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Entry Name Description Category Pathway Gene
H00635 Aniridia ... either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has ... Congenital malformation (AN1) PAX6 [HSA:5080] [KO:K08031]
(AN2) ELP4 [HSA:26610] [KO:K11375]
(AN3) TRIM44 [HSA:54765] [KO:K12020]
H01027 Microphthalmia Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... Congenital malformation (MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336]
(MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012]
(MCOP5) MFRP [HSA:83552] [KO:K24359]
(MCOP6) PRSS56 [HSA:646960] [KO:K23440]
(MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672]
(MCOP8) ALDH1A3 [HSA:220] [KO:K07249]
(MCOPCB5) SHH [HSA:6469] [KO:K11988]
(MCOPCB7) ABCB6 [HSA:10058] [KO:K05661]
(MCOPCB8) STRA6 [HSA:64220] [KO:K23088]
(MCOPCB9) TENM3 [HSA:55714] [KO:K24473]
(MCOPCB10) RBP4 [HSA:5950] [KO:K18271]
(MCOPCB11) FZD5 [HSA:7855] [KO:K02375]
(MCOPCB12) PAX6 [HSA:5080] [KO:K08031]
(MCOPCB13) NHEJ1 [HSA:79840] [KO:K10980]
H01114 Ocular coloboma ... autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator ... Congenital malformation PAX6 [HSA:5080] [KO:K08031]
SALL2 [HSA:6297] [KO:K19871]
YAP1 [HSA:10413] [KO:K16687]
H01159 Anterior segment dysgenesis Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest ... Congenital malformation (ASGD1) PITX3 [HSA:5309] [KO:K09357]
(ASGD2) FOXE3 [HSA:2301] [KO:K09398]
(ASGD3) FOXC1 [HSA:2296] [KO:K09396]
(ASGD4) PITX2 [HSA:5308] [KO:K04686]
(ASGD5) PAX6 [HSA:5080] [KO:K08031]
(ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
(ASGD7) PXDN [HSA:7837] [KO:K19511]
(ASGD8) CPAMD8 [HSA:27151] [KO:K27774]
H01256 Foveal hypoplasia ... close to the macula. It can be isolated or associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations ... Nervous system disease (FVH1) PAX6 [HSA:5080] [KO:K08031]
(FVH2) SLC38A8 [HSA:146167] [KO:K14994]
(FVH3) AHR [HSA:196] [KO:K09093]
H01273 Autosomal dominant keratitis
Hereditary keratitis 		... rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis. Nervous system disease PAX6 [HSA:5080] [KO:K08031]
H01351 Spastic ataxia Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... Neurodegenerative disease (SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
(SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
(SPAX9) CHP1 [HSA:11261] [KO:K17610]
(SPAX10) COQ4 [HSA:51117] [KO:K18586]
(SPAX11) TUBA4A [HSA:7277] [KO:K07374]
H02203 Optic nerve hypoplasia ... abnormalities, cranial abnormalities, or facial anomalies. Most of cases are sporadic, but autosomal dominant ONH have been identified. It is caused by mutations in PAX6 gene that encodes the transcription factor. Congenital malformation PAX6 [HSA:5080] [KO:K08031]
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