Glaucoma 3, Primary Congenital, E disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glaucoma 3, Primary Congenital, E

MalaCards integrated aliases for Glaucoma 3, Primary Congenital, E:

Name: Glaucoma 3, Primary Congenital, E ⁵⁷ ⁷⁵ ⁶

Glc3e ⁵⁷ ⁷⁵

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:

³²

glaucoma 3, primary congenital, e:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617272

MedGen ⁴² C4310639 CN239932

MeSH ⁴⁴ D005901

SNOMED-CT via HPO ⁶⁹ 263681008 204118005 268158009 more

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Summaries for Glaucoma 3, Primary Congenital, E

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 phenotypes are edema and megalocornea

Description from OMIM: 617272

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Related Diseases for Glaucoma 3, Primary Congenital, E

Diseases in the Juvenile Glaucoma family:

Glaucoma 3, Primary Congenital, a	Glaucoma 3, Primary Infantile, B
Glaucoma 3, Primary Congenital, C	Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, E	Primary Congenital Glaucoma
Glaucoma Type 1c	Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a	Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a	Early-Onset Glaucoma

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Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, E

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
corneal edema
glaucoma, unilateral or bilateral
increased corneal diameter (greater than 10 mm)
haab striae
elevated intraocular pressure (greater than 21 mmhg)
more

Clinical features from OMIM:

617272

Human phenotypes related to Glaucoma 3, Primary Congenital, E:

³²

#	Description	HPO Source Accession
1	edema ³²	HP:0000969
2	megalocornea ³²	HP:0000485
3	increased intraocular pressure ³²	HP:0007906

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Drugs & Therapeutics for Glaucoma 3, Primary Congenital, E

Search Clinical Trials , NIH Clinical Center for Glaucoma 3, Primary Congenital, E

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Genetic Tests for Glaucoma 3, Primary Congenital, E

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Anatomical Context for Glaucoma 3, Primary Congenital, E

MalaCards organs/tissues related to Glaucoma 3, Primary Congenital, E:

⁴¹

Eye

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Publications for Glaucoma 3, Primary Congenital, E

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Genes for Glaucoma 3, Primary Congenital, E

Genes related to Glaucoma 3, Primary Congenital, E (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	1228.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	27270174 20301314

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Variations for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, E:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TEK	p.Cys233Tyr	VAR_078046
2	TEK	p.Tyr611Cys	VAR_078048

ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, E:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TEK	NM_000459.4(TEK): c.921C> A (p.Tyr307Ter)	single nucleotide variant	Pathogenic	rs541217363	GRCh38	Chromosome 9, 27180259: 27180259
2	TEK	NM_000459.4(TEK): c.921C> A (p.Tyr307Ter)	single nucleotide variant	Pathogenic	rs541217363	GRCh37	Chromosome 9, 27180257: 27180257
3	TEK	NM_000459.4(TEK): c.448G> T (p.Glu150Ter)	single nucleotide variant	Pathogenic	rs753021890	GRCh38	Chromosome 9, 27168578: 27168578
4	TEK	NM_000459.4(TEK): c.448G> T (p.Glu150Ter)	single nucleotide variant	Pathogenic	rs753021890	GRCh37	Chromosome 9, 27168576: 27168576

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Expression for Glaucoma 3, Primary Congenital, E

Search GEO for disease gene expression data for Glaucoma 3, Primary Congenital, E.

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Pathways for Glaucoma 3, Primary Congenital, E

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GO Terms for Glaucoma 3, Primary Congenital, E

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Sources for Glaucoma 3, Primary Congenital, E

¹ BioSystems

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⁴⁴ MeSH

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Glaucoma 3, Primary Congenital, E (GLC3E)

Aliases & Classifications for Glaucoma 3, Primary Congenital, E

MalaCards integrated aliases for Glaucoma 3, Primary Congenital, E:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Glaucoma 3, Primary Congenital, E

Related Diseases for Glaucoma 3, Primary Congenital, E

Diseases in the Juvenile Glaucoma family:

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, E

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Glaucoma 3, Primary Congenital, E:

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, E

Genetic Tests for Glaucoma 3, Primary Congenital, E

Anatomical Context for Glaucoma 3, Primary Congenital, E

MalaCards organs/tissues related to Glaucoma 3, Primary Congenital, E:

Publications for Glaucoma 3, Primary Congenital, E

Genes for Glaucoma 3, Primary Congenital, E

Genes related to Glaucoma 3, Primary Congenital, E (1 elite genes):

Variations for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, E:

ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, E:

Expression for Glaucoma 3, Primary Congenital, E

Pathways for Glaucoma 3, Primary Congenital, E

GO Terms for Glaucoma 3, Primary Congenital, E

Sources for Glaucoma 3, Primary Congenital, E