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Entry Name Description Category Pathway Gene
H00255 Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate ... Endocrine and metabolic disease (HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413]
(HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
(HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
(HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
(HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
(HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
(HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
(HH8) KISS1R [HSA:84634] [KO:K08374]
(HH9) NSMF [HSA:26012] [KO:K23844]
(HH10) TAC3 [HSA:6866] [KO:K05240]
(HH11) TACR3 [HSA:6870] [KO:K04224]
(HH12) GNRH1 [HSA:2796] [KO:K05252]
(HH13) KISS1 [HSA:3814] [KO:K23140]
(HH14) WDR11 [HSA:55717] [KO:K24260]
(HH15) HS6ST1 [HSA:9394] [KO:K02514]
(HH16) SEMA3A [HSA:10371] [KO:K06840]
(HH17) SPRY4 [HSA:81848] [KO:K17385]
(HH18) IL17RD [HSA:54756] [KO:K05167]
(HH19) DUSP6 [HSA:1848] [KO:K21946]
(HH20) FGF17 [HSA:8822] [KO:K04358]
(HH21) FLRT3 [HSA:23767] [KO:K16362]
(HH22) FEZF1 [HSA:389549] [KO:K24502]
(HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
(HH24/IFSHD) FSHB [HSA:2488] [KO:K05250]
(HH25) NDNF [HSA:79625] [KO:K25687]
(HH26) TCF12 [HSA:6938] [KO:K15603]
(HH27) NHLH2 [HSA:4808] [KO:K09075]
H00599 Ovarian dysgenesis
46,XX gonadal dysgenesis 		Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... Reproductive system disease (ODG1) FSHR [HSA:2492] [KO:K04247]
(ODG2) BMP15 [HSA:9210] [KO:K05498]
(ODG3) PSMC3IP [HSA:29893] [KO:K06695]
(ODG4) MCM9 [HSA:254394] [KO:K10738]
(ODG5) SOHLH1 [HSA:402381] [KO:K22495]
(ODG6) NUP107 [HSA:57122] [KO:K14301]
(ODG7) MRPS22 [HSA:56945] [KO:K17401]
(ODG8) ESR2 [HSA:2100] [KO:K08551]
(ODG9) SPIDR [HSA:23514] [KO:K22806]
(ODG10) ZSWIM7 [HSA:125150] [KO:K25770]
(ODG11) HROB [HSA:78995] [KO:K27803]
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome 		... hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. Reproductive system disease WNT4 [HSA:54361] [KO:K00408]
H00607 46,XY gonadal dysgenesis Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial ... Reproductive system disease (SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(SRXY10) SOX9 [HSA:6662] [KO:K18435]
(SRXY11) DHX37 [HSA:57647] [KO:K14780]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]
H00627 Premature ovarian failure ... amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental ... Reproductive system disease (POF1) FMR1 [HSA:2332] [KO:K15516]
(POF2A) DIAPH2 [HSA:1730] [KO:K05741]
(POF2B) POF1B [HSA:79983] [KO:K23917]
(POF3) FOXL2 [HSA:668] [KO:K09405]
(POF4) BMP15 [HSA:9210] [KO:K05498]
(POF5) NOBOX [HSA:135935] [KO:K24199]
(POF6) FIGLA [HSA:344018] [KO:K09066]
(POF7) NR5A1 [HSA:2516] [KO:K08560]
(POF8) STAG3 [HSA:10734] [KO:K13055]
(POF9) HFM1 [HSA:164045] [KO:K15271]
(POF10) MCM8 [HSA:84515] [KO:K10737]
(POF11) ERCC6 [HSA:2074] [KO:K10841]
(POF12) SYCE1 [HSA:93426] [KO:K19534]
(POF13) MSH5 [HSA:4439] [KO:K08741]
(POF14) GDF9 [HSA:2661] [KO:K22673]
(POF15) FANCM [HSA:57697] [KO:K10896]
(POF16) BNC1 [HSA:646] [KO:K24146]
(POF17) XRCC2 [HSA:7516] [KO:K10879]
(POF18) C14orf39 [HSA:317761] [KO:K25705]
(POF19) HSF2BP [HSA:11077] [KO:K25791]
(POF20) MSH4 [HSA:4438] [KO:K08740]
(POF21) TP63 [HSA:8626] [KO:K10149]
(POF22) KASH5 [HSA:147872] [KO:K22595]
(POF23) MEIOB [HSA:254528] [KO:K22420]
(POF24) SYCP2L [HSA:221711] [KO:K19529]
(POF25) SPATA22 [HSA:84690] [KO:K22421]
(POF26) MGA [HSA:23269] [KO:K23399]
H00937 Precocious puberty ... gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin ... Endocrine and metabolic disease (CEPREPU) KISS1R [HSA:84634] [KO:K08374]
(FMPP) LHCGR [HSA:3973] [KO:K04248]
H01663 Pustular psoriasis ... cyclosporine, methotrexate, and infliximab are considered to be first-line therapies for those with GPP. Adalimumab, etanercept, and psoralen plus ultraviolet A are second-line modalities in this setting. Pustular ... Immune system disease; Skin disease
H02018 Central precocious puberty Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator ... Endocrine and metabolic disease (CPPB1) KISS1R [HSA:84634] [KO:K08374]
(CPPB2) MKRN3 [HSA:7681] [KO:K15687]
H02318 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal ... development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation. Reproductive system disease RSPO1 [HSA:284654] [KO:K19471]
H02578 Short stature, microcephaly, and endocrine dysfunction ... microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations ... Congenital malformation XRCC4 [HSA:7518] [KO:K10886]
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