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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 statue and normal body proportions caused by growth hormone ... Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD1B) GHRHR [HSA:2692] [KO:K04584]
(IGHD3) BTK [HSA:695] [KO:K07370]
(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]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
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]
H01667 Medulloblastoma Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... Cancer hsa04310 Wnt signaling pathway
hsa04340 Hedgehog signaling pathway
PTCH1 (mutation) [HSA:5727] [KO:K06225]
SUFU (mutation) [HSA:51684] [KO:K06229]
SMO (mutation) [HSA:6608] [KO:K06226]
Axin1 (mutation) [HSA:8312] [KO:K02157]
Axin2 (mutation) [HSA:8313] [KO:K04385]
APC (mutation) [HSA:324 10297] [KO:K02085]
CTNNB1 (mutation) [HSA:1499] [KO:K02105]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TP53 (mutation) [HSA:7157] [KO:K04451]
NF2 (mutation) [HSA:4771] [KO:K16684]
MEN1 (mutation) [HSA:4221] [KO:K14970]
hTERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
KDM6A (mutation) [HSA:7403] [KO:K11447]
H02036 Combined pituitary hormone deficiency ... 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 phenotypes, from ... Endocrine 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]
H02170 Microphthalmia, syndromic Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... Congenital malformation (MCOPS1) NAA10 [HSA:8260] [KO:K20791]
(MCOPS2) BCOR [HSA:54880] [KO:K23215]
(MCOPS3) SOX2 [HSA:6657] [KO:K16796]
(MCOPS5) OTX2 [HSA:5015] [KO:K18490]
(MCOPS6) BMP4 [HSA:652] [KO:K04662]
(MCOPS7) HCCS [HSA:3052] [KO:K01764]
(MCOPS9) STRA6 [HSA:64220] [KO:K23088]
(MCOPS11) VAX1 [HSA:11023] [KO:K09318]
(MCOPS12) RARB [HSA:5915] [KO:K08528]
(MCOPS13) HMGB3 [HSA:3149] [KO:K11296]
(MCOPS14) MAB21L2 [HSA:10586]
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