Table 1 of
Gregory-Evans, Mol Vis 2025; 31:319-343. Table 1 of
Gregory-Evans, Mol Vis 2025; 31:319-343.
Table 1. Human diseases associated with foveal hypoplasia.
| Omim ID | Disease | Inheritance | Chromosome | Gene name |
|---|---|---|---|---|
| 300500 | Ocular albinism 1 | XL | Xp22.3 | GRP143 |
| 203100 | Oculocutaneous albinism 1 | AR | 11q14.3 | TYR |
| 203200 | Oculocutaneous albinism 2 | AR | 15q11.2-q12 | OCA2 |
| 203290 | Oculocutaneous albinism 3 | AR | 9p23 | TYRP1 |
| 606574 | Oculocutaneous albinism 4 | AR | 5p13.2 | SLC45A2 |
| 615312 | Oculocutaneous albinism 5 | AR | 4q24 | unknown |
| 113750 | Oculocutaneous albinism 6 | AR | 15q21.1 | SLC24A5 |
| 615179 | Oculocutaneous albinism 7 | AR | 10q22.2-q22.3 | LRMDA |
| 619165 | Oculocutaneous albinism 8 | AR | 13q32.1 | TYRP2/DCT |
| 203300 | Hermansky-Pudlak 1 | AR | 10q23.1 | HPS1/BLOC3S1 |
| 608233 | Hermansky-Pudlak 2 | AR | 5q14.1 | AP3B1 |
| 614072 | Hermansky-Pudlak 3 | AR | 3q24 | HPS3/BLOC2S1 |
| 614073 | Hermansky-Pudlak 4 | AR | 22qcen-q12.3 | HSP4/BLOC3S2 |
| 614074 | Hermansky-Pudlak 5 | AR | 11p15-p13 | HPS5/BLOC2S2 |
| 614075 | Hermansky-Pudlak 6 | AR | 10q24.32 | HPS6/BLOC2S3 |
| 614076 | Hermansky-Pudlak 7 | AR | 6p22.3 | DTNBP1 |
| 614077 | Hermansky-Pudlak 8 | AR | 19q13 | BLOC1S3 |
| 604310 | Hermansky-Pudlak 9 | AR | 15q21.1 | PLDN/BLOC1S3 |
| 617050 | Hermansky-Pudlak 10 | AR | 19p13.3 | AP3D1 |
| 619172 | Hermansky-Pudlak 11 | AR | 6p24.3 | BLOC1S5 |
| 214500 | Chediak-Higashi | AR | 1q42.1-q42.2 | LYST |
| 106210 | Aniridia syndrome | AD | 11p13 | PAX6 |
| 609218 | Foveal hypoplasia 2/FHONDA | AR | 16q23.3-q24.1 | SLC38A8 |
| 620958 | Foveal hypoplasia 3 | AR | 7p21.1 | AHR |
| 216900 | Achromatopsia 2 | AR | 2q11.2 | CNGA3 |
| 262300 | Achromatopsia 3 | AR | 8q21.3 | CNGB3 |
| 613856 | Achromatopsia 4 | AR | 1p13.3 | GNAT2 |
| 613093 | Achromatopsia 5 | AR | 10q23.33 | PDE6C |
| 610024 | Achromatopsia 6 | AR | 12p12.3 | PDE6H |
| 616517 | Achromatopsia 7 | AR | 1q23.3 | ATF6 |
| 609049 | Pierson syndrome | AR | 3p21 | LAMB2 |
| 607196 | Amish microcephaly | AR | 17q25.3 | SLC25A19 |
| 310700 | Congenital nystagmus | XL | Xq26.2 | FRMD7 |
| 300600 | Aland Eye Disease | XL | Xp11.23 | CACNA1F |
| 308300 | Incontinentia pigmenti | XLD | Xq28 | IKBKG/NEMO |
| 133780 152950 613310 601813 305390 | Familial exudative vitreo- Retinopathy (FEVR) | AD AD AD AD/AR XL | 11q14-q21 10q23.33 7q31.31 11q13.2 Xp11.3 | FZD4 KIF11 TSPAN12 LRP5 NDP |
| 613703 | Microphthalmia | digenic | 12p13.1/8q22.1 | GDF3/GDF6 |
| 153700 | Best disease | AR | 11q12.3 | BEST1 |