loading...| Preferred Name |
Cataract, Congenital |
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| Synonyms |
PathwayType: signaling PMID: 15558493 Organ: eye Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-c7898796-67c1-4606-be7c-e81011d944f7 CellType: epithelial cell Organ_System: sensory system PMID: 15110667 Description: Congenital cataract (CC) is a common cause of visual disability in children. Pathway is built manually using published studies. Notes: Headnote: Cataract is clouding of the eye's lens that affects vision. Congenital cataract (CC) is a common cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents one third of all cases. Signaling description: At least 22 genes associated with isolated inherited cataract have been identified including crystallin genes, such as CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYGD, and CRYGS, four membrane protein genes including GJA3, GJA8, MIP, and LIM2, transcription factor genes such as MAF and HSF4, and cytoskeletal protein genes including BFSP1 and BFSP2. Outcome effects: The molecular mechanisms of CC are associated with either protein misfolding seen in the case of mutations in CRYBB1, CRYBB2, CRYGC, CRYGD, and CRYGS or their aggregation caused by mutations in CRYAA and/or CRYAB. In addition, impaired crystallin expression is observed when MAF is mutated. An additional mechanism of CC is based on the disruption of transport between lens cells due to mutations in the genes of aquaporin (MIP) and gap junction proteins such as GJA3 and GJA8. Mutations in these genes lead to reduced glutathione and ROS accumulation, which are the important mediators of different types of cataract including CC. Mutations in MIP gene lead to separation of the lens structural molecules due to water accumulation in the lens cells. Lastly, beaded filaments including BFSP1 and BFSP2 are lens cell-specific intermediate filaments, which help maintain lens transparency. Mutations in these genes lead to cytoskeleton disorganization and light scattering. Highlighted proteins: Entities with increased level of activity are highlighted in red, and entities with decreased level of activity are highlighted in blue. Mutated proteins: Mutated genes are shown in white-out style. NodeType: Pathway Source: Diseases |
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| ID |
urn:agi-pathway:uuid-c7898796-67c1-4606-be7c-e81011d944f7 |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Organ PS:Source |
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| has_exact_synonym |
PathwayType: signaling PMID: 15558493 Organ: eye CellType: epithelial cell Organ_System: sensory system PMID: 15110667 Description: Congenital cataract (CC) is a common cause of visual disability in children. Pathway is built manually using published studies. Notes: Headnote: Cataract is clouding of the eye's lens that affects vision. Congenital cataract (CC) is a common cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents one third of all cases. Signaling description: At least 22 genes associated with isolated inherited cataract have been identified including crystallin genes, such as CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYGD, and CRYGS, four membrane protein genes including GJA3, GJA8, MIP, and LIM2, transcription factor genes such as MAF and HSF4, and cytoskeletal protein genes including BFSP1 and BFSP2. Outcome effects: The molecular mechanisms of CC are associated with either protein misfolding seen in the case of mutations in CRYBB1, CRYBB2, CRYGC, CRYGD, and CRYGS or their aggregation caused by mutations in CRYAA and/or CRYAB. In addition, impaired crystallin expression is observed when MAF is mutated. An additional mechanism of CC is based on the disruption of transport between lens cells due to mutations in the genes of aquaporin (MIP) and gap junction proteins such as GJA3 and GJA8. Mutations in these genes lead to reduced glutathione and ROS accumulation, which are the important mediators of different types of cataract including CC. Mutations in MIP gene lead to separation of the lens structural molecules due to water accumulation in the lens cells. Lastly, beaded filaments including BFSP1 and BFSP2 are lens cell-specific intermediate filaments, which help maintain lens transparency. Mutations in these genes lead to cytoskeleton disorganization and light scattering. Highlighted proteins: Entities with increased level of activity are highlighted in red, and entities with decreased level of activity are highlighted in blue. Mutated proteins: Mutated genes are shown in white-out style. NodeType: Pathway Source: Diseases |
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| id |
urn:agi-pathway:uuid-c7898796-67c1-4606-be7c-e81011d944f7 |
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| label |
Cataract, Congenital |
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| notation |
uuid-c7898796-67c1-4606-be7c-e81011d944f7 |
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| prefLabel |
Cataract, Congenital |
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| treeView |
urn:agi-folder:plasma_membrane urn:agi-folder:c urn:agi-folder:cataract urn:agi-folder:sensory_system |
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| subClassOf |
urn:agi-folder:plasma_membrane urn:agi-folder:c urn:agi-folder:cataract urn:agi-folder:sensory_system |