The disease is autosomal recessive, and can therefore skip generations. Mutations in either amnionless (AMN) or cubilin can be the culprit. Due to its autosomal recessive pattern of inheritance, affected individuals (persons possessing a homozygous recessive genotype) need to undergo genetic counseling to identify the risk of family members who might be heterozygous genetic carriers. Certain mutations on the CUBN or AMN (genes that encode cubilin and amnionless respectively) have been identified through genetic analysis, and ethnic susceptibility of some of the mutations was indicated from the current research. It has been further suggested that mutations on CUBN were restricted to exon 1-28 which encoded amnionless binding domains (EGF) and IF-Cbl binding region of cubilin, while AMN mutations primarily clustered in intron 8-11 and transmembrane domain in exon 10. Some interesting aspects of particular mutations were also elucidated by the researchers, for example, CUBN mutation c.3890C>T; p.Pro1297Leu, was considered to be a Finnish founder mutation presenting mostly in homozygous status, while an AMN mutation c.208-2A>G, which was thought to account for 15% IGS cases around the world, was postulated as an ancient founder mutation that can trace back to approximately 13,600 years ago.
Imerslund–Gräsbeck syndrome
Kohlschütter-Tönz syndrome
Naegeli–Franceschetti–Jadassohn syndrome
König's syndrome
Franceschetti–Klein syndrome
Parry–Romberg syndrome
Schöpf–Schulz–Passarge syndrome
Zechi-Ceide syndrome