Disease #05323 (MYP (myopia (MYP)))

Official abbreviation MYP
Name myopia (MYP)
OMIM ID -
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 17
Associated with 4 genes ARR3, PLOD1, SLC39A5, ZNF644
Associated tissues -
Disease features -
Remarks -
Date created 2017-09-01 15:07:55 +02:00 (CEST)
Date last edited N/A


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00296617 - - - - - - - - - - - MYP high myopia, X-linked ARR3 ARR3 1 1 Dejian Yuan
00300233 FamXF1 PubMed: Xiao 2016 6-generation family, 19 affected (19F) F - China - - - - - MYP onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases ARR3 ARR3 1 19 Johan den Dunnen
00300234 FamXF2 PubMed: Xiao 2016 4-generation family, 11 affected (11F) F - China - - - - - MYP onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases ARR3 ARR3 1 11 Johan den Dunnen
00300235 FamXF3 PubMed: Xiao 2016 5-generation family, 6 affected (6F) F - China - - - - - MYP onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases ARR3 ARR3 1 6 Johan den Dunnen
00300237 HM241 PubMed: Liu 2020 - M - China - - - - - MYP refraction spherical equivalent OD –9.25, OS –11.25 ARR3 ARR3 1 1 Johan den Dunnen
00300238 HM750 PubMed: Liu 2020 - M - China - - - - - MYP onset early childhood, early onset high myopia, recently complicated retinal detachment right eye; refraction spherical equivalent OS –16.00 ARR3 ARR3 1 1 Johan den Dunnen
00300239 HM736 PubMed: Liu 2020 - M - China - - - - - MYP onset early childhood; refraction spherical equivalent OD –8.00, OS –20.50 SLC39A5 SLC39A5 1 1 Johan den Dunnen
00300240 HM448 PubMed: Liu 2020 - F - China - - - - - MYP refraction spherical equivalent OD –11.50, OS –12.00 NDUFAF7 NDUFAF7 1 1 Johan den Dunnen
00300241 HM601 PubMed: Liu 2020 - M - China - - - - - MYP refraction spherical equivalent OD –11.00, OS –13.00 ZNF644 ZNF644 1 1 Johan den Dunnen
00300242 HM657 PubMed: Liu 2020 - M - China - - - - - MYP onset early childhood; refraction spherical equivalent OD –16.50, OS –16.00 ZNF644 ZNF644 1 1 Johan den Dunnen
00300243 HM528 PubMed: Liu 2020 - M - Spain - - - - - MYP refraction spherical equivalent OD –17.00, OS –17.50 NDUFAF7 NDUFAF7 1 1 Johan den Dunnen
00300244 HM241 PubMed: Liu 2020 - M - Spain - - - - - MYP refraction spherical equivalent OD –9.25, OS –11.25 BSG BSG 1 1 Johan den Dunnen
00300245 HM305 PubMed: Liu 2020 - M - Spain - - - - - MYP onset early childhood; refraction spherical equivalent OD –13.00, OS –13.00 ARR3 ARR3 1 1 Johan den Dunnen
00307904 - PubMed: Doll 2020 - - yes Pakistan - - - - - HL, MYP - - SLITRK6 1 2 Barbara Vona
00318125 Family 122 PubMed: Kloss et al., 2017 This variant is associated with high myopia, and cosegregated with the phenotype.The technique used was whole exome sequencing. - - Denmark Danish - - - - MYP - PLOD1 PLOD1 1 1 Raymond Dalgleish
00419899 Pat16 PubMed: Angelozzi 2022 2-generation family, 1 affected, mildly affected mother M - - - - - - - MYP, NDD birth 40w; no IUGR; failure to thrive; picky eating, weight loss; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10-11m-sit; 36m-walk; speech delay, 11m-first words; intellectual disability, IQ not formally assessed by neuropsychologist; behavioral problems; no hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; EEG normal; headaches with emesis 2-3 days a week; Prescribed glasses, presumably because of myopia; no strabismus; normal hearing; broad forehead, small palpebral fissures, triangular face with pointed chin, low-set and posteriorly rotated ears; skin lesions (tags vs nevi); 5y-poor dentition with pulpectomy and crowns; slender fingers with broader thumbs and halluxes, prominent heels; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings - SLC39A5, SOX4 2 1 Johan den Dunnen
00431163 FamHM1 PubMed: Tian 2023 4-generation family, 8 affected (6F, 2M) F;M - China - - - - - MYP high myopia - GLRA2 1 8 Johan den Dunnen
00431164 FamH2 PubMed: Tian 2023 4-generation family, 12 affected (9F, 3M) F;M - China - - - - - MYP high myopia - GLRA2 1 12 Johan den Dunnen
00431165 FamH3 PubMed: Tian 2023 4-generation family, 5 affected (3F, 2M) F;M - China - - - - - MYP high myopia - GLRA2 1 5 Johan den Dunnen
00431166 PatM21227 PubMed: Tian 2023 - - - China - - - - - MYP high myopia GLRA2 GLRA2 1 1 Johan den Dunnen
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