Disease #00219 (LCA9 (Leber congenital amaurosis, type 9 (LCA-9)), OMIM:608553)

Official abbreviation LCA9
Name Leber congenital amaurosis, type 9 (LCA-9)
OMIM ID 608553
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 67
Phenotype entries for this disease 22
Associated with 1 gene NMNAT1
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-02 12:35:43 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

67 entries on 1 page. Showing entries 1 - 67.
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00003027 - PubMed: Neveling 2013 Previous tests done: LCA-A, LCA5 - - - - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Marcel Nelen
00032720 - - 2-generation family, patient and unaffected heterozygous carrier parents F no India North India - - - - LCA9 Lebers Congenital Amaurosis NMNAT1 NMNAT1 1 1 Soumittra Nagasamy
00032721 - - 2-generation family, 1 affected and unaffected heterozygous carrier parents M yes India South India - - - - LCA9 Lebers Congenital Amaurosis NMNAT1 NMNAT1 1 1 Soumittra Nagasamy
00046335 26316326-F1 PubMed: Coppieters 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Niger - - - - - LCA9 see paper; ... - NMNAT1 9 3 Frauke Coppieters
00046336 26316326-F2 PubMed: Coppieters 2015 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Morocco - - - - - LCA9 - - NMNAT1 1 2 Frauke Coppieters
00046498 26316326-F3 PubMed: Coppieters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Frauke Coppieters
00046499 26316326-F4 PubMed: Coppieters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Frauke Coppieters
00046501 - - - M no Belgium - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Frauke Coppieters
00046502 - - - M no Belgium - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Frauke Coppieters
00046503 - - - F no - - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Frauke Coppieters
00046505 - - - M ? - - - - - - LCA9 - NMNAT1 NMNAT1 1 1 Frauke Coppieters
00046506 - - - ? ? - - - - - - LCA9 - NMNAT1 NMNAT1 1 1 Frauke Coppieters
00046582 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/children F no Canada French >56y - - - LCA9 see paper; no light perception, counting fingers vision, hyperopia, nystagmus, pseudophakia, … NMNAT1 NMNAT1 2 2 Johan den Dunnen
00046583 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother/sister M no Canada French >13y - - - LCA9 see paper; counting fingers vision, hyperopia, nystagmus, … NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046584 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - European - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046585 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - >10y - - - LCA9 see paper; no light perception, hyperopia, nystagmus, … NMNAT1 NMNAT1 1 1 Johan den Dunnen
00046586 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Irish >33y - - - LCA9 see paper; 20/2000vision, hyperopia, nystagmus, … NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046587 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 - - - Russian Federation - >41y - - - LCA9 see paper; counting fingers vision, hyperopia, nystagmus, … NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046588 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 - - - Haiti African >10y - - - LCA9 see paper; counting fingers vision, hyperopia, nystagmus, … NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046589 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 4-generation family, 8 affecteds (7F, 1M), unaffected heterozygous carrier parents/sibs - yes Pakistan - - - - - LCA9 see paper; age 2-30y, light perception vision, congenital visual loss, nystagmus, nyctalopia, 8/8 have acquired macular colobomas, cataracts (PSCC), white retinal dots, retinal pigment, 1/8 has keratoconus, … NMNAT1 NMNAT1 1 8 Johan den Dunnen
00046612 - PubMed: Falk 2012, Journal: Falk 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister F no United States Asian - - - - LCA9 see paper; ... NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046613 - PubMed: Falk 2012, Journal: Falk 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States African-American - - - - LCA9 see paper; ... NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046614 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - LCA9 - NMNAT1 NMNAT1 1 1 Johan den Dunnen
00046615 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - LCA9 - - - - 1 Johan den Dunnen
00046804 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046805 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - LCA9 - NMNAT1 NMNAT1 1 1 Johan den Dunnen
00046806 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States European - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046807 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean, Sri Lankan - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046808 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046809 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Caribbean, Irish - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046810 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States Polish - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046811 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States British - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046812 - PubMed: Falk 2012, Journal: Falk 2012 - - - United States British - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046813 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046814 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046815 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046816 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046817 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046818 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046819 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046820 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046821 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046822 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046823 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046824 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046825 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046826 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046827 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046828 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046829 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046830 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046831 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046832 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046833 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 1 1 Johan den Dunnen
00046834 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046835 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States Chinese, Hispanic;Cherokee, Hispanic - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046836 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil European - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046837 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil Brazilian - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046838 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada European, west - - - - LCA9 - NMNAT1 NMNAT1 3 1 Johan den Dunnen
00046839 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Brazil African-Protugese;Hispanic - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046840 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada Greek - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046841 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046842 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - United States European - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046843 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada British;Dutch - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046844 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Canada British;Dutch - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00046845 - PubMed: Chiang 2012, Journal: Chiang 2012 - - - Australia Australian, English - - - - LCA9 - NMNAT1 NMNAT1 2 1 Johan den Dunnen
00436605 1546360 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE LCA9 Blindness HP:0000618, Retinitis pigmentosa HP:0000510 NMNAT1 NMNAT1 2 1 Rocio Villafuerte-de la Cruz
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