List of rare genetic disorders

A series of photographs show patients suffering from Van der Woude syndrome. Panel A shows a close-up view of a young child’s lower facial features. An arrow points to a single repaired depression, or pit, in the child’s lower lip. Panel B also shows a close-up view of a child’s lower facial features; the child’s upper lip is indented in two places. An arrow points to a single pit on the child’s lower lip. Panel C shows a full-facial view of an adult man’s face. The man’s upper lip is indented in two places. An arrow points to pits on the man’s lower lip. © 2002 Courtesy of Jeffrey C. Murray, MD, University of Iowa. All rights reserved. Studies of single-gene diseases in humans have led to many completely unexpected findings. One such example is the discovery of trinucleotide repeat expansions and their association with several forms of neurodegenerative disease, including Huntington's disease (HTT gene), myotonic dystrophy (DMPK gene), fragile X syndrome (FMR1 gene), Friedreich's ataxia (FRDA gene), and spinocerebellar ataxias (SCA1, SCA2, SCA3, and ATXN1 genes).

Research regarding single-gene human diseases has also uncovered "modifier" genes that can alter the severity of phenotypes associated with mutations in the primary disease-associated gene. For instance, for many years, cystic fibrosis was considered a single-gene disease associated with mutations in the cystic fibrosis-associated gene, CFTR. However, the initial discovery of the CFTR gene was followed by the identification of several additional genes that contribute to cystic fibrosis; several modifier genes have also been identified that can modulate the phenotypes associated with mutations in CFTR (Guggino & Stanton, 2006). Cystic fibrosis-associated phenotypes due to mutations in the CFTR gene are in turn modulated by mutations in the following genes: gastrointestinal phenotypes (MUC1), pulmonary phenotypes (TNF, TGFB1, and MBL2), bowel obstruction at birth/meconium ileus (CFM1), and microbial infections (NOS1).

In addition, studies of monogenic disease transmission in identical twins have uncovered various nongenetic mechanisms associated with disease. For example, identical twins with the same mutation in the gene associated with Duchenne muscular dystrophy, called DMD, can exhibit strikingly different disease phenotypes due to different patterns of X chromosome inactivation (Abbadi et al., 1994).

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Popular Q&A

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What is the most rare and unique genetic disorder?

Cohen Syndrome leads to severe mental retardation and other physical problems. There are only 100 known cases worldwide.

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