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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Glaucoma (D005901)
..Starting node ..Glaucoma 3, Primary Congenital, A (C565547)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Ackerman syndrome (C538170)
..Bowen syndrome (C538164)
..Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..Dyssegmental Dysplasia with Glaucoma (C563290)
..Early-Onset Glaucoma (C580055)
..Friedreich ataxia congenital glaucoma (C538061)
..GEMSS syndrome (C537679)
..Ghose Sachdev Kumar syndrome (C537803)
..Glaucoma 1, Open Angle, O (C567753)
..Glaucoma 3, Primary Congenital, A (C565547)
..GLAUCOMA 3, PRIMARY CONGENITAL, C (OMIM:613085)
..Glaucoma 3, Primary Congenital, D (C567765)
..Glaucoma 3, primary infantile, B (C536824)
..Glaucoma and Sleep Apnea (C564232)
..Glaucoma Iridogoniodysplasia, Familial (C566650)
..Glaucoma, Angle-Closure (D015812) 1
..Glaucoma, Neovascular (D015355)
..GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
..Glaucoma, Open-Angle (D005902) 18
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Iris hypoplasia and glaucoma (C535538)
..Lowry Maclean syndrome (C537037)
..MacKay Shek Carr syndrome (C538364)
..Microcornea, glaucoma, and absent frontal sinuses (C537552)
..Microspherophakia (C563255)
..Peters anomaly with cataract (C537885)
..Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
..Tetralogy of fallot and glaucoma (C536501)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4633

Name:

Glaucoma 3, Primary Congenital, A

Definition:

Alternative IDs:

OMIM:231300

ParentIDs:

MESH:D005901

TreeNumbers:

C11.525.381/C565547

Synonyms:

BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED |GLAUCOMA, CONGENITAL |GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED |GLC3 |GLC3A

Slim Mappings:

Eye disease

Reference:

MedGen: C565547
MeSH: C565547
OMIM: 231300;

Genes: CYP1B1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008041	Late onset congenital glaucoma
3	HP:0000557	Buphthalmos
4	HP:0001425	Heterogeneous
5	HP:0007906	Ocular hypertension

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000104.3(CYP1B1):c.1409G>A (p.Cys470Tyr)	1545	CYP1B1	not provided	104894979	RCV000082861;	N	MedGen:C0020302,OMIM:231300	2	38298088	38298088	NM_000104.3:c.1409G>A	NP_000095.2:p.Cys470Tyr	NC_000002.11:g.38298088C>T	-	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp)	1545	CYP1B1	Pathogenic	28936701	RCV000008172;	N	MedGen:C0020302,OMIM:231300	2	38298092	38298092	NM_000104.3:c.1405C>T	NP_000095.2:p.Arg469Trp	NC_000002.11:g.38298092G>A	OMIM Allelic Variant:601771.0006	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr)	1545	CYP1B1	Pathogenic	104893629	RCV000008184; RCV000008183;	N	MedGen:C0020302,OMIM:231300; MedGen:CN069082	2	38298230	38298230	NM_000104.3:c.1267A>T	NP_000095.2:p.Asn423Tyr	NC_000002.11:g.38298230T>A	OMIM Allelic Variant:601771.0016	C0020302 231300 Glaucoma, congenital; CN069082 Glaucoma, primary open angle, juvenile-onset
NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys)	1545	CYP1B1	Pathogenic	55989760	RCV000008174;	N	MedGen:C0020302,OMIM:231300	2	38298338	38298338	NM_000104.3:c.1159G>A	NP_000095.2:p.Glu387Lys	NC_000002.11:g.38298338C>T	OMIM Allelic Variant:601771.0008,OMIM Allelic Variant:601771.0014	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn)	1545	CYP1B1	Pathogenic	104893622	RCV000008173;	N	MedGen:C0020302,OMIM:231300	2	38298377	38298377	NM_000104.3:c.1120G>A	NP_000095.2:p.Asp374Asn	NC_000002.11:g.38298377C>T	OMIM Allelic Variant:601771.0007	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His)	1545	CYP1B1	Pathogenic;Uncertain significance	79204362	RCV000023146; RCV000008178; RCV000078123; RCV000059335;	N	Human Phenotype Ontology:HP:0000589,Human Phenotype Ontology:HP:0007767,Human Phenotype Ontology:HP:0007995,MedGen:CN000552; MedGen:C0020302,OMIM:231300; MedGen:C4016760; MedGen:CN221809	2	38298394	38298394	NM_000104.3:c.1103G>A	NP_000095.2:p.Arg368His	NC_000002.11:g.38298394C>T	HGMD:CM000137,OMIM Allelic Variant:601771.0012	CN000552 Coloboma; C0020302 231300 Glaucoma, congenital; C4016760 Glaucoma, early-onset, digenic; CN221809 not provided
NM_000104.3(CYP1B1):c.1093G>T (p.Gly365Trp)	1545	CYP1B1	Pathogenic	55771538	RCV000008171;	N	MedGen:C0020302,OMIM:231300	2	38298404	38298404	NM_000104.3:c.1093G>T	NP_000095.2:p.Gly365Trp	NC_000002.11:g.38298404C>A	OMIM Allelic Variant:601771.0005	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.694G>C (p.Gly232Arg)	1545	CYP1B1	Pathogenic	104893628	RCV000008179;	N	MedGen:C0020302,OMIM:231300	2	38301838	38301838	NM_000104.3:c.694G>C	NP_000095.2:p.Gly232Arg	NC_000002.11:g.38301838C>G	OMIM Allelic Variant:601771.0013	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.625_626delTG (p.Cys209Phefs)	1545	CYP1B1	not provided	104894980	RCV000082863;	N	MedGen:C0020302,OMIM:231300	2	38301906	38301907	NM_000104.3:c.625_626delTG	NP_000095.2:p.Cys209Phefs	NC_000002.11:g.38301906_38301907delCA	-	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.487C>T (p.Arg163Cys)	1545	CYP1B1	not provided	104894978	RCV000082862;	N	MedGen:C0020302,OMIM:231300	2	38302045	38302045	NM_000104.3:c.487C>T	NP_000095.2:p.Arg163Cys	NC_000002.11:g.38302045G>A	-	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu)	1545	CYP1B1	Pathogenic	28936700	RCV000008169;	N	MedGen:C0020302,OMIM:231300	2	38302350	38302350	NM_000104.3:c.182G>A	NP_000095.2:p.Gly61Glu	NC_000002.11:g.38302350C>T	OMIM Allelic Variant:601771.0003	C0020302 231300 Glaucoma, congenital
NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)	1545	CYP1B1	Pathogenic	72549387	RCV000008176; RCV000169657;	N	MedGen:C0020302,OMIM:231300; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	2	38302361	38302361	NM_000104.3:c.171G>A	NP_000095.2:p.Trp57Ter	NC_000002.11:g.38302361C>T	OMIM Allelic Variant:601771.0010	C0020302 231300 Glaucoma, congenital; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000428.2(LTBP2):c.5376delC (p.Cys1793Alafs)	4053	LTBP2	Pathogenic	137854895	RCV000114816;	N	MedGen:C0020302,OMIM:231300	14	74967677	74967677	NM_000428.2:c.5376delC	NP_000419.1:p.Cys1793Alafs	NC_000014.8:g.74967677delG	-	C0020302 231300 Glaucoma, congenital