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	congenital glaucoma

Disease ID	110
Disease	congenital glaucoma
Definition	Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.
Synonym	buphthalmia buphthalmos buphthalmos (disorder) buphthalmos (finding) buphthalmos nos buphthalmos nos (disorder) buphthalmos, nos buphthalmos, unspecified buphthalmos, unspecified (disorder) buphtmalmos childhood glaucoma congenital glaucoma (disorder) congenital glaucoma [ambiguous] glaucoma, congenital glaucoma, infantile glaucoma, newborn glc3 hydrophthalmos hydrophthalmos (disorder) hydrophthalmos [disease/finding] infantile glaucoma juvenile glaucoma megophthalmos newborn glaucoma pediatric glaucoma unspecified buphthalmos nos unspecified buphthalmos nos (disorder)
Orphanet	ORPHANET:98976 ORPHANET:98977
OMIM	OMIM:231300
DOID	DOID:11212 DOID:11211 DOID:1068
ICD10	ICD10CM:Q15.0
UMLS	C0020302
MeSH	D006871
SNOMED-CT	SNOMEDCT_US_2016_09_01:204113001;SNOMEDCT_US_2016_09_01:413728006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:28) C0017601 \| glaucoma \| 4 C0085113 \| neurofibromatosis \| 3 C0456909 \| blindness \| 2 C0003076 \| aniridia \| 2 C0339594 \| traumatic glaucoma \| 2 C0035305 \| retinal detachment \| 2 C0020302 \| congenital glaucoma \| 2 C0002418 \| amblyopia \| 1 C0035309 \| retinal disease \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C0020538 \| hypertension \| 1 C0013080 \| trisomy 21 \| 1 C0265202 \| seckel syndrome \| 1 C0456909 \| vision loss \| 1 C0042164 \| uveitis \| 1 C0013592 \| ectropion \| 1 C0040034 \| thrombocytopenia \| 1 C0035309 \| retinal diseases \| 1 C0027092 \| myopia \| 1 C0012236 \| 22q11.2 deletion syndrome \| 1 C0035333 \| retinitis \| 1 C0003081 \| anisometropia \| 1 C0268579 \| propionic acidemia \| 1 C0011847 \| diabetes \| 1 C0035334 \| retinitis pigmentosa \| 1 C0796075 \| axenfeld-rieger syndrome \| 1 C0028840 \| ocular hypertension \| 1 C0004106 \| astigmatism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 10133 \| OPTN \| UNIPROT 1545 \| CYP1B1 \| CLINVAR;UNIPROT 4053 \| LTBP2 \| CLINVAR;UNIPROT 4653 \| MYOC \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1545 \| CYP1B1 \| CIPHER 4653 \| MYOC \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:42) 284 \| ANGPT1 \| 1.493 \| DISEASES 284 \| ANGPT1 \| 1.474 \| DISEASES 1121 \| CHM \| 2.232 \| DISEASES 1121 \| CHM \| 2.213 \| DISEASES 1282 \| COL4A1 \| 2.322 \| DISEASES 1282 \| COL4A1 \| 2.172 \| DISEASES 1282 \| COL4A1 \| 2.153 \| DISEASES 79147 \| FKRP \| 2.304 \| DISEASES 79147 \| FKRP \| 2.285 \| DISEASES 2296 \| FOXC1 \| 4.423 \| DISEASES 2296 \| FOXC1 \| 3.982 \| DISEASES 2296 \| FOXC1 \| 3.963 \| DISEASES 2303 \| FOXC2 \| 2.189 \| DISEASES 2303 \| FOXC2 \| 2.17 \| DISEASES 2596 \| GAP43 \| 1.877 \| DISEASES 2596 \| GAP43 \| 1.859 \| DISEASES 3316 \| HSPB2 \| 1.216 \| DISEASES 3316 \| HSPB2 \| 1.197 \| DISEASES 3481 \| IGF2 \| 2.509 \| DISEASES 3481 \| IGF2 \| 2.491 \| DISEASES 348120 \| LINC01193 \| 2.563 \| DISEASES 4237 \| MFAP2 \| 1.764 \| DISEASES 4237 \| MFAP2 \| 1.746 \| DISEASES 4288 \| MKI67 \| 2.111 \| DISEASES 10763 \| NES \| 1.098 \| DISEASES 10763 \| NES \| 1.079 \| DISEASES 4763 \| NF1 \| 2.66 \| DISEASES 4763 \| NF1 \| 2.641 \| DISEASES 5080 \| PAX6 \| 2.857 \| DISEASES 5080 \| PAX6 \| 2.838 \| DISEASES 5080 \| PAX6 \| 2.403 \| DISEASES 5251 \| PHEX \| 1.323 \| DISEASES 10908 \| PNPLA6 \| 2.125 \| DISEASES 10585 \| POMT1 \| 2.623 \| DISEASES 10585 \| POMT1 \| 2.605 \| DISEASES 6711 \| SPTBN1 \| 1.578 \| DISEASES 6711 \| SPTBN1 \| 1.559 \| DISEASES 7010 \| TEK \| 1.413 \| DISEASES 7010 \| TEK \| 1.394 \| DISEASES 7042 \| TGFB2 \| 1.403 \| DISEASES 8266 \| UBL4A \| 2.945 \| DISEASES 134430 \| WDR36 \| 2.737 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) MYOC \| 1q24.3 CYP1B1 \| 2p22.2 LTBP2 \| 14q24.3 TEK \| 9p21.2

Disease ID	110
Disease	congenital glaucoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0000501 \| Glaucoma HP:0000572 \| Visual loss HP:0001052 \| Nevus flammeus HP:0000541 \| Retinal detachment
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0000501 \| Glaucoma \| 4 HP:0001067 \| Neurofibromas \| 3 HP:0000557 \| Buphthalmos \| 2 HP:0000572 \| Visual loss \| 2 HP:0001083 \| Dislocated lenses \| 2 HP:0000518 \| Cataract \| 2 HP:0000541 \| Detached retina \| 2 HP:0000969 \| Dropsy \| 2 HP:0000526 \| Absent iris \| 2 HP:0000483 \| Astigmatism \| 2 HP:0001087 \| Childhood glaucoma \| 2 HP:0000618 \| Blindness \| 2 HP:0007700 \| Anterior segment dysgenesis \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000613 \| Extreme light sensitivity \| 1 HP:0007957 \| Corneal clouding \| 1 HP:0000545 \| Near sightedness \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0009916 \| Asymmetric pupil sizes \| 1 HP:0012230 \| Rhegmatogenous retinal detachment \| 1 HP:0000646 \| Wandering eyes \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001873 \| Low platelet count \| 1 HP:0012803 \| Anisometropia \| 1 HP:0000656 \| Ectropion \| 1 HP:0000822 \| Hypertension \| 1 HP:0000554 \| Uveitis \| 1 HP:0001500 \| Broad fingers \| 1 HP:0001065 \| Purplish striae \| 1

Disease ID	110
Disease	congenital glaucoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:16) C1963229 \| retinal detachment C1963137 \| hydrocephalus C1735375 \| progressive optic neuropathy C1644185 \| suprachoroidal hemorrhage C0936016 \| complete androgen insensitivity C0595921 \| intraocular pressure C0456909 \| loss of vision C0456909 \| blindness C0344530 \| megalocornea C0263401 \| telangiectatica congenita C0079504 \| oculocutaneous albinism C0035321 \| retinal holes C0027831 \| neurofibromatosis 1 C0010037 \| corneal oedema C0010037 \| corneal edema C0002418 \| amblyopia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0021888 \| intraocular pressure \| 4 C0456909 \| blindness \| 2 C0035305 \| retinal detachment \| 2 C0013592 \| ectropion \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893622	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38071234	C	T
rs104893622	12807732	1545	CYP1B1	umls:C0020302	BeFree	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437Leu and Arg469Tryp) dramatically decreased the capacity of CYP1B1 to convert (-)benzo[a]pyrene-7R-trans-7,8-dihyrodiol (B[a]P-7,8-diol) to (+/-)benzo[a]pyrene-r-7,t-8-dihydrodiol-9,10-epoxides.	0.134701468	2003	CYP1B1	2	38071234	C	T
rs104893628	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1;LOC105374860	2	38074695	C	G
rs104893629	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38071087	T	A
rs137854895	NA	4053	LTBP2	umls:C0020302	CLINVAR	NA	0.120542884	NA	LTBP2	14	74500974	G	-
rs28936700	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1;LOC105374860	2	38075207	C	T
rs28936700	21306220	1545	CYP1B1	umls:C0020302	BeFree	On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucoma but novel CYP1B1 mutations continue to be documented.	0.134701468	2011	CYP1B1;LOC105374860	2	38075207	C	T
rs28936700	21596299	4653	MYOC	umls:C0020302	BeFree	The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.	0.004810009	2011	CYP1B1;LOC105374860	2	38075207	C	T
rs28936700	21596299	1545	CYP1B1	umls:C0020302	BeFree	Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.	0.134701468	2011	CYP1B1;LOC105374860	2	38075207	C	T
rs28936700	12807732	1545	CYP1B1	umls:C0020302	BeFree	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437Leu and Arg469Tryp) dramatically decreased the capacity of CYP1B1 to convert (-)benzo[a]pyrene-7R-trans-7,8-dihyrodiol (B[a]P-7,8-diol) to (+/-)benzo[a]pyrene-r-7,t-8-dihydrodiol-9,10-epoxides.	0.134701468	2003	CYP1B1;LOC105374860	2	38075207	C	T
rs28936701	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38070949	G	A
rs55771538	12807732	1545	CYP1B1	umls:C0020302	BeFree	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437Leu and Arg469Tryp) dramatically decreased the capacity of CYP1B1 to convert (-)benzo[a]pyrene-7R-trans-7,8-dihyrodiol (B[a]P-7,8-diol) to (+/-)benzo[a]pyrene-r-7,t-8-dihydrodiol-9,10-epoxides.	0.134701468	2003	CYP1B1	2	38071261	C	G,A
rs55771538	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38071261	C	G,A
rs55989760	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38071195	C	T,G
rs56175199	12807732	1545	CYP1B1	umls:C0020302	BeFree	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437Leu and Arg469Tryp) dramatically decreased the capacity of CYP1B1 to convert (-)benzo[a]pyrene-7R-trans-7,8-dihyrodiol (B[a]P-7,8-diol) to (+/-)benzo[a]pyrene-r-7,t-8-dihydrodiol-9,10-epoxides.	0.134701468	2003	CYP1B1	2	38071044	G	A,T
rs72549387	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1;LOC105374860	2	38075218	C	T,G
rs79204362	NA	1545	CYP1B1	umls:C0020302	CLINVAR	NA	0.134701468	NA	CYP1B1	2	38071251	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000541	Retinal detachment	MP:0003099	retinal detachment	detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma
HP:0000572	Visual loss	MP:0011352	proximal convoluted tubule brush border loss	attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes

Mapped by homologous gene(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001052	Nevus flammeus	MP:0013956	decreased colon length	reduced length of the portion of the large intestine between the cecum and the rectum
HP:0000541	Retinal detachment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000501	Glaucoma	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000572	Visual loss	MP:0020194	abnormal glycosphingolipid level	any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body

Disease ID	110
Disease	congenital glaucoma
Case	(Waiting for update.)

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