Version May 2024
| Gene | Phenotype | Inheritance |
| Isolated hormone abnormalities | ||
| GH1 | Isolated GH deficiency | AR, AD |
| GHRHR | Isolated GH deficiency | AR |
| TSHB | Isolated TSH deficiency | AR |
| TRHR | Isolated TSH deficiency | AR |
| TPIT | Isolated ACTH deficiency | AR |
| GnRHR | HH | AR |
| PC1 | ACTH deficiency, hypoglycemia, HH, obesity | AR |
| POMC | ACTH deficiency, obesity, red hair | AR |
| DAX1 | Adrenal hypoplasia congenital and HH | XL |
| CRH | CRH deficiency | AR |
| KAL1 | Kallmann syndrome, renal agenesis, synkinesia | XL |
| FGFR1 | Kallmann syndrome, cleft lip and palate, facial dysmorphism | AD, AR |
| Leptin | HH, obesity | AR |
| Leptin-R | HH, obesity | AR |
| GPR54 | HH | AR |
| Kisspeptin | HH | AR |
| FSHB | Primary amenorrhea, defective spermatogenesis | AR |
| LHB | Delayed puberty | AR |
| PROK2 | Kallmann syndrome, severe sleep disorder, obesity | AD |
| PROKR2 | Kallmann syndrome | AD, AR |
| AVP-NPII | Diabetes insipidus | AR, AD |
| Combined pituitary hormone deficiency | ||
| POU1F1 | GH, TSH, and prolactin deficiencies | AR, AD |
| PROP1 | GH, TSH, LH, FSH, prolactin, and evolving ACTH deficiencies | AR |
| Specific syndrome | ||
| HESX1 | Septo-optic dysplasia | AR, AD |
| LHX3 | GH, TSH, LH, FSH, prolactin deficiencies, limited neck rotation | AR |
| LHX4 | GH, TSH, ACTH deficiencies with cerebellar abnormalities | AD |
| SOX3 | Hypopituitarism and intellectual disability | XL |
| GLI2 | Holoprosencephaly and multiple midline defects | AD |
| SOX2 | Anophthalmia, hypopituitarism, esophageal atresia | AD |
| GLI3 | Pallister-Hall syndrome | AD |
| PITX2 | Rieger syndrome | AD |
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