| Clinical feature / phenotype | Suggested HPO term(s) | Typical laboratory / imaging findings supported by evidence | Reported tumor subtype / context | Evidence |
|---|---|---|---|---|
| Acromegaly / GH excess | HP:0001510 Acromegaly; HP:0000829 Growth hormone excess | High GH or IGF-1 reported in affected carriers; one 48-year-old man with CDH23 p.E302D had an acromegaly–prolactinoma macroadenoma | GH-secreting pituitary adenoma; mixed acromegaly–prolactinoma macroadenoma | (pqac-00000000, pqac-00000002) |
| Cushing disease / ACTH excess | HP:0000846 Hypercortisolism; HP:0011748 Increased circulating ACTH level | ACTH-secreting corticotroph PitNETs reported; CDH23-mutant patient-derived iPSC organoids showed corticotroph-like trajectories and tumor behavior; a Turkish FIPA family with CDH23 p.Ala765Val included an ACTH-secreting adenoma | Corticotroph PitNET / ACTH-secreting pituitary adenoma | (pqac-00000001, pqac-00000003) |
| Prolactinoma / hyperprolactinemia with hypogonadism | HP:0002904 Hyperprolactinemia; HP:0000824 Hypogonadotropic hypogonadism; HP:0008245 Central hypothyroidism | Ultra-giant prolactinoma case: prolactin 277,500 ng/mL; extensive sellar, supra/parasellar, skull-base and nasopharyngeal involvement; associated mild central hypothyroidism and hypogonadotropic hypogonadism; marked clinical/radiologic response to low-dose cabergoline | Prolactinoma, specifically ultra-giant prolactinoma | (pqac-00000007, pqac-00000011) |
| Nonfunctioning macroadenoma | HP:0000818 Abnormality of the endocrine system; HP:0000505 Visual impairment (possible mass effect, when present) | CDH23 p.A366T identified in a 22-year-old woman with a nonfunctioning macroadenoma; by definition, nonfunctioning tumors lack a hypersecretory hormonal syndrome in the excerpt | Nonfunctioning pituitary macroadenoma | (pqac-00000002) |
| Macroadenoma / large invasive tumor burden | HP:0001085 Macroadenoma; HP:0012813 Pituitary mass | Macroadenomas were reported in sporadic CDH23-variant carriers; giant prolactinomas are defined as pituitary adenomas ≥4 cm with plasma prolactin >1000 ng/mL; invasive extension into skull base/nasopharynx described in one CDH23 case | Macroadenoma; giant/ultra-giant prolactinoma | (pqac-00000002, pqac-00000011) |
| Invasiveness / extensive local extension | HP:0033690 Invasive neoplasm; HP:0012813 Pituitary mass | In the discovery study, non-CDH23 cases were noted to have larger, more invasive tumors; later CDH23-associated prolactinoma case showed extensive infiltrative sellar/suprasellar/parasellar and skull-base disease | Invasive PitNET behavior reported across familial/sporadic contexts; especially giant prolactinoma | (pqac-00000026, pqac-00000007) |
| Possible reduced/age-dependent penetrance | HP:0003829 Variable expressivity (suggested); HP:0003677 Slow progression (suggested disease predisposition context) | Two family members carrying the segregating CDH23 variant were phenotypically unaffected but were younger than 30 years, suggesting incomplete or age-dependent penetrance rather than absence of risk | Familial CDH23-associated pituitary adenoma predisposition | (pqac-00000000, pqac-00000026) |


*Table: This table maps the main clinically reported manifestations of CDH23-associated pituitary adenoma/PitNET cases to suggested HPO terms, alongside the supporting lab and imaging findings. It is useful for structuring phenotype annotations in a disease knowledge base while keeping each row tied to published evidence.*