Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the abdominal organs (HP:0002012)help
Grandparent Node:
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Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
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Abnormality of the spleen (HP:0001743)help
..Starting node
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Abnormal spleen physiology (HP:0025409)help
Term ID: 25409
Name: Abnormal spleen physiology
Synonym:
Definition: Any anomaly of the function of the spleen.
Comments:
Reference: HP:0025409
Genes and Diseases:
 
       Child Nodes:
........expandHypersplenism (HP:0001971) help

 Sister Nodes: 
..expandAbnormal spleen morphology (HP:0025408) 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:0025409HP:0025409Abnormal spleen physiology0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0025409HP:0025409Abnormal spleen physiology0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0025409HP:0025409Abnormal spleen physiology0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0025409HP:0025409Abnormal spleen physiology0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0025409HP:0025409Abnormal spleen physiology0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0025409HP:0025409Abnormal spleen physiology0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0025409HP:0025409Abnormal spleen physiology0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1
HP:0025409HP:0025409Abnormal spleen physiology0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0025409HP:0025409Abnormal spleen physiology0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0025409HP:0025409Abnormal spleen physiology0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0025409HP:0025409Abnormal spleen physiology0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0025409HP:0025409Abnormal spleen physiology0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0025409HP:0025409Abnormal spleen physiology0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025409HP:0025409Abnormal spleen physiology0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0025409HP:0025409Abnormal spleen physiology0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0025409HP:0025409Abnormal spleen physiology0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0025409HP:0025409Abnormal spleen physiology0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0025409HP:0025409Abnormal spleen physiology0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0025409HP:0025409Abnormal spleen physiology0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0025409HP:0025409Abnormal spleen physiology0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0025409HP:0025409Abnormal spleen physiology0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 177
HP:0025409HP:0025409Abnormal spleen physiology0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0025409HP:0025409Abnormal spleen physiology0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0025409HP:0025409Abnormal spleen physiology0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0025409HP:0025409Abnormal spleen physiology0TULP3 CL E G H728912425OMIM:619902
HP:0025409HP:0001971Hypersplenism1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0025409HP:0001971Hypersplenism1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent87
HP:0025409HP:0001971Hypersplenism1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0025409HP:0001971Hypersplenism1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0025409HP:0001971Hypersplenism1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent59
HP:0025409HP:0001971Hypersplenism1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent37
HP:0025409HP:0001971Hypersplenism1GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent
HP:0025409HP:0001971Hypersplenism1GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0025409HP:0001971Hypersplenism1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0025409HP:0001971Hypersplenism1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040282 - Frequent580
HP:0025409HP:0001971Hypersplenism1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0025409HP:0001971Hypersplenism1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040282 - Frequent3
HP:0025409HP:0001971Hypersplenism1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025409HP:0001971Hypersplenism1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0025409HP:0001971Hypersplenism1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5HP:0040283 - Occasional452
HP:0025409HP:0001971Hypersplenism1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0025409HP:0001971Hypersplenism1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent10
HP:0025409HP:0001971Hypersplenism1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0025409HP:0001971Hypersplenism1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent
HP:0025409HP:0001971Hypersplenism1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0025409HP:0001971Hypersplenism1SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent77
HP:0025409HP:0001971Hypersplenism1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0025409HP:0001971Hypersplenism1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0025409HP:0001971Hypersplenism1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0025409HP:0001971Hypersplenism1TULP3 CL E G H728912425OMIM:619902


Genes (22) :ASXL1 CASP10 CBL DZIP1L FAS FASLG GBA1 HBB ITCH LIPA MED12 NOTCH1 PKHD1 PRKCD PSAP RASGRP1 RUNX1 SCARB2 SMPD1 SRSF2 TET2 TULP3

Diseases (15) :ORPHA:98850 ORPHA:3261 ORPHA:731 ORPHA:77259 OMIM:230800 ORPHA:231214 ORPHA:231226 OMIM:613385 ORPHA:228426 OMIM:278000 OMIM:301068 OMIM:616028 OMIM:610539 ORPHA:77293 OMIM:619902
 

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