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MCID: GLC089
MIFTS: 16
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Glaucoma 3, Primary Congenital, E
Categories:
Genetic diseases, Rare diseases, Eye diseases, Fetal diseases
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MalaCards integrated aliases for Glaucoma 3, Primary Congenital, E:Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset ranging from birth to 2 years in most patients some patients have onset in later decades variable expressivity within families HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases |
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UniProtKB/Swiss-Prot
:
75
Glaucoma 3, primary congenital, E: An autosomal dominant form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
MalaCards based summary : Glaucoma 3, Primary Congenital, E, is also known as glc3e. An important gene associated with Glaucoma 3, Primary Congenital, E is TEK (TEK Receptor Tyrosine Kinase). Affiliated tissues include eye, and related phenotype is megalocornea.
Description from OMIM:
617272
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617272Human phenotypes related to Glaucoma 3, Primary Congenital, E:32
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MalaCards organs/tissues related to Glaucoma 3, Primary Congenital, E:41
Eye
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Genes related to Glaucoma 3, Primary Congenital, E (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, E:75
ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, E:6
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Search
GEO
for disease gene expression data for Glaucoma 3, Primary Congenital, E.
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