PedAM

Pediatric Disease Annotations & Medicines


	optic atrophy 1

Disease ID	802
Disease	optic atrophy 1
Definition	Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Synonym	atrophies, juvenile optic atrophies, kjer-type optic atrophy, juvenile optic atrophy, kjer's optic atrophy, kjer-type optic autosomal dominant optic atrophy autosomal dominant optic atrophy classic form autosomal dominant optic atrophy classic form (disorder) autosomal dominant optic atrophy kjer type dominant hereditary optic atrophy dominant hereditary optic atrophy (disorder) dominant optic atrophies dominant optic atrophy juvenile optic atrophies juvenile optic atrophy kjer optic atrophy kjer type optic atrophy kjer's optic atrophy kjer-type optic atrophies kjer-type optic atrophy kjers optic atrophy opa1 optic atrophies, dominant optic atrophies, juvenile optic atrophies, kjer-type optic atrophy 1s optic atrophy type 1 optic atrophy, autosomal dominant optic atrophy, autosomal dominant [disease/finding] optic atrophy, dominant optic atrophy, dominant hereditary optic atrophy, hereditary, autosomal dominant optic atrophy, juvenile optic atrophy, kjer type optic atrophy, kjer's optic atrophy, kjer-type
Orphanet	ORPHANET:98672
OMIM	OMIM:165500 OMIM:605290
UMLS	C0338508
MeSH	D029241
SNOMED-CT	SNOMEDCT_US_2016_09_01:2065009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0152013 \| lung adenocarcinoma \| 1 C0524851 \| neurodegenerative disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) OPA1 \| 4976 \| CLINVAR;CTD_human;OMIM;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	802
Disease	optic atrophy 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0030078 \| Lung adenocarcinoma \| 1

Disease ID	802
Disease	optic atrophy 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:30)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893753	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193643005	C	T
rs11258194	16885188	10133	OPTN	umls:C0338508	BeFree	To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON).	0.000542884	2006	OPTN	10	13110400	T	A
rs121908375	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193637280	G	A
rs143319805	19319978	4976	OPA1	umls:C0338508	UNIPROT	The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here.	0.525531067	2009	OPA1	3	193643378	A	G
rs143319805	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193643378	A	G
rs143929819	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193692127	A	C,G
rs151103940	16617242	4976	OPA1	umls:C0338508	UNIPROT	OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.	0.525531067	2006	OPA1	3	193614929	A	G
rs190223702	18158317	4976	OPA1	umls:C0338508	UNIPROT	OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.	0.525531067	2008	OPA1	3	193642978	G	A
rs190235251	19319978	4976	OPA1	umls:C0338508	UNIPROT	The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here.	0.525531067	2009	OPA1;LOC102724808	3	193659547	C	G,T
rs28939082	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193637980	G	A
rs387906930	21538838	7466	WFS1	umls:C0338508	BeFree	Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.	0.000542884	2011	WFS1	4	6301846	C	T
rs398124297	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193644014	T	-
rs398124298	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193647110	C	A
rs398124299	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193647144	C	T
rs398124301	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193658977	C	T
rs398124303	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193638064	A	C,G
rs727504058	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193617262	T	A
rs727504059	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193637282	G	A
rs727504060	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193643419	T	A,G
rs794727069	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193643431	C	T
rs794727289	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193614982	TTAAAACTTC	-
rs794727345	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193657125	GA	-
rs794727392	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193662963	G	T
rs794727405	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193664952	C	T
rs794727804	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193631622	AA	-
rs80356528	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193642846	G	T
rs80356529	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193643996	G	A
rs80356529	14644237	4976	OPA1	umls:C0338508	BeFree	The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.	0.525531067	2003	OPA1	3	193643996	G	A
rs80356530	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1;LOC102724808	3	193667170	TTAG	-
rs80356531	NA	4976	OPA1	umls:C0338508	CLINVAR	NA	0.525531067	NA	OPA1	3	193692070	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)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0338508	ethambutol	D004977	74-55-5	optic atrophy, autosomal dominant	MESH:D029241	marker/mechanism	19900585

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

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