Table 1.
Synopsis of the genetics of 30 autosomal recessive, two autosomal dominant, and two X-chromosomal recessive disorders that occur frequently in the Finnish population
| Disease | McKusick no. (Locus) | Chrom. localiz. | Gene name | Gene symbol | References |
|---|---|---|---|---|---|
| Recessive inheritance | |||||
| Aspartylglucosaminuria | 208400 (AGU) | 4q | Aspartylglucosaminidase | AGA | 14 |
| Autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy | 240300 (APECED) | 21q | Autoimmune regulator | AIRE | 15, 16 |
| Cartilage-hair hypoplasia; also metaphyseal chondrodysplasia | 250250 (CHH) | 9p | 17, 18 | ||
| Ceroid-lipofuscinosis, neuronal 1, infantile; also Santavuori disease | 256730 (CLN1) | 1p | Palmitoyl protein thioesterase | PPT | 19, 20 |
| Ceroid-lipofuscinosis, neuronal 2, late infantile type | 204500 (CLN2) | 11p | Ceroid-lipofuscinosis, neuronal 2 | CLN2 | 21, 22 |
| Ceroid-lipofuncinosis, neuronal 5 | 256731 (CLN5) | 13q | 23, 24 | ||
| Cohen syndrome | 216550 (COH1) | 8q | 25, 26 | ||
| Congenital chloride diarrhea | 214700 (CLD) | 7q | Down-regulated in adenoma | DRA | 27, 28 |
| Congenital nephrosis; also Finnish nephrosis | 256300 (CNF) | 19q | Nephrin | NPHS1 | 29, 30 |
| Cornea plana congenita | 217300 (CNA2) | 12q | 31, 32 | ||
| Diastrophic dysplasia | 222600 (DTD) | 5q | Diastrophic dysplasia sulphate transporter | DTDST | 33, 34 |
| Dibasicaminoaciduria II; also lysinuric protein intolerance | 222700 (LPI) | 14q | 35 | ||
| Disaccharide intolerance II; also congenital lactase deficiency | 223000 | 36 | |||
| Gyrate atrophy of choroid and retina; also gyrate atrophy with ornithine-delta-amino transferase deficiency | 258870 (HOGA) | 10q | Ornithine amino-transferase | OAT | 37 |
| Hydrolethalus syndrome | 236680 | 38 | |||
| Hyperglycinemia, isolated nonketotic, type I | 238300 (NKH1) | 9p | Glycine decarboxylase P protein | GCSP | 39 |
| Infantile-onset spinocerebellar ataxia | 271245 (IOSCA) | 10q | 40, 41 | ||
| Lethal congenital contracture syndrome; also Herva syndrome | 253310 (LCCS) | 9q | 42, 43 | ||
| Meckel syndrome | 249000 (MKS) | 17q | 44 | ||
| Megaloblastic anemia 1, also Imerslund-Gräsbeck syndrome | 261100 (MGA1) | 10p | 45 | ||
| Mulibrey nanism | 253250 (MUL) | 17q | 46 | ||
| Muscle-eye-brain disease; also MEB disease | 253280 (MEB) | 47 | |||
| OHAHA syndrome (ophthalmoplegia, hypacusis, ataxia, hypotonia, athetosis) | 258120 (OHAHA) | 48 | |||
| Ovarian dysgenesis, XX type | 233300 (ODG1) | 2p | Follicle-stimulating hormone receptor | FSHR | 49, 50 |
| PEHO syndrome | 260565 (PEHO) | 51, 52 | |||
| Polycystic lipomembranous polycystic osteodysplasia; also Hakola syndrome | 221770 (PLOSL) | 19q | 53, 54 | ||
| Progressive epilepsy with mental retardation | 600143 (EPMR) | 8p | 55, 56 | ||
| Progressive myoclonus epilepsy, Unverricht-Lundborg type | 254800 (EPM1) | 21q | Cystatin B | CSTB | 57, 58 |
| Sialic acid storage disease; also Salla disease | 268740 (SIASD) | 6q | 59 | ||
| Usher syndrome, type III; also retinitis pigmentosa and congenital deafness | 276902 (USH3) | 3q | 60, 61 | ||
| Dominant and X-linked inheritance | |||||
| Choroideremia | 303100 (CHM) | Xq | Choroideremia | CHM | 62, 63 |
| Familial amyloidosis, Finnish type; also Meretoja syndrome; also amyloidosis V | 105120 (FAF) | 9q | Gelsolin | GSN | 64, 65 |
| Retinoschisis | 312700 (RS) | Xp | X-linked retinoschisis 1 | XLRS1 | 66, 67 |
| Tibial muscular dystrophy, tardive | 600334 (TMD) | 2q | 68, 69 |