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

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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

Portal sinoidal vein 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.

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Bibliography

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History

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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-5183Complex 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
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-conversionRHEA:23452 (Rhea)
2'-deoxyguanosine 2'-deoxyguanosine0 5'-monophosphate(2−)mim-conversionRHEA:19201 (Rhea)
EOGTmim-catalysis48904 (Rhea)
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