Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the anterior pituitary (HP:0011750)help
Parent Node:
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Pituitary adenoma (HP:0002893)help
..Starting node
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Pituitary corticotropic cell adenoma (HP:0008291)help
Term ID: 8291
Name: Pituitary corticotropic cell adenoma
Synonym: ACTH-producing pituitary adenoma; Corticotropin-secreting pituitary adenoma
Definition: A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).
Comments:
Reference: HP:0008291
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPituitary acidophilic stem cell adenoma (HP:0011758) help
..expandPituitary gonadotropic cell adenoma (HP:0011759) help
..expandPituitary growth hormone cell adenoma (HP:0011760) help
..expandPituitary null cell adenoma (HP:0011761) help
..expandPituitary prolactin cell adenoma (HP:0006767) help
..expandPituitary thyrotropic cell adenoma (HP:0011762) 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:0008291HP:0008291Pituitary corticotropic cell adenoma0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0008291HP:0008291Pituitary corticotropic cell adenoma0USP8 CL E G H910112631ORPHA:96253Cushing disease7


Genes (12) :ATRX BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C MEN1 NR3C1 TP53 USP48 USP8

Diseases (3) :ORPHA:96253 ORPHA:652 ORPHA:276152
 

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