Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal systemic blood pressure (HP:0030972)help
Parent Node:
expand
Abnormality of the hepatic vasculature (HP:0006707)help
Parent Node:
expand
Hypertension (HP:0000822)help
..Starting node
..expand
Portal hypertension (HP:0001409)help
Term ID: 1409
Name: Portal hypertension
Synonym:
Definition: Increased pressure in the portal vein.
Comments:
Reference: HP:0001409
Genes and Diseases:
 
       Child Nodes:
........expandExtrahepatic portal hypertension (HP:0004941) help

 Sister Nodes: 
..expandElevated diastolic blood pressure (HP:0005117) help
..expandElevated mean arterial pressure (HP:0004972) help
..expandElevated systolic blood pressure (HP:0004421) help
..expandEpisodic hypertension (HP:0000875) help
..expandHypertension associated with pheochromocytoma (HP:0002640) help
..expandHypertensive crisis (HP:0100735) help
..expandRenovascular hypertension (HP:0100817) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001409HP:0001409Portal hypertension0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0001409HP:0001409Portal hypertension0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0001409HP:0001409Portal hypertension0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0001409HP:0001409Portal hypertension0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001409HP:0001409Portal hypertension0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001409HP:0001409Portal hypertension0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001409HP:0001409Portal hypertension0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0001409HP:0001409Portal hypertension0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001409HP:0001409Portal hypertension0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0001409HP:0001409Portal hypertension0CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent1
HP:0001409HP:0001409Portal hypertension0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001409HP:0001409Portal hypertension0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0001409HP:0001409Portal hypertension0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0001409HP:0001409Portal hypertension0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:0001409HP:0001409Portal hypertension0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0001409HP:0001409Portal hypertension0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0001409HP:0001409Portal hypertension0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001409HP:0001409Portal hypertension0DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0001409HP:0001409Portal hypertension0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001409HP:0001409Portal hypertension0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6HP:0040283 - Occasional9
HP:0001409HP:0001409Portal hypertension0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001409HP:0001409Portal hypertension0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0001409HP:0001409Portal hypertension0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001409HP:0001409Portal hypertension0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0001409HP:0001409Portal hypertension0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001409HP:0001409Portal hypertension0F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent159
HP:0001409HP:0001409Portal hypertension0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001409HP:0001409Portal hypertension0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001409HP:0001409Portal hypertension0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0001409HP:0001409Portal hypertension0GDF2 CL E G H26584217OMIM:615506TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT58
HP:0001409HP:0001409Portal hypertension0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001409HP:0001409Portal hypertension0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0001409HP:0001409Portal hypertension0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001409HP:0001409Portal hypertension0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0001409HP:0001409Portal hypertension0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001409HP:0001409Portal hypertension0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0001409HP:0001409Portal hypertension0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0001409HP:0001409Portal hypertension0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0001409HP:0001409Portal hypertension0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0001409HP:0001409Portal hypertension0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001409HP:0001409Portal hypertension0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0001409HP:0001409Portal hypertension0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent57
HP:0001409HP:0001409Portal hypertension0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040283 - Occasional57
HP:0001409HP:0001409Portal hypertension0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001409HP:0001409Portal hypertension0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0001409HP:0001409Portal hypertension0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001409HP:0001409Portal hypertension0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001409HP:0001409Portal hypertension0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001409HP:0001409Portal hypertension0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040282 - Frequent51
HP:0001409HP:0001409Portal hypertension0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040283 - Occasional97
HP:0001409HP:0001409Portal hypertension0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001409HP:0001409Portal hypertension0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0001409HP:0001409Portal hypertension0NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosisHP:0040282 - Frequent5
HP:0001409HP:0001409Portal hypertension0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001409HP:0001409Portal hypertension0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001409HP:0001409Portal hypertension0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0001409HP:0001409Portal hypertension0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0001409HP:0001409Portal hypertension0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0001409HP:0001409Portal hypertension0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040284 - Very rare563
HP:0001409HP:0001409Portal hypertension0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0001409HP:0001409Portal hypertension0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0PRIM1 CL E G H55579369OMIM:620005
HP:0001409HP:0001409Portal hypertension0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001409HP:0001409Portal hypertension0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001409HP:0001409Portal hypertension0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0001409HP:0001409Portal hypertension0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0001409HP:0001409Portal hypertension0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0001409HP:0001409Portal hypertension0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0001409HP:0001409Portal hypertension0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0001409HP:0001409Portal hypertension0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001409HP:0001409Portal hypertension0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0001409HP:0001409Portal hypertension0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0001409HP:0001409Portal hypertension0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0001409HP:0001409Portal hypertension0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0001409HP:0001409Portal hypertension0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0001409HP:0001409Portal hypertension0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040283 - Occasional3
HP:0001409HP:0001409Portal hypertension0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001409HP:0001409Portal hypertension0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0001409HP:0001409Portal hypertension0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0001409HP:0001409Portal hypertension0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0001409HP:0001409Portal hypertension0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0001409HP:0001409Portal hypertension0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001409HP:0001409Portal hypertension0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0001409HP:0001409Portal hypertension0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001409HP:0001409Portal hypertension0TULP3 CL E G H728912425OMIM:619902
HP:0001409HP:0001409Portal hypertension0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0001409HP:0004941Extrahepatic portal hypertension1 CL E G H


Genes (74) :ABCD3 ACTG2 ACVRL1 ADA2 ALMS1 ARHGAP31 ASXL1 BMP6 BTNL2 CALR CBL CC2D2A CLDN1 DCDC2 DGUOK DLL4 DOCK6 DZIP1L ELN ENG EOGT F5 FARSB GBE1 GDF2 GIMAP5 GLIS3 GNB2 GPR35 HFE HLA-DRB1 IL12A IL12RB1 INPP5E IRF5 ITCH JAK2 KIF12 LIPA MED12 MLXIPL MMEL1 MPI MPL MST1 NEUROG3 NOTCH1 NPHP3 PIGM PKHD1 POU2AF1 PRIM1 RBPJ RNU7-1 RPGRIP1L RUNX1 SEMA4D SHPK SLC30A10 SMAD4 SOX10 SP110 SPIB SRSF2 STN1 TCF4 TET2 TJP2 TMEM67 TNFSF15 TNPO3 TTC26 TULP3 ZFYVE19

Diseases (53) :OMIM:616278 OMIM:619431 ORPHA:774 OMIM:615688 ORPHA:64 ORPHA:974 ORPHA:98850 ORPHA:465508 ORPHA:797 ORPHA:131 ORPHA:824 ORPHA:1454 ORPHA:59303 OMIM:617394 ORPHA:84081 OMIM:251880 OMIM:617068 OMIM:616589 ORPHA:731 OMIM:194050 OMIM:613658 OMIM:232500 OMIM:615506 OMIM:619463 OMIM:610199 OMIM:619503 ORPHA:171 ORPHA:186 OMIM:613385 ORPHA:228426 ORPHA:729 OMIM:619662 OMIM:278000 OMIM:301068 ORPHA:79319 ORPHA:83620 OMIM:267010 OMIM:208540 OMIM:610293 ORPHA:53035 OMIM:263200 OMIM:620005 OMIM:619487 ORPHA:440713 ORPHA:309854 OMIM:609136 ORPHA:79124 OMIM:617341 OMIM:615878 OMIM:216360 OMIM:619534 OMIM:619902 OMIM:619849
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.