PedAM

Pediatric Disease Annotations & Medicines


	hydrophthalmos

Disease ID	481
Disease	hydrophthalmos
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 congenital glaucoma (disorder) congenital glaucoma [ambiguous] glaucoma, congenital glaucoma, infantile glaucoma, newborn glc3 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:11) C0017601 \| glaucoma \| 3 C0020302 \| congenital glaucoma \| 2 C0013592 \| ectropion \| 1 C0042164 \| uveitis \| 1 C0005747 \| blepharospasm \| 1 C0339594 \| traumatic glaucoma \| 1 C0268579 \| propionic acidemia \| 1 C0796075 \| axenfeld-rieger syndrome \| 1 C0027092 \| myopia \| 1 C0003081 \| anisometropia \| 1 C0010037 \| corneal edema \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) CYP1B1 \| 1545 \| CLINVAR;ORPHANET LTBP2 \| 4053 \| CLINVAR;ORPHANET TEK \| 7010 \| ORPHANET MYOC \| 4653 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1545 \| CYP1B1 \| infer 4653 \| MYOC \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:90) 4653 \| MYOC \| DISEASES 4653 \| MYOC \| DISEASES 4653 \| MYOC \| DISEASES 54332 \| GDAP1 \| DISEASES 54332 \| GDAP1 \| DISEASES 2218 \| FKTN \| DISEASES 2218 \| FKTN \| DISEASES 3315 \| HSPB1 \| DISEASES 3315 \| HSPB1 \| DISEASES 2006 \| ELN \| DISEASES 6382 \| SDC1 \| DISEASES 1545 \| CYP1B1 \| DISEASES 1545 \| CYP1B1 \| DISEASES 1545 \| CYP1B1 \| DISEASES 29954 \| POMT2 \| DISEASES 29954 \| POMT2 \| DISEASES 2324 \| FLT4 \| DISEASES 2324 \| FLT4 \| DISEASES 4053 \| LTBP2 \| DISEASES 4053 \| LTBP2 \| DISEASES 10133 \| OPTN \| DISEASES 10133 \| OPTN \| DISEASES 10133 \| OPTN \| DISEASES 4036 \| LRP2 \| DISEASES 4036 \| LRP2 \| DISEASES 3938 \| LCT \| DISEASES 25793 \| FBXO7 \| DISEASES 25793 \| FBXO7 \| DISEASES 6010 \| RHO \| DISEASES 6010 \| RHO \| DISEASES 4131 \| MAP1B \| DISEASES 4131 \| MAP1B \| DISEASES 4909 \| NTF4 \| DISEASES 8988 \| HSPB3 \| DISEASES 8988 \| HSPB3 \| DISEASES 5308 \| PITX2 \| DISEASES 5308 \| PITX2 \| DISEASES 5308 \| PITX2 \| DISEASES 171558 \| PTCRA \| DISEASES 285590 \| SH3PXD2B \| DISEASES 285590 \| SH3PXD2B \| DISEASES 3265 \| HRAS \| DISEASES 1427 \| CRYGS \| DISEASES 1427 \| CRYGS \| DISEASES 1605 \| DAG1 \| DISEASES 1605 \| DAG1 \| DISEASES 285 \| ANGPT2 \| DISEASES 285 \| ANGPT2 \| DISEASES 2303 \| FOXC2 \| DISEASES 2303 \| FOXC2 \| DISEASES 79147 \| FKRP \| DISEASES 79147 \| FKRP \| DISEASES 6711 \| SPTBN1 \| DISEASES 6711 \| SPTBN1 \| DISEASES 1121 \| CHM \| DISEASES 1121 \| CHM \| DISEASES 4763 \| NF1 \| DISEASES 4763 \| NF1 \| DISEASES 7042 \| TGFB2 \| DISEASES 10763 \| NES \| DISEASES 10763 \| NES \| DISEASES 4288 \| MKI67 \| DISEASES 8266 \| UBL4A \| DISEASES 10585 \| POMT1 \| DISEASES 10585 \| POMT1 \| DISEASES 4237 \| MFAP2 \| DISEASES 4237 \| MFAP2 \| DISEASES 1282 \| COL4A1 \| DISEASES 1282 \| COL4A1 \| DISEASES 1282 \| COL4A1 \| DISEASES 5080 \| PAX6 \| DISEASES 5080 \| PAX6 \| DISEASES 5080 \| PAX6 \| DISEASES 5251 \| PHEX \| DISEASES 7010 \| TEK \| DISEASES 7010 \| TEK \| DISEASES 2296 \| FOXC1 \| DISEASES 2296 \| FOXC1 \| DISEASES 2296 \| FOXC1 \| DISEASES 2596 \| GAP43 \| DISEASES 2596 \| GAP43 \| DISEASES 3481 \| IGF2 \| DISEASES 3481 \| IGF2 \| DISEASES 10908 \| PNPLA6 \| DISEASES 134430 \| WDR36 \| DISEASES 284 \| ANGPT1 \| DISEASES 284 \| ANGPT1 \| DISEASES 3316 \| HSPB2 \| DISEASES 3316 \| HSPB2 \| DISEASES 348120 \| LINC01193 \| DISEASES
Locus	(Waiting for update.)

Disease ID	481
Disease	hydrophthalmos
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0000501 \| Glaucoma \| 3 HP:0001087 \| Childhood glaucoma \| 2 HP:0000656 \| Ectropion \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0000554 \| Uveitis \| 1 HP:0012803 \| Anisometropia \| 1 HP:0000969 \| Dropsy \| 1 HP:0000545 \| Near sightedness \| 1 HP:0000613 \| Extreme light sensitivity \| 1 HP:0000643 \| Spontaneous closure of eyelid \| 1

Disease ID	481
Disease	hydrophthalmos
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0013592 \| ectropion \| 1

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

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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