Human Phenotype Ontology 
Grandparent Node:
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Abnormal spleen morphology (HP:0025408)help
Parent Node:
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Aplasia/Hypoplasia of the spleen (HP:0010451)help
..Starting node
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Asplenia (HP:0001746)help
Term ID: 1746
Name: Asplenia
Synonym: Absent spleen
Definition: Absence (aplasia) of the spleen.
Comments:
Reference: HP:0001746
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplastic spleen (HP:0006270) 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:0001746HP:0001746Asplenia0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001746HP:0001746Asplenia0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0001746HP:0001746Asplenia0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0001746HP:0001746Asplenia0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0001746HP:0001746Asplenia0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0001746HP:0001746Asplenia0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare36
HP:0001746HP:0001746Asplenia0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0001746HP:0001746Asplenia0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare126
HP:0001746HP:0001746Asplenia0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare182
HP:0001746HP:0001746Asplenia0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0001746HP:0001746Asplenia0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0001746HP:0001746Asplenia0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0001746HP:0001746Asplenia0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0001746HP:0001746Asplenia0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0001746HP:0001746Asplenia0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare116
HP:0001746HP:0001746Asplenia0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare78
HP:0001746HP:0001746Asplenia0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare63
HP:0001746HP:0001746Asplenia0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare27
HP:0001746HP:0001746Asplenia0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare62
HP:0001746HP:0001746Asplenia0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0001746HP:0001746Asplenia0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare542
HP:0001746HP:0001746Asplenia0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare527
HP:0001746HP:0001746Asplenia0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare18
HP:0001746HP:0001746Asplenia0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0001746HP:0001746Asplenia0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare73
HP:0001746HP:0001746Asplenia0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare104
HP:0001746HP:0001746Asplenia0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare2
HP:0001746HP:0001746Asplenia0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare167
HP:0001746HP:0001746Asplenia0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare44
HP:0001746HP:0001746Asplenia0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasiaHP:0040283 - Occasional8
HP:0001746HP:0001746Asplenia0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001746HP:0001746Asplenia0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasiaHP:0040283 - Occasional61
HP:0001746HP:0001746Asplenia0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare1
HP:0001746HP:0001746Asplenia0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare9
HP:0001746HP:0001746Asplenia0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0001746HP:0001746Asplenia0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0001746HP:0001746Asplenia0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0001746HP:0001746Asplenia0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0001746HP:0001746Asplenia0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0001746HP:0001746Asplenia0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0001746HP:0001746Asplenia0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0001746HP:0001746Asplenia0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare13
HP:0001746HP:0001746Asplenia0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0001746HP:0001746Asplenia0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001746HP:0001746Asplenia0MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001746HP:0001746Asplenia0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.HP:0003577 - Congenital onset35
HP:0001746HP:0001746Asplenia0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2HP:0040283 - Occasional43
HP:0001746HP:0001746Asplenia0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare50
HP:0001746HP:0001746Asplenia0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0001746HP:0001746Asplenia0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0001746HP:0001746Asplenia0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare201
HP:0001746HP:0001746Asplenia0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0001746HP:0001746Asplenia0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare200
HP:0001746HP:0001746Asplenia0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0001746HP:0001746Asplenia0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0001746HP:0001746Asplenia0RPSA CL E G H39216502OMIM:271400Asplenia, isolated congenital.9
HP:0001746HP:0001746Asplenia0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare31
HP:0001746HP:0001746Asplenia0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare5
HP:0001746HP:0001746Asplenia0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare58
HP:0001746HP:0001746Asplenia0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20
HP:0001746HP:0001746Asplenia0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0001746HP:0001746Asplenia0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare45
HP:0001746HP:0001746Asplenia0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare15
HP:0001746HP:0001746Asplenia0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0001746HP:0001746Asplenia0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0001746HP:0001746Asplenia0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare3
HP:0001746HP:0001746Asplenia0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001746HP:0001746Asplenia0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0001746HP:0001746Asplenia0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0001746HP:0001746Asplenia0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0001746HP:0001746Asplenia0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001746HP:0001746Asplenia0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0001746HP:0001746Asplenia0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0001746HP:0001746Asplenia0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0001746HP:0001746Asplenia0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001746HP:0001746Asplenia0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0001746HP:0001746Asplenia0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0001746HP:0001746Asplenia0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0001746HP:0001746Asplenia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001746HP:0001746Asplenia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0001746HP:0001746Asplenia0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0001746HP:0001746Asplenia0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20


Genes (89) :AIRE B9D1 B9D2 BCL11A CC2D2A CCDC103 CCDC32 CCDC39 CCDC40 CCDC65 CCNO CEP290 CFAP221 CFAP298 CFAP300 CFC1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FAM111A FOXF1 FOXJ1 GAS2L2 GAS8 GDF1 HBB HBG1 HBG2 HMOX1 HYDIN KLF1 LRRC56 MCIDAS MKS1 MNS1 MYCN NEK10 NEK8 NME8 NODAL NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 RPGR RPGRIP1 RPGRIP1L RPSA RSPH1 RSPH3 RSPH4A RSPH9 SMAD2 SPAG1 SPEF2 STIM1 STK36 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC12 TWIST1 TXNDC15 WNT3 ZEB2 ZIC3 ZMYND10

Diseases (27) :OMIM:240300 ORPHA:564 ORPHA:251380 ORPHA:244 OMIM:619123 OMIM:605376 OMIM:244400 OMIM:602361 OMIM:265380 ORPHA:210122 OMIM:208530 OMIM:614034 OMIM:249000 OMIM:618948 OMIM:164280 OMIM:615415 OMIM:270100 OMIM:208540 ORPHA:3204 OMIM:271400 OMIM:619657 OMIM:185070 OMIM:617746 OMIM:273395 ORPHA:261552 ORPHA:261537 OMIM:306955
 

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