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 ⁷² ²⁹ ⁶

Glc3e ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617272

MeSH ⁴⁴ D005901

MedGen ⁴¹ C4310639 CN239932

SNOMED-CT via HPO ⁶⁸ 112222000 204118005 20741006 more

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Summaries for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot : ⁷² 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 glaucoma and megalocornea

More information 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
Primary Early-Onset Glaucoma	Secondary Early-Onset Glaucoma

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Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, E

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

³¹

#	Description	HPO Source Accession
1	glaucoma ³¹	HP:0000501
2	megalocornea ³¹	HP:0000485
3	edema ³¹	HP:0000969
4	ocular hypertension ³¹	HP:0007906

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

Genetic tests related to Glaucoma 3, Primary Congenital, E:

#	Genetic test	Affiliating Genes
1	Glaucoma 3, Primary Congenital, E ²⁹	TEK

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Anatomical Context for Glaucoma 3, Primary Congenital, E

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

⁴⁰

Eye

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Publications for Glaucoma 3, Primary Congenital, E

Articles related to Glaucoma 3, Primary Congenital, E:

#	Title	Authors	PMID	Year
1	Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ⁵⁷ ⁶	Souma T...Young TL	27270174	2016
2	Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. ⁶¹	Yu-Wai-Man C...Moosajee M	30089822	2018

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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	PubMed IDs
1	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	1343.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27270174

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Variations for Glaucoma 3, Primary Congenital, E

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

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TEK	NM_001290077.1(TEK):c.902-3200C>A	SNV	Pathogenic	374838	rs541217363	GRCh37: 9:27180257-27180257 GRCh38: 9:27180259-27180259
2	TEK	NM_000459.4(TEK):c.448G>T (p.Glu150Ter)	SNV	Pathogenic	374839	rs753021890	GRCh37: 9:27168576-27168576 GRCh38: 9:27168578-27168578
3	TEK	NM_000459.4(TEK):c.578A>G (p.Tyr193Cys)	SNV	Likely pathogenic	804257	rs1587545234	GRCh37: 9:27169577-27169577 GRCh38: 9:27169579-27169579
4	TEK	NM_000459.5(TEK):c.2773G>A (p.Ala925Thr)	SNV	Uncertain significance	930496		GRCh37: 9:27212791-27212791 GRCh38: 9:27212793-27212793
5	TEK	NM_000459.5(TEK):c.922G>A (p.Gly308Arg)	SNV	Uncertain significance	931734		GRCh37: 9:27180258-27180258 GRCh38: 9:27180260-27180260

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

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TEK	p.Cys233Tyr	VAR_078046
2	TEK	p.Tyr611Cys	VAR_078048	rs130652753

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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

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, E

Genetic Tests for Glaucoma 3, Primary Congenital, E

Genetic tests related to 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

Articles related to 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

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

UniProtKB/Swiss-Prot 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