MCID: GLC075
MIFTS: 38

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section


OMIM:45 Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an... (231300) more...

MalaCards based summary: Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset, also known as primary congenital glaucoma, is related to primary congenital glaucoma and open-angle glaucoma, and has symptoms including autosomal recessive inheritance, buphthalmos and heterogeneous. An important gene associated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset is CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1). The compounds leucine and dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include eye.

Aliases & Classifications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset, Aliases & Descriptions:

Name: Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 45 10 22
Primary Congenital Glaucoma 47 60
Glaucoma, Congenital 41 43
Congenital Glaucoma 47 22
Glaucoma 3, Primary Congenital, a 45
 
Hydrophthalmos 60
Buphthalmus 47
Buphthalmos 47
Buphthalmia 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
primary congenital glaucoma:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-9/100000 (Hungary),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Portugal),1-9/100000 (Spain),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 231300
Orphanet47 98976
ICD10 via Orphanet26 Q15.0
ICD1025 Q15.0

Related Diseases for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, P Glaucoma 1, Open Angle, I
Glaucoma 1a, Primary Open Angle glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
Glaucoma, Primary Open Angle, Juvenile-Onset, 2 Glaucoma 1, Open Angle, 1o

Diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1primary congenital glaucoma32.0CYP1B1
2open-angle glaucoma30.2MYOC, CYP1B1
3buphthalmos10.4
4aniridia10.3
5peters anomaly10.3
6glaucoma 3, primary infantile, b10.2
7retinitis10.2
8primary angle-closure glaucoma10.2MYOC
9retinoblastoma10.2
10juvenile glaucoma10.2
11neurofibromatosis10.2
12bowen syndrome10.2
13cutis marmorata telangiectatica congenita10.2
14cyp1b1-related primary congenital glaucoma10.2
15ltbp2-related primary congenital glaucoma10.2
16proteus syndrome, somatic10.1
17oculocerebrorenal syndrome10.1
18endotheliitis10.1
19gapo syndrome10.1
20mandibulofacial dysostosis, guion-almeida type10.1
21hydrocephalus10.1
22weber syndrome10.1
23congenital ectropion uveae10.1
24glaucoma 1a, primary open angle10.0MYOC, CYP1B1
25muscular dystrophy-dystroglycanopathy , type a, 310.0
26saethre-chotzen syndrome10.0
27muscular dystrophy-dystroglycanopathy , type a, 110.0
28persistent hyperplastic primary vitreous, autosomal recessive10.0
29muscular dystrophy-dystroglycanopathy , type a, 210.0
30marfan syndrome10.0
31corneal opacification and other ocular anomalies10.0
32sturge-weber syndrome, somatic, mosaic10.0
33neurofibromatosis, type 110.0
34plexiform neurofibroma10.0
35rubella10.0
36bilateral retinoblastoma10.0
37walker-warburg syndrome10.0
38ganglioneuroma10.0
39chorioretinitis10.0
40congenital syphilis10.0
41ectropion10.0
42elephantiasis10.0
43hydrophthalmos10.0
44nephrotic syndrome10.0
45neurofibroma10.0
46syphilis10.0
47split foot10.0
48split hand10.0
49marshall syndrome9.9
50cataract 429.9

Graphical network of the top 20 diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:



Diseases related to glaucoma 3a, primary open angle, congenital, juvenile, or adult onset

Symptoms for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Symptoms by clinical synopsis from OMIM:

231300

Clinical features from OMIM:

231300

HPO human phenotypes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 buphthalmos HP:0000557
3 heterogeneous HP:0001425
4 increased intraocular pressure HP:0007906
5 late onset congenital glaucoma HP:0008041

Drugs & Therapeutics for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Drug clinical trials:

Search ClinicalTrials for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Search NIH Clinical Center for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Genetic Tests for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Genetic tests related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital22
2 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset22

Anatomical Context for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

MalaCards organs/tissues related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

31
Eye

Animal Models for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult... or affiliated genes

About this section

Publications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

62 (show all 33)
id Symbol AA change Variation ID SNP ID
1CYP1B1p.Gly61GluVAR_001244rs28936700
2CYP1B1p.Gly365TrpVAR_001245rs55771538
3CYP1B1p.Asp374AsnVAR_001246rs28936413
4CYP1B1p.Arg469TrpVAR_001247rs28936701
5CYP1B1p.Glu387LysVAR_008352rs55989760
6CYP1B1p.Arg390HisVAR_008353rs56010818
7CYP1B1p.Pro437LeuVAR_008354rs56175199
8CYP1B1p.Arg368HisVAR_016034rs28936414
9CYP1B1p.Leu77ProVAR_054229
10CYP1B1p.Ala115ProVAR_054230
11CYP1B1p.Met132ArgVAR_054231
12CYP1B1p.Gln144ProVAR_054233
13CYP1B1p.Gln144ArgVAR_054234
14CYP1B1p.Asp192ValVAR_054238
15CYP1B1p.Pro193LeuVAR_054239
16CYP1B1p.Val198IleVAR_054240rs59472972
17CYP1B1p.Asn203SerVAR_054241
18CYP1B1p.Ser215IleVAR_054242
19CYP1B1p.Glu229LysVAR_054243rs57865060
20CYP1B1p.Gly232ArgVAR_054244
21CYP1B1p.Ser239ArgVAR_054245
22CYP1B1p.Val320LeuVAR_054247
23CYP1B1p.Val364MetVAR_054253
24CYP1B1p.Ala388ThrVAR_054254
25CYP1B1p.Arg390CysVAR_054255
26CYP1B1p.Arg390SerVAR_054256
27CYP1B1p.Ile399SerVAR_054257
28CYP1B1p.Asn423TyrVAR_054260
29CYP1B1p.Arg444GlnVAR_054261
30CYP1B1p.Phe445CysVAR_054262
31CYP1B1p.Gly466AspVAR_054263
32CYP1B1p.Glu499GlyVAR_054264
33MYOCp.Gln48HisVAR_054272

Clinvar genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs)deletionPathogenicrs137854895GRCh37Chr 14, 74967677: 74967677
2CYP1B1CYP1B1, PHE261LEUsingle nucleotide variantPathogenic
3LTBP2LTBP2, 1-BP DEL, 412GdeletionPathogenic
4LTBP2LTBP2, 14-BP DEL, NT1243deletionPathogenic
5LTBP2NM_000428.2(LTBP2): c.331C> T (p.Gln111Ter)single nucleotide variantPathogenicrs121918356GRCh37Chr 14, 75078317: 75078317
6LTBP2LTBP2, 1-BP DEL, 1415CdeletionPathogenic
7LTBP2LTBP2, 1-BP DEL, 5376CdeletionPathogenic
8CYP1B1CYP1B1, 13-BP DEL, NT1410deletionPathogenic
9CYP1B1CYP1B1, 1-BP INS, 1209CinsertionPathogenic
10CYP1B1NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu)single nucleotide variantPathogenicrs28936700GRCh37Chr 2, 38302350: 38302350
11CYP1B1CYP1B1, 10-BP DUP, NT1546duplicationPathogenic
12CYP1B1NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp)single nucleotide variantPathogenicrs28936701GRCh37Chr 2, 38298092: 38298092
13CYP1B1NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn)single nucleotide variantPathogenicrs104893622GRCh37Chr 2, 38298377: 38298377
14CYP1B1NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys)single nucleotide variantPathogenicrs55989760GRCh37Chr 2, 38298338: 38298338
15CYP1B1CYP1B1, 1-BP DEL, 4339GdeletionPathogenic
16CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394
17CYP1B1NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg)single nucleotide variantPathogenicrs104893628GRCh37Chr 2, 38301838: 38301838
18CYP1B1CYP1B1, 1-BP DEL, 3979AdeletionPathogenic
19CYP1B1NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr)single nucleotide variantPathogenicrs104893629GRCh37Chr 2, 38298230: 38298230

Expression for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
Search GEO for disease gene expression data for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset.

Pathways for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Compounds for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
Sources:
43Novoseek, 49PharmGKB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1leucine439.3MYOC, CYP1B1
2dexamethasone43 49 28 1212.3MYOC, CYP1B1
3cycloheximide439.2MYOC, CYP1B1
4steroid439.0MYOC, CYP1B1

GO Terms for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Cellular components related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056159.1LTBP2, MYOC
2extracellular matrixGO:00310128.8LTBP2, MYOC

Products for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet