Finnish heritage disease

There are 36 identified Finnish heritage diseases: • Amyloidosis, Finnish type • Lethal arthrogryposis with anterior horn cell disease • Aspartylglucosaminuria • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia • Cartilage–hair hypoplasia • Ceroid lipofuscinosis, neuronal, 1 • Ceroid lipofuscinosis, neuronal, 3 • Ceroid lipofuscinosis, neuronal, 5 • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (Synonyms: Northern epilepsy; Epilepsy, progressive, with intellectual disability) • Choroideremia • Cohen syndrome • Cornea plana 2 • Diarrhea 1, secretory chloride, congenital • Diastrophic dysplasia • Epilepsy, progressive myoclonic 1A (Unverricht–Lundborg) • Glycine encephalopathy (Nonketotic hyperglycinemia) • GRACILE syndrome • Gyrate atrophy of choroid and retina • Hydrolethalus syndrome 1 • Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7) • Lactase deficiency, congenital • Lethal congenital contracture syndrome 1 • Lysinuric protein intolerance • Meckel syndrome • Megaloblastic anemia-1, Finnish and Norwegian type • Mulibrey nanism • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 • Nephrotic syndrome, type 1 (Finnish congenital nephrosis) • Ovarian dysgenesis 1 • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu–Hakola disease) • Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy • RAPADILINO syndrome • Retinoschisis 1, X-linked, juvenile • Sialuria, Finnish type (Salla disease) • Tibial muscular dystrophy, tardive • Usher syndrome, type 3A Out of these, three are rare causes of dwarfism: cartilage–hair hypoplasia, diastrophic dysplasia and Mulibrey nanism. Four genetically distinct subtypes of neuronal ceroid lipofuscinosis are found in the Finnish heritage: CLN1, CLN3, CLN5, and CLN8. Names for conditions associated with these subtypes include infantile neuronal ceroid lipofuscinosis, Jansky–Bielschowsky disease and northern epilepsy syndrome. As of 2001, CLN5 and CLN8 had been reported almost exclusively in Finland.), a lethal condition, is known in 48 Finnish families. ==Other genetic diseases==

The European Organization for Rare Diseases (EURORDIS) estimates that there are between 5,000 and 7,000 distinct rare diseases, affecting between 6% and 8% of the population of the European Union. The majority of genetic diseases reported in Finland are not part of the Finnish disease heritage and their prevalence is not higher in Finland than worldwide. Some genetic diseases are disproportionately rare in Finns. These include cystic fibrosis and phenylketonuria. In Finland, about 1 in 80 persons are carriers of a cystic fibrosis mutation, compared with an average of 1 in 25 elsewhere in Europe. ==Genetic history==

Based on molecular data, a population bottleneck among ancestors of modern Finns is estimated to have occurred about 4000 years ago. This bottleneck resulted in exceptionally low diversity in the Y chromosome, estimated to reflect the survival of just two ancestral male lineages. The distribution of Y chromosome haplotypes within Finland is consistent with two separate founding settlements, in eastern and western Finland. The Finnish disease heritage has been attributed to this 4000-year-old bottleneck. ==Etymology==

Although the concept is older, the English term "Finnish disease heritage" first appears in the medical literature in the 1990s. One of the earliest uses is in the translated title of a 1994 medical article, soon followed by others. ==See also==