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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00254 |
Growth hormone deficiency Pituitary dwarfism |
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... | Endocrine and metabolic disease |
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] (PD2) GHR [HSA:2690] [KO:K05080] (PHPX) SOX3 [HSA:6658] [KO:K09267] (GHDP) GHSR [HSA:2693] [KO:K04284] |
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| H00544 | Septo-optic dysplasia | Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction. | Congenital malformation |
HESX1 [HSA:8820] [KO:K09354] SOX2 [HSA:6657] [KO:K16796] SOX3 [HSA:6658] [KO:K09267] OTX2 [HSA:5015] [KO:K18490] |
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| H02036 | Combined pituitary hormone deficiency | ... hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary ... | Endocrine and metabolic disease |
(CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] |
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