subunitCOX4I2O-phospho-L-tyrosyl-[protein]ARHGAP31NOTCH4BEND6NFKB1O-(N-acetyl-β-D-glucosaminyl)-L-threonine residueRBPJ3-O-(N-acetyl-β-D-glucosaminyl)-L-seryl-[protein]TLR9DOCK6DGUOKDLL4KCNN3MAPK1ER1Phagocyte NADPH oxidase complexTLR8CYBBEIF6 2'-deoxyguanosine0 5'-monophosphate(2−)viral RNA CDC42SHCBP1K+SP1GTF2IL-serine residueEOGTSBDSL-tyrosyl-[protein]2'-deoxyadenosine 5'-monophosphate(2−)NOX3C4orf54EBNA2L-threonine residueCOX4I2885CYBC1898810812NCF114NCF21414NCF4EFL11410K+Ca2+BTK2PGTF2IPCYBA141516161619202022RAC1


Description

Porto sinusoidal vascular disease (PSVD), or formerly known as idiopathic portal vein hypertension (INCPH), is a condition with often unclear origin. There are currently three genes directly linked to this condition: C4orf54, a protein with unknown function, DGUOK, a desoxyguanosine kinase involved in purine metabolism, and KCNN3, a potassium channel regulated i.a. via estradiol.

Additionally, some genetic syndromes show increased portal vein hypertension as one of their symptoms/phenotypes. These syndromes are X-linked agammaglobulinemia, Adams-Oliver syndrome, chronic granulomatous disease and Shwachmann syndrome. X-linked agammaglobulinemia (XLA) is caused by mutations in BTK. BTK is involved in signal transduction from virus single stranded RNA recognition by toll like receptors (TLR8 and TLR9) to NFKB1 mediated gene expression as response. Adams-Oliver Syndrome can be caused by mutations in RBPJ, ARHGAP31, DOCK6, DLL4, EOGT and NOTCH1. Most of these genes are involved in the Notch pathway but there is also a link via RAC1 to the phagocyte NADPH oxidase complex (ComplexPortal).

Mutations in some proteins of this complex (CYBA, NCF1, NCF2 or NCF4), or their chaperones (CYBC1) can cause chronic granulomatous disease. Shwachmann syndrome is caused by mutations in SBDS or EFL1 which are both part of the pre-60S ribosomal subunit and are responsible for cleaving off the EIF6 protein for maturation to 60S ribosomal subunit.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Liu W, Quinto I, Chen X, Palmieri C, Rabin RL, Schwartz OM, Nelson DL, Scala G; ''Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein.''; Nat Immunol, 2001 PubMed Europe PMC Scholia
  2. Sith Siramolpiwat, Susana Seijo; ''Idiopathic non-cirrhotic portal hypertension''; Journal of Rare Diseases Research and Treatment, 2016 DOI Scholia
  3. Tcherkezian J, Triki I, Stenne R, Danek EI, Lamarche-Vane N; ''The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.''; Biol Cell, 2006 PubMed Europe PMC Scholia
  4. Doyle SL, Jefferies CA, Feighery C, O'Neill LA; ''Signaling by Toll-like receptors 8 and 9 requires Bruton's tyrosine kinase.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  5. Hsieh JJ, Zhou S, Chen L, Young DB, Hayward SD; ''CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex.''; Proc Natl Acad Sci U S A, 1999 PubMed Europe PMC Scholia
  6. Koot BG, Alders M, Verheij J, Beuers U, Cobben JM; ''A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.''; J Hepatol, 2016 PubMed Europe PMC Scholia
  7. Callahan J, Aster J, Sklar J, Kieff E, Robertson ES; ''Intracellular forms of human NOTCH1 interact at distinctly different levels with RBP-jkappa in human B and T cells.''; Leukemia, 2000 PubMed Europe PMC Scholia
  8. Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K; ''A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.''; Nat Commun, 2018 PubMed Europe PMC Scholia
  9. Feld JJ, Hussain N, Wright EC, Kleiner DE, Hoofnagle JH, Ahlawat S, Anderson V, Hilligoss D, Gallin JI, Liang TJ, Malech HL, Holland SM, Heller T; ''Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease.''; Gastroenterology, 2008 PubMed Europe PMC Scholia
  10. Yoneya T, Tahara T, Nagao K, Yamada Y, Yamamoto T, Osawa M, Miyatani S, Nishikawa M; ''Molecular cloning of delta-4, a new mouse and human Notch ligand.''; J Biochem, 2001 PubMed Europe PMC Scholia
  11. Aras S, Pak O, Sommer N, Finley R Jr, Hüttemann M, Weissmann N, Grossman LI; ''Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2.''; Nucleic Acids Res, 2013 PubMed Europe PMC Scholia
  12. Yang C, Hu JF, Zhan Q, Wang ZW, Li G, Pan JJ, Huang L, Liao CY, Huang Y, Tian YF, Shen BY, Chen JZ, Wang YD, Chen S; ''SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer.''; Genomics, 2021 PubMed Europe PMC Scholia
  13. Besmond C, Valla D, Hubert L, Poirier K, Grosse B, Guettier C, Bernard O, Gonzales E, Jacquemin E; ''Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.''; Liver Int, 2018 PubMed Europe PMC Scholia
  14. Miyamoto Y, Yamauchi J, Sanbe A, Tanoue A; ''Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.''; Exp Cell Res, 2007 PubMed Europe PMC Scholia
  15. Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, González Fernández A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanné-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ; ''Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.''; Genes Dev, 2011 PubMed Europe PMC Scholia
  16. Dai Q, Andreu-Agullo C, Insolera R, Wong LC, Shi SH, Lai EC; ''BEND6 is a nuclear antagonist of Notch signaling during self-renewal of neural stem cells.''; Development, 2013 PubMed Europe PMC Scholia
  17. Henkel T, Ling PD, Hayward SD, Peterson MG; ''Mediation of Epstein-Barr virus EBNA2 transactivation by recombination signal-binding protein J kappa.''; Science, 1994 PubMed Europe PMC Scholia
  18. Brütsch R, Liebler SS, Wüstehube J, Bartol A, Herberich SE, Adam MG, Telzerow A, Augustin HG, Fischer A; ''Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis.''; Circ Res, 2010 PubMed Europe PMC Scholia
  19. Ueno N, Takeya R, Miyano K, Kikuchi H, Sumimoto H; ''The NADPH oxidase Nox3 constitutively produces superoxide in a p22phox-dependent manner: its regulation by oxidase organizers and activators.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  20. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A; ''The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.''; Blood, 2007 PubMed Europe PMC Scholia
  21. Yang W, Desiderio S; ''BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement.''; Proc Natl Acad Sci U S A, 1997 PubMed Europe PMC Scholia
  22. Müller R, Jenny A, Stanley P; ''The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with notch signaling and pyrimidine metabolism pathways in Drosophila.''; PLoS One, 2013 PubMed Europe PMC Scholia
  23. Pulvirenti F, Pentassuglio I, Milito C, Valente M, De Santis A, Conti V, d'Amati G, Riggio O, Quinti I; ''Idiopathic non cirrhotic portal hypertension and spleno-portal axis abnormalities in patients with severe primary antibody deficiencies.''; J Immunol Res, 2014 PubMed Europe PMC Scholia
  24. Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E; ''Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism?''; Am J Med Genet A, 2005 PubMed Europe PMC Scholia
  25. Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP; ''Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.''; Hepatology, 2016 PubMed Europe PMC Scholia
  26. García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N; ''Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.''; J Biol Chem, 2015 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128397view03:31, 4 February 2024EweitzStandardize case
125332view22:28, 31 January 2023LarsgwAdd DOI to reference
123982view10:47, 9 September 2022EweitzModified title
123320view11:28, 16 July 2022EgonwRhea identifiers without prefix
123302view11:08, 13 July 2022FehrhartModified description
123301view10:44, 13 July 2022Fehrhart
123300view10:41, 13 July 2022Fehrhart
123299view10:32, 13 July 2022FehrhartOntology Term : 'disease pathway' added !
123298view10:30, 13 July 2022FehrhartOntology Term : 'portal hypertension' added !
123297view10:30, 13 July 2022FehrhartOntology Term : 'chronic granulomatous disease' added !
123296view10:29, 13 July 2022FehrhartOntology Term : 'Adams-Oliver syndrome' added !
123295view10:29, 13 July 2022FehrhartOntology Term : 'X-linked agammaglobulinemia' added !
123294view10:22, 13 July 2022FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2'-deoxyadenosineMetaboliteCHEBI:17256 (ChEBI)
2'-deoxyguanosine0 5'-monophosphate(2−)MetaboliteCHEBI:57673 (ChEBI)
2'-deoxyadenosine 5'-monophosphate(2−)MetaboliteCHEBI:58245 (ChEBI)
2'-deoxyguanosineMetaboliteCHEBI:17172 (ChEBI)
3-O-(N-acetyl-β-D-glucosaminyl)-L-seryl-[protein]MetaboliteCHEBI:90838 (ChEBI)
60S ribosomal subunitComplexCPX-5183 (Complex Portal) Complex Portal ID
ARHGAP31GeneProductENSG00000031081 (Ensembl) CdGAP
BEND6GeneProductENSG00000151917 (Ensembl)
BTKGeneProductENSG00000010671 (Ensembl)
C4orf54GeneProductENSG00000248713 (Ensembl)
  • FOPV
  • D6RIA3
CDC42GeneProductENSG00000070831 (Ensembl)
CHCHD2GeneProductENSG00000106153 (Ensembl)
COX4I2GeneProductENSG00000131055 (Ensembl)
CXXC5GeneProductENSG00000171604 (Ensembl)
CYBAGeneProductENSG00000051523 (Ensembl)
CYBBGeneProductENSG00000165168 (Ensembl)
CYBC1GeneProductENSG00000178927 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
DGUOKGeneProductENSG00000114956 (Ensembl)
DLL4GeneProductENSG00000128917 (Ensembl)
DOCK6GeneProductENSG00000130158 (Ensembl)
EBNA2GeneProductQ5322596 (Uniprot-TrEMBL)
EFL1GeneProductENSG00000140598 (Ensembl)
EIF6GeneProductENSG00000242372 (Ensembl)
EOGTGeneProductENSG00000163378 (Ensembl)
ER1GeneProductENSG00000091831 (Ensembl)
EstradiolMetaboliteHMDB00151 (HMDB)
GTF2IGeneProductENSG00000263001 (Ensembl) BAP-135
HypoxiaQ105688 (Wikidata) condition
IBTKGeneProductENSG00000005700 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
KCNN3GeneProductENSG00000143603 (Ensembl)
L-serine residueMetaboliteCHEBI:29999 (ChEBI)
L-threonine residueMetaboliteCHEBI:30013 (ChEBI)
L-tyrosyl-[protein]MetaboliteCHEBI:46858 (ChEBI)
MAPK1GeneProductENSG00000100030 (Ensembl) ERK2
MAPK3GeneProductENSG00000102882 (Ensembl) ERK1
NCF1GeneProductENSG00000158517 (Ensembl)
NCF2GeneProductENSG00000116701 (Ensembl)
NCF4GeneProductENSG00000100365 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
NOTCH1GeneProductENSG00000148400 (Ensembl)
NOTCH4GeneProductENSG00000204301 (Ensembl)
NOX3GeneProductENSG00000074771 (Ensembl)
O-(N-acetyl-β-D-glucosaminyl)-L-threonine residueMetaboliteCHEBI:90840 (ChEBI)
O-phospho-L-tyrosyl-[protein]MetaboliteCHEBI:82620 (ChEBI)
Phagocyte NADPH oxidase complexComplexCPX-1017 (Complex Portal)
RAC1GeneProductENSG00000136238 (Ensembl)
RBPJGeneProductENSG00000168214 (Ensembl) CBF1
SBDSGeneProductENSG00000126524 (Ensembl)
SHCBP1GeneProductENSG00000171241 (Ensembl)
SP1GeneProductENSG00000185591 (Ensembl)
TLR8GeneProductENSG00000101916 (Ensembl)
TLR9GeneProductENSG00000239732 (Ensembl)
UDP-N-acetyl-α-D-glucosamineMetaboliteCHEBI:57705 (ChEBI)
UDPMetaboliteCHEBI:17659 (ChEBI)
viral RNA MetaboliteCHEBI:33697 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
2'-deoxyadenosine2'-deoxyadenosine 5'-monophosphate(2−)mim-conversion23452 (Rhea)
2'-deoxyguanosine 2'-deoxyguanosine0 5'-monophosphate(2−)mim-conversion19201 (Rhea)
EOGTmim-catalysis48904 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5269"
Personal tools