Disease #04344 (OPA9 (atrophy, optic, type 9 (OPA-9)), OMIM:616289)

Official abbreviation OPA9
Name atrophy, optic, type 9 (OPA-9)
OMIM ID 616289
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ACO2
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00302655 Subject 1 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected M no United States Hispanic ancestry - - - - neuropathy, optic, OPA9 Strabismus (HP:0000486); Abnormality of vision (HP:0000504); Myopia (HP:0000545); Visual loss (HP:0000572); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Tonsillitis (HP:0011110); Temporal optic disc pallor (HP:0012511); Abnormal best corrected visual acuity test (HP:0030534); Pituitary gland cyst (HP:0410278) ACO2 ACO2 2 2 Khadidja Guehlouz
00302656 Subject 2 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected F no United States Hispanic ancestry - - - - neuropathy, optic, OPA9 Astigmatism (HP:0000483); Visual impairment (HP:0000505); Myopia (HP:0000545); Color vision defect (HP:0000551); Visual loss (HP:0000572); Exotropia (HP:0000577); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Hypoplasia of the optic tract (HP:0007096); Abnormality of optic chiasm morphology (HP:0025163); Abnormal best corrected visual acuity test (HP:0030534) ACO2 ACO2 2 1 Khadidja Guehlouz
00449557 - - - M no - white - - - - OPA9 HP:0000364, HP:0000505, HP:0000540, HP:0000587, HP:0001249, HP:0001252, HP:0001270, HP:0001290, HP:0002011, HP:0002539, HP:0002977, HP:0007009, HP:0007367, HP:0008058, HP:0012758, HP:0040075 - ACO2 1 1 Marketa Wayhelova
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.