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Entry Name Description Category Pathway Gene
H00436 Osteopetrosis The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00450 Worth type autosomal dominant osteosclerosis
Endosteal hyperostosis 		... hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt. Congenital malformation LRP5 [HSA:4041] [KO:K03068]
H00451 Osteoporosis-pseudoglioma syndrome Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG. Congenital malformation LRP5 [HSA:4041] [KO:K03068]
H00486 Sclerosteosis ... stature. This disease is due to loss-of-function mutations in the SOST gene, a protein that binds to LRP5/6 and antagonizes Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling ... Congenital malformation (SOST1) SOST [HSA:50964] [KO:K16834]
(SOST2) LRP4 [HSA:4038] [KO:K20051]
H00545 Polycystic liver disease Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients ... Congenital malformation (PCLD1) PRKCSH [HSA:5589] [KO:K08288]
(PCLD2) SEC63 [HSA:11231] [KO:K09540]
(PCLD3) ALG8 [HSA:79053] [KO:K03849]
(PCLD4) LRP5 [HSA:4041] [KO:K03068]
H00589 Familial exudative vitreoretinopathy ... cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and ... Nervous system disease (EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693] [KO:K25688]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
(EVR6) ZNF408 [HSA:79797] [KO:K24372]
(EVR7) CTNNB1 [HSA:1499] [KO:K02105]
H01593 Osteoporosis Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values ... Musculoskeletal disease (BMND1) LRP5 [HSA:4041] [KO:K03068]
(BMND12) UGT2B17 [HSA:7367] [KO:K00699]
(BMND15) MIR2861 [HSA:100422910]
(BMND16) WNT1 [HSA:7471] [KO:K03209]
(BMND17) LGR4 [HSA:55366] [KO:K04309]
(BMND18) PLS3 [HSA:5358] [KO:K17336]
(OPDD) COPB2 [HSA:9276] [KO:K17302]
PDLIM4 [HSA:8572] [KO:K23353]
CALCR [HSA:799] [KO:K04576]
COL1A1 [HSA:1277] [KO:K06236]
COL1A2 [HSA:1278] [KO:K06236]
H01774 Hyperostosis corticalis generalisata ... production of sclerostin. Sclerostin, the gene product of SOST, is an inhibitor of the canonical Wnt signaling pathway. Hyperostosis corticalis generalisata can be caused by a mutation in the LRP5 gene. Musculoskeletal disease (VBCH) SOST [HSA:50964] [KO:K16834]
LRP5 [HSA:4041] [KO:K03068]
H01897 Oocyte/zygote/embryo maturation arrest Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... Reproductive system disease (OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]
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