Human Phenotype Ontology 
Grandparent Node:
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Abnormal glial cell morphology (HP:0100705)help
Grandparent Node:
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Malignant neoplasm of the central nervous system (HP:0100836)help
Grandparent Node:
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Neuroepithelial neoplasm (HP:0030063)help
Parent Node:
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Abnormal astrocyte morphology (HP:0100707)help
Parent Node:
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Glioma (HP:0009733)help
..Starting node
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Astrocytoma (HP:0009592)help
Term ID: 9592
Name: Astrocytoma
Synonym:
Definition: Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Comments:
Reference: HP:0009592
Genes and Diseases:
 
       Child Nodes:
........expandSubependymal giant-cell astrocytoma (HP:0009718) help

 Sister Nodes: 
..expandBrainstem glioma (HP:0010796) help
..expandCerebellar glioma (HP:0010795) help
..expandEpendymoma (HP:0002888) help
..expandGlioblastoma multiforme (HP:0012174) help
..expandOptic nerve glioma (HP:0009734) 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:0009592HP:0009592Astrocytoma0APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0009592HP:0009592Astrocytoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0009592HP:0009592Astrocytoma0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0009592HP:0009592Astrocytoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0009592HP:0009592Astrocytoma0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0009592HP:0009592Astrocytoma0BRCA2 CL E G H6751101OMIM:613029Glioma susceptibility 3.7642
HP:0009592HP:0009592Astrocytoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0009592HP:0009592Astrocytoma0CDKN2A CL E G H10291787OMIM:155755Melanoma-Astrocytoma syndrome.289
HP:0009592HP:0009592Astrocytoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0009592HP:0009592Astrocytoma0ERBB2 CL E G H20643430OMIM:137800Glioma susceptibility 1.77
HP:0009592HP:0009592Astrocytoma0IDH1 CL E G H34175382OMIM:137800Glioma susceptibility 1.15
HP:0009592HP:0009592Astrocytoma0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0009592HP:0009592Astrocytoma0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0009592HP:0009592Astrocytoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0009592HP:0009592Astrocytoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0009592HP:0009592Astrocytoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0009592HP:0009592Astrocytoma0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0009592HP:0009592Astrocytoma0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 4.5
HP:0009592HP:0009592Astrocytoma0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0009592HP:0009592Astrocytoma0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0009592HP:0009592Astrocytoma0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0009592HP:0009592Astrocytoma0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040284 - Very rare220
HP:0009592HP:0009592Astrocytoma0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0009592HP:0009592Astrocytoma0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0009592HP:0009592Astrocytoma0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0009592HP:0009592Astrocytoma0POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 9.23
HP:0009592HP:0009592Astrocytoma0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0009592HP:0009592Astrocytoma0TP53 CL E G H715711998OMIM:137800Glioma susceptibility 1.911
HP:0009592HP:0009592Astrocytoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0009592HP:0009592Astrocytoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0009592HP:0009592Astrocytoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009592HP:0009592Astrocytoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0009592HP:0009592Astrocytoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0009592HP:0033680Pilocytic astrocytoma1 CL E G H
HP:0009592HP:0009718Subependymal giant-cell astrocytoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0009592HP:0009718Subependymal giant-cell astrocytoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009592HP:0033682Pleomorphic xanthoastrocytoma1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0009592HP:0009718Subependymal giant-cell astrocytoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0009592HP:0009718Subependymal giant-cell astrocytoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0009592HP:0009718Subependymal giant-cell astrocytoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (22) :APC APC2 BRCA2 CDKN2A CHEK2 ERBB2 IDH1 IDH2 IFNG MDM2 MLH1 MSH3 MSH6 NF1 NF2 NSD1 PMS2 POT1 SETD2 TP53 TSC1 TSC2

Diseases (22) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:821 OMIM:613029 ORPHA:524 OMIM:155755 OMIM:137800 ORPHA:163634 ORPHA:805 OMIM:613254 OMIM:276300 OMIM:617100 ORPHA:480536 OMIM:619097 OMIM:162200 ORPHA:637 OMIM:101000 OMIM:619101 OMIM:616568 OMIM:191100
 

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