Disease #00356 (MCOP (microphthalmia (MCOP)))

Official abbreviation MCOP
Name microphthalmia (MCOP)
OMIM ID -
Inheritance -
Individuals reported having this disease 72
Phenotype entries for this disease 72
Associated with 1 gene GDF6
Associated tissues -
Disease features -
Remarks -


Individuals

72 entries on 1 page. Showing entries 1 - 72.
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00060206 - - - - - Australia - - 0 - - MCOP coloboma, iris/fundal; microphthalmia BFSP1 BFSP1 1 1 Ivan Prokudin
00060207 - - - - - Australia - - 0 - - MCOP colobomas, iris/fundal; microphthalmia BFSP1 BFSP1 1 1 Ivan Prokudin
00065004 - PubMed: Reis 2010, Journal: Reis 2010 - - no - white - 0 - - MCOP lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc FOXE3 FOXE3 2 1 Deepti Anand
00065005 - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - 0 - - MCOP lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc FOXE3 FOXE3 1 1 Deepti Anand
00065007 - PubMed: Reis 2010, Journal: Reis 2010 - - - Bangladesh - - 0 - - MCOP aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea FOXE3 FOXE3 1 1 Deepti Anand
00065008 - PubMed: Reis 2010, Journal: Reis 2010 - - - - - - 0 - - MCOP aphakia, corneal opacity, glaucoma, microphthalmia FOXE3 FOXE3 1 1 Deepti Anand
00065009 - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - 0 - - MCOP absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia FOXE3 FOXE3 1 1 Deepti Anand
00151411 - - - F no - - - 0 - - MCOP microphthalmia (HP:0000568) - PXDN 1 1 Celia Zazo-Seco
00332073 F1‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332074 F2‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332075 F3‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332076 F4‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332077 F5‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332078 F6‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - ALDH1A3 ALDH1A3 1 1 LOVD
00332079 F7‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - ALDH6A1 ALDH6A1 1 1 LOVD
00332080 F8‐M PubMed: Patel 2017 patient - - Saudi Arabia - - 0 - - MCOP - C12orf57 C12orf57 1 1 LOVD
00332081 F9‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - C12orf57 C12orf57 1 1 LOVD
00332082 F10‐M PubMed: Patel 2017 patient - - Saudi Arabia - - 0 - - MCOP - C12orf57 C12orf57 1 1 LOVD
00332083 F11‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - C12orf57 C12orf57 1 1 LOVD
00332084 F12‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - C12orf57 C12orf57 2 1 LOVD
00332085 F13‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP intellectual disability, mild microphthalmia, coloboma, microcornea CNKSR1 CNKSR1 1 1 LOVD
00332086 F14‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP microphthalmia, microcornea, cataract CRYAA CRYAA 1 1 LOVD
00332087 F15‐M PubMed: Patel 2017 patient - no Saudi Arabia - - 0 - - MCOP hypoplastic columella, flat nasal bridge, micropenis, colobomatous microphthalmia DSC3 DSC3 1 1 LOVD
00332088 F16‐M PubMed: Patel 2017 patient, unaffected heterozygous carrier mother - no Saudi Arabia - - 0 - - MCOP mild microphthalmia, choroido-retinal atrophy, inferior choroidal coloboma, poorly defined optic disc GDF3 GDF3 1 1 LOVD
00332089 F17‐M PubMed: Patel 2017 patient - no Saudi Arabia - - 0 - - MCOP - KMT2D KMT2D 1 1 LOVD
00332090 F18‐M PubMed: Patel 2017 patient - - Saudi Arabia - - 0 - - MCOP - LAMB2 LAMB2 1 1 LOVD
00332091 F19‐M PubMed: Patel 2017 patient - no Saudi Arabia - - 0 - - MCOP - MAB21L2 MAB21L2 1 1 LOVD
00332092 F20‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332093 F21‐Pm PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332094 F22‐PM PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332095 F23‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332096 F24‐PM PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332097 F25‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - MFRP MFRP 1 1 LOVD
00332098 F26‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP colobomatous microphthalmia MYO10 MYO10 1 1 LOVD
00332099 F27‐M PubMed: Patel 2017 patient - no Saudi Arabia - - 0 - - MCOP - OTX2 OTX2 1 1 LOVD
00332100 F28‐M PubMed: Patel 2017 patient - no Saudi Arabia - - 0 - - MCOP - OTX2 OTX2 1 1 LOVD
00332101 F29‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP microphthalmia, anterior segment dysgenesis PAX6 PAX6 1 1 LOVD
00332102 F30‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PITX3 PITX3 1 1 LOVD
00332103 F31‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332104 F32‐PM PubMed: Patel 2017 family - - Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332105 F33‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332106 F34‐PM PubMed: Patel 2017 family - no Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332107 F35‐PM PubMed: Patel 2017 family - no Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332108 F36‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332109 F37‐PM PubMed: Patel 2017 family - no Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332110 F38‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332111 F39‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332112 F40‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332113 F41‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332114 F42‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332115 F43‐PM PubMed: Patel 2017 patient - - Saudi Arabia - - 0 - - MCOP - PRSS56 PRSS56 1 1 LOVD
00332116 F44‐M PubMed: Patel 2017 family - - Saudi Arabia - - 0 - - MCOP - PXDN PXDN 1 1 LOVD
00332117 F45‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - PXDN PXDN 1 1 LOVD
00332118 F46‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - RAB3GAP1 RAB3GAP1 1 1 LOVD
00332119 F47‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - RAB3GAP1 RAB3GAP1 1 1 LOVD
00332120 F48‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - RAB3GAP1 RAB3GAP1 1 1 LOVD
00332121 F49‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - RAB3GAP2 RAB3GAP2 1 1 LOVD
00332122 F50‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - SCLT1 SCLT1 1 1 LOVD
00332123 F51‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - SIX6 SIX6 1 1 LOVD
00332124 F52‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP global developmental delay, failure to thrive, epilepsy, microcephaly, severe microphthalmia SLC18A2 SLC18A2 1 1 LOVD
00332125 F53‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - STRA6 STRA6 1 1 LOVD
00332126 F54‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - STRA6 STRA6 1 1 LOVD
00332127 F55‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - 0 - - MCOP - TBC1D32 TBC1D32 1 1 LOVD
00332128 F56‐M PubMed: Patel 2017 family - yes Saudi Arabia - - 0 - - MCOP - TENM3 TENM3 1 1 LOVD
00332129 F57‐M PubMed: Patel 2017 2-generation family, affected brother/sister F;M yes Saudi Arabia - - 0 - - MCOP colobomatous microphthalmia ZNF219 ZNF219 1 1 LOVD
00336030 - PubMed: Seese 2021, Journal: Seese 2021 2 generation family with 1 affected child (compound heterozygote), unaffected parents (parents not tested for variants) F - - South Asian - - - - MCOP HP:0000568; HP:0000589; HP:0000519 - MAB21L1 2 1 Sarah Seese
00336031 - PubMed: Seese 2021, Journal: Seese 2021 2 generation family: affected child (compound heterozygote) and unaffected parents (one carries coding, other carries noncoding variant) F - Australia white - - - - MCOP HP:0000568; HP:0000589 - MAB21L1 2 1 Sarah Seese
00426470 Fam1Pat1A PubMed: Reis 2021, 3-generation family, affected mother/daughter F - United States - - 0 - - MCOP left eye microphthalmia; fragile hair - PRR12 1 2 Johan den Dunnen
00426471 FamPatB PubMed: Reis 2021 daughter F - United States - - 0 - - MCOP left eye Peters Anomaly, microphthalmia; right eye hyperopia; bilateral nystagmus; mild developmental delay/learning difficulties PRR12 PRR12 1 1 Johan den Dunnen
00426472 Pat2 PubMed: Reis 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - MCOP bilateral iris coloboma, nystagmus and foveal hypoplasia; left eye Peters anomaly, microcornea; right eye persistent fetal vasculature cataract, abnormal blood vessels in iris and cornea - PRR12 1 1 Johan den Dunnen
00426473 Pat3 PubMed: Reis 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - MCOP bilateral Peter's anomaly, left eye microphthalmia, right eye glaucoma; severe intellectual disability, moderate periventricular leukomalacia; short stature, dysmorphic facial features, 4q35.1del - PRR12 1 1 Johan den Dunnen
00426474 Pat4 PubMed: Reis 2021 2-generation family, 1 affected, unaffected parents F - United States - - 0 - - MCOP unilaterla microphthalmia; global delays; short stature - PRR12 1 1 Johan den Dunnen
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