Disease #04230 (ACHM (achromatopsia (ACHM)))

Official abbreviation ACHM
Name achromatopsia (ACHM)
OMIM ID -
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00104998 - PubMed: de Castro-Miró 2016 - F yes Saudi Arabia - - 0 - - ACHM - - CNGA3 1 1 Marta de Castro-Miró
00105013 - PubMed: de Castro-Miró 2016 - F yes Saudi Arabia - - 0 - - ACHM - - CNGB3 1 1 Marta de Castro-Miró
00173732 10888875-Fam1 PubMed: Sundin 2000 large multi-generation family, 23 affected, unaffected heterozygous carrier relatives F;M - Micronesia Pingelapese islanders - 0 - - ACHM see paper; ..., total colorblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina; ECG slightly lower than normal rod function, no detectable cone response CNGB3 CNGB3 1 23 Johan den Dunnen
00173733 10888875-Fam2 PubMed: Sundin 2000 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Micronesia Pingelapese islanders - 0 - - ACHM achromatopsia, total colourblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina, healthy, normal intelligence; electroretinography older brother revealed normal rod response, no cone response CNGB3 CNGB3 2 2 Johan den Dunnen
00173737 10888875-Fam3 PubMed: Sundin 2000 affected female F ? Micronesia Pingelapese islanders - 0 - - ACHM horizontal nystagmus, marked photophobia; normal electroretinographic rod response, no detectable cone response CNGB3 CNGB3 1 1 Johan den Dunnen
00173738 10958649-FamCHRO4 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - - white - 0 - - ACHM - CNGB3 CNGB3 1 1 Johan den Dunnen
00173739 10958649-FamCHRO8 PubMed: Kohl 2000 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - - white - 0 - - ACHM - CNGB3 - 0 2 Johan den Dunnen
00173740 10958649-FamCHRO12 PubMed: Kohl 2000 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M - - white - 0 - - ACHM - CNGB3 CNGB3 2 2 Johan den Dunnen
00173741 10958649-FamCHRO17 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - white - 0 - - ACHM - CNGB3 CNGB3 2 1 Johan den Dunnen
00173742 10958649-FamCHRO19 PubMed: Kohl 2000 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - - white - 0 - - ACHM - CNGB3 CNGB3 1 3 Johan den Dunnen
00173743 10958649-FamCHRO56 PubMed: Kohl 2000 2-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F - - white - 0 - - ACHM - CNGB3 CNGB3 1 3 Johan den Dunnen
00173744 10958649-FamCHRO92 PubMed: Kohl 2000 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M - - white - 0 - - ACHM - CNGB3 CNGB3 1 2 Johan den Dunnen
00173745 10958649-FamCHRO120 PubMed: Kohl 2000 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - - white - 0 - - ACHM - CNGB3 CNGB3 1 2 Johan den Dunnen
00173746 10958649-FamCHRO182 PubMed: Kohl 2000 2-generation family, 3 affected (F, 2?), unaffected heterozygous carrier parents/relatives F - - white - 0 - - ACHM - CNGB3 CNGB3 1 3 Johan den Dunnen
00173747 10958649-FamCHRO183 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Micronesia - - 0 - - ACHM - CNGB3 CNGB3 1 1 Johan den Dunnen
00173748 10958649-FamCHRO184 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - white - 0 - - ACHM - CNGB3 CNGB3 1 1 Johan den Dunnen
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